File photo used for representation only.
Doha, Qatar: Hamad Medical Corporation (HMC), in partnership with Qatar Foundation (QF), the Qatar Precision Health Institute (QPHI), Weill Cornell Medicine-Qatar and Hamad bin Khalifa University has led a pioneering pilot study demonstrating how genetic research can be safely and effectively translated into real clinical care. Published in the international journal Biomedicines, the study shows that returning medically actionable genetic findings from Qatar’s national biobank to individuals can support early cancer detection and prevention.
The study focused on harmful variants in the BRCA1 and BRCA2 genes, which are known to significantly increase the risk of breast, ovarian and prostate cancers. While genetic sequencing is widely used in research, returning such findings to individuals requires careful validation, counseling and clinical follow-up. This pilot project tested a structured pathway to bridge that gap within Qatar’s healthcare system.
Researchers analyzed genomic data from 6,142 biobank participants and identified ten individuals carrying pathogenic or likely pathogenic BRCA1/2 variants. All participants were recontacted, provided informed consent and underwent confirmatory testing in an accredited clinical laboratory. Each individual received genetic counseling and was guided into personalized care pathways.
Eight participants with confirmed actionable results entered enhanced cancer surveillance programs. Four women began intensified breast and ovarian screening, while four men entered breast and prostate cancer monitoring programs. Two participants chose a preventive surgical option, which resulted in the early detection of ovarian cancer and endometrial cancer at a stage where treatment outcomes are significantly improved.
The study also extended benefits beyond the initial participants. Cascade testing of family members identified 20 additional relatives carrying BRCA1/2 variants, allowing them to access appropriate screening and preventive care. Importantly, acceptance of genetic result disclosure was high, and adherence to recommended follow-up care remained at 100% over two years.
This pilot demonstrates that Qatar’s biobank and precision medicine infrastructure can successfully translate genomic research into tangible health benefits. By identifying cancer risk before symptoms appear, healthcare providers can offer earlier interventions, tailored surveillance, and informed decision-making.
The initiative represents the first program of its kind in an Arabic population to integrate the return of medically actionable genetic results into routine clinical care. It marks a significant step forward in advancing precision medicine and preventive healthcare in Qatar.
