Work

Return of Results in Genomic Research Using Large-Scale or Whole Genome Sequencing: Toward a New Normal

Year: 2023

Type: review

Abstract: Genome sequencing is increasingly used in research and integrated into clinical care. In the research domain, large-scale analyses, including whole genome sequencing with variant interpretation and curation, virtually guarantee identification of variants that are pathogenic or likely pathogenic and actionable. Multiple guidelines recommend that findings associated with actionable conditions be offered to research participants in order to demonstrate respect for autonomy, reciprocity, and participant interests in health and privacy. Some recommendations go further and support offering a wider range of findings, including those that are not immediately actionable. In addition, entities covered by the US Health Insurance Portability and Accountability Act (HIPAA) may be required to provide a participant's raw genomic data on request. Despite these widely endorsed guidelines and requirements, the implementation of return of genomic results and data by researchers remains uneven. This article analyzes the ethical and legal foundations for researcher duties to offer adult participants their interpreted results and raw data as the new normal in genomic research.

Source: Annual Review of Genomics and Human Genetics

DOI: 10.1146/annurev-genom-101122-103209

Authors: Susan M. Wolf, Robert C. Green

Institutions: University of Minnesota, Broad Institute, Harvard University, Ariadne Labs, Mass General Brigham

Language: English

Topic: Ethics in Clinical Research

Subfield: Public Health, Environmental and Occupational Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid