Patients favour mainstream breast cancer genetic testing delivered by treating specialists, Australian study finds

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Patients with breast cancer preferred having germline genetic testing coordinated by their treating oncology team rather than attending separate genetics appointments, according to Australian research led by the Peter MacCallum Cancer Centre and the Parkville Familial Cancer Centre.

The mixed-methods study found that mainstream genetic testing delivered through breast specialists was associated with high patient satisfaction and was not linked to differences in decision regret, adaptation to genetic test results or cancer-related worry compared with patients who also received genetic counselling.

Researchers surveyed 68 patients who had undergone mainstream genetic testing through the Parkville Familial Cancer Centre’s breast cancer program in Victoria and conducted in-depth interviews with 20 participants to better understand their experiences.

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Most participants said they preferred the streamlined approach because it integrated genetic testing into their existing cancer care and avoided additional appointments with unfamiliar healthcare professionals. Participants also described valuing the opportunity to discuss genetic testing with a clinician they already knew and trusted, rather than being referred to another service during an already complex period of cancer treatment.

There were no differences between patients who received genetic counselling and those who did not in terms of decision regret, cancer risk perception or adaptation to their genetic test result.

Participants who received genetic counselling demonstrated higher genetics knowledge scores, which the researchers suggested likely reflected the lasting educational impact of counselling among patients who received a positive genetic test result.

Nearly all participants (97%) were satisfied with the timing of testing, while almost 94% felt they had received sufficient information from their treating specialist before consenting to testing. Interview findings suggested patients viewed genetic testing as another routine component of their cancer treatment rather than an additional source of anxiety. Many described making an immediate decision to proceed with testing, recognising that genetic test results could provide clinically relevant information alongside their cancer care and inform family members about inherited cancer risk.

For patients found to carry a pathogenic or likely pathogenic variant, genetic counselling was particularly valued for helping them understand the familial implications of their result and communicate hereditary cancer risk information to relatives. Participants described the additional time and support provided by genetic counsellors as helpful in navigating conversations with family members about genetic testing.

The authors argue these findings support a targeted model in which oncology clinicians facilitate initial genetic testing while specialist genetic counsellors focus on patients with pathogenic or likely pathogenic variants, significant family histories or psychosocial needs.

As demand for hereditary cancer testing continues to grow, the researchers suggest this approach may help direct specialist genetic counselling resources towards patients with the greatest clinical need while integrating genetic testing into routine oncology care.

Although the study was relatively small and retrospective, the findings add to growing evidence supporting mainstream genetic testing pathways as a patient-centred model of care.

The authors conclude that partnerships between oncology services and familial cancer centres appear to provide a patient-centred approach to expanding access to genetic testing while ensuring specialist genetic counselling is available for patients with pathogenic variants, significant family histories or psychosocial needs.


Paper: Beard, C., Monohan, K., Lang, N., Cicciarelli, L., James, P. A., & Forrest, L. E. (2026). Breast cancer patients’ experiences and outcomes of mainstream genetic testing with and without genetic counseling. Future Oncology, 1–8. Access online here.

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