The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results

摘要: The evidence base supporting genetic and genomic sequence-variant interpretations is continuously evolving. An inherent consequence that a variant’s clinical significance might be reinterpreted over time as new emerges regarding its pathogenicity or lack thereof. This raises ethical, legal, financial issues to whether there responsibility recontact research participants provide updates on reinterpretations of variants after the initial analysis. There has been discussion concerning extent this obligation in context both care. Although recommendations have begun emerge, guidance lacking responsibilities researchers inform results. To respond, an American Society Human Genetics (ASHG) workgroup developed position statement, which was approved by ASHG Board November 2018. included representatives from National Genetic Counselors, Canadian College Medical Genetics, Association Counsellors. final statement includes twelve statements were endorsed supported following organizations: Alliance, European Counsellors, Anthropological Executive Committee Physical Anthropologists, Australasia, Counselors.