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Old 07-21-2015, 09:53 AM   #1
Junior Member
Location: Asia

Join Date: Sep 2012
Posts: 7
Default Incidental findings according to ACMG recommendation

Dear All,

I have a question about how to report incidental findings in exome samples for the clinical diagnostic purposes.
I have read the ACMG recommendations for reporting incidental findings in patients and tried to filter out the pathogenic variants in the 56 genes suggested to be checked by ACMG.
When I filter out the variants using common polymorphisms in dbSNP142, the remaining pathogenic variants are mostly not so much. However, without this filtration there would be around 20 remaining variants on average that should be checked manually to investigate their probable pathogenicity.
Most of these variants are the common polymorphisms (reported through GWAS studies) which are associated with more common disorders and not the rare variants of monogenic disorders.
Since there is no accurate recommendation about the type of variants that should be reported to patients, I was wondering whether we should check these associated polymorphisms manually and investigate their effects in these disorders and then report them to patients, or we should just report the rare pathogenic variants (DM variants in HGMD) as incidental findings?

I am looking forward to hearing from you.
zgene is offline   Reply With Quote
Old 03-14-2016, 06:03 PM   #2
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Location: California, US

Join Date: Mar 2016
Posts: 1

ACMG guidelines recommends to report "Mendelian type" variants not "GWAS type" variants. Pls read the guideline again
uhodoglugil is offline   Reply With Quote

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