Whole-Exome Sequencing Study Unlocks Genetic Insights

A new study by Mayo Clinic has achieved a significant step forward in integrating genomics into everyday clinical practice. Using whole-exome sequencing (WES), the Tapestry study identified genetic risks for hereditary conditions such as certain cancers, Lynch syndrome, and familial hypercholesterolemia in a large cohort of over 98,000 participants.

From 2020 to 2024, the study found actionable genetic variants in 1.9 percent of participants (1,819 individuals). Among these, 50 percent were linked to hereditary breast and ovarian cancer syndrome, 28.4 percent to familial hypercholesterolemia, and 22.2 percent to Lynch syndrome. Notably, 65 percent of participants with these genetic findings had no prior family history of the associated conditions, showcasing the ability of genetic testing to reveal hidden risks.

Participants, aged 18 and older, provided saliva samples for DNA analysis using Helix' Exome+ assay. Results focused on CDC Tier 1 genes and were stored in electronic health records (EHRs) for clinical use. The study prioritized accessibility, offering at-home saliva kits and focusing on under-represented groups, which made up 10.8 percent of participants.

The findings had practical impacts, leading to medical actions and family testing; for example, 10.5 percent of participants with BRCA1/2 variants opted for preventive surgeries. Genetic counseling was essential, with 25 percent of participants receiving consultations to understand their results and plan care.

The Tapestry study shows that large-scale genomic testing can be integrated into diagnostics and clinical care, providing actionable insights for patients and supporting further research. Future phases, such as Tapestry 2.0, will explore additional biological factors, expanding the scope of precision medicine and offering deeper insights into disease mechanisms.