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Old 03-01-2012, 06:36 PM
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Conductor71 Conductor71 is offline
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Join Date: Jul 2009
Location: Michigan
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Conductor71 Conductor71 is offline
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Join Date: Jul 2009
Location: Michigan
Posts: 1,474
10 yr Member
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Quote:
Originally Posted by olsen View Post
One personal anecdote regarding credibility of 23andme testing: the geneticist we consulted insisted that my husband be retested for a few specific mutations because he "didn't believe" the 23andme data. The results were exactly the same...
On the other hand, Brin has enough money to hire the best and the brightest, which is what I suspect he has done.
Nice outcome. I think we are going to see more and more resistance from more established practitioners; I believe, it is a fear of losing their authority and not really even knowing much about 23andme in the first place. I was appalled to find out that young women were not now routinely screened for genetic forms of cancer. In the 230,000+ women diagnosed each year, nearly 15% have genetic cause. Insurers won't cover it or the oncology powers that be do not push for it because it is a "small" percentage! Well that is over 26,000 lives that are being toyed with. I told my OB/GYN about 23andme; she was going to start recommending the service to her patients.

I read a review article on genetics and PD that concluded all young -onset PD patients should be genetically tested. The recessive mutations potentially cause problems for our grandchildren who then may be afflicted later, so it really is important to know if you have kids. What really gets me is that I cannot see many doctors getting our diagnosis with so little actual testing done. Really, I can't figure out how we get that idiopathic label in the first place.

As for the scan, I think I put more faith in it than I should have. One of the reasons we do not have more definitive diagnostics or scientifically reliable measures of progression is because disease severity does not correlate to number of Lewy Bodies or alpha-synuclein amount or even amount of medication. People with Parkin 1 have no Lewy Bodies because they have no alpha -Synuclein aggregation at all! Until they start looking at the larger picture, we are essentially on our own or at their mercy.

Laura
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