DTC Genetic Testing

[Stef]

Hi All,

Today NORD's genetic counselor sent me a link to an article that appeared in the November 13th online journal, The Scientist --
http://www.the-scientist.com/?articles.view/articleNo/33244/title/Opinion--Talking-Genomics/.

The subject of DTC ("Direct to Consumer") genetic testing comes up frequently at NORD, via emails and phone calls we receive from desperate patients who don't have a diagnosis. Our genetic counselor and I attended the first "Personalized Genomics Conference" together ~ 3 years ago in Washington, DC, and we both walked out of there with the same conclusion -- "Buyer Beware."

She and I have discussed the subject of DTC genetic testing several times at NORD since this field emerged ~ 3-4 years ago. (When the subject is genetics -- I completely defer to her -- she has ROCK SOLID knowledge and understanding of the intricacies of genetics and -- in particular -- genetic testing and its ramifications -- which can be huge.)   

With companies like 23andMe and Navigenics (who both did presentations at that conference) one sends a saliva sample via test tube to the company.  In return, for a fee of  $300 (or more) one can purchase a report of his/her individual genome sequence. The report then advises of your risks for various diseases -- rare and common. The assessment is based on data from studies of various populations (some of which might not be your own population, and, therefore, not relevant to you).

The information involved in these results runs the full gamut. For example, your lineage -- where your ancestors came from -- can be determined (quite accurately). You are advised, for example, if you're statistically prone to high achievement, depression, athleticism, Alzheimer's disease, musical talent, low back pain, and/or increased amounts of ear wax  (no genes has been discovered for any these yet). But the information that one receives in the report is a statistical assessment, based on various populations.

Our genetic counselor cautions that by no means should these tests be considered diagnostic by the consumer. The only way for any of this to have relevance is to then take the report to a board-certified geneticist for consultation and input (which might lead to further, more specific testing).

It's an interesting article, and I've shared it with a few other forums that I'm involved with through NORD. There is such curiosity for many of us -- particularly for those who have no diagnosis and are truly desperate.

Knowledge is power -- but inaccurate knowledge can lead to irrelevant information. I believe that 23andMe advises on their site that the test results are not meant to be diagnostic -- that physician input is necessary to form any serious conclusions.  It is a good cautionary statement for them to put out there, and shows that they understand the ramifications that some test results may have.

Personally, I would like to know more about my ancestry.  Other than that, I already know that I have the "gregarious" gene (one hasn't been discovered yet -- but I know that I've got it -- it might also be referred to as "talkative" gene), and that I've also got the "afraid to drive in snow" gene. But I do not want to know if, statistically, I'm at risk  for Alzheimer's disease, type 2 diabetes, multiple sclerosis, etc.  It would not enhance my life one iota -- especially if it's merely a risk-driven report based on populations that are not mine.

I wanted to share this information with you, as I have with other groups. I think it's important to understand DTC genetic testing -- or any medical testing that one does not then discuss with his/her physician if something worrisome appears in the report.  There is no harm in it, other than the potential for feeling falsely elated, or totally doomed and/or frightened to death by a report that may have no relevance to you.

Stef

[Daveman]

Thank you Stef.

Your people over there at NORD tackle things far stranger than POIS, every day... I've heard the horror stories. And I know that almost ALL of the rare disorder sufferers have the same desires as we, perhaps even stronger. When one has an affliction which nobody understands, we can't help but feel we are on our own, and that we must take the bull by the horns and use any mechanism that is available.

But at times it can be like a neighborhood that is ready to lynch an innocent bystander for a horrendous crime. Sometimes doing anything feels like justice. But maybe, just maybe you lynch the wrong person, and the real perpetrator is out there waiting to act again.

Until we really know what we are doing, we could be lynching the wrong culprit.

I think you can attest, in all your years dealing directly with rare disorders of all types, those who have succeeded, have had balls, and have gone OUT OF their way to
beat the system, but ALWAYS from within the system. The balls to call the best, and make yourself heard, to insist in your priority. But always through the best, and always through the medical community.

Stef you know how I feel about the medical community, much like many of you here, it is difficult to get anything done right. This is common and normal throughout most rare disorders. We are not alone in this. And we MUST lead them. We must show them the way. It's not easy and can only be done through "the best", whether those are local young and  vigorous newbies, or seasoned experienced veterans. The work must be done. So 23andME and the like,  is only a small part of the story, and an expensive one. If it provides a false positive it does no-one any good. But in the right hands and managed with intent concern for truth and success, it could be an important piece of a greater and very complex puzzle.

Your people at NORD really know rare disorders, not only at a medical level, but at a human and truly interactive level. I understand their apprehension. They know we are willing to risk our lives for a solution, and it must drive them crazy, every day.

[Nightingale]

Thank you Stef,

This is very informative and you give some wise advice 

[G-man]

I agree with Stef. However we could do the genetic testing and just give the results to the pois researchers, never to see it ourselves.
A very intelligent doctor recently said to me this could be a IgG food sensitivity and that someone I'm related to likely has the same problem, but with different manifestations. **edit food sensitivity not food allergy**