Understanding unselected individuals' experiences receiving genetic results through population genomic screening is critical to advancing clinical utility and improving population health. We conducted qualitative interviews with individuals who received clinically actionable genetic results via the MyCode© Genomic Screening and Counseling program. We purposively sampled cohorts to seek diversity in result-related disease risk (e.
View Article and Find Full Text PDFGenomic variants that cause neurodevelopmental/psychiatric disorders (NPD) are relatively prevalent and highly penetrant. This study aimed to understand adults' immediate responses to receiving NPD-related results to inform inclusion in population-based genomic screening programs. Nine recurrent, pathogenic copy number variants (CNVs) were identified from research exome data, clinically confirmed, and disclosed to adult participants of the Geisinger MyCode Community Health Initiative DiscovEHR cohort by experienced genetic counselors.
View Article and Find Full Text PDFIn this article, I examine how a subfield of researchers studying the impact of poverty and adversity on the developing brain, cognitive abilities and mental health respond to criticism that their research is racist and eugenicist, and implies that affected children are broken on a biological level. My interviewees use a number of strategies to respond to these resurfacing criticisms. They maintain that the controversy rests upon a fundamental misunderstanding of their work.
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