A5033350460- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Race, Genetics, and Society
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Autism Spectrum Disorder Research
- Ethics in medical practice
- Healthcare Decision-Making and Restraints
- Biomedical Text Mining and Ontologies
- Ethics in Clinical Research
- Genetic Associations and Epidemiology
- Palliative Care and End-of-Life Issues
- Nutrition, Genetics, and Disease
McGill University
2019-2022
Autism & Developmental Medicine Institute
2020
Cornell University
2013
Population screening for medically relevant genomic variants that cause diseases such as hereditary cancer and cardiovascular disorders is increasing to facilitate early disease detection or prevention. Neuropsychiatric (NPDs) are common, complex with clear genetic causes; yet, access diagnosis limited. We explored whether inclusion of NPD in population-based programs warranted by assessing 3 key factors: prevalence, penetrance, personal utility.To evaluate the suitability including...
Epigenetics is a field on the rise that seeks to explain phenotypic variance despite stable and enduring DNA sequence. The hopes for are high, claims about its revolutionary potential abound. Some scholars in humanities social sciences see as potentially replacing reductionism genetic determinism, bringing life environment more firmly into view. This paper attends discourses of epigenetics researchers themselves. Through qualitative interviewing analysis, I classify these scientists three...
In this article, I examine how a subfield of researchers studying the impact poverty and adversity on developing brain, cognitive abilities mental health respond to criticism that their research is racist eugenicist, implies affected children are broken biological level. My interviewees use number strategies these resurfacing criticisms. They maintain controversy rests upon fundamental misunderstanding work. addition, they what term ‘plasticity talk’, form anti-determinist discourse, put...
Understanding unselected individuals' experiences receiving genetic results through population genomic screening is critical to advancing clinical utility and improving health. We conducted qualitative interviews with individuals who received clinically actionable via the MyCode© Genomic Screening Counseling program. purposively sampled cohorts seek diversity in result-related disease risk (e.g., cancer or cardiovascular) personal family history of related diseases. Transcripts were analyzed...
Genomic variants that cause neurodevelopmental/psychiatric disorders (NPD) are relatively prevalent and highly penetrant. This study aimed to understand adults' immediate responses receiving NPD-related results inform inclusion in population-based genomic screening programs. Nine recurrent, pathogenic copy number (CNVs) were identified from research exome data, clinically confirmed, disclosed adult participants of the Geisinger MyCode Community Health Initiative DiscovEHR cohort by...