Remember last year when our brothers in the US offered a discount to Gizmodo readers for genetic testing service 23andMe? Yeah well I totally did it, and I kinda wish I hadn’t.
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.
Me
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.
The Law
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.
The Report
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.
Ancestry
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.
The Result
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.
@Susan, the difference between the CF panel a genetic counselor would send you to and the 23andMe test is that is that the former is usually a restriction assay, testing for a small number of mutations with high specificity, while the latter is an array testing hundreds of thousands of mutations simultaneously. The chances of a false positive in the latter are much higher, which is why a positive result for something as serious as CF should be validated with another method. I would personally not trust any result as necessarily true rather
@Elly, I would also question the results as you said you left your spit in the tube for a month before sending it in. DNA is very durable and can remain intact hundreds of thousands of years (example: Neanderthal Genome Project), but for a run-of-the-mill procedure like a SNP array, I'm not sure they use the highest standards in quality assurance. In short, I wouldn't treat the results as diagnostic, especially in light of their disclaimer and the fact that they're not FDA regulated.
For those who suggested testing 23andMe by sending dog saliva - come on, give them a shred of credit.
The Poster Elly, writes a good article, however forgets the one requirement all knowledge demands, "with great knowledge requires great responsibility" or the same concept from Jesus words: "To whom much has been given, much will be expected" (from the parables)
This is why alot of peoples friends and family warn us against knowing what is not generally acepted, its not to save you in all but the most risky cases, its so that you do not change from the norm or expect others to.
All genetic information requires the recieving party to have a good working knowledge of the subject matter and the directley related area's of knowledge.
My advice to Elly is, learn about genetics, epigentics and biochemistry, then use that knowledge to leverage your life. i.e being lactose intolerante means you avoid milk, this is not a bad thing, its actually a good thing considering you probably are not drinking raw milk anway so the milk you do drink is crap from a nutrient perspective anyway.
There are plenty of alternatives, even lactose free milk, goat milk and the various nut and grain milks.
As for Heart Attacks, genetic propensity, still requires the right environmental circumstances to activate and cause a heart attack, its really like a map with many paths, you just need to learn to navigate them or reduce the factors that trigger higher propensity (weak paths) that cause diseases.
The warning, if you have the information, but are lacking the ability/responsibility to use it, then you have skipped a step (learning) and the information may be dangerous especially if you tend toward the hypocondriac side of life which is to think you have somthing based on the tiniest piece of information or worse, in the future somthing happens and then due to the information you self misdiagnose or lead your doctors down the wrong path, which is easy if your doctor is also lacking the required Information/Responsibility, the main cause of most mis diagnosis is not lack intellegence, but the understanding of the process and how to apply the inteligence.
Are you serious? Are all you people that neurotic that you can't handle some information?
I thought why 23andMe would be a waste of money is because it would be scam or something, not because you can't stomach some scientific data. It's things like this -- preferring to live in ignorance -- that make me disappointed in humanity.
I have to partially agree that the service has limited benefits at present, especially for someone that is in a demographic with limited information as of yet. But on the other hand, you can look at this differently. By answering questions, especially as a poorly represented demographic, you are also aiding in research and contributing data where it is most needed. This service is both give and take. In addition it is definitely a downer to hear you have this and that genetic variation that could cause problems down the road when there is little one can do that lead the same healthy lifestyle thats good for you anyway. But again, you should be looking forward, especially as a young twenty something that in the future we won't just be testing for genetic misfortune, we'll have the ability to undergo safe gene therapy or take medications that can edit our genetic code. So in the future when 23andMe says you have gene ... that increases your risk for this disease or that, it will hopefully say, take pill or shot ... and it will correct this gene so that your risk is greatly reduced. By participating in 23andMe now, you're really just a beta tester, but for some the fulfillment of contributing to something that can help themselves and others in the future should help offset the disappointing limitations of the service today.
wow....
"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; "
And what did I learn from this article? That some people are over worrying sods that doesn't understand anything about lab analysis and what statistics is all about who has time to complain about something that they don't understand.
My grandmother died of Alzheimers. So am I going to write an article complaining about a news article saying that, "people whoes ancesters have Alzheimers are more likely to get Alzheimers than other people."? Am I going worry DRAMATICALLY about the whole deal and COMPLAIN to everyone that reading the article is A WASTE OF TIME?
Results are Results. It never said, "Oh you have to WORRY now and take all these suppliments and avoid nearly everything". But YOU chose to. It was YOUR decision to take all these badly and FEEL bad about the results.
If your article had a title of, "Doing 23andMe Genetics test was a waste of time FOR ME" I'd be more inclined to give you a better review. But you've decided to go and put down a whole product because YOU felt bad about it afterwards when it was never the products fault or intention to give you those feelings. It's like saying a car is horrible because you've had a tiny accident in it while it benefits a million other people. Yeah sure there are thousands of car accidents per day, but does that mean it's a completely useless tool? No.
If you're a moron, that's fine. But don't shove it down anyones throat saying, "My experience is correct. I am right and that product is wrong".
I agree, her article is immature, obnoxious, lacks reason and just seems like a little entitled brat that has a mega phone. I don’t need her dna to tell you she should probably be on Xanax and that she would be no fun at a party. Oh, but she already told us that, she get sick when she has one drink, blah, blah, blah.
You should waste you time and get genotyped. It's a total worthwhile waste of time. Much less productive than writing down ten diseases you don't want and drawing from a hat to see which one you'll get. I also recommend going to a psychic for lineage information and the like. This author is totally right - and although not one suggestion was made for readers to get this information in another way, it's totally cool!
I just had a fight with them over their failure to deliver the results within the 6 weeks as agreed. They knew that I was an attorney, so they did reply after 6 weeks, my sample was no good, so they were sending me a new sample kit to start all over again. This is apparently how they treat those that complain. I told them I wanted my money back, and they refunded it.
Lighten up please, not the end of the world :)
I agree, not a strongly written article sorry Elly. More research was required before and after the test results.
We must always remember that genetic disposition is only one factor amongst many that determine the health of an individual. I would argue however that being aware of a health risk and then being able to make lifestyle choices to lower that risk is an advantage I would jump at. Genetic testing seems to me the future of diagnostic medicine and a useful pathway to treating the cause of disease not just symptoms. It is a relatively young science though and one must be patient with progress.
I would encourage genetic typing if you are a intelligent person who will make use of the information to gain better health and that is the purpose of this type of testing on disease risk.
Personally I had a genetic test which revealed a malabsorption disposition which is easily supplemented with an active form of folate. This enzymes deficiency I have inherited caused me many health problem and may have lead to an early death or debilitating disease. Without this testing I would of been ignorant to the cause of my issues.
I think that ignorance is not bliss when it comes to your health in fact its actually dangerous. it is also quite normal to freak out i think when you first get such test results. An intelligent person will know however that stress is the WORST thing for your health and chill out. Then get to work and change the things you can and accept what you can't.
23 and me is a test I am considering but not before I am sure that I will know how to determine the results and what the limitations of the stats are.
I did the 23andMe testing years ago just out of curiosity about how their process works (I work in the genetics field). Just an FYI- on the disease risk pages, you mentioned it was only for European Ancestry for someone 40-79, but most of the pages have pull down menus so you can change to the correct ethnicity (which can be limited by the data they have) and age range (though I'm not sure it goes lower than 30). The risk you are given is a lifetime risk, and the point of the age ranges is to see what your risk is at a particular decade. So under 40-79, you can choose a decade to see what your risk would be at that point. It's not disregarding your age, it's just saying that the risks increase after the age of 40. I agree that this testing may not be for everyone and people should be aware of what they are getting into before ordering it.
"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"
That is not what the results say. It shows the percentage chance of developing a heart attack between the ages of 40 and 79. If you're going to write a critical article about genetic testing, at least get it right. This is the start of a revolution in medicine - 10 years ago one of these tests would have cost millions of dollars and you're busy complaining about results you don't understand. It's like people who complain that youtube is taking too long to download to their smartphone - first world problems.
Sorry Ellie, but you are over dramatising here. Have you ever heard about epigenetics? For $99, this test is just fun to read and good to know certain things, which you would have never known otherwise. Lighten up.
So your argument is that since you don't feel very good after the test, it's not worth it? Really? Who gives a shit? Maybe you'd feel the same way about chemotherapy but that doesn't mean it is not helpful.