Tahlia Scheinberg1,2,3, Annabel Goodwin4,5, Emilia Ip5,6, Anthony Linton3,4, Blossom Mak1,2,3, David P Smith3,7,8, Martin R Stockler1,3,4,9, Madeleine C Strach1,3, Ben Tran10,11,12,13, Alison L Young3,14, Alison Y Zhang1,3,15, Kate L Mahon1,2,3,9, Lisa G Horvath1,2,3,9. 1. Medical Oncology, Chris O'Brien Lifehouse, Camperdown, New South Wales, Australia. 2. Clinical Prostate Cancer Group, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia. 3. Faculty of Medicine and Health, University of Sydney, Camperdown, New South Wales, Australia. 4. Medical Oncology, Concord Repatriation General Hospital, Concord, New South Wales, Australia. 5. Cancer Genetics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia. 6. Cancer Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia. 7. Cancer Research Division, Cancer Council NSW, New South Wales, Australia. 8. School of Public Health and Preventive Medicine, Monash University, Melbourne, Victoria, Australia. 9. Medical Oncology, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia. 10. Medical Oncology, Peter MacCallum Cancer Centre, Parkville, Victoria, Australia. 11. Division of Systems Biology and Personalised Medicine, Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia. 12. Faculty of Medicine, Dentistry, and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia. 13. Medical Oncology, Epworth Freemasons, East Melbourne, Victoria, Australia. 14. Sydney Catalyst Translational Research Centre, The University of Sydney, Camperdown, New South Wales, Australia. 15. Medical Oncology, Macquarie University Hospital, Macquarie University, New South Wales, Australia.
Abstract
PURPOSE: To identify the approximately 12% with inherited cancer predisposition, all men with metastatic prostate cancer (mPC) should be offered germline genetic testing. This guides treatment choices and impacts cancer prevention in the family. Limited genetic services globally present a barrier to testing. This study tested a potential solution, "mainstreaming," where counseling and testing are performed by the patient's oncologist. PATIENTS AND METHODS: Men with mPC at three Australian sites were offered germline genetic testing at their medical oncology appointment. Panel testing (ATM, BRCA1, BRCA2, BRIP1, CHEK2, EPCAM, FANCA, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51D, and TP53) was performed on saliva/blood (Invitae, San Francisco, CA). Primary outcomes were clinician and patient satisfaction. Secondary outcomes included mutation rates and resource allocation. RESULTS: Of 66 men offered testing, 63 (95%) accepted. Four pathogenic variants were identified (two BRCA2, one NBN, and one MSH6). Fifty patients and nine clinicians completed questionnaires. Satisfaction was high. All patients were pleased to have had testing overall, 98% (46 of 47) to have had testing at their usual oncology appointment, and all to receive results from their usual specialist, rather than a separate genetics appointment. A total of 88% (7 of 8) of clinicians felt confident, and all were satisfied with mainstreaming. Mainstreaming was resource efficient, requiring 87% fewer genetic consultations than traditional genetic counseling. CONCLUSION: This study demonstrates that mainstreaming of men with mPC is feasible, resource efficient, and satisfactory for clinicians and patients. Widespread implementation as standard of care would facilitate timely access to genetic testing for men with mPC.
PURPOSE: To identify the approximately 12% with inherited cancer predisposition, all men with metastatic prostate cancer (mPC) should be offered germline genetic testing. This guides treatment choices and impacts cancer prevention in the family. Limited genetic services globally present a barrier to testing. This study tested a potential solution, "mainstreaming," where counseling and testing are performed by the patient's oncologist. PATIENTS AND METHODS: Men with mPC at three Australian sites were offered germline genetic testing at their medical oncology appointment. Panel testing (ATM, BRCA1, BRCA2, BRIP1, CHEK2, EPCAM, FANCA, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51D, and TP53) was performed on saliva/blood (Invitae, San Francisco, CA). Primary outcomes were clinician and patient satisfaction. Secondary outcomes included mutation rates and resource allocation. RESULTS: Of 66 men offered testing, 63 (95%) accepted. Four pathogenic variants were identified (two BRCA2, one NBN, and one MSH6). Fifty patients and nine clinicians completed questionnaires. Satisfaction was high. All patients were pleased to have had testing overall, 98% (46 of 47) to have had testing at their usual oncology appointment, and all to receive results from their usual specialist, rather than a separate genetics appointment. A total of 88% (7 of 8) of clinicians felt confident, and all were satisfied with mainstreaming. Mainstreaming was resource efficient, requiring 87% fewer genetic consultations than traditional genetic counseling. CONCLUSION: This study demonstrates that mainstreaming of men with mPC is feasible, resource efficient, and satisfactory for clinicians and patients. Widespread implementation as standard of care would facilitate timely access to genetic testing for men with mPC.
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