Monday, July 12, 2010

DTC Genetic Testing and the 23andMe sample mix-up - My experience

I am revisiting this subject since it is, apparently, still an area of interest for media and consumers.

I am the genetic genealogist in the family, so I am always encouraging family members to test. When the recent $99 sale took place at 23andMe about 15 of my relatives purchased tests, mostly because they were interested in the health portion of the results. In particular, my niece and her husband both purchased tests to determine if they were carriers of any Mendelian disorders, i.e.-cystic fibrosis, hemochromatosis, etc... so they would be aware of any potential issues when the time comes to start a family. Both of their results came in on the evening of June 1st. Since I have spent countless hours educating myself on these tests, it falls to me to help interpret them for my family members. With 23andMe, the health results usually arrive shortly before the ancestry portion. Nothing jumped out as glaringly wrong until the ancestry results started to appear. My niece was listed as having an African maternal line haplogroup. Since she is my sister's daughter, we should have the same mtDNA haplogroup, but did not. My mother and myself both tested as 100% European with U5b1b2 mtDNA. I immediately knew that there was a mistake, but thought that maybe it was just a software glitch that would be resolved overnight once all of the ancestry results were fully populated. When I woke up the next morning, I checked and her Ancestry Painting had come back as 69% African and she did not match me or her grandmother on any DNA. This was obviously a mistake, so I wrote to 23andme (9:22am) and immediately received a response (9:26am) that they would look into it and get back to me. From that point on, I had an ongoing open line of communication with 23andme. I checked the community forum and posted on the ISOGG (International Society of Genetic Genealogist) mailing list and the DNA-Genealogy Mailing List. Working as a community, very quickly we determined that there was a mix-up that affected quite a number of people and I communicated that back to 23andMe as had one of their consultants who is also a member of the genetic genealogy community and ISOGG. 23andMe was very quick to respond, removing the affected batch and sending out an email to all those affected well before the end of the day. Some even received phone calls.
23andMe was quick and efficient in their response. Alex Khomenko should, especially, be commended for jumping in and engaging with the community, putting fears to rest and communicating what they knew as soon as they knew it.
The fact that the genetic genealogy community was so quickly and competently able to determine that there was a mistake and communicate that to the company involved and disseminate that information to others who may have been affected, clearly demonstrates the strength and efficiency of self-regulation. Had each of these 96 results been delivered separately through health care professionals (who have no reason to communicate with each other), instead of  through a large, highly communicative, actively engaged community, the less obvious cases may have escaped notice. How often must it happen that individuals receive incorrect lab results and never know it? A blunder like this in the medical community may never have become public and, certainly, not this quickly. This snafu actually is a good example of successful self-regulation through transparency and should be seen as an argument against outside interference, instead of an excuse to intrude in an already efficient and altogether benign industry.
If this industry is regulated by outside agencies, it will, most likely, take away the anonymity that exists presently in privately receiving your results. Who will want to test, knowing that the results will immediately go into your medical records and potentially be held against you by insurance companies?  Right now, there is no chain of command, meaning that, if I so choose,  I can test under an alias and still have access to my personal information, while no one else ever has to know my results. If that changes, I believe very few people will test, effectively crippling this emerging industry and crushing the valuable research and advancements that are presently being made.
The recent move by the FDA to regulate this industry is misguided at best and sinister at worst, but hardly surprising. We live in a society where every day it seems efforts are made to remove our individual rights by "Big Brother" or big corporations. One would think with the epidemic of rising health care costs, the public would be encouraged to educate themselves and take responsibility for their own health. By attempting to refuse us direct access to our genetic information, the regulators are stomping on our rights as Americans. They are doing it under the guise of "protection," but isn't it really about power and profits? We have entered a new age of personal genomics and are on the cusp of epic progress that can only be halted by government interference and "Big Brother" mentality.

"Genetic Testing Company's Mix Up Stirs Regulation Debate" from Fox News - Quotes from "Your Genetic Genealogist"

San Francisco Chronicle "Gene test mix-up brings scrutiny to industry" - Quotes from "YGG"

1 comment:

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