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Last Posted: Jun 25, 2024
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Return of Results in Genomic Research Using Large-Scale or Whole Genome Sequencing: Toward a New Normal

From the 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."

Organizational Factors in Clinical Data Sharing for Artificial Intelligence in Health Care.
Alaa Youssef et al. JAMA Netw Open 2023 12 (12) e2348422

From the abstract: "Are organizational factors associated with the motivation of health organizations to share clinical data for artificial intelligence (AI) development? In this qualitative study, 27 leaders from 18 health organizations were interviewed, and a predominant concern among them was data privacy risks. Most stakeholders viewed these as a substantial barrier for public health data sharing due to potential liability and reputational consequences; however, they identified external incentives as key factors for enhancing organizational motivation and fostering both within and across-sector data-sharing collaborations for AI development. The findings of this study suggest that data-sharing policies should be rooted in feasibility and incentivization strategies to promote responsible and equitable AI development in the health care sector. "

Risk perception and intended behavior change after uninformative genetic results for adult-onset hereditary conditions in unselected patients.
Nandana D Rao et al. Eur J Hum Genet 2023 9

From the abstract: "Overall, 2761 people received uninformative results and 1352 (49%) completed survey items. Respondents averaged 41 years old, 62% were female, and 56% were Non-Hispanic Asian. Results from the FACToR instrument showed mean (SD) scores of 0.92 (1.34), 7.63 (3.95), 1.65 (2.23), and 0.77 (1.50) for negative emotions, positive emotions, uncertainty, and privacy concerns, respectively, suggesting minimal psychosocial harms from genetic screening. Overall, 12.2% and 9.6% of survey respondents believed that their risk of cancer or heart disease, respectively, had changed after receiving their uninformative genetic screening results. Further, 8.5% of respondents planned to make healthcare changes and 9.1% other behavior changes. "

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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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