Suicide – 52 Ancestors #197


Those.

Those are flashing red neon warning words.

We’ve all been there one time or another. The question is, do we stay there? Is that a momentary thought, or perhaps something that motivates us to create a better life? The abused spouse who leaves, and takes with her the children also condemned to an abusive father. Those end-of-the line words in that situation are actually positive.

But in other situations, they aren’t positive at all.

My Story

Yes, this is my story, that of my father, and the story of other family members too.

I’ve never shared this before, not even with close friends and family. I’ve hesitated over and over before pressing the “publish” button.

Why haven’t I shared?

Because there didn’t seem to be any reason to dig up old dead history. Ironic words for a genealogist, right?

There is a lot of shame, prejudice, embarrassment and misunderstanding about suicide and the process of getting to that point.

If you think, for one minute, that suicide hasn’t touched you, you’re wrong. You may not know. Some suicides are hidden as accidents, either intentionally by the victim or by the embarrassed family. Some suicide attempts fail (thankfully) and are either disguised or simply not discovered. If you haven’t been touched yet, you will be, because suicides are sharply on the rise.

I’m telling my story now because there are ways to help if you recognize the signs – and ways to “not help” too. Sometimes that’s a fine line.

If this story helps even one of you, or your loved ones, it’s worth telling.

There is far too much shame surrounding suicide, which often prevents discussion, so today, I’m telling you these stories in their bare naked truth with the hope that we can lift the curtain of shame and embarrassment, thereby saving people in desperate pain.

Why Now?

Why am I telling this story now?

One of the suicide predictors to watch for is other suicides. Two suicides of famous people have hit the airwaves this week, and people who might be on the edge may be “inspired,” or pushed over the edge by these suicides.

So anyone already at risk is now more at risk.

It’s time to tell this truth.

I hope you’ll take the time to read and listen, because the life you save may be the life of someone you love.

Danger Signs and Resources

The National Suicide Prevention Lifeline reports the following danger signs:

  • Withdrawal
  • Alcohol and drug use, both of which are high risk in and of themselves
  • Comments about killing oneself – 50-75% of people say something to someone first
  • Insomnia
  • Losing interest in things that previously interested them
  • Finding ways to kill themselves such as hoarding medicine or buying a gun
  • Other suicides

I would add other things to that list:

  • Illness
  • Self-harm, like cutting
  • Dramatic life changes such as divorce, severe illness or death of a close family member
  • Suicides among peer groups, including online acquaintances
  • Negative self-image activities, such as bulimia or purging

If there is any question in your mind, please seek help or advice for yourself or your friend or family member at:

  • National Suicide Prevention Lifeline 1-800-273-8255
  • Veterans Suicide Hotline 1-800-273-8255 and press 1
  • LGBTQ Suicide Hotline 1-866-488-7386
  • Teen Suicide Hotline 1-800-872-5437
  • Christian Suicide Hotline 1-888-667-5947
  • International Resources

Please read this article, What to Do When a Loved One is Severely Depressed.

Where to Start

I almost don’t even know where to start, because, looking back to the two primary events I’m going to share with you, the beginnings were vastly different. There are many paths.

My father’s probable suicide began years and years before his death with poor choices that led to a life spinning out of control, exacerbated by alcohol addiction.

My own desperation journey began with my former husband’s stroke, which turned my life and that of my children entirely upside down.

Two very different situations, and two very different outcomes.

I probably need to say at this point that I am writing this article with very little editing. I am not a social worker or mental health counselor. I’m sharing my rather raw experiences. They may or may not be politically correct. They are my truth and written in my stream-of-consciousness “unedited voice.” There are sentence fragments and opinions. And yes, I swear:)

Suicide and Depression

Before I sought (and attended) counseling, I thought of depression only in the context of what I was personally familiar with. I thought of depression as something rather temporary, fleeting and “curable” with time. Meaning that one could be “depressed” over something at work, or the loss of a spouse through divorce, but those things are curable by a different job or a different spouse.

In other words, depression was a result of a life event, but escapable in most instances. I was young and depression then wasn’t diagnosed as a disease, per se. Mental health diseases were things like schizophrenia which was somewhat treatable, but not escapable. My former mother-in-law was afflicted with that disease and I had horrible first-hand knowledge.

During the counseling process, I learned that there are two types of depression.

One type of depression, which my counselor termed clinical depression, seems to others and sometimes to the person affected to appear “out of no place” or “for no reason.” It’s a mental health disease. Diseases don’t necessarily have “reasons.” They just are. Depression seems to be genetically linked, but it’s a complex disease with many factors. Regardless of why, it’s horrible for those affected.

Two suicides in the past few years have affected me greatly, for two entirely different reasons.

The first was the death of Robin Williams in 2014. Just ripped my heart out. So tragically sad.

I knew Robin Williams, but not well. Before Robin was famous, he made training videos for Hewlett Packard. He also occasionally participated in training sessions for new employees. That’s how I met Robin Williams. He was funny, warm, genuine and never would I have expected this man to carry the demon of depression. He was inspirational. When someone that inspires you dies by their own hand in such obvious misery, it rocks your boat. Shakes you to the core.

It’s somehow ironic that the comedian who related to so many and made us laugh joyfully was so horribly tortured and unhappy himself. To the point of death. Where death was preferable to torture. No one, but no one, would ever have expected Robin Williams to die by suicide.

The second suicide of a public figure happened earlier today, June 8, 2018 (as I write this) with the death of Anthony Bourdain. I didn’t know Anthony personally, but it seems like those of us who watched Anthony over the years felt like we did. He was incredibly outspoken, the consummate bad boy who had “made it” in spite of what seemed like insurmountable odds. His tough life and substance addition were well known.

While I liked Robin Williams immensely, I connected with Anthony Bourdain on a different level. Anthony seemed like one of us, plus food is always connected with comfort. Food, travel and a non-drama-free mince-no-words unapologetic survivor. Who didn’t want to watch? And watch we did, in droves. Now, we’ve watched his demise too.

Both Robin and Anthony were known to battle depression.

Not all people who are depressed have suicidal thoughts, and not all people who end their life by suicide are depressed.

I know that sounds odd, but it’s true.

Types of Suicide

When a person who has a reasonable expectation of life left to live dies by their own choice, that’s the kind of suicide that might have been preventable. That’s where recognition and prevention efforts need to focus.

The other type of suicide, which I wish desperately was called by a different name is when a person who does not have a reasonable expectation of a quality life left to live chooses their own time, place and way to exit.

In my mind, that’s entirely different. I strongly feel that it’s the epitome of inhumanity to force a person who will die miserably to live through that death when we have other, quick and pain-free choices. And if you’re about to tell me that hospice does just that, I will beg to differ with you until the cows come home. Been there, done that with multiple family members and it’s just not the case. We don’t force our pets to suffer at their end of life, but we subject our family members to torturous deaths.

My step-father somehow mustered enough strength and removed his own ventilator in order to end the misery of a prolonged death. Was that suicide? Probably, technically. He certainly ended his own life on his terms. He removed his first wife’s life support too when there was no hope and she was permanently comatose and brain dead. I guess, technically, that makes him a murderer too.

In reality, he was a humane hero. I would want him at my bedside because I know MY best interest would come first.

I certainly missed him when he died, but he had lived his life to the fullest and prolonging the inevitable was only cruel.

My Father

But that’s not the father whose story I want to tell. My biological father, my Daddy, William Sterling Estes, died in a car accident in 1963. That’s the official story. The one everyone told. The one I believed. Until one day when I was an adult and the accidental truth arrived in separate pieces from different people and the truth dawned on me like an unwelcome storm.

Losing a parent when you are a child is exceedingly difficult. My father was the third close death in as many years. My maternal grandmother and grandfather, followed by my father.

My parents were divorced and my father had remarried. I loved going to visit my father and step-mother, Virgie. She was a lovely woman. She and my mother got along just fine.

I didn’t see my father often, so he was something of an absent hero. I was always extremely excited when he appeared, often bearing some kind of small gift. My mother, of course, who bore the brunt of everything everyday while he was absent was chronically irritated at this turn of events. He was no hero to Mother, in fact, just the opposite, a scoundrel, but their story is one for another time.

As a result of having lived with him for half a decade, ending just three years before his death, it was a piece of information from her that eventually explained part of the answer to the question of why he might have chosen suicide.

The Day Before

How my father came to work at a funeral home is also a story for a full article, but let’s just say that he had previously worked as a physician and apparently dead bodies didn’t bother him. He worked with the local funeral director as needed. At that time, funeral homes were owned by local families. It took two strong men unbothered by death and body fluids to lift bodies, a task which had to be accomplished multiple times between the removal of the body from where they died and the funeral.

At that time in small-town Indiana, the hearse also performed a second duty as an ambulance. If this strikes you as funny today, it did me too. I can just imagine waking up in the hearse after an accident of some sort and not knowing if you were on the way to the hospital or morgue, or worse yet, the cemetery. Dark humor, I know.

My father was backing the hearse into the funeral home garage, the day before his “accident,” and the funeral director asked him why. My father replied, “Because you’re going to need it this weekend.”

I learned of this about 50 years after the fact, in a happenstance conversation. I had called the funeral home to see if they had any additional information about my father’s funeral – not knowing that he was working there at the time – and certainly unaware of the conversation the day before his death. Imagine my shock!

The man I spoke with 50 years later was the son of the director and was present at the time of the conversation. He took over the family business from his father. The son retired shortly after that conversation and sold the funeral home to a corporate interest. I’m glad I accidentally talked to him when I did, because that opportunity was forever gone shortly thereafter.

The man said that at the time, his father had mentioned that my father’s comment was “odd,” but after the “accident” the following day, the funeral director told his son that he believed my father’s death was suicide. That tidbit may not have been shared with anyone else, but when I heard it, and then combined it with additional puzzle pieces, it made sense. Terrible sense.

Although I can tell you, it was one hell of an electric shock wave to learn as an adult that your father actually committed suicide. It changed the death narrative entirely and caused me to ask questions and reflect on the consummate question, why.

And it hurt.

Accidental death and intentional death is very different for the survivors.

The “Accident”

God this is hard to write.

Even all these years later.

My father had a long history of alcohol abuse.

Before you judge him too harshly, he and his siblings were fed alcohol as children. Their father, William George Estes, was a bootlegger, and apparently not a great one or they wouldn’t have wanted for food. When there was no food, they were given alcohol to make their hungry bellies stop hurting and to make them sleep. My aunt revealed these sordid, heartbreaking details in a letter to my step-mother. Then other family members corroborated. I was horrified and hurt terribly for my father as a child. His parents may not have doomed him, but they certainly started him down a terrible path.

My grandmother, Ollie Bolton, eventually left my grandfather after she caught him cheating, but according to various family resources, she didn’t want her two sons who hopped a freight train in Indiana and found their way to their grandparents in Tennessee. And Ollie wasn’t painted as the villain in the story, William George was worse.

I try desperately not to judge my grandparents, neither of whom I ever met.

In any event, my father learned very young that alcohol was the answer to everything and it made you feel better. For all I know, he may actually have been addicted before he was even a teenager. Regardless, it’s horribly sad.

Dad certainly was an alcoholic by the time he was an adult – his drink of choice being whiskey or moonshine. He was also a veteran of two wars, and according to both my mother and my step-mother, he checked himself into VA hospitals more than once to “dry-out,” but then would fall off the wagon again after release. Sometimes the wagon event took weeks or months, but it always happened.

Clearly, his undependability affected his relationships with women and probably with others as well. The exception was my step-mother, Virgie, who knew him when he was young, married him when he was old, and loved him for who he was. It’s somehow ironic that it was in that supportive relationship that he decided to exit the world.

My father’s military records were burned in the National Personnel Records Center fire in St. Louis in 1972. The VA attempted to help me reconstruct them from different records that existed elsewhere, but medical records were entirely absent.

According to Virgie and Mom, Dad had once again checked into the VA hospital in Fort Wayne and dried out. He was dismissed and went back home, once again hopeful and upbeat. All I can say is that my heart aches that Alcoholics Anonymous didn’t yet exist ubiquitously – because he might had stood a fighting chance.

Virgie told me that he was stone-cold sober after his release and at the time of the accident, but years later, her daughter told a different story.

Apparently, either the day before, or the morning of the accident, he was seen in the local park intoxicated. Perhaps he wasn’t. Perhaps he was and Virgie didn’t know. Perhaps she was in denial. Perhaps she wanted to spare me thinking about my father’s last few hours as an alcoholic who had fallen off the wagon again, a drunk in the park.

The stories vary somewhat, but the essence of the situation was that at the time of the accident, he was either going to pick the preacher up to go fishing, or had dropped him off after fishing. My father loved to fish and judging from the time of day, I’d guess they had already been fishing.

My father was also a master of disguising his alcohol use and abuse, and alcohol consumption wasn’t viewed as negatively at that time as it is today. My recollection was that he always had an unobtrusive flask in his tackle box.

About 7:30 that evening, Dad was driving Virgie’s 1960 Rambler, and at a T-road, with a telephone pole at the intersection, he pressed the gas instead of the brake and hit the telephone pole head on, more than 100 feet from the road. That’s a huge distance and he could have easily maneuvered enough to avoid the pole. Instead, he hit it dead on. No skid marks – no evasive maneuvers. Full on throttle.

Genealogists, please note that the relationships are incomplete and my name is incorrect. Virginia Little is a half-sister, not step-sister and other relatives were omitted.

Today, that transmission pole still seems to be in place, to the right of the small grey pin at the left side of the picture below. It pains me to look, but I had to. I bet no one today knows that someone died there in 1963 – 55 years ago this summer.

The official diagnosis was that Dad had an angina attack and accidentally stomped the gas instead of the brake. Until the other pieces of evidence came to light, no one questioned that.

Indeed, the very hearse he had backed into the garage the day before transported him from the accident scene to the hospital, just as he had predicted. Then the next day, it drove him to the funeral home, and then after the funeral, to the cemetery.

He died at Mt. Auburn and Main, he lived on Hickory and he is buried in the IOOF (Oddfellows) Cemetery in the upper left hand corner on the map below, within sight of where he lived – everything within a mile.

A nice tidy bundle. But it wasn’t tidy at all.

Why?

Why would Dad have committed suicide?

Three possible reasons come to mind.

  • He had once again disappointed his spouse by falling off the wagon. Except this time, it wasn’t a spouse who was threatening to leave him if he didn’t sober up, but one that loved him unconditionally. He may have realized that he truly was not in control of his life – that alcohol controlled him and had controlled his entire life. Maybe he was just done trying.
  • Maybe Dad was depressed because of his relapse and could have succeeded if he had tried again. This was his rock bottom, when other rock bottoms hadn’t been rock bottom enough – but he didn’t survive this rock bottom.
  • Maybe Dad knew something else. As Mom aged, she told me things she would never have told me earlier. Dad had consumed alcohol his entire life. He was about 62 when he died. We don’t know exactly which year he was born, because his birth year on his delayed birth certificate and other identifying information varied by what he wanted/needed his age to be at the moment. His liver was very probably a hot mess. Mom thought he had cancer. She told me rather explicit details about the “messes she had to clean up” which certainly do sound like someone with an internal issue.

If Dad knew he had cancer, suspected he had cirrhosis of the liver (which often precedes cancer) and had disappointed his wife once again, maybe Dad decided it was better to just check out. Maybe he knew what was coming and was afraid. Maybe medically, he was worse than anyone, except him, knew. Maybe his drinking by then was to medicate physical pain.

No Goodbye

I never got to say goodbye.

It was bad enough when I thought his death was an accident.

Maybe he couldn’t bring himself to do that, to say goodbye to me. Maybe he wanted to spare me.

Maybe. Maybe. Maybe.

So many maybes and no answers.

He did leave a message for me with Virgie when he was in the hospital, before he passed away. According to his death certificate, he died of internal bleeding sometime after midnight, about 6 hours after the accident.

And then, 50 miles away, in my bedroom, a shadowy silhouette of my father sat on the edge of my bed. I felt his weight as he sat down and the mattress moved as he touched me. I woke up, seeing his silhouette with the streetlight behind him – so glad that he had come to visit.

In the morning, I leaped out of bed when I heard the phone ring. I knew that Daddy had arrived late the night before and would be there this morning, drinking coffee with cream and sugar at the kitchen table with Mom, waiting for me to get up. Like so many other times before.

I ran up to mother, who was just hanging up the phone, and excitedly asked her where Daddy was.

I didn’t see him.

Mother didn’t say anything, at first, then asked me what I meant.

I told her that I knew he was there because he came and sat on my bed the night before. I was confused, because I didn’t see him anyplace in the house.

She turned ashen and began to shake.

Mother asked me to come and sit beside her on the couch. She put her arms around me, like she wanted to shelter me.

She explained to me that not only was Daddy not there, but he hadn’t been there and that he would never be there again.

I didn’t believe her.

I cried gulping sobs. Unfortunately, I understood death all too well. I didn’t know what to think. I was just sure that she had sent him away, and I was very angry with my mother. I asked many questions and the only answers she had for me were, “I don’t know.”

The phone call had been Virgie and Mom simply didn’t have any answers yet.

For a change, Mom didn’t seem angry with him. She was crying too. I was very confused. Then I talked to Virgie and I was just heartbroken. I can still feel that searing pain ripping through my little body, sitting here today.

I grieved my father’s death terribly and never obtained closure as a child. I’m still not entirely sure that I ever did, although I finally accepted that he had died. As an adult, I arranged for his military headstone myself and had it set.

I wasn’t allowed to attend his funeral, or those of either grandparent. Children then were “spared” grief as much as possible. That would have helped me a lot – to at least see him one more time, even if it was in a casket.

Death became a thief in the night, a stealer of those I loved. Death was an enemy and without any of the positive benefits of group grieving and comfort. Everything about death and funerals had a very negative connotation. To this day, I abhor funerals.

My Step-Father

A few years later, my mother married my step father, Dean Long, whom I completely adored. He and I had a symbiotic relationship because his daughter, who was about my age had died, and I had lost my father. We healed each other’s wounds and formed a bond that not even death could sever.

I did what kids do. I went to school, made mistakes and got called on the carpet. My Mom was the disciplinarian and my step-father was a quiet man of few words. He didn’t need many. I listened to him without reservation.

It was my step-father who encouraged me to stretch my wings beyond what “girls” were supposed to be able to do back then, and beyond Indiana. It was he who told me I could be and do anything I set my mind to. It was him that told me never to let anyone tell me otherwise.

When I found myself married to an abusive spouse, it was Dad that encouraged me to leave. I use the word “encourage’ loosely. He literally put his life on the line for me, more than once. Abuse is a terribly intimidating cyclic phenomenon and without his support, I don’t know that I would have been able to break free of that cycle alone.

I did, moved and remarried. He saved me, or more succinctly, helped me to save myself.

My Turn in the Hot Seat

Fast forward.

Years later, in 1993, I was in my prime. I had finished multiple college degrees and a few years earlier, left a lucrative professional position in the computer industry to found a consulting company. Things were going well, at home and at work – until Sunday, June 20st.

When I woke up that morning, my husband couldn’t get out of bed and his speech was quite slurred. I knew there was a problem, and immediately called 911. My husband and son were both volunteer firefighters and paramedics, although my son wasn’t home at the time.

I had never been so glad to see those men arrive. They were at the house within a couple minutes. My husband’s best friend was the first to arrive. I had to leave my husband in the bedroom to go outside to explain to Chuck what was happening.

“I think he had a stroke.”

And then I began to sob, because I knew.

That stroke, he might have recovered mostly from, but the devastating stroke that followed a week later destroyed much of his brain.

He was hospitalized for months with complication after complication, hovering near death anew every day.

Needless to say, he not only couldn’t work, he would never be able to work again. I couldn’t be at the hospital managing his daily health crisis and work at the same time. Not only that, but I suddenly needed to make as much money as we both had made together previously. The bills didn’t go down, they went up with his skyrocketing medical bills during his 6 month hospital stay.

I vividly remember the night that I walked into the house after working all day and then going to the hospital to deal with a crisis of some sort and saying to myself, “I need a beer.”

Then I heard what I said, especially the word “need.” I knew in that instant that if I had one beer, I would never stop. I did need that beer. It’s called self-medication – and it’s a hallmark of depression. I didn’t have that beer that day, nor did I allow myself to drink anything alcoholic for several years. Alcoholism clearly has a hereditary component and I knew that I was susceptible. I do occasionally have a drink now, but they are few and far between, and never, ever on a “bad day.”

A few months later, when it was determined that my husband wasn’t going to die, at least not immediately, focus shifted to his hospital release. Our home was not handicapped accessible for a wheelchair. Not only that, but he could never be left alone with his cognitive judgement impairments. Insurance does not pay for home modifications. No one pays for home modifications for handicapped access. Neither does anyone pay for home assistance nor residence in a facility. I had no good options.

By December, we were scheduling his release from the hospital. I had taken a loan to convert the garage into a handicapped bedroom/bathroom and make the kitchen and living room handicapped accessible. I had hired an aide to stay with him while I worked, but in the next few months, I would go through aides like water because he was “difficult” in many ways, including sexually inappropriate.

His “executive function” that prevents normal people from doing things like grabbing women by the genitals had been destroyed in the stroke. I understood that he couldn’t help himself, but understanding and living with the situation are two entirely different things.

Our daughter was a teenager at this time and suffice it to say that this situation pushed her into behaviors that were not healthy for her. That’s her story to tell, not mine, but it was living Hell on earth for everyone involved.

My son, an older teen, couldn’t cope and left the family and would remain estranged for many years. However, my daughter and I were trapped there.

My step-father was in failing health with COPD and would die in September of 1994.

My mother was a wreck between my step-father, my husband’s stoke, me and my children. She wanted to help, but couldn’t leave Indiana to do so.

My step-brother lived in another state and had a host of serious issues. He was in no condition to help anyone, not even himself.

There was no one to depend on, other than my daughter who was too young to have that kind of responsibility foisted upon her.

When you’re in that kind of a situation you learn very quickly who your friends and family are that care. Many you think you can depend on simply disappear into the shadows. Sometimes people you don’t expect step forward too.

Of my husband’s three brothers, two were ministers and they were “too busy” to help. All I can say is “bless their hearts.” You southern people will know exactly what that means.

The third brother, the official “black sheep” of the family, condemned by the ministers, came with his wife periodically to help us. I’ve always liked black sheep.

My husband’s parents were in their 80s and couldn’t really grasp the situation. They thought that if he could talk, he was fine. Never mind that he made no sense. My mother-in-law had advanced Parkinson’s disease and my father-in-law had congestive heart failure. They really couldn’t help much, but they could certainly criticize everything I did, or didn’t do. Both died within a few years.

My half-brother couldn’t be bothered and never offered to help. So much for family.

A couple of my husband’s fire-department buddies came to help from time to time, as did my quilting friends. Chuck was here regularly trying to help me get things in order, but after my husband came home, few could deal with him. I was extremely, extremely grateful, but the need so far outweighed the available resources.

Eventually, I was at the end of my rope – 18 months progressively descending into the fires of Hell.

The Christmas from Hell

It was Christmas 1994.

I had decorated the Christmas tree, not that I cared, but because that’s what I was “supposed to do.” I was still trying to make everything as normal as I could. I sat down and cried, but then I was just too tired and hopeless even for tears. There was no beauty in that tree, no beauty in Christmas, no beauty in life.

I was terribly, chronically sleep deprived and had been for months. I worked in the day, and was my husband’s caregiver the rest of the time. 24X7X365 with no break. His care meant looking after an incontinent 260 pound 2 or 3 year old that is never cute, never grows up and you can’t take anyplace because of his behavior. His weight increased and he was very difficult for me to manage.

My son was gone and had been gone throughout the entire episode. My daughter had run away from home. My step-father had died. My mother was coming the next day, Christmas Eve, and the week after Christmas, we had to take my husband to live in a care facility because I had lost the final aide and couldn’t find anyone willing to take care of him while I worked. My job was hanging on by a thread, through the extreme generosity of my customer, but that wouldn’t last forever. I had to do something and I felt like an abysmal failure on every level.

My husband was going to be crushed that he had to live someplace else. I dreaded trying to explain to someone who couldn’t understand why that had to happen. I dreaded driving away that day. I dreaded every single day.

All of that money spent on handicapped remodeling was for naught. I couldn’t stay home and take care of him, because someone had to make the house payment, pay the utilities, the car payment, buy the groceries, arrange, transport to and pay for his therapy, etc.

When my mother arrived the next day, I was going to have to explain to her what had happened with my daughter, and that she had run away. My mother had born so much heartbreak over the past few months with my Dad’s prolonged death that I didn’t know how she would withstand this final straw.

I didn’t know how I was going to withstand this final straw.

Everything seemed entirely and completely hopeless.

My husband was not a man I knew. He had become abusive and inappropriate as a result of the stroke. In hindsight, I should never have brought him home and subjected me and my daughter to his behaviors, but I didn’t know, and the medical professionals certainly didn’t explain that. I thought I could make it work, and wanted to, but in the end – I couldn’t.

My children were gone. My step-father, whose last words in this life to me were, “I love you. You’ll make it, Honey. I’ve been so lucky to have you in my life,” was gone.

The creditors were calling about my husband’s hospital bills, and if you’ve never spoken to a professional bill collector – you’ve never been bullied. They are professionals at lies, fear and intimidation. May they rot in hell.

I finally learned to turn the tables and I took out my long-pent-up frustration on them when they began their bully routine. One actually had the AUDACITY to tell me my husband was LUCKY to have had a stroke so he didn’t have to pay his bills. Huh? He had the medical bills because he had the stroke. Some people are pure evil. My friend who was also a nurse overheard one of those conversations and bought be a pin that said “psycho bitch from hell.” Let me tell you, I wore it proudly as a badge of honor. It meant that maybe, just maybe, I was mad enough to survive.

Crossing the Line

It was late that December 23rd night or maybe very early morning the 24th by then. I sat down on the couch after I finished decorating the tree. I knew neither my son or daughter would be there for Christmas. I didn’t know where they would be, but it wasn’t at home. I needed to see them, but that wasn’t going to happen. I couldn’t even get ahold of them in the days before cell phones.

My husband was too impaired to realize they were absent, but my mother would be devastated. I was devastated. Christmas would be a day of sorrow, the first holiday since Dad’s death and so much loss. I wanted to sleep through it. I wanted to sleep forever and never wake up.

The Christmas tree was a catalyst. The ornaments handmade in happier times, those hopes and dreams now entirely dashed. No hope. No dreams. Nothing. That life ripped from me. And seemingly, no way out.

I had finally gotten my infant-adult husband to sleep. The house was silent. The lights were out except for the Christmas tree lights, flickering Christmas colors mockingly, and the tree which had been the center of so much happiness and joy for so long represented everything lost forever.

And I thought:

“I can’t take this anymore.”

It wasn’t a shout, but a whisper.

But it was the crossing of a line.

I also realized what was happening.

I suddenly understood that suicide wasn’t about wanting to be dead.

It was about wanting the pain to stop.

The chronic unending pain.

That there was no other way to make stop.

Death seemed far more reasonable and attractive than THAT life.

You don’t hurt after you’re dead.

Three things stopped me.

My love for my mother, my hope and love for my daughter and my responsibility towards my husband, in no particular order.

  • Without me advocating for my husband and watching over him, not to mention paying his bills, he would have wound up in an abusive welfare hell-hole. He was not a nice man, but I remembered the man before the stroke and I couldn’t do that to him.
  • Without me, my daughter, no matter how difficult she was being, would have had no hope of recovery. I wasn’t exactly her best friend at the time, but I was a resource when she was ready.
  • I think my death would have killed my mother.
  • Which would have killed my son.

I couldn’t live and I couldn’t die. It was that simple.

I had to get help. At that moment, death would have been easier, far easier, believe me.

I never told my mother about this. I may have told my children since, but I certainly didn’t tell them at the time. Even if they had been there, I wouldn’t have wanted to burden them. My husband wouldn’t have understood or cared. He had lost all capability to care about anyone but himself.

After Christmas, I found a counselor whose husband was also wheel-chair bound. The difference was that her husband was not mentally impaired as well, but she fully understood the challenges I faced. She saw me weekly, on a sliding scale, for years.

The Uphill Battle

Life improved, slowly. With my counselor’s approval, I declined depression and anxiety medications, because I was concerned about addiction. My family was already too full of that and I knew I had a history with both my father and grandfather.

With my husband living in a specialized facility where he received good care and constant supervision, I was once again able to sleep and work with regularity – which means the bills were much easier to pay. Good thing, because his living situation was extremely expensive.

However, putting him into a care facility came with a huge dosage of guilt, dealt out freely by his family and others who had no clue.

“You put your husband in a home?”

Yep, I did, for his good and everyone else’s too. I finally told anyone who thought otherwise that they were welcome to take him for a day. A couple of people took me up on that offer, and I never, ever heard another word like that out of them again – nor did anyone ever take him a second time. Walking a mile in someone’s moccasins is truly the best teacher.

My daughter eventually recovered, but that took another decade.

My son returned to the family about the same time my daughter recovered.

Healing was slow and difficult for everyone and still isn’t complete.

My step-brother died under “suspicious circumstances” at Thanksgiving in 1999. The case was never closed. That situation caused my mother an extreme amount of grief and anxiety.

My mother moved near my half-brother and passed away in 2006. She never really recovered after my step-father’s and step-brother’s deaths. I’m sure she had undiagnosed depression, but she never told me – just like I had never told her or my children. I found many flyers about seniors and depression in her belongings after her death. I felt just awful. I would have done something had I known.

Keeping depression a secret was a mistake on my part and hers as well. Sometimes the depressed person can’t reach out, so it’s up to the rest of us to reach in.

I became officially single in 2000, remarried in 2003. Those years are scars, not open wounds any longer.

It was a very long, very ugly decade of descent into Hell followed by an uphill battle of gargantuan proportions – but I made it. I would not have made it without my counselor, my friends and the part of my family that actually cared. I found strength in the memory of my step-father that often sustained me in difficult times. I have since added grandchildren, a son-in-law, daughter-in-law and new family-of-heart members to my family that was dwindling.

Needless to say, my life changed in the instant of that stroke. That life was forever broken, shattered into a million unrecognizable pieces and was never whole again. I rebuilt a new life out of a few salvageable pieces, namely my children, but not without a huge amount of pain and effort – on their part as well as mine. Those relationships were indelibly changed too.

Had I exited, my children would have been much more permanently damaged, perhaps irreparably. I’m so glad I didn’t do that in my darkest moment. They were that oh-so-tiny spec of light.

So many times, it was the little blessings from people that told me they cared that meant so much and kept me going. That’s also part of the reason why I make care quilts today and have since the Oklahoma City bombing in 1995 when my friend and I made quilts for the children and husband of Rebecca Anderson who gave her life rescuing victims. It’s my way of giving back by paying it forward.

If you find someone in a depressing situation, what can you do, even if they won’t admit to depression? I honestly didn’t realize the severity until that December 23rd when I was at the end of my rope.

How to Help

My rule of thumb is that I will make every effort to help someone who is truly trying to help themselves, or who can genuinely not help themselves but would if they could. This means that I’m not interested in high-drama situations where people are looking to benefit from their situation, for attention or to manipulate others. I also draw the line at substance abuse. Tough love. I will help them, but they MUST help themselves too.

For people suffering from clinical depression, meaning depression as a disease that is not related to a specific trigger event:

  • Offer support. Tell them you love them, if appropriate. Love is powerful medicine.
  • Listen, empathize, and ask questions.
  • Tell them you understand and offer helpful suggestions. Don’t begin the sentences with, “Why don’t you…” which implies criticism, or with, “You should…”
  • Do NOT tell them that they shouldn’t feel the way they do – i.e. do NOT say, “But you have such a good life. You shouldn’t be depressed.” Or worse yet, “Just get over it.” You may not mean that as judgmental, but it feels that way and will only drive a wedge between you and depress them further.
  • Encourage or help them to seek appropriate assistance. Assistance could be in the form of counseling, advocating for them to receive some sort of assistance program or in severe cases, intervention if self-harm is a potential issue.

For people suffering from situational depression – like the stroke scenario:

  • Offer support. Tell them you love them, if appropriate.
  • Listen, empathize, and ask questions.
  • Tell them you understand and offer help. Don’t say, “All you need to do is ask” because they may not be able to ask. Asking feels like begging and imposing yourself on other people. It also opens up the opportunity for rejection.
  • Figure out what they need and help make arrangement to meet those needs. My quilt sisters brought food frozen into meal sized portions for months – without me asking. I was so incredibly grateful. My neighbor occasionally brought over a pot of chili. Someone anonymously dropped off Thanksgiving dinner on the porch when my kitchen was torn apart to make it handicapped safe and accessible – bless them. My EGA chapter took up a collection. My brother-in-law and his wife would occasionally come to relieve my daughter and I so the two of us could do something together like shop for clothes. I would have given anything for someone to mow the lawn or plow the snow.
  • Do NOT say things like “God won’t give you more than you can handle.” What I heard was that my husband and family were being punished because I was a strong woman. Secondly, those people NEVER offered to help. I guess from their perspective, God was going to do it all. Well, let me tell you, God doesn’t shovel snow. I thought if I heard that phrase one more time I would explode. Say what you really mean, not that platitude. Trust me, it’s not comforting even though you mean it to be, especially to the person who has heard it hundreds of times and there is no food in the house and the furnace doesn’t work. If you don’t know what to say, say, “I’m sorry. What do you need?”
  • Don’t rely on the person to voluntarily tell you what they need, because no one wants to be THAT PERSON who asks for help and for assistance from others. Especially when you’ve been told over and over that God is supposed to be providing, but you’re still in need. It’s especially difficult for people who have been giving assistance their entire lives. Accepting charity or being in the position that you need to is very embarrassing and often humiliating. It makes people feel weak and vulnerable. It was extremely difficult for me then and even discussing it today, this many years later, is uncomfortable.

If you feel any person is a danger to themselves, call a suicide hotline with them or call 911. Don’t interpret a threat or discussion of suicide as an idle threat. It may not be. You could be dead wrong.

If you live with someone who takes medication for depression or anxiety, watch to be sure they are taking their medication. Often people want to stop when they feel better, but they feel better because they are taking the medication. Then they become too depressed to take their medication. It’s a downward spiral.

Be on the lookout for either words or actions that say:

If you hear those, or see those, be their light. Make the difference.

  • Tell them everything is better in the light of day.
  • Tell them that you are THERE for them, and mean it. Follow through and follow up. Nothing is worse than feeling completely irrelevant and then having someone make hollow promises about how they are going to help you – and then they don’t.
  • Tell them that when you are hungry, angry, lonely or tired, life looks bleak. So HALT.
  • Tell them you can fix hungry, angry, lonely and tired, but you can’t fix gone.
  • Tell them what a bright spot they are in the world and why you believe that.
  • Tell them how much they mean to you.
  • Tell them about the darkness that will replace their light in the lives of the people who love them if they leave.
  • Tell them you will help them and begin the discussion to solve the problem any way other than by leaving permanently. Make a plan.
  • Tell them that you love them, because if you don’t, you may never get the opportunity again.
  • If they have tried before to solve problems like addiction that seem unsolvable, encourage them to try again, with help, one day at a time.
  • Strongly discourage the use of alcohol or drugs, other than under medical supervision. You can’t deal with life’s issues when you don’t face them. You can’t overcome what you don’t confront. You need all of your mental faculties to slay those dragons.

You may not be able to stop them, because ultimately, the choice is theirs, but you can damned sure try. Sometimes trying means the world, and life, to someone who sees only a very dark tunnel and no light.

There is light, but they may need your hand to reach it.

DNA.Land

DNA.Land first launched in October of 2015, a free upload site whose goal is to encourage sharing to enable scientists to make new discoveries including the initiative to understand what is needed for a cure for breast cancer by 2020.

Their purpose, as stated by DNA.Land in their FAQ:

DNA.Land is a place where you can learn more about your genome while enabling scientists to make new genetic discoveries for the benefit of humanity. Our goal is to help members to interpret their data and to enable their contribution to research.

DNA.Land has invested a lot of effort into providing tools for genetic genealogists in order to encourage them to upload their autosomal DNA testing results to DNA.Land and participate in research in exchange for having access to their tools.

Let’s step through the process and take a look at their offerings.

If you’re interested in participating, the first thing to do is to register and the next step is the consent process.

Consent

If you are considering participation, or uploading your DNA to utilize their ethnicity or matching services, you must sign their consent form. Needless to say, you need to fully read the consent form before clicking to authorize, at DNA.Land and anyplace else.

Please note that you can click on any image to enlarge.

Upload Your File

After you click to approve and continue, you’ll be asked to select a file to upload. I chose Family Tree DNA Build 37.

Research Questions

Given that the focus of DNA.Land is medical research, you’ll be asked questions about yourself and your ancestry, such as your birthdate, as well as that of your parents.

I joined the Breast Cancer research and authorized researchers to contact me.

You are then asked, “Is this file your file?” DNA.Land wants to be absolutely sure you are providing information for your own file, and not someone else’s.

DNA.Land then asks questions related to your family and breast cancer. I answered the questions, agreed to be contacted if there are questions and joined the study.

You’ll answer questions about whether your parent, full siblings or children have been diagnosed with breast cancer, as well as questions about yourself.

I was excited to see that I was the 7,456th person to join the breast cancer initiative, but then I realized that their goal is 25,000 by the end of 2017. They have a LONG way to go. Please consider joining.

Your Personal Page

Your personal page includes your file status, the research projects in which you are participating as well as reports available.

Your file status is shown at the bottom of the page, including links to learn more.

About Imputation

DNA.Land was the first vendor to attempt imputation. I wrote about imputation in the article, Concepts – Imputation. I also wrote about matching with a vendor who utilizes imputation in the article Imputation Matching Comparison.

Imputation affects your matches, segment sizes and the quality of those matches. If you’re not familiar with imputation, I would strongly suggest reading these articles now.

While I’m incredibly supportive of the breast cancer and research initiatives, I’m less excited about the accuracy of imputation relative to genetic genealogy. Let’s take a look.

My Reports

Now that I’m done with setup and questions, I’m ready to view information about my own DNA results according to DNA.Land. Remember that these results include imputed information, meaning data that was imputed to be mine in regions not tested based on my DNA in regions that have been tested. My Family Tree DNA file that I uploaded held over 700,000 tested locations, and DNA.Land imputes another 38 million locations based on the 700,000 that were actually tested.

You can select from various My Reports options:

  • Find Relatives
  • Find Relatives of Relatives
  • Ancestry Report
  • Trait Prediction Report

Let’s look at each one.

Find Relatives

As of today, just over 70,000 individuals have uploaded, an increase of 10,000 in just under two months, so the site is rapidly growing.

The first page is DNA Relationship Matches. The match below is my closest match to cousin, Karen. I wrote about dissecting this match in the article Imputation Matching Comparison.

You can show or hide the chromosome table at far right. Segments are divided into recent and ancient based on the segment size. I’m not sure I would have used the term “ancient,” but what DNA.Land is trying to convey is that more often, smaller segments are older than larger segments.

I have 11 High Certainty matches and 1 speculative.

The information page explains more. Click on the “Learn more about the report” link in the upper left hand corner, which displays the following example information.

All reported segments are 3.00 cM or larger.

Very beneficially, my closest match, Karen, showed her GedMatch kit number as her middle name. I utilized her file at GedMatch and her results at DNA.Land to compare raw data file matching and imputed file matching. You can read about the findings in the article, Imputation Matching Comparison.

Based on imputed matching, I’m not sure that today I would have much confidence in matches to the relatives of relatives, but let’s take a look anyway.

Find Relatives of Relatives

Relative of relatives is a big confusing.  Think if it as an alternate to a chromosome browser.  Here’s what their information page says about this feature.

This is a bit confusing. The “via” relative is the person on your match report.

The first person listed, or the “endpoint” relative is the person related to them.

The intersection is the set of intersecting matching segments between you, your match and their match that (apparently) also matches you, or they would not be on this report.

Here’s a Relatives of Relatives match with my strongest match, Karen.

The problem is that the person shown as Karen’s match, Shelley, is not shown as my match.  The common matching segments between the three of us, shown above and below, are very small.  Even though Shelley is a match to Karen, Shelley apparently only matches me on smaller segments, not large enough to pass the DNA.Land threshold for a match.

The problem is that all of the above matching and triangulating segments above are imputed segments and don’t show up as legitimate matches at GedMatch between me and Karen, so they can’t be a valid three way match between me, Karen and Shelley.

In other words, these aren’t valid matches at all, even before the discussion about whether they are identical by descent, chance or population.  Therefore, these have to be matches on imputed regions, not through actual testing.

The certainty field is also confusing.  I initially though that the “high” certainty pertained to the three way match certainty, but it doesn’t.  Certainty means the certainty of the match between your match (the via relative) and the endpoint (their match) and has nothing to do with the certainty of the segments matching the three of you being relevant.

If you’d like to utilize this information, please read the information pages VERY CAREFULLY and be sure you understand what the information, is, and isn’t, telling you.

Ancestry Report (Ethnicity)

The Ancestry report is DNA.Land’s ethnicity report.

Looking at the map, it’s difficult to compare the DNA.Land results to other vendors, because they have Scandinavia divided into half, with the westernmost part of Scandinavia included in their Northwest Europe orange grouping, the light green designated as Finnish with the olive green as North Slavic. Other vendors include Norway and all of Sweden as part of Scandinavia.

One nice thing is that the population reference locations are shown on the map below, even for non-matching reference groups.

In my case, DNA.Land missed my Native American entirely.

The chart below represents my known and proven genealogy as compared to the DNA.land ethnicity results.

You can see how DNA.Land stacks up against the rest of the vendors, below.

Trait Prediction Report

The trait report requires an additional consent form. In essence, DNA.Land wants to make sure you really want to see your traits, that you understand what you are going to see and that you understand how traits are calculated and displayed.

DNA.land offers several traits you can select from.

But there’s a hitch.

Before you can see your traits, you get to answer a survey. In all fairness, DNA.Land’s purpose is medical research, and the reports participants receive are free.

My eye color is accurate, BUT, I also just told them that my eye color is dark brown during the questions. Not terribly confidence inspiring – but my confidence increased  after reviewing all of the information they provided about the science behind my actual trait prediction.

The eye color map, above, is something unique I haven’t seen elsewhere. I find this kind of information quite interesting.

Even though I did provide DNA.Land with the “brown eyes” answer, this chart makes me feel much better, because they shared the science behind my result with me. Therefore, I now feel much better, because, based on the science, it’s apparent that they didn’t just parrot my result back to me.

There is also a “what if my result is wrong” link. After all, science is all about continuing to learn and to think we know everything there is to know about genetics is foolhearty.

Yea, I like this a LOT!

If you’d like to read more about how genetic research takes place, read the interesting article titled Is there a Firefox Gene? Yes, that’s the Firefox browser, and yes, this is a real study. Take a look. It’s really quite interesting and written in plain English.

Summary

DNA.Land has a different purpose than other DNA matching and ethnicity sites. As a nonprofit, DNA.Land offers their matching and ethnicity services as an enticement to genetic genealogists who have paid to test elsewhere to upload their results to DNA.land and in doing so, to participate in medical research.

DNA.Land is absolutely up front about their mission. The features are “complimentary,” so to speak, meant to be enticements to consumers to participate and contribute their DNA results.

Given that, it’s difficult to be terribly upset with DNA.Land’s features and services.

DNA.Land has a nice user interface and some nice display features. Their eye color mapping isn’t found elsewhere, and other similar features would make great teaching tools. Their help pages are informative and educational.

Imputation concerns me. Imputation for medical research doesn’t directly affect me today, although it may someday, given that imputed data is used for research.

Imputed data does affect your results at Promethease if you choose to utilize your imputed results as input for any application that reports your academic and/or medical mutations. You can read about that in the article, Imputation Analysis Using Promethease.

Imputation affects matching for genetic genealogy negatively. While I didn’t discuss matching quality in this article, I did in the article Imputation Matching Comparison, which I would encourage you to read if you are attempting to utilize the DNA.Land matching function seriously for genealogy. I would encourage genetic genealogists to simply match at the vendor where they tested, or at Family Tree DNA which accepts uploads (Ancestry V1, V2 and 23andMe V3, V4) from other vendors, or at GedMatch for serious match analysis.

My suggestion to DNA.Land for matching would be to eliminate the smaller segments entirely, especially if they are a result of imputation and not actual matching DNA segments. In my limited experiment, DNA.Land seemed to do relatively well on matching and utilizing larger segments.

Ethnicity results at DNA.Land, called Ancestry Results, are divided oddly, with Northwestern Europe including all of the British Isles, western Scandinavia along with the northwest quadrant of continental Europe. This division makes it extremely difficult to compare to other vendors’ results.

DNA.Land seems to report an unrealistic amount of Southern European, but again, it’s somewhat difficult to tell where the dividing line occurs. It would be easier if their ethnicity map were overlayed on a current map of Europe showing country boundaries. DNA.Land missed my Native entirely.

It would be interesting to know how much of the ethnicity results are calculated on actual DNA and how much through imputation. Ethnicity results tend to be dicey enough in the industry as a whole without adding the uncertainty of imputation on top. Having said that, given how popular ethnicity testing has become, offering another ethnicity opinion is probably a large draw for attracting people to upload and participate in research at DNA.Land.

Some of the trait information is quite interesting and new traits will probably be equally so, although I wonder how much of that information is imputed as well. In other words, I don’t know if the results are actually “mine” through testing or could be in error. The good news is that DNA.Land provides the genetic locations where the trait analysis is compiled, allowing you to utilize a service like Promethease which provides the ability in some cases to confirm imputed data if you upload your actual tested files from testing vendors.

For all results, I would very much like to see a toggle where you can toggle between actual match results and match results derived from imputation.

I would also like to see some research about the accuracy of imputation as compared to non-imputed results. Clearly this would be available through research efforts like my own at Promethease, exome and full genome sequencing.

In a nutshell, DNA.Land provides an interesting free service so long as you don’t want to take the results terribly seriously for genealogy research. If any of the results are important or you want to depend upon them for accuracy, verify elsewhere with actual tested data.

It’s important to remember at DNA.Land that their real goal isn’t to provide a product or to compete with the testing vendors. Their features are a “thank you” or enticement for consumers to contribute their autosomal data for medical research, some of which may be “for profit.”  Companies aren’t going to participate in research initiatives that don’t hold the potential for profit.

I really didn’t need an enticement, but I’m grateful nonetheless.

Additionally, DNA.Land has provided an important first foray into imputation and allowed us to compare imputed data with tested data. I know that wasn’t their goal, but I’m glad to have the opportunity to learn and work with real life examples. My own. I would encourage you to do the same.

Be Part of the Cure

The last thing I have to say is that I truly hope and pray that the Breast Cancer Deadline shown as 2020 is a real and achievable goal.

I welcome the opportunity for anything I can to do help eliminate that horrific scourge that has affected so many women. Breast cancer has taken the lives of my family members and friends, as I’m sure it has yours, and I would like nothing better than to participate in some small way in wiping it off the face of the earth. DNA.Land is one way you can help, and it costs you absolutely nothing.

______________________________________________________________________

Standard Disclosure

This standard disclosure appears at the bottom of every article in compliance with the FTC Guidelines.

Hot links are provided to Family Tree DNA, where appropriate. If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase. Clicking through the link does not affect the price you pay. This affiliate relationship helps to keep this publication, with more than 850 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc. In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received. In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product. I only recommend products that I use myself and bring value to the genetic genealogy community. If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA.

Imputation Analysis Utilizing Promethease

We know in the genetics industry that imputation is either coming or already here for genetic genealogy. I recently wrote two articles, here and here, explaining imputation and its (apparent) effects on matching – or at least the differences between vendors who do and don’t utilize imputation on the segments that are set forth as matches.

I will be writing shortly about my experience utilizing DNA.Land, a vendor who encourages testers to upload their files to be shared with medical researchers. In return, DNA.Land provides matching information and ethnicity – but they do impute results that you don’t have based on“typical” DNA that is generally inherited with the DNA you do have.

Aside from my own curiosity and interest in health, I have been attempting to determine the relative accuracy of imputation.

Promethease is a third party site that provides consumers who upload their autosomal DNA files with published information about their SNPs, mutations, either bad, good or neither, meaning just information. This makes Promethease the perfect avenue for comparing the accuracy of the imputed data provided by DNA.Land compared against the data provided by Promethease generated from files from vendors who do not impute.

Even better, I can directly compare the autosomal file from Family Tree DNA that I uploaded to DNA.Land with my resulting DNA.Land file after DNA.Land imputed another 38 million locations. I can also compare the DNA.Land results to an extensive exome test that provided results for some 50 million locations.

Uploading all of the files from various testing vendors separately to Promethease allows me to see which of the mutations imputed by DNA.Land are accurate when compared to actual DNA tests, and if the imputed mutations are accurate when the same location was tested by any vendor.

In addition to the typical genetic genealogy vendors, I’ve also had my DNA exome sequenced, which includes the 50 million locations in humans most likely to mutate.  This means those locations should be the locations most likely to be imputed by DNA.Land.

Finally, at Promethease, I can combine my results from all the vendors where I actually tested to provide the greatest coverage of actually tested locations, and then compare to DNA.Land – providing the most comprehensive comparison.

I will utilize the testing vendors’ actual results to check the DNA.Land imputed results.

Let’s see what the results produce.

The Test Process

The method I used for this comparison was to upload my Family Tree DNA autosomal raw data file to DNA.Land. DNA.Land then took the 700,000+ locations that I did test for at Family Tree DNA, and imputed more than 38 million additional locations, raising my tested and imputed number of locations to about 39 million.

Then, I downloaded and uploaded my huge DNA.Land file, utilizing the Promethease instructions.

In order to do a comparison against the imputed data that DNA.Land provided, I uploaded files from the following vendors individually, one at a time, to Promethease to see which versions of the files provided which results – meaning which mutations the files produced by actual testing at vendors could confirm in the DNA.Land imputed results.

  • DNA.Land (imputed)
  • Genos – Exome testing of 50 million medically relevant locations
  • Ancestry V1 test
  • Ancestry V2 test
  • Family Tree DNA
  • 23andMe V3 test
  • 23andMe V4 test
  • Combined file of all non-imputed vendor files

Promethease provides a wonderful feature that enables users to combine multiple vendors’ files into one run. As a final test, I combined all of my non-imputed files into one run in order to compare all of my non-imputed results, together, with DNA.Land’s imputed results.

Promethease provides results that fall into 3 categories:

  • Bad – red
  • Good – green
  • Grey – “not set” – neither bad nor good, just information

Promethease does not provide diagnoses of any form, just information from the published literature about various mutations and genetic markers and what has been found in research, with links to the sources through SNPedia.

Results

I compiled the following chart with the results of each individual file, plus a combined file made up of all of the non-imputed files.

The results are quite interesting.

The combined run that included all of the vendors files except for DNA.Land provided more “bad” results than the imputed DNA.Land file. 

I expected that the Genos exome test would have covered all of the locations tested by the three genetic genealogy vendors, but clearly not, given that the combined run provides more results than the Genos exome run by itself. In fact, the total locations reported is 80,607 for the combined run and the Genos run alone was only 45,595.

DNA.Land only imputed 34,743 locations that returned results.

Comparison for Accuracy

Now, the question is whether the DNA.Land imputed results are accurate.

Due to the sheer number of results, I focused only on the “bad” results, the ones that would be most concerning, to get an idea of how many of the DNA.Land results were tested in the original uploaded file (from FTDNA) and how many were imputed. Of the imputed locations, I determined how many are accurate by comparing the DNA.Land results to the combined testing results. My hope, is, of course, that most of the locations found in the DNA.Land imputed file are also to be found in one of the files tested at the vendors, and therefore covered in the combined file run.

I combined my results from the following 3 runs into a common spreadsheet, color coding each result differently:

  • First, I wanted to see the locations reported as “bad” that were actually tested at FTDNA. By comparing the FTDNA locations with the DNA.Land imputed file, we know that DNA.Land was NOT imputing those locations, and conversely, that they WERE imputing the rest of the locations.
  • Second, I wanted to know if locations imputed by DNA.Land and reported as “bad” had been tested by any testing company, and if DNA.Land’s imputation was accurate as compared to an actual test.

You can read more about how Promethease reports results, here.

I’m showing two results in the spreadsheet example, below.

White row=FTDNA test result
Yellow row =DNA.Land result
Blue row=combined test result

These two examples show two mutations that are ranked as “bad” for the same condition. This result really only tells me that I metabolize some things slower than other people. Reading the fine print tells me this as well:

The proportion of slow and rapid metabolizers is known to differ between different ethnic populations. In general, the slow metabolizer phenotype is most prevalent (>80%) in Northern Africans and Scandinavians, and lowest (5%) in Canadian Eskimos and Japanese. Intermediate frequencies are seen in Chinese populations (around 20% slow metabolizers), whereas 40 – 60% of African-Americans and most non-Scandinavian Caucasians are slow metabolizers.[PMID 16416399]

Many of you are probably slow metabolizers too.

I used this example to illustrate that not everything that is “bad” is going to keep you awake at night.

The first mutation, gs140 is found in the DNA.Land file, but there is no corresponding white row, representing the original Family Tree DNA report, meaning that DNA.Land imputed the result. GS140 is, however, tested by some vendor in the combined file. The results do match (verified by actually comparing the results individually) and therefore, the DNA.Land imputation was accurate as noted in the DNA.Land Analysis column at far right.

In the second example, gs154 is reported by DNA.Land, but since it’s also reported by Family Tree DNA in the white row, we know that this value was NOT imputed by DNA.Land, because this was part of the originally uploaded file. Therefore, in the Analysis column, I labeled this result as “tested at FTDNA.”

Analysis

I analyzed each of the rows of “bad” results found in the DNA.Land file by comparing them first to the FTDNA file and then the Combined file. In some cases, I needed to return to the various vendor results to see which vendor had done the testing on a specific location in order to verify the result from the individual run.

So, how did DNA.Land do with imputing data as compared with actual tested results?

# Results % Comment
Tested, not Imputed 171 38.6 This “bad” location was tested at FTDNA and uploaded, so we know it was reported accurately at DNA.Land and not imputed.
Total Imputed* 272 61.4 Meaning total of “bad” results not tested at FTDNA, so not uploaded to DNA.Land, therefore imputed.
Imputed Correctly 259 95.22 This result was verified to match a tested location in the combined run.
Imputed, but not tested elsewhere 6 2.21 Accuracy cannot be confirmed.
Conflict 3 1.10 DNA.Land results cannot be verified due to an error of some sort – two of these three are probably accurate.
Imputed Incorrectly 4 1.47 Confirmed by the combined run where the location was actually tested at multiple vendor(s).
Not reported, and should have been 1 0.37 4 other vendor tests showed this mutation, including FTDNA which was uploaded to DNA.Land. Therefore these locations should have been reported by the DNA.Land file.

*The total number of “bad” results was 443, 171 that were tested and 272 that were imputed. Note that the percentages of imputations shown below the “Total Imputed” number of 272 are calculated based on the number of locations imputed, not on the total number of locations reported.

Concerns, Conflicts and Errors

It’s worth noting that my highest imputed “bad” risk from DNA.Land was not tested elsewhere, so cannot be verified, which concerns me.

On the three results where a conflict exists, all 3 locations were tested at multiple other vendors, and the results at the other vendors where the results were actually tested show different results from each other, which means that the DNA.Land result cannot be verified as accurate. Clearly, an error exists in at least one of the other tests.

In one conflict case, this error has occurred at 23andMe on either their V3 or V4 chip, where the results do not match each other.

In a second conflict case, two of the other vendors agree and the DNA.Land imputation is likely accurate, as it matches 2 of the three other vendor tests.

In the third conflict case, the Ancestry V2 test confirms one of the 23andMe results, which matches the DNA.Land results, so the DNA.Land result is likely accurate.

Of the 4 results that were confirmed to be imputed incorrectly, all locations were tested at multiple vendors. In two cases, the location was confirmed on two other tests and in the other two cases, the location was tested at three vendors. The testing vendor’s results all matched each other.

Summary

Overall, given the problems found with both DNA.Land and MyHeritage, who both impute, relative to genetic genealogy matching, I was surprised to find that the DNA.Land imputed health results were relatively accurate.

I expected the locations reported in the FTDNA file to be reported accurately by DNA.Land, because that data was provided to them. In one case, it was not.

Of the 272 “bad” results imputed, 259, or 95.22% could be verified as accurate.

Six could not be verified, and three were in conflict, but of those, it’s likely that two of the three were imputed accurately by DNA.Land. The third can’t be verified. This totals 3.31% of the imputed results that are ambiguous.

Only 1.47% were imputed incorrectly. If you add the .37% for the location that was not reported and should have been, and make the leap of assumption that the one of three in conflict is in error, DNA.Land is still just over a 2% confirmed error rate.

I can see why Illumina would represent to the vendors that imputation technology is “very accurate.” “Very” of course is relative, pardon the pun, in genetic genealogy, to how well matching occurs, not only when the new GSA chip is compared to another GSA chip, but when the new GSA version is compared to the older OmniExpress version. For backards compatibility between the chip versions, imputation must be utilized. Thanks a lot Illumina (said in my teenage sarcastic voice).

Since DNA.Land accepts files from all the vendors on all chips, for DNA.Land to be able to compare all locations in all vendors’ files against each other, the “missing” data in each file must be imputed. MyHeritage is doing something similar (having hired one of the DNA.Land developers), and both vendors have problems with genetic genealogy matching.

This begs the question of why the matching is demonstrably so poor for genetic genealogy. I’ve written about this phenomenon here, Kitty Cooper wrote about it here and Leah Larkin here.

Based on this comparison, each individual DNA.Land imputed file would contain about a 2% error rate of incorrectly imputed data, assuming the error rate is the same across the entire file, so a combined total of 4% for two individuals, if you’re just looking at individual SNPs. Perhaps entire segments are being imputed incorrectly, given that we know that DNA is inherited in segments. If that is the case, and these individual SNPs are simply small parts of entire segments that are imputed incorrectly, they might account for an equal number of false positive matches. In other words, if 10 segments are imputed incorrectly for me, that’s 10 segments reporting false positive matches I’ll have when paired against anyone who receives the same imputed data. However, that doesn’t explain the matches that are legitimate (on tested segments) and aren’t found by the imputing vendors, and it doesn’t explain an erroneous match rate that appears to be significantly higher than the 2-4% per cent found in this comparison.

I’ll be writing about the DNA.Land matching comparison experience shortly.

I would strongly prefer that medical research be performed on fully tested individuals. I realize that the cost of encouraging consumers to upload their data, and then imputing additional information is much less expensive than actual testing. However, accuracy is an issue and a 2% error rare, if someone is dealing with life-saving and life-threatening research could be a huge margin of error, from the beginning of the project, based on faulty imputation – which could be eliminated by simply testing people. This seems like an unnecessary risk and faulty research just waiting to happen. This error rate is on top of the actual sequencing error rate, but sequencing errors will be found in different locations in individuals, not on the same imputed segment assigned to multiple people in population groups. Imputation errors could be cumulative in one location, appearing as a hot spot when in reality, it’s an imputation error.

As related to genetic genealogy, I don’t think imputation and genetic genealogy are good bedfellows. DNA.Land’s matching was even worse when it was initially introduced, which is one reason I’ve waited so long to upload and write about the service.

Unfortunately, with Illumina obsoleting the OmniExpress chip, we’re not going to have a choice, sooner than later. All vendors who utilized the OmniExpress chip are being forced off, either onto the GSA chip or to an Exome or full sequence chip. The cost of sequencing for anything other than the GSA chip is simply more than the genetic genealogy market will stand, not to mention even larger compatibility issues. My Genos Exome test cost $499 just a few months ago and still sells for that price today.

The good news is that utilizing imputation, we will still receive matches, just less accurate matches when comparing the new chip to older versions, and when using imputation.

New testers will never know the difference. Testers not paying close attention won’t notice or won’t realize either. That leaves the rest of us “old timers” who want increased accuracy and specification, not less, flapping in the wind along with the vendors who don’t sell our test results into the medical arena and have no reason to move to the new GSA platform other than Illumina obsoleting the OmniExpress chip.

Like I said, thanks Illumina.

Promethease 2017

For those who aren’t acquainted with Promethease, they are a service that provides a comprehensive “health” report based on autosomal DNA results uploaded from the major testing companies.  You receive an informational report about your genetic health risks and some traits as reported in numerous academic studies that are archived and categorized relative to genetic information.

Quoting Promethease, they say:

Promethease is a literature retrieval system that builds a personal DNA report based on connecting a file of DNA genotypes to the scientific findings cited in SNPedia.

Please note that if you took the 23andMe test for health information, Promethease provides you with exponentially more information – and you can utilize your 23andMe file to obtain that information. If you tested at any of the other major vendors, you can utilize those reports as well, either separately or together.

I originally wrote about Promethease in December of 2013. At that time, I uploaded the files from various testing vendors to Promethease one by one and compared the results. Four years in this industry is forever, so I’m doing this again to share my results. There is a lot more information available from Promethease, and the testing vendors files have changed too.

This time, I’m uploading my Exome data, a very different DNA test than consumers receive at the typical genetic genealogy testing companies. You can read about this test in the article, Genos – A Medically Focused DNA Exome Test.

Keep in mind that even if you uploaded your autosomal file before and received results, Promethease adds new references as they become available, so your information from a couple years ago is out of date. The good news is that Promethease is very inexpensive, typically between $5 and $10.

What Does Promethease Do?

Promethease reports raw information, meaning that they do not massage or interpret this information for you. In other words, for a particular disease or trait, if there are 10 articles that report on that particular DNA location, based on your SNPs (one from Mom and one from Dad,) 2 information sources might indicate a possible increased risk, 5 might be neither good nor bad, and 3 might indicate a possible lower risk. Promethease shows you all 10, not distilling the 10 into a compilation or summary of your risk factors.

Promethease is NOT DIAGNOSTIC. Only a physician can diagnose complex illnesses correctly, incorporating genetic information.

I should note here that very few mutations are absolute, with a few notable exceptions like Huntington’s Chorea. In most cases, just because you have a specific mutation indicating an elevated risk, does NOT means you’ll ever get that disease. Other factors such as lifestyle, nutrition and environment are involved, as well as elements we don’t yet understand today.

Important

If you decide to submit your information to Promethease, it’s very important for you to understand and take the following points into consideration:

  • The DNA tests you are uploading are not medical tests. They do not test all possible locations. Furthermore, occasionally, tests run by different vendors produce different results at specific locations. Those differing results can and do produce conflicting information about traits or mutations associated with that location.
  • Testing errors occur.
  • Promethease results are not diagnostic, only informational.
  • If you are concerned about your health, either before or after testing, you should take the results and your concerns to your physician for interpretation in your particular situation. (I am not a doctor. This is common sense.)
  • The field of genetics, including medical genetics, is undergoing a steep learning curve. Very little is cast in concrete. Sometimes we learn that what we thought we knew previously was incorrect.
  • You cannot “unsee” what you will learn about your own genes and mutations. Be sure you really want to know before you participate in this type of learning.

Having said all of that, let me share some interesting information about my results with you.

My Results

I recently uploaded my Genos Exome test, which tests a LOT more locations than any of the typical genetic genealogy tests – 50 million as compared to less than 1 million in the typical genealogy autosomal tests. I utilized Genos results on purpose, after developing a DVT (deep vein thrombosis – a blood clot) in my leg after a fall and after a flight, both. I wanted to see if I carry any genetic propensity for developing DVTs, or if it had just been a combination of circumstantial factors other than genetics. I discovered that I don’t carry any known genetic predisposition to DVTs or other clotting issues. Neither did my parents, at least not that I know of.

Promethease returned a total of 45,595 locations with informational results of some type, meaning those locations had been found in medical or academic literature housed at SNPedia.

Of those locations, 41,766 were “good,” 104 were “bad,” and 3,725 were “not set” meaning neither good nor bad.

The great news is that you don’t need to read all of the results, but can search or see any results that are relevant for any particular word. So you can sort for “clot,” “thrombosis” or even something like “kidney” or “liver,” in addition to seeing and sorting information in various other ways.

Most everyone looks at their “bad” mutations first. Fortunately, most people don’t have many and often bad doesn’t really mean “bad,” simply a slight elevated risk.

The Process

When considering whether or not to utilize Promethease, you might want to take a look at the video provided on their main web page.

Of course, to proceed, you’ll need to actually READ the legal verbiage and click that you accept to proceed.

Please click on any image to enlarge.

Promethease said this, and I said this, but I want to say it again.

You may discover things that will worry you. You may find conflicting information about a trait or mutation. You cannot “unsee” this once you’ve seen it.

Vendor Upload Files

You can upload your results from any of the vendors, noted above, as well as see example reports. Occasionally when a vendor changes something in their file, or changes testing chips, there will be a delay while Promethease makes adaptations. As I write this today, Promethease is working to handle the 23andMe V5 chip which is the new Illumina GSA chip.

One VERY interesting feature is that you can upload your results from multiple vendors and Promethease will combine them to provide you with one report. This costs a little more – mine was $17.  If I didn’t taken the Exome test, I would have uploaded all of my other files for combination.

Actually, after I uploaded my Exome file and ran the results, I did upload the rest. I’ll be publishing an article shortly with the results of that comparison titled “Imputation Analysis Utilizing Promethease.”

I would NOT utilize files from vendors that impute DNA data and include imputed information in your download data file. Of the vendors listed, I know that today MyHeritage makes use of imputed data on their site, but only downloads your actual tested locations, so their file would be fine to use.

DNA.Land facilitates uploads from other vendors, then imputes additional results, allowing you to download the imputed data file. I would not suggest using this file.

At this link, Promethease discusses imputation and says that some results from imputed information will be unreliable. I would recommend AGAINST using the imputed data. You will have no idea which results are from your real test and from the imputed data, that isn’t actually yours.

If you choose to use an imputed file, I would suggest that you also separately run the same file that you uploaded to DNA.Land in order to see which of your report locations are real and which are imputed by comparing the results of the two separate runs.

Promethease provides information, shown below, about the various vendors and vendor files. Note that some are not accepted, and some are less reliable.

It’s interesting that the Family Tree DNA Big Y test is accepted in addition to their Family Finder autosomal test.

The Results

Processing takes about 20 minutes and you will receive an e-mail when processing is complete with a link to both view and download your report. Click “download” which provides a zip file. Results are only held on the Promethease website for 45 days unless you make a selection to retain your results on the website to enable future processing.

Promethease provides a nice tutorial, both via their video and onscreen as well.

Click the link in the e-mail to see your results.

Promethease results are color coded with red being a probable pathogenic result (meaning potentially concerning, or bad), green being a good or protective result and grey meaning not assigned as bad or good – just information.

In total, I had the following categories of results utilizing my Genos file:

  • Probably Pathogenic, red – 104
  • Not Set, grey – 3725
  • Protective, green – 41,766

Please note that while red equals bad, that’s a relative thing. For example, having a “bad” mutation that MAY elevate your risk to 1.2% from 1% isn’t really terribly concerning. Most of my “bad” mutations fall into this category, and may have good offsetting mutations for the same condition. So, no jumping to conclusions allowed and no panicking, please.

Here’s my first result. It’s grey.

Whew, I’m a female!

You can see that I have 45,595 results returned, 10 being shown on the screen and the rest of the 45,595 being held in reserve and visible by sorting any number of ways, including by key word in the search box shown top right above. Below, lots of other sort options.

Here’s an example of a “grey” result when I searched for “eye color.”

You can see that this genotype, or result, as described, influences eye color.  I carry the nucleotides G and G, noted beside the rs id, where an A is required for the propensity to blue or grey eyes.

From this information, we know that my children received a G from me, because that’s all I have to give them, but if they received an A from their father, their eyes could be blue or grey.

Caution

If you don’t want to know, and I mean really know about your medically connected mutations, don’t utilize Promethease.

If you are prone to anxiety or worry, this might not be for you. If you are a hypochondriac, for Heaven’s sake, don’t use Promethease.

If you do want to know, run Promethease occasionally, because new SNPs are being added to the data base regularly.

Be cautious about introducing this entire report into your medical record, especially given that the state of health care and pre-existing condition coverage is uncertain in the future in the US. However, be vigilant and inform your physician of anything that might be relevant to your conditions or treatment, or especially any variants that might help them diagnose a condition or tailor medications.

While I am providing an informational article about this product, I am not specifically recommending or suggesting that anyone utilize Promethease.  That is an individual decision that everyone needs to make personally after weighing all the factors listed above, plus any not mentioned.

______________________________________________________________________

Standard Disclosure

This standard disclosure will now appear at the bottom of every article in compliance with the FTC Guidelines.

Hot links are provided to Family Tree DNA, where appropriate. If you wish to purchase one of their products, and you click through one of the links in an article to Family Tree DNA, or on the sidebar of this blog, I receive a small contribution if you make a purchase. Clicking through the link does not affect the price you pay. This affiliate relationship helps to keep this publication, with more than 850 articles about all aspects of genetic genealogy, free for everyone.

I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc. In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received. In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

I will never link to a product about which I have reservations or qualms, either about the product or about the company offering the product. I only recommend products that I use myself and bring value to the genetic genealogy community. If you wonder why there aren’t more links, that’s why and that’s my commitment to you.

Thank you for your readership, your ongoing support and for purchasing through the affiliate link if you are interested in making a purchase at Family Tree DNA.

Genos – A Medically Focused DNA Exome Test

On June 21, 2016, I placed an order for a DNA test with a new company, Genos at http://www.genosresearch.com. The first week of October I received my results.

Genos is a new type of testing company, focused not on genealogy, but on the human exome and medical conditions. Of course, that doesn’t mean that the genetic genealogy community might not find a way to utilize these tests in the future – but today this test is not useful genealogically.

A typical genetic genealogy autosomal test tests between roughly 500,000 and 900,000 locations to compare to others to determine kinship. These are the most variable locations in our genome, the ones most likely to differ from each other and be genealogically useful.

Exome testing, on the other hand, tests 50 million locations – the ones most often medically relevant and the ones we know the most about. Testing the 99% or so of our genome that is exactly like every other human is pointless, for either genetic genealogy or medicine.

What is an Exome?

What is the exome? Genos explains.

genos1

genos2

Let’s step through the ordering process, then look at my results. They are very interesting.

What is Genos?

Before ordering, I did a bit of research on what Genos offers, what makes them different, and what kind of potential they might have to help me understand my own genes and conditions that makes me unique.

Let’s take a look.

Founders

Genos was founded by these two men.

genos3

The next tab is Values, and I’m really impressed, especially with number 4, below.

genos4

And the Genos Vision:

genos5

genos6

Let’s move to the Product page.

Product

genos7

genos8

genos9

genos10

genos11

Ordering

genos12

genos13

genos14

Your DNA at Genos is yours, entirely, and you can choose when, where and if you want to participate in studies, unlike Ancestry and 23andMe where the consent you MUST AGREE TO in order to activate your kit includes allowing them to sell and profit from your DNA.

Family Tree DNA does NOT sell your DNA. Family Tree DNA does not want the genetic genealogy community to associate genetic genealogy testing with medical testing, because of concerns that it might discourage some people from testing for genealogy.

genos15

genos16

Before ordering, as with any DNA sequencing product or service, please read the Genos Terms of Service here. The Privacy Policy is here and the Terms of Use are here. These are all actually different parts of one larger document titled “Genos Legal Policies.”

As far as I’m concerned, this is the overarching important sentence:

We do not sell, lease, or rent your User Information without your explicit consent.

genos17

Also keep in mind that as with all companies, policies can and do change over time – and it’s the consumer’s responsibility to stay current with the policies of any company you do business with.

A New Business Model

Genos is trying a new business model both in terms of testing the entire exome and in terms of allowing participants to actively participate in selecting research projects, so I decided to be on the frontier of this brave new world. You pay for the sequencing, but the results are yours, forever, whether you participate in medical research projects or not, and Genos doesn’t sell your DNA or otherwise share your DNA results without your permission. You own it and you control it. Period.

I want to contribute to and facilitate research, but I want to select the research projects in which I choose to participate. I don’t feel that it’s ethically or morally right for a company to in essence capture and co-opt my DNA by holding forth the lure of my ancestors as bait. Both Ancestry and 23andMe participate in this unsavory practice. The Genos model very specifically does NOT do that.

Right now, the Genos Exome sequencing product and services are in BETA.

I was the 98th person to order this test, although I’m sure many more have ordered since June.

Let’s take a look at my results.

My Personal Logo

The first thing Genos does is to introduce you to your genome by creating a personal logo for you, if you select that option. I did, of course.

genos18

The circle twirled and locations on my chromosome lit up, like tiny fireflies. I wish I had taken a video.

genos19

Next, my unique logo, derived from my DNA, was displayed beside my name.

genos20

genos21

OK, that was fun, but now, let’s look at the data and what, as a consumer, I receive.

The Four Options

Your results are broken down into 4 categories. You can explore your genome, click on Health Identity, view the News or look at the educational Genomics 101 section.

genos22

I first spent a few minutes looking at Genomics 101 which is professional and well written. It includes chapters covering questions like, “What is a gene?”

genos23

The News section includes links to articles you may find of interest. Of course, I was dying to see my results, so I quickly moved on to the “Explore Genome” tab, where I saw the Map Your Genome page. So, let’s map my genome.

Map Your Genome

Genos compares your genome of the standardized Genome Reference Consortium reference model.

On the page, below, Genos shows me the 44,154 locations where I vary from the reference model, of which only 773 of these have known medical affiliations or mentions in medical papers. The key word here, of course, is KNOWN. The rest of the variants could be family differences, recently introduced or perhaps from generations back in time. Those locations may not be medically significant, or they may be, but we just don’t know how yet. Time and research will tell.

genos24

Out of the 50 million loci (locations) sequenced, I have 773 variants which are certainly of interest and may or may not be relevant medically.

I wondered what happens when a new variant is discovered to be medically relevant or found in a new paper. Would my 773 become 774, or is this a static page, really only relevant to today? I wrote and asked Genos, and discovered that their customer support is very prompt, courteous and helpful. Here’s what they had to say.

At no additional cost to you, as the information in ClinVar (the NIH sponsored database) is updated with new assessments and new discoveries, your data will be automatically updated through our digital experience. This ensures that you are always aware of the latest literature available.

This is great news, making this product infinitely useful (medically) into the future.

You can view all of your chromosomes with the chromosome number and the number of identified variants present on each chromosome, below.  Please note that you can click on any image to see a larger version.

genos25

Genos allows you to browse your medically relevant variants and what they may mean. The results are broken down into “Conditions” and “Traits,” as seen at right, above.

The Conditions are health related, but just because you have a mutation that may be associated in literature with a particular condition, that does NOT mean you have or will ever be diagnosed with that condition. In fact, as you can see, the literature itself is often contradictory. We don’t always understand what makes one person get a disease while another person does not.

For this reason, nearly every page that involves conditions also contains a link to genetic counselors along with cautionary messages that succinctly warn people against assuming that variant=disease. It doesn’t.

Individual Chromosomes

You can explore each chromosome individually.

genos26

I clicked on variant 1, on chromosome 1, above.

If I click on the NEXN with the right arrow, I see the display below.

genos27

If I click on the G>A which means the normal G nucleotide at this location has been replaced with an A in my case, I see the following:

genos28

I can then read more about this gene and the mutational variant.

genos29

I must tell you that I feel very empowered by having my own genetic information at my fingertips that was previously entirely unavailable to me, or available only through a medical provider, if at all.

Conditions

Moving now to the Conditions link on the right hand side of the main page, I can see the following conditions, grouped by category.

genos30

You can explore the Conditions link for conditions associated with your variants, the Traits or the Variants themselves.

By clicking on the icons, you can see how many variants you have in each category. The first category is allergies.

genos31

For example, here is one of my Conditions. I’ve chosen to share this one because you can tell by looking at my picture that I am clearly NOT albino.

genos32

Still, I carry at least one mutation associated with this condition.

Estes Publicity

Almost every single page carries this warning verbiage, which is proven by my albinism mutation and my somewhat younger photo when my hair was still its original color!

genos33

Variants

Variants are divided into groups.

genos34

Most of my findings are benign. Whew!!!

genos35

This is an example of one of my benign variants.

genos36

You can see that while this mutation is mostly benign, or green, some papers show it to fall into the other risk categories.

Please note the verbiage at the bottom of the screen.

“What is believed to be true today may be disproven tomorrow.” That’s part of why I’m participating in this type of testing.

The screen for each variant goes on to provide the links to the studies themselves, which may or may not agree, so you can read and digest for yourself. Please, unless you’re an MD, do not attempt to be your own doctor!

genos37

Traits

The Traits at Genos are the same traits that are tested and reported by other testing firms as well.

genos38

genos39

Like other genetic values, variants and results, these may or may not be accurate. My hair is very thick, as you can see from my photo, I taste bitter very well, unfortunately, and my skin is not light…at least not for someone primarily Caucasian. Some of these traits are clearly subjective. They make for interesting party conversation.

Health Identity

The next section of the website if for Health Identity. This is where you provide information about yourself and your health history. 

genos40

If you’re going to participate in this type of endeavor, it’s important to provide Genos with as much information as possible. That’s one avenue for Genos to know who would might be a good candidate for specific kinds of research.

Research

While there aren’t any research projects yet underway today, there will be in the future.

genos41

And last but not least…

Genetic Counselors

If you discover something you would like to know more about, or that concerns you, you can make contact with a genetic counselor through the Genos site.

genos42

genos43

Caveat

I am, personally, very much an advocate of genetic research, when it is preformed ethically, transparently and with full disclosure. As far as I’m concerned, Genos absolutely fits that bill.

However, if someone were prone to anxiety or hypochondria, this type of testing might not be a good fit.

I’m not prone to either, and I have a very high risk tolerance level, but I still am inclined to spend quite a bit of time looking at the variants that aren’t benign. If you are in the “don’t want to know” camp, then don’t test. Bottom line.

Let me say this again.

Don’t test if you really don’t want to know.

You cannot put the genic back into the bottle once it’s out.

genie-bottle

Exome testing is different than genetic genealogy testing and has the potential to reveal information which may be frightening or distressing to some people, which is why I shared my results with you in such detail.

Looking to the Horizon

Having said that, I find exome testing absolutely fascinating. I would like to see if my children have the same variants that I do. Did they inherit those from me or did those variants bite the dust in my generation? Are there variants that I carry one of and my children have two, meaning their father contributed one as well? What does this mean, health-wise, potentially, for my grandchildren?  What did they inherit?

Of course, today, exome comparisons between individuals are not possible at Genos (or elsewhere), but perhaps in the future?

Could this type of testing be a step forward in identifying conditions and diseases not yet “discovered” as we define them today? Some mutations affect particular individual family lines negatively, and sometimes fatally. Can exome testing help these families, if not today, then tomorrow? Exome testing certainly has that and a lot more potential.

I’m excited about being able to select and participate in research studies with the ability for the researchers to contact me to follow up many years into the future, if need be. The new Genos model allows citizens willing to have their exome sequenced the opportunity to help shape the future of medical understanding and potentially, contribute to treatments and cures – in addition to learning a great deal about their own DNA and literally what makes them tick.  Which studies you participate in and what happens to your DNA is entirely within your control.

I hope that a research project (or projects) that I participate in eradicates a disease or diseases so that my descendants will only read about the disease in history books and will hopefully know that their ancestor played a small role in disease extermination.

In the mean time, I’m very actively participating in exome testing to attempt to track and identify a fatal family mutation that has plagued one family for at least 4 generations.  Of course, we don’t yet know how successful we will be.  However, exome testing, especially at this price, holds promise that was never available before. I hope that what today is literally a life and death experiment will one day be a standard testing routine available to any family with this type of issue.  I’ll let you know the outcome in a few months.

Longevity Pedigree Chart

The longevity pedigree isn’t my original idea, but it’s fun and can be quite useful, so I’ve created a longevity pedigree chart for both my mother’s and father’s lines.

Longevity pedigree mother

People are taking different approaches. Some people are just putting the age at death on a blank pedigree chart.  You can find a nice selection of blank forms here.

One person created a new “tree” in their genealogy software with the death ages, which is very crisp and attractive. I thought about that approach, but I would have added their cause of death, and then I would want to know who died.  So rather than recreate all of that, I just printed the first several generations of what I have, which of course includes their name, and wrote in the age at death and cause of death by hand.  I know, not very high tech, but sometimes the best solution is just plain old fashioned.

This exercise was interesting in several ways.

First, I never realized that my mother lost both of her grandfathers to tuberculosis before the days of antibiotics. One died years before her birth and the other when she was a toddler.  I always thought that my grandfather, her father, had contracted tuberculosis from his father-in-law, but it could have been from his father instead.

Looking at these pedigree charts and realizing how many lives could have been saved with antibiotics certainly gives me pause to reflect.

Tuberculosis is not genetic, but other diseases and conditions are. Of course, the generations closest to you are the most likely to have a genetic effect.  The good news is that those are the generations for whom you’re most likely to be able to obtain cause of death information.

I never realized until I put together this chart that I don’t know my mother’s grandmother’s cause of death. Nora died in 1949, so it’s certainly available.  I’ve just never sent for her death certificate.

Longevity pedigree father

In my father’s line, his two sisters, his father William George Estes, John R. Estes and John R.’s father, George Estes (generation 7, off the chart) all lived to be within sniffing distance of 100.  Some were a couple of years older, some a couple of years younger.  Anyone who lived that long has earned the right to have “old age” as a cause of death.

Sometimes, I didn’t know an exact cause of death, but I did know something of the person’s health and I was “betting” that their disease was involved in some way with their death. Ruthy Dodson was so disabled by arthritis that she had to be carried out of her house down the mountain to live with her son – so she wasn’t very mobile and that had to affect her health.

And then there was poor Joel Vannoy. That poor man truly was “insane” and the family did everything they could to protect him from himself.  He couldn’t be left alone for a minute for fear he’s burn the house down or create some other dangerous situation.  Now, he could have just died of being an old man eating too much bacon and good gravy in Appalachia – or he could have died of something more directly related to his disease.  I’ll never know because, believe me, that situation was NOT discussed.  I found the evidence in the court records.  I’m just hoping I didn’t inherit that insanity part.  Hold the comments please!

One disease was quite unusual and I couldn’t find any references online. Looking at Lazarus Dodson who died at 66 of “breast disease,” I have to wonder about male breast cancer.

Wars were devastating to families. Samuel Claxton died of either tuberculosis or “bronchitis” that he contracted during the Civil War.  It wasn’t counted as a war fatality, because he didn’t die until a few years later after he returned home.

Lots of women disappeared from pedigree charts during their child-bearing years. We don’t know why, and it might not have been related to childbirth, but that’s the best bet.

After Elizabeth Campbell’s untimely death between 25 and 28, of unknown causes, her husband brought their children back from Alabama and left them with her parents in Tennessee to raise. I don’t know if she would have been relieved or appalled.

And what happened to Charles Speak and Ann McKee who both died between 1840 and 1850, between the ages of 36-46, leaving a passel of children for relatives to raise. This makes me wonder about epidemics.

And speaking of epidemics, both Joseph Bolton and his wife Margaret Claxton died of the Spanish flu within a few days of each other. The family story says that they put Old Joseph’s body in the barn, since it was winter and the ground was frozen, until Margaret died so they would only have to have one funeral and put off digging in the frozen ground as long as possible.

Some causes of death are really suggestive of other things. For example, George Drechsel died of pneumonia, but he had been becoming increasingly senile and weak.  Even today, pneumonia is often an official cause of death, but something like cancer or heart disease is actually underlying the situation.  Pneumonia isn’t hereditary, but the proclivity for cancer and heart disease certainly can be.

Now that I’ve created these longevity pedigree charts, what am I going to do with them? I’m going to give them to my children for one thing, so that they can have this information for their own medical records.  I will probably give it to my physician as well.

Have fun creating your own longevity pedigree chart. You’ll assuredly learn something about your family that you didn’t know!

The Best and Worst of 2015 – Genetic Genealogy Year in Review

2015 Best and Worst

For the past three years I’ve written a year-in-review article. You can see just how much the landscape has changed in the 2012, 2013 and 2014 versions.

This year, I’ve added a few specific “award” categories for people or firms that I feel need to be specially recognized as outstanding in one direction or the other.

In past years, some news items, announcements and innovations turned out to be very important like the Genographic Project and GedMatch, and others, well, not so much. Who among us has tested their full genome today, for example, or even their exome?  And would you do with that information if you did?

And then there are the deaths, like the Sorenson database and Ancestry’s own Y and mitochondrial data base. I still shudder to think how much we’ve lost at the corporate hands of Ancestry.

In past years, there have often been big new announcements facilitated by new technology. In many ways, the big fish have been caught in a technology sense.  Those big fish are autosomal DNA and the Big Y types of tests.  Both of these have created an avalanche of data and we, personally and as a community, are still trying to sort through what all of this means genealogically and how to best utilize the information.  Now we need tools.

This is probably illustrated most aptly by the expansion of the Y tree.

The SNP Tsunami Growing Pains Continue

2015 snp tsunami

Going from 800+ SNPs in 2012 to more than 35,000 SNPs today has introduced its own set of problems. First, there are multiple trees in existence, completely or partially maintained by different organizations for different purposes.  Needless to say, these trees are not in sync with each other.  The criteria for adding a SNP to the tree is decided by the owner or steward of that tree, and there is no agreement as to the definition of a valid SNP or how many instances of that SNP need to be in existence to be added to the tree.

This angst has been taking place for the most part outside of the public view, but it exists just the same.

For example, 23andMe still uses the old haplogroup names like R1b which have not been used in years elsewhere. Family Tree DNA is catching up with updating their tree, working with haplogroup administrators to be sure only high quality, proven SNPs are added to branches.  ISOGG maintains another tree (one branch shown above) that’s publicly available, utilizing volunteers per haplogroup and sometimes per subgroup.  Other individuals and organizations maintain other trees, or branches of trees, some very accurate and some adding a new “branch” with as little as one result.

The good news is that this will shake itself out. Personally, I’m voting for the more conservative approach for public reference trees to avoid “pollution” and a lot of shifting and changing downstream when it’s discovered that the single instance of a SNP is either invalid or in a different branch location.  However, you have to start with an experimental or speculative tree before you can prove that a SNP is where it belongs or needs to be moved, so each of the trees has its own purpose.

The full trees I utilize are the Family Tree DNA tree, available for customers, the ISOGG tree and Ray Banks’ tree which includes locations where the SNPs are found when the geographic location is localized. Within haplogroup projects, I tend to use a speculative tree assembled by the administrators, if one is available.  The haplogroup admins generally know more about their haplogroup or branch than anyone else.

The bad news is that this situation hasn’t shaken itself out yet, and due to the magnitude of the elephant at hand, I don’t think it will anytime soon. As this shuffling and shaking occurs, we learn more about where the SNPs are found today in the world, where they aren’t found, which SNPs are “family” or “clan” SNPs and the timeframes in which they were born.

In other words, this is a learning process for all involved – albeit a slow and frustrating one. However, we are making progress and the tree becomes more robust and accurate every year.

We may be having growing pains, but growing pains aren’t necessarily a bad thing and are necessary for growth.

Thank you to the hundreds of volunteers who work on these trees, and in particular, to Alice Fairhurst who has spearheaded the ISOGG tree for the past nine years. Alice retired from that volunteer position this year and is shown below after receiving two much-deserved awards for her service at the Family Tree DNA Conference in November.

2015 ftdna fairhurst 2

Best Innovative Use of Integrated Data

2015 smileDr. Maurice Gleeson receives an award this year for the best genealogical use of integrated types of data. He has utilized just about every tool he can find to wring as much information as possible out of Y DNA results.  Not only that, but he has taken great pains to share that information with us in presentations in the US and overseas, and by creating a video, noted in the article below.  Thanks so much Maurice.

Making Sense of Y Data

Estes pedigree

The advent of massive amounts of Y DNA data has been both wonderful and perplexing. We as genetic genealogists want to know as much about our family as possible, including what the combination of STR and SNP markers means to us.  In other words, we don’t want two separate “test results” but a genealogical marriage of the two.

I took a look at this from the perspective of the Estes DNA project. Of course, everyone else will view those results through the lens of their own surname or haplogroup project.

Estes Big Y DNA Results
https://dna-explained.com/2015/03/26/estes-big-y-dna-results/

At the Family Tree DNA Conference in November, James Irvine and Maurice Gleeson both presented sessions on utilizing a combination of STR and SNP data and various tools in analyzing their individual projects.

Maurice’s presentation was titled “Combining SNPs, STRs and Genealogy to build a Surname Origins Tree.”
http://www.slideshare.net/FamilyTreeDNA/building-a-mutation-history-tree

Maurice created a wonderful video that includes a lot of information about working with Y DNA results. I would consider this one of the very best Y DNA presentations I’ve ever seen, and thanks to Maurice, it’s available as a video here:
https://www.youtube.com/watch?v=rvyHY4R6DwE&feature=youtu.be

You can view more of Maurice’s work at:
http://gleesondna.blogspot.com/2015/08/genetic-distance-genetic-families.html

James Irvine’s presentation was titled “Surname Projects – Some Fresh Ideas.” http://www.slideshare.net/FamilyTreeDNA/y-dna-surname-projects-some-fresh-ideas

Another excellent presentation discussing Y DNA results was “YDNA maps Scandinavian Family Trees from Medieval Times and the Viking Age” by Peter Sjolund.
http://www.slideshare.net/FamilyTreeDNA/ydna-maps-scandinavian-family-trees-from-medieval-times-and-the-viking-age

Peter’s session at the genealogy conference in Sweden this year was packed. This photo, compliments of Katherine Borges, shows the room and the level of interest in Y-DNA and the messages it holds for genetic genealogists.

sweden 2015

This type of work is the wave of the future, although hopefully it won’t be so manually intensive. However, the process of discovery is by definition laborious.  From this early work will one day emerge reproducible methodologies, the fruits of which we will all enjoy.

Haplogroup Definitions and Discoveries Continue

A4 mutations

Often, haplogroup work flies under the radar today and gets dwarfed by some of the larger citizen science projects, but this work is fundamentally important. In 2015, we made discoveries about haplogroups A4 and C, for example.

Haplogroup A4 Unpeeled – European, Jewish, Asian and Native American
https://dna-explained.com/2015/03/05/haplogroup-a4-unpeeled-european-jewish-asian-and-native-american/

New Haplogroup C Native American Subgroups
https://dna-explained.com/2015/03/11/new-haplogroup-c-native-american-subgroups/

Native American Haplogroup C Update – Progress
https://dna-explained.com/2015/08/25/native-american-haplogroup-c-update-progress/

These aren’t the only discoveries, by any stretch of the imagination. For example, Mike Wadna, administrator for the Haplogroup R1b Project reports that there are now over 1500 SNPs on the R1b tree at Family Tree DNA – which is just about twice as many as were known in total for the entire Y tree in 2012 before the Genographic project was introduced.

The new Y DNA SNP Packs being introduced by Family Tree DNA which test more than 100 SNPs for about $100 will go a very long way in helping participants obtain haplogroup assignments further down the tree without doing the significantly more expensive Big Y test. For example, the R1b-DF49XM222 SNP Pack tests 157 SNPs for $109.  Of course, if you want to discover your own private line of SNPs, you’ll have to take the Big Y.  SNP Packs can only test what is already known and the Big Y is a test of discovery.

                       Best Blog2015 smile

Jim Bartlett, hands down, receives this award for his new and wonderful blog, Segmentology.

                             Making Sense of Autosomal DNA

segmentology

Our autosomal DNA results provide us with matches at each of the vendors and at GedMatch, but what do we DO with all those matches and how to we utilize the genetic match information? How to we translate those matches into ancestral information.  And once we’ve assigned a common ancestor to a match with an individual, how does that match affect other matches on that same segment?

2015 has been the year of sorting through the pieces and defining terms like IBS (identical by state, which covers both identical by population and identical by chance) and IBD (identical by descent). There has been a lot written this year.

Jim Bartlett, a long-time autosomal researcher has introduced his new blog, Segmentology, to discuss his journey through mapping ancestors to his DNA segments. To the best of my knowledge, Jim has mapped more of his chromosomes than any other researcher, more than 80% to specific ancestors – and all of us can leverage Jim’s lessons learned.

Segmentology.org by Jim Bartlett
https://dna-explained.com/2015/05/12/segmentology-org-by-jim-bartlett/

When you visit Jim’s site, please take a look at all of his articles. He and I and others may differ slightly in the details our approach, but the basics are the same and his examples are wonderful.

Autosomal DNA Testing – What Now?
https://dna-explained.com/2015/08/07/autosomal-dna-testing-101-what-now/

Autosomal DNA Testing 101 – Tips and Tricks for Contact Success
https://dna-explained.com/2015/08/11/autosomal-dna-testing-101-tips-and-tricks-for-contact-success/

How Phasing Works and Determining IBS vs IBD Matches
https://dna-explained.com/2015/01/02/how-phasing-works-and-determining-ibd-versus-ibs-matches/

Just One Cousin
https://dna-explained.com/2015/01/11/just-one-cousin/

Demystifying Autosomal DNA Matching
https://dna-explained.com/2015/01/17/demystifying-autosomal-dna-matching/

A Study Using Small Segment Matching
https://dna-explained.com/2015/01/21/a-study-utilizing-small-segment-matching/

Finally, A How-To Class for Working with Autosomal Results
https://dna-explained.com/2015/02/10/finally-a-how-to-class-for-working-with-autosomal-dna-results/

Parent-Child Non-Matching Autosomal DNA Segments
https://dna-explained.com/2015/05/14/parent-child-non-matching-autosomal-dna-segments/

A Match List Does Not an Ancestor Make
https://dna-explained.com/2015/05/19/a-match-list-does-not-an-ancestor-make/

4 Generation Inheritance Study
https://dna-explained.com/2015/08/23/4-generation-inheritance-study/

Phasing Yourself
https://dna-explained.com/2015/08/27/phasing-yourself/

Autosomal DNA Matching Confidence Spectrum
https://dna-explained.com/2015/09/25/autosomal-dna-matching-confidence-spectrum/

Earlier in the year, there was a lot of discussion and dissention about the definition of and use of small segments. I utilize them, carefully, generally in conjunction with larger segments.  Others don’t.  Here’s my advice.  Don’t get yourself hung up on this.  You probably won’t need or use small segments until you get done with the larger segments, meaning low-hanging fruit, or unless you are doing a very specific research project.  By the time you get to that point, you’ll understand this topic and you’ll realize that the various researchers agree about far more than they disagree, and you can make your own decision based on your individual circumstances. If you’re entirely endogamous, small segments may just make you crazy.  However, if you’re chasing a colonial American ancestor, then you may need those small segments to identify or confirm that ancestor.

It is unfortunate, however, that all of the relevant articles are not represented in the ISOGG wiki, allowing people to fully educate themselves. Hopefully this can be updated shortly with the additional articles, listed above and from Jim Bartlett’s blog, published during this past year.

Recreating the Dead

James Crumley overlapping segments

James and Catherne Crumley segments above, compliments of Kitty Cooper’s tools

As we learn more about how to use autosomal DNA, we have begun to reconstruct our ancestors from the DNA of their descendants. Not as in cloning, but as in attributing DNA found in multiple descendants that originate from a common ancestor, or ancestral couple.  The first foray into this arena was GedMatch with their Lazarus tool.

Lazarus – Putting Humpty Dumpty Back Together Again
https://dna-explained.com/2015/01/14/lazarus-putting-humpty-dumpty-back-together-again/

I have taken a bit of a different proof approach wherein I recreated an ancestor, James Crumley, born in 1712 from the matching DNA of roughly 30 of his descendants.
http://www.slideshare.net/FamilyTreeDNA/roberta-estes-crumley-y-dna

I did the same thing, on an experimental smaller scale about a year ago with my ancestor, Henry Bolton.
https://dna-explained.com/2014/11/10/henry-bolton-c1759-1846-kidnapped-revolutionary-war-veteran-52-ancestors-45/

This is the way of the future in genetic genealogy, and I’ll be writing more about the Crumley project and the reconstruction of James Crumley in 2016.

                         Lump Of Coal Award(s)2015 frown

This category is a “special category” that is exactly what you think it is. Yep, this is the award no one wants.  We have a tie for the Lump of Coal Award this year between Ancestry and 23andMe.

               Ancestry Becomes the J.R. Ewing of the Genealogy World

2015 Larry Hagman

Attribution : © Glenn Francis, http://www.PacificProDigital.com

Some of you may remember J.R. Ewing on the television show called Dallas that ran from 1978 through 1991. J.R. Ewing, a greedy and unethical oil tycoon was one of the main characters.  The series was utterly mesmerizing, and literally everyone tuned in.  We all, and I mean universally, hated J.R. Ewing for what he unfeelingly and selfishly did to his family and others.  Finally, in a cliffhanger end of the season episode, someone shot J.R. Ewing.  OMG!!!  We didn’t know who.  We didn’t know if J.R. lived or died.  Speculation was rampant.  “Who shot JR?” was the theme on t-shirts everyplace that summer.  J.R. Ewing, over time, became the man all of America loved to hate.

Ancestry has become the J.R. Ewing of the genealogy world for the same reasons.

In essence, in the genetic genealogy world, Ancestry introduced a substandard DNA product, which remains substandard years later with no chromosome browser or comparison tools that we need….and they have the unmitigated audacity to try to convince us we really don’t need those tools anyway. Kind of like trying to convince someone with a car that they don’t need tires.

Worse, yet, they’ve introduced “better” tools (New Ancestor Discoveries), as in tools that were going to be better than a chromosome browser.  New Ancestor Discoveries “gives us” ancestors that aren’t ours. Sadly, there are many genealogists being led down the wrong path with no compass available.

Ancestry’s history of corporate stewardship is abysmal and continues with the obsolescence of various products and services including the Sorenson DNA database, their own Y and mtDNA database, MyFamily and most recently, Family Tree Maker. While the Family Tree Maker announcement has been met with great gnashing of teeth and angst among their customers, there are other software programs available.  Ancestry’s choices to obsolete the DNA data bases is irrecoverable and a huge loss to the genetic genealogy community.  That information is lost forever and not available elsewhere – a priceless, irreplaceable international treasure intentionally trashed.

If Ancestry had not bought up nearly all of the competing resources, people would be cancelling their subscriptions in droves to use another company – any other company. But there really is no one else anymore.  Ancestry knows this, so they have become the J.R. Ewing of the genealogy world – uncaring about the effects of their decisions on their customers or the community as a whole.  It’s hard for me to believe they have knowingly created such wholesale animosity within their own customer base.  I think having a job as a customer service rep at Ancestry would be an extremely undesirable job right now.  Many customers are furious and Ancestry has managed to upset pretty much everyone one way or another in 2015.

AncestryDNA Has Now Thoroughly Lost Its Mind
https://digginupgraves.wordpress.com/2015/04/02/ancestrydna-has-now-thoroughly-lost-its-mind/

Kenny, Kenny, Kenny
https://digginupgraves.wordpress.com/2015/04/10/kenny-kenny-kenny/

Dear Kenny – Any Suggestions for our New Ancestor Discoveries?
https://digginupgraves.wordpress.com/2015/04/13/dear-kenny-any-suggestions-for-our-new-ancestor-discoveries/

RIP Sorenson – A Crushing Loss
https://dna-explained.com/2015/05/15/rip-sorenson-a-crushing-loss/

Of Babies and Bathwater
http://www.legalgenealogist.com/blog/2015/05/17/of-babies-and-bathwater/

Facts Matter
http://legalgenealogist.com/blog/2015/05/03/facts-matter/

Getting the Most Out of AncestryDNA
https://dna-explained.com/2015/02/02/getting-the-most-out-of-ancestrydna/

Ancestry Gave Me a New DNA Ancestor and It’s Wrong
https://dna-explained.com/2015/04/03/ancestry-gave-me-a-new-dna-ancestor-and-its-wrong/

Testing Ancestry’s Amazing New Ancestor DNA Claim
https://dna-explained.com/2015/04/07/testing-ancestrys-amazing-new-ancestor-dna-claim/

Dissecting AncestryDNA Circles and New Ancestors
https://dna-explained.com/2015/04/09/dissecting-ancestrydna-circles-and-new-ancestors/

Squaring the Circle
http://legalgenealogist.com/blog/2015/03/29/squaring-the-circle/

Still Waiting for the Holy Grail
http://legalgenealogist.com/blog/2015/04/05/still-waiting-for-the-holy-grail/

A Dozen Ancestors That Aren’t aka Bad NADs
https://dna-explained.com/2015/04/14/a-dozen-ancestors-that-arent-aka-bad-nads/

The Logic and Birth of a Bad NAD (New Ancestor Discovery)
https://dna-explained.com/2015/08/12/the-logic-and-birth-of-a-bad-nad-new-ancestor-discovery/

Circling the Shews
http://legalgenealogist.com/blog/2015/05/24/circling-the-shews/

Naughty Bad NADs Sneak Home Under Cover of Darkness
https://dna-explained.com/2015/08/24/naughty-bad-nads-sneak-home-under-cover-of-darkness/

Ancestry Shared Matches Combined with New Ancestor Discoveries
https://dna-explained.com/2015/08/28/ancestry-shared-matches-combined-with-new-ancestor-discoveries/

Ancestry Shakey Leaf Disappearing Matches: Now You See Them – Now You Don’t
https://dna-explained.com/2015/09/24/ancestry-shakey-leaf-disappearing-matches-now-you-see-them-now-you-dont/

Ancestry’s New Amount of Shared DNA – What Does It Really Mean?
https://dna-explained.com/2015/11/06/ancestrys-new-amount-of-shared-dna-what-does-it-really-mean/

The Winds of Change
http://legalgenealogist.com/blog/2015/11/08/the-winds-of-change/

Confusion – Family Tree Maker, Family Tree DNA and Ancestry.com
https://dna-explained.com/2015/12/13/confusion-family-tree-maker-family-tree-dna-and-ancestry-com/

DNA: good news, bad news
http://legalgenealogist.com/blog/2015/01/11/dna-good-news-bad-news/

Check out the Alternatives
http://legalgenealogist.com/blog/2015/12/09/check-out-the-alternatives/

GeneAwards 2015
http://www.tamurajones.net/GeneAwards2015.xhtml

23andMe Betrays Genealogists

2015 broken heart

In October, 23andMe announced that it has reached an agreement with the FDA about reporting some health information such as carrier status and traits to their clients. As a part of or perhaps as a result of that agreement, 23andMe is dramatically changing the user experience.

In some aspects, the process will be simplified for genealogists with a universal opt-in. However, other functions are being removed and the price has doubled.  New advertising says little or nothing about genealogy and is entirely medically focused.  That combined with the move of the trees offsite to MyHeritage seems to signal that 23andMe has lost any commitment they had to the genetic genealogy community, effectively abandoning the group entirely that pulled their collective bacon out of the fire. This is somehow greatly ironic in light of the fact that it was the genetic genealogy community through their testing recommendations that kept 23andMe in business for the two years, from November of 2013 through October of 2015 when the FDA had the health portion of their testing shut down.  This is a mighty fine thank you.

As a result of the changes at 23andMe relative to genealogy, the genetic genealogy community has largely withdrawn their support and recommendations to test at 23andMe in favor of Ancestry and Family Tree DNA.

Kelly Wheaton, writing on the Facebook ISOGG group along with other places has very succinctly summed up the situation:
https://www.facebook.com/groups/isogg/permalink/10153873250057922/

You can also view Kelly’s related posts from earlier in December and their comments at:
https://www.facebook.com/groups/isogg/permalink/10153830929022922/
and…
https://www.facebook.com/groups/isogg/permalink/10153828722587922/

My account at 23andMe has not yet been converted to the new format, so I cannot personally comment on the format changes yet, but I will write about the experience in 2016 after my account is converted.

Furthermore, I will also be writing a new autosomal vendor testing comparison article after their new platform is released.

I Hate 23andMe
https://digginupgraves.wordpress.com/2015/06/14/i-hate-23andme/

23andMe to Get Makeover After Agreement With FDA
https://dna-explained.com/2015/10/21/23andme-to-get-a-makeover-after-agreement-with-fda/

23andMe Metamorphosis
http://throughthetreesblog.tumblr.com/post/131724191762/the-23andme-metamorphosis

The Changes at 23andMe
http://legalgenealogist.com/blog/2015/10/25/the-changes-at-23andme/

The 23and Me Transition – The First Step
https://dna-explained.com/2015/11/05/the-23andme-transition-first-step-november-11th/

The Winds of Change
http://legalgenealogist.com/blog/2015/11/08/the-winds-of-change/

Why Autosomal Response Rate Really Does Matter
https://dna-explained.com/2015/02/24/why-autosomal-response-rate-really-does-matter/

Heads Up About the 23andMe Meltdown
https://dna-explained.com/2015/12/04/heads-up-about-the-23andme-meltdown/

Now…and not now
http://legalgenealogist.com/blog/2015/12/06/now-and-not-now/

                             Cone of Shame Award 2015 frown

Another award this year is the Cone of Shame award which is also awarded to both Ancestry and 23andMe for their methodology of obtaining “consent” to sell their customers’, meaning our, DNA and associated information.

Genetic Genealogy Data Gets Sold

2015 shame

Unfortunately, 2015 has been the year that the goals of both 23andMe and Ancestry have become clear in terms of our DNA data. While 23andMe has always been at least somewhat focused on health, Ancestry never was previously, but has now hired a health officer and teamed with Calico for medical genetics research.

Now, both Ancestry and 23andMe have made research arrangements and state in their release and privacy verbiage that all customers must electronically sign (or click through) when purchasing their DNA tests that they can sell, at minimum, your anonymized DNA data, without any further consent.  And there is no opt-out at that level.

They can also use our DNA and data internally, meaning that 23andMe’s dream of creating and patenting new drugs can come true based on your DNA that you submitted for genealogical purposes, even if they never sell it to anyone else.

In an interview in November, 23andMe CEO Anne Wojcicki said the following:

23andMe is now looking at expanding beyond the development of DNA testing and exploring the possibility of developing its own medications. In July, the company raised $79 million to partly fund that effort. Additionally, the funding will likely help the company continue with the development of its new therapeutics division. In March, 23andMe began to delve into the therapeutics market, to create a third pillar behind the company’s personal genetics tests and sales of genetic data to pharmaceutical companies.

Given that the future of genetic genealogy at these two companies seems to be tied to the sale of their customer’s genetic and other information, which, based on the above, is very clearly worth big bucks, I feel that the fact that these companies are selling and utilizing their customer’s information in this manner should be fully disclosed. Even more appropriate, the DNA information should not be sold or utilized for research without an informed consent that would traditionally be used for research subjects.

Within the past few days, I wrote an article, providing specifics and calling on both companies to do the following.

  1. To minimally create transparent, understandable verbiage that informs their customers before the end of the purchase process that their DNA will be sold or utilized for unspecified research with the intention of financial gain and that there is no opt-out. However, a preferred plan of action would be a combination of 2 and 3, below.
  2. Implement a plan where customer DNA can never be utilized for anything other than to deliver the services to the consumers that they purchased unless a separate, fully informed consent authorization is signed for each research project, without coercion, meaning that the client does not have to sign the consent to obtain any of the DNA testing or services.
  3. To immediately stop utilizing the DNA information and results from customers who have already tested until they have signed an appropriate informed consent form for each research project in which their DNA or other information will be utilized.

And Now Ancestry Health
https://dna-explained.com/2015/06/06/and-now-ancestry-health/

Opting Out
http://legalgenealogist.com/blog/2015/07/26/opting-out/

Ancestry Terms of Use Updated
http://legalgenealogist.com/blog/2015/07/07/ancestry-terms-of-use-updated/

AncestryDNA Doings
http://legalgenealogist.com/blog/2015/07/05/ancestrydna-doings/

Heads Up About the 23andMe Meltdown
https://dna-explained.com/2015/12/04/heads-up-about-the-23andme-meltdown/

23andMe and Ancestry and Selling Your DNA Information
https://dna-explained.com/2015/12/30/23andme-ancestry-and-selling-your-dna-information/

                      Citizen Science Leadership Award   2015 smile

The Citizen Science Leadership Award this year goes to Blaine Bettinger for initiating the Shared cM Project, a crowdsourced project which benefits everyone.

Citizen Scientists Continue to Push the Edges of the Envelope with the Shared cM Project

Citizen scientists, in the words of Dr. Doron Behar, “are not amateurs.” In fact, citizen scientists have been contributing mightily and pushing the edge of the genetic genealogy frontier consistently now for 15 years.  This trend continues, with new discoveries and new ways of viewing and utilizing information we already have.

For example, Blaine Bettinger’s Shared cM Project was begun in March and continues today. This important project has provided real life information as to the real matching amounts and ranges between people of different relationships, such as first cousins, for example, as compared to theoretical match amounts.  This wonderful project produced results such as this:

2015 shared cM

I don’t think Blaine initially expected this project to continue, but it has and you can read about it, see the rest of the results, and contribute your own data here. Blaine has written several other articles on this topic as well, available at the same link.

Am I Weird or What?
https://dna-explained.com/2015/03/07/am-i-weird-or-what/

Jim Owston analyzed fourth cousins and other near distant relationships in his Owston one-name study:
https://owston.wordpress.com/2015/08/10/an-analysis-of-fourth-cousins-and-other-near-distant-relatives/

I provided distant cousin information in the Crumley surname study:
http://www.slideshare.net/FamilyTreeDNA/roberta-estes-crumley-y-dna

I hope more genetic genealogists will compile and contribute this type of real world data as we move forward. If you have compiled something like this, the Surname DNA Journal is peer reviewed and always looking for quality articles for publication.

Privacy, Law Enforcement and DNA

2015 privacy

Unfortunately, in May, a situation by which Y DNA was utilized in a murder investigation was reported in a sensationalist “scare” type fashion.  This action provided cause, ammunition or an excuse for Ancestry to remove the Sorenson data base from public view.

I find this exceedingly, exceedingly unfortunate. Given Ancestry’s history with obsoleting older data bases instead of updating them, I’m suspecting this was an opportune moment for Ancestry to be able to withdraw this database, removing a support or upgrade problem from their plate and blame the problem on either law enforcement or the associated reporting.

I haven’t said much about this situation, in part because I’m not a lawyer and in part because the topic is so controversial and there is no possible benefit since the damage has already been done. Unfortunately, nothing anyone can say or has said will bring back the Sorenson (or Ancestry) data bases and arguments would be for naught.  We already beat this dead horse a year ago when Ancestry obsoleted their own data base.  On this topic, be sure to read Judy Russell’s articles and her sources as well for the “rest of the story.”

Privacy, the Police and DNA
http://legalgenealogist.com/blog/2015/02/08/privacy-the-police-and-dna/

Big Easy DNA Not So Easy
http://legalgenealogist.com/blog/2015/03/15/big-easy-dna-not-so-easy/

Of Babies and Bathwater
http://www.legalgenealogist.com/blog/2015/05/17/of-babies-and-bathwater/

Facts Matter
http://legalgenealogist.com/blog/2015/05/03/facts-matter/

Genetic genealogy standards from within the community were already in the works prior to the Idaho case, referenced above, and were subsequently published as guidelines.

Announcing Genetic Genealogy Standards
http://thegeneticgenealogist.com/2015/01/10/announcing-genetic-genealogy-standards/

The standards themselves:
http://www.thegeneticgenealogist.com/wp-content/uploads/2015/01/Genetic-Genealogy-Standards.pdf

Ancient DNA Results Continue to Amass

“Moorleiche3-Schloss-Gottorf” by Commander-pirx at de.wikipedia – Own work. Licensed under CC BY-SA 3.0 via Commons

Ancient DNA is difficult to recover and even more difficult to sequence, reassembling tiny little blocks of broken apart DNA into an ancient human genome.

However, each year we see a few more samples and we are beginning to repaint the picture of human population movement, which is different than we thought it would be.

One of the best summaries of the ancient ancestry field was Michael Hammer’s presentation at the Family Tree DNA Conference in November titled “R1B and the Peopling of Europe: an Ancient DNA Update.” His slides are available here:
http://www.slideshare.net/FamilyTreeDNA/r1b-and-the-people-of-europe-an-ancient-dna-update

One of the best ongoing sources for this information is Dienekes’ Anthropology Blog. He covered most of the new articles and there have been several.  That’s the good news and the bad news, all rolled into one. http://dienekes.blogspot.com/

I have covered several that were of particular interest to the evolution of Europeans and Native Americans.

Yamnaya, Light Skinned Brown Eyed….Ancestors?
https://dna-explained.com/2015/06/15/yamnaya-light-skinned-brown-eyed-ancestors/

Kennewick Man is Native American
https://dna-explained.com/2015/06/18/kennewick-man-is-native-american/

Botocudo – Ancient Remains from Brazil
https://dna-explained.com/2015/07/02/botocudo-ancient-remains-from-brazil/

Some Native had Oceanic Ancestors
https://dna-explained.com/2015/07/22/some-native-americans-had-oceanic-ancestors/

Homo Naledi – A New Species Discovered
https://dna-explained.com/2015/09/11/homo-naledi-a-new-species-discovered/

Massive Pre-Contact Grave in California Yields Disappointing Results
https://dna-explained.com/2015/10/20/mass-pre-contact-native-grave-in-california-yields-disappointing-results/

I know of several projects involving ancient DNA that are in process now, so 2016 promises to be a wonderful ancient DNA year!

Education

2015 education

Many, many new people discover genetic genealogy every day and education continues to be an ongoing and increasing need. It’s a wonderful sign that all major conferences now include genetic genealogy, many with a specific track.

The European conferences have done a great deal to bring genetic genealogy testing to Europeans. European testing benefits those of us whose ancestors were European before immigrating to North America.  This year, ISOGG volunteers staffed booths and gave presentations at genealogy conferences in Birmingham, England, Dublin, Ireland and in Nyköping, Sweden, shown below, photo compliments of Catherine Borges.

ISOGG volunteers

Several great new online educational opportunities arose this year, outside of conferences, for which I’m very grateful.

DNA Lectures YouTube Channel
https://dna-explained.com/2015/04/26/dna-lectures-youtube-channel/

Allen County Public Library Online Resources
https://dna-explained.com/2015/06/03/allen-county-public-library-online-resources/

DNA Data Organization Tools and Who’s on First
https://dna-explained.com/2015/09/08/dna-data-organization-tools-and-whos-on-first/

Genetic Genealogy Educational Resource List
https://dna-explained.com/2015/12/03/genetic-genealogy-educational-resource-list/

Genetic Genealogy Ireland Videos
https://www.youtube.com/channel/UCHnW2NAfPIA2KUipZ_PlUlw

DNA Lectures – Who Do You Think You Are
https://www.youtube.com/channel/UC7HQSiSkiy7ujlkgQER1FYw

Ongoing and Online Classes in how to utilize both Y and autosomal DNA
http://www.dnaadoption.com/index.php?page=online-classes

Education Award

2015 smile Family Tree DNA receives the Education Award this year along with a huge vote of gratitude for their 11 years of genetic genealogy conferences. They are the only testing or genealogy company to hold a conference of this type and they do a fantastic job.  Furthermore, they sponsor additional educational events by providing the “theater” for DNA presentations at international events such as the Who Do You Think You Are conference in England.  Thank you Family Tree DNA.

Family Tree DNA Conference

ftdna 2015

The Family Tree DNA Conference, held in November, was a hit once again. I’m not a typical genealogy conference person.  My focus is on genetic genealogy, so I want to attend a conference where I can learn something new, something leading edge about the science of genetic genealogy – and that conference is definitely the Family Tree DNA conference.

Furthermore, Family Tree DNA offers tours of their lab on the Monday following the conference for attendees, and actively solicits input on their products and features from conference attendees and project administrators.

2015 FTDNA lab

Family Tree DNA 11th International Conference – The Best Yet
https://dna-explained.com/2015/11/18/2015-family-tree-dna-11th-international-conference-the-best-yet/

All of the conference presentations that were provided by the presenters have been made available by Family Tree DNA at:
http://www.slideshare.net/FamilyTreeDNA?utm_campaign=website&utm_source=sendgrid.com&utm_medium=email

2016 Genetic Genealogy Wish List

2015 wish list

In 2014, I presented a wish list for 2015 and it didn’t do very well.  Will my 2015 list for 2016 fare any better?

  • Ancestry restores Sorenson and their own Y and mtDNA data bases in some format or contributes to an independent organization like ISOGG.
  • Ancestry provides chromosome browser.
  • Ancestry removes or revamps Timber in order to restore legitimate matches removed by Timber algorithm.
  • Fully informed consent (per research project) implemented by 23andMe and Ancestry, and any other vendor who might aspire to sell consumer DNA or related information, without coercion, and not as a prerequisite for purchasing a DNA testing product. DNA and information will not be shared or utilized internally or externally without informed consent and current DNA information will cease being used in this fashion until informed consent is granted by customers who have already tested.
  • Improved ethnicity reporting at all vendors including ancient samples and additional reference samples for Native Americans.
  • Autosomal Triangulation tools at all vendors.
  • Big Y and STR integration and analysis enhancement at Family Tree DNA.
  • Ancestor Reconstruction
  • Mitochondrial and Y DNA search tools by ancestor and ancestral line at Family Tree DNA.
  • Improved tree at Family Tree DNA – along with new search capabilities.
  • 23andMe restores lost capabilities, drops price, makes changes and adds features previously submitted as suggestions by community ambassadors.
  • More tools (This is equivalent to “bring me some surprises” on my Santa list as a kid.)

My own goals haven’t changed much over the years. I still just want to be able to confirm my genealogy, to learn as much as I can about each ancestor, and to break down brick walls and fill in gaps.

I’m very hopeful each year as more tools and methodologies emerge.  More people test, each one providing a unique opportunity to match and to understand our past, individually and collectively.  Every year genetic genealogy gets better!  I can’t wait to see what 2016 has in store.

Here’s wishing you a very Happy and Ancestrally Prosperous New Year!

2015 happy new year