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.

To sup­port the frame­work, main­stream genet­ic packs were devel­oped and endorsed by the Can­cer SCN. These packs are avail­able on the Adult Genet­ics Unit AGU web­site for clin­i­cians across the health sys­tem to sup­port main­stream germline test­ing. The packs include infor­ma­tion sheets, flow­charts, con­sent forms, test­ing cri­te­ria, guides, con­sent forms and par­tial­ly filled pathol­o­gy request forms. Edu­ca­tion to sup­port the frame­work and use of the packs was pro­vid­ed to can­cer focussed mul­ti-dis­ci­pli­nary team (MTD) meet­ing across LHNs.

Eval­u­a­tion of the frame­work is under­way, to mea­sure effec­tive­ness in terms of imple­men­ta­tion, util­i­ty and out­comes. Con­sumer expe­ri­ence and sat­is­fac­tion with the main­stream­ing process will also be captured.

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.