Genetic Mainstreaming - who to test, how to consent and how to embed in routine care

This session explored genetic mainstreaming and how genetic testing and counselling can be integrated into routine breast cancer care, led by non-genetics clinicians. Participants gained a clear understanding of the model and its benefits for improving access, equity, clinical decision-making, and system efficiency.

The webinar highlighted when genetics adds value across the breast cancer pathway—from diagnosis and treatment planning to metastatic care and familial risk assessment. Attendees also developed practical skills in identifying eligible patients, selecting appropriate tests, and delivering concise, culturally sensitive consent.

Learning Objectives

1. Define “genetic mainstreaming” : Articulate what mainstreaming entails, how it differs from traditional referral models, and the expected benefits for access, equity, outcomes, and system efficiency.
2. Explore appropriate use cases across clinical pathways: Identify priority indications and points-in-pathway where genetic testing and counselling add value (e.g., oncology, rare disease, pharmacogenomics, reproductive health), and match these to test types and consent needs.
3. Understand the standardized pathway: Describe the core components of a mainstreamed pathway—patient identification, eligibility criteria, pre-test discussion/consent, ordering, result communication, documentation, and escalation triggers to genetics specialists.
4. Operationalize workflow changes in routine care: Outline the practical steps to embed testing into day-to-day clinics, including role delineation, training, logistics (sample handling, lab interfaces), and turn around time targets.
5. Navigate governance, ethics, and consent: Explain data governance, return-of-results policies (including secondary findings), privacy regulations, and culturally sensitive consent processes for genetic services at scale.
6. Understand what tools are available for healthcare practitioners to learn and assist them in genetic mainstreaming.
7. Apply genetic mainstreaming in breast cancer care: Implement eligibility screening and testing at key pathway points (diagnosis, treatment selection, familial risk), coordinate rapid result reporting for time sensitive decisions, and ensure appropriate cascade testing and referral when indicated.

Speakers:

• Amy Pearn, Registered Genetic Counsellor
• Jenny Gilchrist, Nurse Practitioner in Breast Oncology, Macquarie University Hospital