Skip to main content
Premium Trial:

Request an Annual Quote

Polygenic Risk Score Feedback Provides Reporting Insights

Investigators at Harvard University, Brigham and Women's Hospital, and elsewhere share patient and healthcare provider perspectives on polygenic risk score (PRS) reporting for a paper appearing in Genome Medicine. The team relied on survey and qualitative semi-structured interviews with 21 primary care providers and more than two dozen patients to assess the understanding of and responses to mock clinical PRS reports presented in a binary or continuous manner. In general, the researchers found that an accurate understanding of risk tended to be limited to "high numeracy" patients who self-reported a strong understanding of numbers, though they note that "most patients understood the report at a high level." Continuous reports were more well-received than binary reports, they added, and healthcare providers saw potential benefits to the PRS approach overall, while expressing reservations around certain risk scenarios and available recommendations. "Our study suggests the need to investigate effective ways to dispel genetic determinism," the authors argue. "Because our [primary care provider] interviews highlighted that adoption of PRS will depend closely on the nature of existing clinical guidelines for risk management, how report design should vary depending on this availability should also be studied."

The Scan

ChatGPT Does As Well As Humans Answering Genetics Questions, Study Finds

Researchers in the European Journal of Human Genetics had ChatGPT answer genetics-related questions, finding it was about 68 percent accurate, but sometimes gave different answers to the same question.

Sequencing Analysis Examines Gene Regulatory Networks of Honeybee Soldier, Forager Brains

Researchers in Nature Ecology & Evolution find gene regulatory network differences between soldiers and foragers, suggesting bees can take on either role.

Analysis of Ashkenazi Jewish Cohort Uncovers New Genetic Loci Linked to Alzheimer's Disease

The study in Alzheimer's & Dementia highlighted known genes, but also novel ones with biological ties to Alzheimer's disease.

Tara Pacific Expedition Project Team Finds High Diversity Within Coral Reef Microbiome

In papers appearing in Nature Communications and elsewhere, the team reports on findings from the two-year excursion examining coral reefs.