Access to your genetic data used to cost thousands of dollars, but with the rise of online genetic testing services, like 23andMe and Navigenics, both of which are available to Australians, it’s become more accessible to people like you and me.
23andMe is financially backed by Google co-founder Sergey Brin. It’s at the forefront of technology that makes genetic data accessible for the average person by bringing the cost down from what would be thousands of dollars to just a couple of hundred. I paid just $US99 with an offer for Gizmodo readers, plus a mandatory $US5 per month for a 12-month personal genome service subscription.
I tweeted about my plans and found that people were equally divided over whether I should or shouldn’t have signed up for it. At no point did I expect this to become a moral debate. It was my decision, and mine alone, but I found myself trying to justify it to people I didn’t really know, as well as to family and friends.
Some said that there are certain things in life that are best left unknown. Others said that knowing where my risk factors are could improve my quality of life. My boyfriend was one of those people who thought it was a bad idea. “F**k that!” he said. “Do you want to live the rest of your life worrying about something you may or may not get?”
He had a point, and if anyone’s opinion mattered, it was his. I spat in the tube and put it aside for more than a month, deliberating over whether I should or shouldn’t ship it off to California for analysis. In the end, I decided that once my results were in, I could choose to not view them if I didn’t want to. After all, I had already paid for the service.
I’m a twentysomething woman with mostly Asian ancestry. My paternal grandfather was of mixed heritage, but other than that I’m pretty much all Korean. I sometimes wish I was a couple of inches taller, or that my boobs were bigger, or that I was better at maths, but those complaints are trivial when I know that I have my health and expect it to stay that way for the foreseeable future. Or so I thought.
23andMe kind of ruined that illusion for me. Apparently I have a 5.1 per cent risk of getting colorectal cancer, and my body doesn’t do a very efficient job of metabolising caffeine. I don’t really drink coffee, but I do like my Red Bulls from time to time! Yes, 5 per cent is a small figure to worry about, but you can’t help but be alarmed when a hard number is put on something you’d think should not be so easily predictable.
According to the Private Health Insurance Act (2007), health funds cannot refuse to insure you based on age, sex, health risk profile or genetic profiling. My own health insurer, nib, promises on its website that a genetic testing service will not impact my health premiums.
However, life insurance is a different story. According to the Insurance Contracts Act (1984):
Subject to this Act, an insured has a duty to disclose to the insurer, before the relevant contract of insurance is entered into, every matter that is known to the insured, being a matter that:
(a) the insured knows to be a matter relevant to the decision of the insurer whether to accept the risk and, if so, on what terms; or
(b) a reasonable person in the circumstances could be expected to know to be a matter so relevant.
As part of my investigation, I spoke with Keith Henry, a broker specialising in risk insurance. He confirmed that applicants are required to disclose information that could impact on insurability, but he reassured me that insurance companies generally do not request that genetic testing services be done.
“No application forms and no underwriting that I’ve been involved in over the last 32 years have requested a genetic test,” Henry said.
I’m pissed off that 23andMe didn’t make this information clearer prior to the signing-up process. All they say on their website is that the Genetic Information Nondiscrimination Act (GINA) “protects Americans from discrimination (in health insurance and employment decisions) on the basis of genetic information”. This is obviously unhelpful to me as an Australian.
If fact, they say nothing about duty of disclosure in matters involving life insurance other than this sneaky little statement: “GINA does not cover life or disability insurance providers”, which, again, is irrelevant to anyone who isn’t American.
It’s dodgy behaviour, at least in my eyes. They know that if we know the legal implications of undergoing genetic testing, fewer people would sign up, which would obviously affect 23andMe’s commercial interests.
That’s not all that 23andMe failed to mention. It’s not until after you pay the money, send off your sample and get the results back that you realise that most of the data is irrelevant to you.
The first time you log in to see your results, a dialog box pops up with the option to not see your health results. Of course, by now, I was dying to find out what the results were. I clicked through to my “disease risk” profile and saw this:
I almost had a heart attack right there. This made no sense. I was 1.21 times more likely than the average person to suffer a heart attack, despite having no family history of anything remotely related to heart disease.
But then I clicked on the link that took me to a detailed report and saw this:
The data is based on the assumption that I am of European ancestry, and between the ages of 40 and 79. I rolled my eyes. There was no option for other ethnicities, because there are “comparatively few studies looking for genetic associations in populations that form a minority in the countries where much of the latest research takes place”.
My eyes glazed over as I scanned through the rest of the detailed “heart attack” report, including ways to reduce risk, a chart showing “marker effects” that I still don’t understand, and a highly technical explanation of chromosomal region 9p21 that is, again, only applicable to people of European descent.
Next on the disease risk report was one of the few on the list that actually was somewhat relevant to me. Apparently, I have an elevated risk of colorectal cancer, assuming that I’m Asian and between the ages of 25 and 79. I was 23 at the time of taking the test, and that’s about as relevant as the whole report gets to my ethnic/age group.
Again, despite having no family history of colorectal cancer and being outside the assumed age range, this struck a chord with me. Heritability is estimated to be at 35 per cent, which means environmental factors play a bigger part in my odds of getting it or not. The report recommends that I get regular screening after the age of 50, exercise, don’t get fat, don’t drink too much alcohol and limit my intake of red meat. Doesn’t sound too bad — there’s not much I have to change already, although I could probably do with more exercise.
Most of the health results are based on studies that compare different “markers”. For example, my risk of keloid — the formation of dense, painful and persistent raised scars — varies depending on the genetic variation. According to the quoted study involving people of Japanese ancestry, one gene marker is at “moderately higher odds of keloid if skin injury occurs”, while another is at “typical odds”.
It appears that I also have a gene that puts me at “slightly higher odds” of schizophrenia, according to a study of 4200 Japanese people. This worries me a little bit, as I currently take medication for anxiety and have a family history of depression.
The report also revealed that I have a reduced ability to break down a toxic byproduct of alcohol and cigarette smoke called acetaldehyde, which may or may not explain why I can only have a few cigarettes or a few drinks before I start feeling ill. Apparently, I also have a gene that puts me at “substantially higher odds” of heroin addiction, which may or may not explain why I’ve always had a gut feeling about staying the hell away from it in a way that I don’t feel about other illicit drugs.
If you can garner any good news out of 23andMe’s genetic testing service, it’s the “decreased risk” section of the results. Again, a lot of the results are irrelevant to me as a non-European person under the age of 30. Interestingly, I have a gene that puts me at lower odds of stomach cancer. Considering that my anxiety usually manifests itself in stomach pains, this can only be a good thing.
This section of the report says that I’m less likely to experience irregular heartbeats, fertility problems, lumbar disc disease, and a condition called tardive dyskinesia that causes tics in people who take or have taken antidepressants. Also of note, my genetic data puts me “typical odds” of asthma based on a study comparing 487 Koreans with asthma to 286 people without asthma. I found this interesting as a sufferer of childhood asthma, but other than what I mentioned above, that’s all that the health report had to offer.
The “carrier status” part of the report revealed that I didn’t have any genetic predispositions to a list of 24 diseases, and the “drug response” section showed nothing alarming, other than reduced odds of responding to Hepatitis C treatment and that I’m likely to be a slow metaboliser of caffeine. The report also says that I can taste certain bitter flavours (you mean some people can’t?), have dry earwax, am likely to be lactose intolerant, share a genotype with “many world class sprinters”, reduced sensitivity to the smell of BO, decreased sensitivity to pain and less efficient at avoiding errors. I guess you win some, you lose some.
23andMe also failed to adequately inform me that there’s no way to trace my paternal line because it’s “determined by the genetics of the Y-chromosome”. Maybe this is common sense to some, but it isn’t to me. If I really want to know my paternal ancestry, I would have to get my dad, brother or paternal uncle to do the test and cough up more money.
My maternal haplogroup was, however, revealed in detailed fashion. 23andMe delves into the history of my maternal haplogroup, and even provides a chart full of numbers and letters that don’t explain themselves to ordinary people like myself. I’m not able to work out what any of it means, except that I might have distant relatives in South America and Siberia.
So what did I learn? That I can’t drink more than one glass of milk a day without my stomach exploding; that I really should never touch heroin; that if I think my boyfriend smells, he needs to be put in the shower right away; and that if I get fired for being inefficient at avoiding errors I could maybe seek career advice from Usain Bolt.
The report, despite being overwhelmingly positive, did nothing to make me feel better. If anything, it’s made me feel worse. If I do happen to contract Hepatitis C one day, I’ll probably freak out to the point of being inconsolable. Every time I have a drink now, I’ll worry about my body’s “reduced ability” to break it down. That’s no way to have a beer.
My suggestion is that unless you have a specific reason behind your motivation, don’t bother with genetic testing services, especially if you’re not of European ancestry and you’re under the age of 30. I can see how it may be useful as a preemptive measure for people with a family history of a debilitating disease, or for people who are seeking out long-lost relatives. But for the rest of us, the money is probably better spent towards a gym membership, more fruits and vegetables and health/life insurance. And not having to worry for the rest of your life about something that may or may not happen to you? That’s priceless.