Dark Side of 23&Me and Prometheus

[slacker]

Interesting read in the NY Times, for those who have used these services and for those who are thinking about it.

The Online Gene Test Finds a Dangerous Mutation. It May Well Be Wrong.

[HeatherLst]

I’ve had well-meaning friends and family send me this and similar articles. I point out that my parents are both 3/4, my daughter is 4/4. That’s four of us that have all tested in a manner that suggests a high probability of accuracy, at least in my 4/4 results.

Still, because we’ve already been in for genetic counseling for my son with his autism and bone issues, we’re scheduled to go back to have counseling done as a family.

The big thing is, the cost of these tests versus going to get genetic testing done at a medical office. Insurance rarely covers it—and we have premium platinum grade coverage. It’s thousands of dollars to get even simple testing done, whereas these kits offer broad testing for $100 or less. That makes it broadly available to the many instead of limiting it to the few privileged who can afford the more accurate testing.

Also, I know our local research one level University and the local children’s hospital (ranked #2 in the country) both have offered free 23andme testing to research participants. I’ve had friends participate in those studies. So they must see some value in it.


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[chrissyr]

This happened to me with Lynch Syndrome-- My promethease report said that I have it. My father did die of colon cancer in his early 50's, so it seemed like a possibility. I had the genetic testing done and I don't have it. So if anyone has this result for Lynch, I would recommend do not panic and get the testing done!

My take on it, is the apoe4 is more accurate. (I already knew I had this via blood test).

[rws]

Could the NYT not have been more detailed? I mean it's not exactly rocket science what 23aNdme is doing. Mutation screening (at many positions at the same time) is done using microarrays, and if there is an error rate the manufacturer of the microarrays is to blame. Poor investigation, maybe intentionally?

[SNPedia]

The article also neglects to mention that the individual was initially told by Promethease that the data was likely to be a false positive.

[Brian4]

User SNPedia (Mike or Greg I assume) beat me to a point I was about to make. I was going to point out that I actually experienced precisely the Lynch syndrome "scare" for a few seconds until I noticed the caveat that Promethease had inserted.

Agree, Slacker, that the article is worth reading for people who are very new to all this, but it was rather superficial and not well researched.

I get concerned that this kind of journalism increases the probability that access to one's own genetic information will be restricted out of concern for people who are unwilling to read fine print.

Brian

[SNPedia]

Just to be clear - this goes beyond just the 'blanket' caveat about potential false positives.

In this case, we had emailed him directly, informing him that his exact potential-Lynch variant (genotype) was likely to be a false positive according to our statistical data from 23andMe users, which we reviewed for him at his request.

[chrissyr]

I did not receive anything from Promethease or 23 and me saying it was likely a false positive. It was just listed as my #1 result. Both my doctor and MGH cancer center took quite seriously and MGH and promethease were in touch with each other after this to follow up

[chrissyr]

I do not hold anything against 23 and me or promethease -- they do say information is not to be used clinically without validation. Plus this is all very new and complex. Also, if I did happen to have Lynch, knowing so would have potentially saved my life.

[Tincup]

I confirmed my ApoE status with two other labs, my wife also confirmed hers. All the labs agreed. If it is something serious, I feel you must confirm.