BERLIN, Germany 7 May 2026 – Hundreds of thousands of people diagnosed with cancer are still alive today but were never genetically tested, either because testing was not available or was not routinely offered at the time of their diagnosis. These patients are just as likely as those diagnosed today to carry a germline pathogenic variant (gPV) – a heritable genetic alteration – that increases cancer risk.
A study presented at the ESMO Breast Cancer 2026 congress examines whether an efficiently delivered genetic testing can identify gPV carriers among previously untested patients, enabling prevention, earlier screening, and family risk assessment, while supporting a sustainable healthcare delivery model. (1)
The study reports on the UK-only Retrospective Genetic Testing Programme, which used national health records to identify patients with breast and ovarian cancer eligible for genetic testing based on tumour characteristics, but who had never been offered it.
“The Programme exemplifies the value of highly detailed cancer registrations and national centralization of patient level genetic laboratory data” says Clare Turnbull, Professor of Translational Cancer Genetics at the Institute of Cancer Research, London, UK and member of the ESMO Precision Oncology Task Force.
In the pilot phase, 3,525 patients diagnosed between 2015 and 2018 were invited to take part using a simple, home‑based saliva test. By March 2026, 43.7% had accepted the invitation; completed testing revealed inherited cancer‑related gene variants in 8.6% of patients with breast cancer and 10.1% with ovarian cancer.
The findings highlight missed opportunities to deliver more personalised follow‑up care, surveillance and to inform at‑risk family members. The pilot focused on patient groups with a strong likelihood of hereditary cancer, including triple‑negative, bilateral and young‑onset breast cancer, as well as high‑grade serous ovarian cancer.
“A particularly important group for this approach are women who survived young‑onset breast cancer and may now be approaching the age at which, if they carry a germline pathogenic variant in BRCA1 or BRCA2, their risk of ovarian cancer becomes very high,” says Turnbull.
While continued evaluation of long‑term outcomes and equity of access to gPV testing remains essential, the study shows that a simplified approach to genetic testing – the BRCA‑DIRECT pathway – is potentially feasible at scale, without increasing workload for healthcare professionals.
“This approach allows healthcare professionals to focus their time where it is most needed, particularly on individuals with positive or complex results,” comments Antonio Marra, Medical Oncologist at the European Institute of Oncology (IEO IRCCS) in Milan, Italy, who was not involved in the study. “By removing several traditional steps, including routine pre-test consultations for all patients, the pathway can be streamlined without compromising patient experience or engagement,” he continues, underscoring that this type of model reflects a shift towards more efficient, patient-centred care delivery, where clearly identified elements of the pathway can be safely decentralised.
The study also marks a step towards data‑driven, automated identification of eligible patients through linked cancer registry and genetic laboratory data, allowing healthcare systems to proactively reach individuals who may otherwise be missed, rather than relying solely on clinician referral or patient self-advocacy. “This has important implications for the efficient use of healthcare resources,” says Marra. “Identifying patients at scale enables more targeted interventions and a more effective allocation of clinical expertise and infrastructure.”
As health systems move towards more streamlined, data‑driven models of genetic testing, approaches like the one applied in the UK could help build more sustainable and equitable pathways for delivering precision medicine.
“Based on the programme’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,” Turnbull concludes.
References
1 LBA 3 ‘The UK retrospective genetic testing programme: Utilising linkage of nationally collected data to identify and offer germline genetic testing to patients with historic diagnoses of breast or ovarian cancer’ will be presented by Clare Turnbull during Rapid Oral Session 1 on Thursday 7 May, 08:30 - 10:00 CEST, in Berlin Hall.