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Archiver > GENEALOGY-DNA > 2008-04 > 1208467203
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Subject: Re: [DNA] Book: DNA, Promise and Peril
Date: Thu, 17 Apr 2008 17:20:03 -0400
I wonder how often genetics counselors really know the exact mechanisms of the diseases they are seeing. It seems like it would be to their advantage to employ the research of genetic genealogists to help with the investigations. This would be particularly true in the bigger university medical centers.
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An example would be the diseases that involve imprinting. See:
http://www.genetics.com.au/pdf/factsheets/fs15.pdf
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In my own family, there is a rare blindness that may have remained dormant for many generations and then suddenly showed up in first cousins with three siblings in one family. This condition could have been passed down through a long maternal line then passed through brothers and suddenly it is common in the next generation. If I had not known that it occurred many generations back and followed the pedigree myself, this idea about imprinting would not have even been a consideration. But I know many lines on my father side have “daughtered out” because I am having trouble finding any relatives of certain surnames to be tested. It is saving me a lot of money, granted, but it is no fun. Now I am wondering about all the genes that have been left dormant and may show up in the future. Are genetics counselors really keeping up with the research and doing the right studies? I doubt it. They certainly won't carry the pedigrees out to the level that is needed in the future. And as many of you have already stated, the accuracy is suspect as well.
Kathy J.
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