Direct-to-Patient Genetic Testing Identifies Hereditary Cancer Risk in Survivors

Efficient, scalable approaches are needed to recontact eligible individuals and integrate results into survivorship plans without overburdening clinics. Linking registries with laboratory data and using remote sampling could close these gaps in access. New findings demonstrate that a national, direct-to-patient genetic testing pathway can identify carriers of germline pathogenic variants among previously untested survivors.

At the European Society for Medical Oncology (ESMO) Breast Cancer 2026 congress, investigators presented results from the U.K.-only Retrospective Genetic Testing Program, which used national health records to identify breast and ovarian cancer patients who met tumor-based criteria for testing but had never received it. The initiative employed a home-based saliva kit and a streamlined BRCA-DIRECT pathway to reach eligible survivors directly. The approach was designed to enable prevention, earlier screening, and family risk assessment while supporting a sustainable delivery model.

The program combines centralized, patient-level genetic laboratory data together with highly detailed cancer registrations to automate identification and outreach. By removing several traditional steps—such as routine pre-test consultations for all patients—the pathway reduces workload for health care professionals while maintaining patient engagement. The program focuses on groups with higher likelihood of hereditary disease, including triple-negative, bilateral, and young-onset breast cancer, as well as high-grade serous ovarian cancer.

In the pilot phase, 3,525 survivors diagnosed between 2015 and 2018 were invited to participate. By March 2026, 43.7% had accepted the invitation and completed testing. Pathogenic germline variants (gPV) were identified in 8.6% of tested patients with breast cancer and 10.1% with ovarian cancer. The findings underscore missed opportunities to tailor follow-up care and inform at-risk relatives.

Ongoing evaluation will assess long-term outcomes and equity of access as health systems transition to more data-driven models. The approach also enables automated identification of eligible patients through linked registry and laboratory data, allowing proactive outreach rather than reliance on clinician referral or self-advocacy.

“This approach allows health care professionals to focus their time where it is most needed, particularly on individuals with positive or complex results,” said Antonio Marra, Medical Oncologist at the European Institute of Oncology (IEO IRCCS) in Milan, Italy.

“Based on the program's early outcomes and the integration of the BRCA-DIRECT pathway into routine care, the NHS is commissioning a broader range of direct-to-patient genetic tests, with potential expansion to prostate, pancreatic and colorectal cancer patients,” said Clare Turnbull, Professor of Translational Cancer Genetics at the Institute of Cancer Research, London, U.K., and member of the ESMO Precision Oncology Task Force.

Related Links
European Society for Medical Oncology
Institute of Cancer Research
European Institute of Oncology