Germline Testing

Germline test­ing pro­vides impor­tant infor­ma­tion to guide treat­ment deci­sions in can­cer care. The use of germline test­ing in can­cer care has expand­ed rapid­ly in recent years, part­ly due to the growth in knowl­edge and tech­nol­o­gy around genet­ic test­ing, includ­ing new treat­ment options avail­able based on genet­ic test­ing results and an expan­sion in eli­gi­bil­i­ty cri­te­ria for germline testing.

To sup­port a stream­lined and con­sis­tent path­way for patients access­ing germline test­ing, the Can­cer Statewide Clin­i­cal Net­work (CSCN) iden­ti­fied the need for a co-devel­oped statewide frame­work. The devel­op­ment of the frame­work was guid­ed by a mul­ti-dis­ci­pli­nary work­ing group, includ­ing rep­re­sen­ta­tion from SA Pathol­o­gy, Ade­laide Genet­ics Unit (AGU), Local Health Net­works (LHN) and consumers.

The work­ing group, led by Dr Eryn Dow Clin­i­cal Can­cer Geneti­cist from AGU, under­took con­sul­ta­tion with rel­e­vant stake­hold­ers across all SA LHNs which informed a com­pre­hen­sive review of the cur­rent germline test­ing prac­tice and path­ways across LHNs.

This work has now been completed. To read more about the project outcomes and detailed evaluation of the project, the full research study has been published in the Asia-Pacific Journal of Clinical Oncology. You can access it here:
Development and Real-World Evaluation of a Statewide Mainstream Model of Germline Genetic Testing for BRCA1/2 and Mismatch Repair (MMR) Gene Variants

Key Outcomes:

• Significant increase in mainstream BRCA1/2 genetic testing uptake across South Australia

• High levels of acceptability among clinicians and patients using the new testing pathway

• Identification of implementation challenges unique to MMR gene variant testing, underscoring the need for tailored approaches

• Demonstration that embedding implementation science through the CEIH Project Lifecycle supports effective translation of research into routine clinical practice

• To learn more about the framework, continue reading below.

Enhancing Mainstream Germline Genetic Testing Support

Healthcare workers play a vital role in ensuring patients have access to comprehensive information about their healthcare options. To support the framework, we have developed resources to further support those undergoing Mainstream Germline Genetic Testing for Cancer.

Streamlined Patient Education:

To support the framework, mainstream genetic packs are available on the Adult Genetics Unit website for clinicians across the health system to support mainstream germline testing. These packs include information sheets, flowcharts, consent forms, testing criteria, guides, consent forms and partially filled pathology request forms.

Empowering Informed Decisions:

An informative video has also been developed, specifically designed for patients after their consultation with a cancer specialist. It offers clear and concise information about genetic testing, allowing patients to learn more at their own pace and ask informed questions during their appointments.

The Patient Information Sheet included in the packs is in the process of being updated to include a link to the video. Healthcare professionals. Healthcare professionals can also share this link directly with patients. This empowers patients to participate actively in their healthcare journey and make informed decisions about their testing options.

Working Together:

By utilising the Mainstream Germline Genetic Testing Packs and the informative video, healthcare professionals can ensure their patients have access to the information they need throughout their cancer care journey.

We would like to thank SA Pathol­o­gy for their con­tri­bu­tion toward the project to enable high lev­el high lev­el data over­sight and enable the eval­u­a­tion and mon­i­tor­ing of main­stream­ing germline test­ing rates.