Publications by authors named "Kasia Tolwinski"

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.

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Genomic 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.

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Article Synopsis
  • Increased population screening for genetic variants is being utilized to improve early detection and prevention of diseases, including neuropsychiatric disorders (NPDs), which are complex and genetically influenced but less commonly included in screening programs.
  • The study aims to assess the suitability of incorporating pathogenic copy number variants (CNVs) linked to NPD in population screening by analyzing their prevalence, penetrance, and the personal relevance of such genetic information to individuals.
  • Conducted with a cohort from Geisinger Health System, the research collected and analyzed exome data and electronic health records to determine NPD CNV frequency and examine participants' psychosocial reactions to receiving genetic results.
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In 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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