When families bridge the research-clinical divide: An exploration of values regarding cascade screening in genomic research
Year: 2025
Type: article
Abstract: Purpose: Genetic results are important for both patients and their biological relatives. However, cascade screening (CS) uptake is low, especially when testing occurs through research programs and not clinical care. Ethical guidance is needed for CS implementation when individuals receive clinical genetic results through research. Methods: We conducted focus groups with 3 groups of individuals in the Clinical Sequencing Evidence-Generating Research Consortium: clinicians, patient representatives, and scholars of the ethical, legal, and social implications of genomics. We used inductive thematic and comparative analyses to analyze data within and across the groups. Results: = 27) agreed that researchers have an obligation to provide resources to participants about CS and generally felt that answering genetics-related questions from participants' relatives was appropriate. However, there was disagreement regarding whether studies are obliged to fund genetic testing for relatives. Participants' rationales were rooted in attitudes about the clinical-research interface, influences on research enrollment, inclusion of underrepresented communities, and appropriate stewardship of funds. Conclusion: Ethical tensions and logistical hurdles arise when considering CS that bridges research and clinical settings. Additional study of the appropriateness and feasibility of testing for relatives, especially in genomics in which distinctions between research and clinical care are often blurred, is needed.
Source: Genetics in Medicine Open
Authors: Katherine E. Bonini, Lauren R. Desrosiers-Battu, Ann Katherine M. Foreman, Nuriye N. Sahin-Hodoglugil, Mary A. Majumder, Candice R. Finnila, Stephanie A. Kraft, Laura M. Amendola, Eimear E. Kenny, Stephanie M. Fullerton, Sara L. Ackerman, Benjamin S. Wilfond, Amy L. McGuire, Hadley Stevens Smith
Institutions: Icahn School of Medicine at Mount Sinai, Baylor College of Medicine, Texas Children's Hospital, University of North Carolina at Chapel Hill, University of California, San Francisco, HudsonAlpha Institute for Biotechnology, Geisinger College of Health Sciences, University of Washington, Seattle Children's Research Institute, Treuman Katz Center for Pediatric Bioethics and Palliative Care, Harvard University, Harvard Pilgrim Health Care
Language: English
Topic: Ethics in Clinical Research
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,200
Awards: G1581081233, G2093611425, G2261538890, Genomic sequencing to aid diagnosis in pediatric and prenatal practice: Examining clinical utility, ethical implications, payer coverage, and data integration in a diverse population., South-seq: DNA sequencing for newborn nurseries in the South, Exome sequencing in Diverse Populations in Colorado & Oregon, G5170396738, G561653141, Incorporating genomics into the clinical care of diverse NYC children
OpenAlex ID: W4411604910