Personal Genetics – Coming out of the Closet – Ostriches, Eagles and Fear

Ostrich

While most of the people subscribing to this blog are here because of genetic genealogy, genetic genealogy is only one piece of the picture of the future of personal genetics.  Ironically, it’s genetic genealogy that gave low cost genetics a push into the mainstream, some 7 or 8 years before 23andMe, the first personal health genetics company, launched in 2006.

This week, the magazine, ieee Spectrum, of all places, has an absolutely wonderful article, The Gene Machine and Me, about the future of personal genetics.  Many of these types of articles are sensationalized and full of what I call “fear-mongering,” but this one is not only excellently written, it’s accurate and interesting – a triple hitter home run as far as I’m concerned.

I’d like to talk for just a minute or two about the high points in this article, about this emerging technology, what it means to us and about fear.  I’ll be sharing my personal journey down this path.

For those who would like to know how next-generation technology works – by the way – that’s the chip technology employed by Family Tree DNA for the Family Finder product, 23andMe for all of their testing and the National Geographic Geno 2.0 project – this article has a very educational description that is understandable by regular air-breathing humans.  The next-next generation sequencing, discussed here and offered shortly by Ion Torrent, will certainly revolutionize personal genetics much as the Illlumina genotyping chip technology has today.

The benefit of full genomic and exome sequencing, the new technology on the horizon for consumers, is in the information it will tell us about ourselves.  And I’m not referring to genealogy here, although that assuredly will be a big beneficiary of this new world of personal genetics.  For genealogists, there is mention of soon-to-be capabilities of sequencing from one single molecule of DNA.  For those of us with hair brushes and toothbrushes that we’ve been jealously guarding for years now, waiting for the technology to improve to the point where we can obtain the DNA of our dearly departed loved ones, this is going to be our ticket.  As excited as I am about that, that’s not the potential I’m talking about.  I’m talking about information about our own bodies and the potential future foretold in those genes.  Notice the word potential.

The information in our genes is seldom a death sentence.  In rare cases, it is, such as Huntington’s Disease.  If this disease runs in your family, you already know it and testing should be done in conjunction with genetic and/or medical counseling.  For these people, DNA testing will either confirm that they carry that gene, or relieve their mind that they do not.

For the vast majority of us, the information held in our genes it much less dire.  In fact, it’s a good news message, as it will provide us ample warning, an opportunity, to do something differently with our lives to prevent what might otherwise occur.  So it’s not a death sentence, more of a life sentence.  For me, it was an epiphany.  Yes, I took positive action and made dramatic life changes as a result of my DNA test results.  In essence, this is my “coming out” story.

I was one of the first people to order the new 23andMe test when it was first offered, mostly for the genealogy aspect, but as you know, it includes health traits and information.  When I received the results of that test a few years ago, in black and white, where I could not possibly ignore them, the reports indicated that I was at elevated risk for certain conditions.  Those conditions were certainly beginning to manifest themselves in my life.  I was on medication for two of them.  My weight, at the time, was certainly a contributing factor to the development of those conditions.  My sister had died near the age I am now as a result of those conditions.  She looked like me, was built like me, was heavy like me, and very probably carried those exact same genetic risk factors.  Our grandfather died of the same thing about the same age.  Our father had it too, but he died in a car accident – caused by a coronary episode, at age 61.  Seeing this, in black and white, and knowing my family history, I decided to do something to prevent that future, or at least to delay or mitigate it as much as possible.

I lost over 100 pounds and yes, for almost 5 years now, I’ve maintained that weight loss, well except for a pesky 10 or 15 pounds that I fight with regularly.  But still, the 100 pound loss is far more important than the 10-15 pounds I battle with.  I am off of all medication related to those and related conditions.  I’ve changed what and how I eat, and a benefit I really didn’t anticipate is how much better I feel.  You have no idea how much I hate these old pictures of me when I was heavy.  This was taken at National Geographic Headquarters in Washington DC, in 2005, at our DNA Conference.

Me Nat Geo 2005

This next photo is me at one of our Lost Colony archaeology digs about five years later wearing one of my favorite t-shirts that says “Well Behaved Women Seldom Make History.”  All of the genealogists should be laughing about now.  No one wants well-behaved women because you can’t find them in the records.  If my clothes look a bit large, that’s because they are, but that t-shirt was too small before the weight loss.  I could never have done the physical work on those digs, or survived the heat, before losing the weight and going from a size 22 to a 12 in the photo below.  These kinds of activities were all unforeseen benefits of the weight loss.  My sister’s untimely death was not wasted on me, but served as a warning bell, well, more of an unrelenting siren actually, when I saw those DNA results.

???????????????????????????????

I also took my 23andMe results, at least some of them, the ones related to the conditions I was dealing with, to my physician.  I really had to think long and hard about this.  So now, let’s talk about the fear part of the equation.

Fear of genetic results falls pretty much into two categories.  We’ll call these the Ostriches and the Eagles.

My brother was an Ostrich.  Yep, he was, head right in the sand.  He had cancer, his wife had cancer, twice, his daughter, in her 30s, had cancer, yet their decision when offered free DNA testing was to decline – because they didn’t want to know.  Fear of the information itself, fear of knowing, perhaps spurred because of a sense of fate – nothing we can do about it so why know about it.  He also refused to discuss it, so I really can’t tell you why, and he died, of cancer, last year, so that opportunity is past.  Personally, I think knowing about a genetic proclivity would equate to more vigilant monitoring.  And knowing the proclivity didn’t exist would set one’s mind at ease.  I would think you would be a winner either way, but my thinking and his were obviously quite different.

The other group are the Eagles.  They are vigilant and acutely aware of the fact that health based discrimination does exist.  It has been worse in the past than it is now.  This is the reason I had to think long and hard about taking any of my results to my physician.  Once in your medical record, it’s permanent.

Today, GINA, the Genetics Information Nondiscrimination Act, goes a long way to protecting people, especially in an employment situation, but it does not cover everything.

Anyone who has ever tried to obtain health care insurance individually or through a small business knows all too painfully about pre-existing condition exclusions.  Well, the good news is that ObamaCare, love it or hate it, levels that playing field for the “rest of us,” those who either were denied or had to make life and employment decisions based on whether or not they had insurance coverage through a group where discrimination related to pre-existing conditions didn’t exist.

The other good news is that you don’t have to take any of your DNA test results to your doctor.  It’s entirely up to you.  You can test anonymously, using an alias, if you’re really paranoid.  Your results through personal genetic testing are yours and for no one else to see unless you disclose them.

Lastly, let’s talk realistically about the types of insurance that still discriminate – which would be life insurance, extended care insurance, etc.  They are in the business of odds-making.  They are betting you will live and you are betting you will die sooner than later.  As you age, the odds shift, cause let’s face it, eventually, you will die – and they will have to pay out.  Now the only way they can make money is if you pay more premiums during your life than they have to pay out in the end, or they make the premiums so expensive you stop paying, letting the policy lapse, before you die, so they never have to pay.  Of course, if they think the odds are stacked too far in your favor, they simply won’t insure you.  So, if you or your family members have Huntington’s Disease, you’re not likely to be able to get life insurance outside of a group policy, with or without a genetic test.  In fact, there is a questionnaire about your family history when you apply for individual life insurance.

I bought individual life insurance about 10 years ago.  They sent a nurse to the house to draw my blood.  They wanted chain of custody, to know the blood sample was mine, which is not the case with personal DNA testing.  I had to provide ID.  If the insurance company wanted to run a DNA test, prohibitively expensive then, but not in the next few years, they certainly could do so.  Let’s just say it plain and simple – everyone has pre-existing genetic proclivities to something – no one is immune.  These results are not generally black or white either, but expressed as a range.  For example, 4.2 European women out of 100 will develop Restless Leg Syndrome in thier lifetime.  My risk is 5.2, so slightly elevated above the average.  I’m only “above average” in 5 areas, and below average in most.  And the insurance companies are still going to be in the odds-making business – they can’t deny everyone or they won’t have any business – and they will use this new tool as soon as it becomes economically viable.  There is no escaping it.

So yes, the Eagles are right to watch vigilantly – but for now – how much you share and with whom is entirely in your control, so you don’t need to be an Ostrich either.  There is a great deal of good that can come from personal genetic testing, in addition to genetic genealogy.  Knowledge is power.

So now, if you haven’t already, read this great article, The Gene Machine and Me!!!

14 thoughts on “Personal Genetics – Coming out of the Closet – Ostriches, Eagles and Fear

  1. Roberta, this is one of your best ever! Thanks so much for sharing your personal story, it’s very moving. I had no idea that you were ever overweight like that — I’m so glad to know that you shed all those pounds, ’cause we want to have you around for a lot of years to come! I’m going to try to get a lot of my family and friends to read this.

  2. Excellent email. And a great explanation of the life insurance business (I am an insurance professional) in laymen’s terms.

  3. Thank you so much! Overwhelming evidence suggests that I have some strong genetic “problems” with which I am now struggling. My brother has been tested but not for medical reasons. I have not been tested at all. My mother was tested years ago, but won’t share. What I can tell you is that if your surname is Burgess and you came from Old Trap, NC you are extremely likely to have cardiovascular problems and if you don’t suddenly drop dead by around the age of 40 then, you have been proactive by avoiding smoking and drinking. I have oscillated between ostrich and eagle. Even when I spoke with the surname administrator, he had the same problem. Thank you so much for sharing your story. You give me hope. I want to ask, “How did you do it?” I bet it wasn’t some magic pill and that the testing just offers validation of what you suspected all along. Thank you so much for sharing. That couldn’t have been easy.

    • I debated a long time before sharing this story because there is no way to say it other than it’s very personal. Some cardio problems can be mitigated. As with all things like this, genetics is only part of the story – so is lifestyle and environment. It’s a personal decision that everyone needs to make for themselves. Regarding the weight loss, I tried and had tried a variety of methods over the years. I finally did bariatric surgery. Having said that, it is only a tool. If you don’t make other changes as well, you will gain the weight back and be just as unhealthy 5 years later as you were to begin with. It is not a panacea and it is not for everyone. It’s a committment to a new way of life with a powerful tool that is not trivial and alters your body forever. For me, it was a tool of last resort. It has worked for me and as long as I maintain the lifestyle changes, which by the way, I like, it will continue to aid and assist me for the rest of my life, which will be much longer than it would otherwise have been, assuming I don’t get run over by a car or something:)

  4. Cuz,
    I was terriified to take the test, after all all my paternal aunts, grand & great mothers, sister & father had died from cancer….Plus my mother. Since I had no more female organs for the cancer to attack, I figured here comes breast cancer…But you should of heard me yelling when the test came back negative for the gene!
    I also get violently sick taking iron…and happily found out why…crazy I know to be told you have a gene that makes you ill, but it confirmed everything I had been saying for years and no one believed me. Doctor confirmed after I showed her results…so Im not crazy..lol
    You are one of the most caring and beautiful people I know no matter what you weight. But Im really happy that your now healthy and will be around a long time ..because your loved very much!!!
    Dee

    • I know, the decision to test is a hard one. I sat for a long time before I clicked on that Alzheimer’s question. (By the way, you have to click 3 different times to be sure you REALLY, REALLY want to see that answer.) By the way, I don’t carry that gene either so I was greatly relieved, and I presume, so are my children. Love you cuz!

  5. Roberta, thanks for sharing this personal story with your readers.

    I agree with another poster here that it is one of your best. The Ostrich and Eagle analogies were very good. We all need some inspiration and education to learn more about our own DNA as well as that of our loved ones.

    I sincerely believe that Eliza Strickland, the author of the ‘The Gene Machine and Me’ at IEEE Spectrum did not write a journalistic well balanced article. It short changed the Genetic Genealogy community. Her phasing of us as merely “curious” (maybe shw is saying “not serious”), IMHO seemed to trivialize DTC DNA consumers & pro-sumers at 23andMe and other companies.

    OK … I am “curious”. But I am also a Genetic Genealogist, Amateur Anthropologist, Health Conscious Senior, and more (good dancer).

    Eliza Strickland said: “…tests that are sold directly to consumers by companies such as 23andMe, in Mountain View, Calif. These companies market their tests to the “curious” and the health-conscious and offer a very limited set of genetic results, most of which ‘are interesting but not medically significant ‘.”

    With the phrase “market their tests to the curious”, the author appears to be intentionally trivializing a population segment interested in Genetic Genealogy. I doubt she knows much about the Genetic Genealogy community.

    As I am, along with you and others, we are in a cross section of this Genetic Genealogy population also interested in their Genetic Health as well as specific health issues with a dominant genetic causation concerning specific family groups.

    Baylor, the New York Genome Center and other hospitals doing their $100K DNA “deep analysis” are outliers … yet they want everyone to think that they are the only ones which can do relevant and practical work in the Genetic Health arena … It Ain’t So!

    A $99 23andme test with “expert and crowd sourcing analysis” is a viable alternative.

    The $895 FTDNA Exome test is also a viable alternative. http://www.dnadtc.com/products.aspx
    http://www.dnadtc.com/pdf/datasheet_nextera_exome_enrichment.pdf

    I believe ISOGG is dated. They organizationally and intentionally shy away from health issues in personal genetics. And, the typical Family Practitioner is usually in the dark ages on personal health genetics. At least my long time family doctor is. I would pay a fee to someone like Ann Turner to provide recommendations in this area and what to look for in a Family Practitioner.

    With the advent of <$500 Exome Tests (now $895 at FTDNA) upon us we will all need better analysis tools and online communities.

    Gabe Rudy (a true personal genetics health 'pro-sumer') has some of these tools and he knows quite a bit in this area.
    See: http://blog.goldenhelix.com/?p=1621
    http://blog.goldenhelix.com/?p=1282
    http://blog.goldenhelix.com/?p=1640

    • Roberta, thank you fir sharing this personal story in your wonderfully crystal clear way. Personalized medicine is coming. And not just that, but knowing risk and strengths we can fully enjoy the life.

    • Here’s a followup from GABE at GoldenHelix.
      *******************
      Hey George,

      Thanks for the shout-out in that chain. Interesting discussion.

      Our commercial analysis software could easily tackle Exomes generated by the FTDNA $895 Test (should not be substantially different than any other).

      Other than the fact that it might not come with the secondary analysis of alignment and variant calling (something 23andMe provided with their service).

      There are cloud-based pipelines for performing that type of work, with my preference being SevenBridges Genomics:

      https://igor.sbgenomics.com/lab/pipeline/details/1372/

      Thanks,

      Gabe Rudy | VP Product Development
      *********************

  6. Hello friends. Thank you Roberta. I concur with the positive kuddos you all are giving Roberta. Roberta has gone way out of her way for me a number of times spending an enormous amount of time and energy to address my personal and redundant lame geneology issues.

    She is one of those rare gems who does genealogy altruistically.

    Again thank you Roberta

    Sabine

  7. Pingback: Why DNA Test? | DNAeXplained – Genetic Genealogy

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s