DTC Genetic Testing

nerd June 04, 2010 February 22, 2011

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This subject has come up a lot recently in my social and academic circles and I was wondering what your perspective would be as a group of people who have knowledge of genetics and genetic testing in particular. The issue is direct-to-consumer (DTC) genetic testing. Several companies offer a broad variety of genetic testing services where you send them your own DNA sample and they do a bunch of tests on it and tell you some stuff about yourself that you may or may not already know, that may or may not be useful: (I've listed a couple major ones so you can check them out, I do not mean to slight the ones I have omitted) [url=https://www.23andme.com/]23andMe[/url] [url=http://www.biomarkerinc.com/]BioMarker Pharmaceuticals[/url] [url=http://www.decode.com/]deCODE Genetics[/url] [url=http://www.navigenics.com/]Navigenics[/url] [url=http://www.pathway.com/]Pathway Genomics[/url] Take [url=https://www.23andme.com/]23andMe[/url] as an example. For a one-time fee of $500, you drool in a tube and send it off, they run it on the MotherOfAll SNP chips and test for something like 580,000 single nucleotide polymorphisms. This chip is designed to test a bunch of things where we're pretty confident about the link between the SNP and the outcome (for example, major cystic fibrosis mutations, certain SNPs in BRCA1 and BRCA 2, sickle-cell anemia, etc) as well as SNPs that might only slightly change your risk for developing a certain condition or trait (you can see their whole list [url=https://www.23andme.com/health/all/]here[/url]). They can also trace your ancestry by seeing what major populations your DNA seems to be derived from, and test where your tail-female or tail-male (if you happen to have Y-chromosome which I don't) lines come from. If you opt in, they can also compare you to other 23andMe customers and give you a heads up if they find someone who's statistically likely to be your 4th cousin however-many times removed (you don't know anything about them except the fact that they exist and maybe their gender; you then have the option of trying to initiate contact). They also tests for a bunch of SNPs that researchers think might be important (that's why the number is ~580,000), and as scientific reports are published, they decide whether those reports are BS or credible and send you updates about your carrier status for free as new information comes to light. Anyways. There are some ethical issues associated with this. There are privacy/discrimination issues, but in fact doing a test DTC is probably more private than going through your medical care provider, as you're the only one who knows the results, and at least in the US the Genetic Information Nondiscrimination Act of 2008 is supposed to make discrimination on the basis of genetic information illegal. Another ethical concern has to do with information which ends up being revealed that you might not want to have known. For example, you could find out that your father is not your biological father. This could have a pretty huge impact on your life. Another issue is one of regulation. Clinical tests are only supposed to be run under the suggestion and guidance of a physician. The state of New York, for example, has ruled that genetic testing has to be done with a permit and must be ordered by a licensed physician, so you effectively can't do DTC genetic testing in NY. In early May, Pathway Genomics was going to start marketing their kit (read: box containing empty tube the consumer drools in then sends off) on the shelf at Walgreens. The FDA sent them a cease-and-desist letter effectively saying "we think this kit is a medical device, the FDA is supposed to regulate medical devices, we can't find any records of us giving you permission to market this medical device, please stop selling it or explain to us why you don't think you need to be regulated." Walgreens decided not to put the kit on its shelves. The other main ethical concern, and the one I would like to focus on, has to do with whether the customer can understand what the tests mean. Most of these tests only tell you that you have a slightly higher or lower than average chance of developing some condition (maybe, if you're caucasian and the stars align), so the worry is that people will misinterpret the results of the tests and make inappropriate decisions as a result. The major companies bend over backwards to try to make sure the consumer is educated about this and they make all sorts of pretty graphics to illustrate what the average risk is versus your estimated risk, etc. I've gotten into arguments with people over this last point. Their point of view was that government has an obligation to protect consumers against the misinterpretation of these test results, and the way to do this was to outlaw DTC genetic testing and instead mandate that genetic testing only be done if a physician deems it necessary and under the guidance of a genetic counselor, ie another human being that can sit down and explain stuff and make sure the consumer understands the meaning of the results. This rubs me the wrong way. Personally, I don't think it's right to deny people the ability to discover their own genetic information. I understand that the government has an obligation to protect people from harming themselves when this affects society, but it just seems really wrong to me that a person would be able to order a whole slew of genetic tests for their dog/horse/pet hamster, but not be considered competent enough by the government to order genetic testing on themselves. What do you guys think of this? Have any of you done DTC genetic testing? Do you think it should be allowed? Regulated? Discuss.

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