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.
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!!!