Incidential findings in exome sequencing

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As the incidence of clinical whole exome testing increases, it has become very important to discuss the possibility of unrelated, incidential findings with patients and their families. Dorscher et al(AJHG, 2013 (93) 631-640) just published the rate of incidential, actionable findings in 114 genes (which includes the ACMG recommended panel of 56 actionable genes) in 1000 sequenced genomes, and reported the incidence to be 3.4% in individuals of European descent and 1.2% in individuals of African descent. While this study leads to as many questions as answers (i.e why are the rates of findings different between ancestries, what about individuals from other ancestries, etc.), it is a good starting point for family counseling.

Hilary Vernon MD PhD


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