Medical Oncology, Chris O'Brien Lifehouse, Camperdown, New South Wales, Australia.
Clinical Prostate Cancer Group, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
JCO Oncol Pract. 2021 Feb;17(2):e204-e216. doi: 10.1200/OP.20.00399. Epub 2020 Sep 24.
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.
Men with mPC at three Australian sites were offered germline genetic testing at their medical oncology appointment. Panel testing (, , , , , , , , , , , , , , , and ) was performed on saliva/blood (Invitae, San Francisco, CA). Primary outcomes were clinician and patient satisfaction. Secondary outcomes included mutation rates and resource allocation.
Of 66 men offered testing, 63 (95%) accepted. Four pathogenic variants were identified (two , one , and one ). 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.
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.
为了确定约 12%具有遗传性癌症易感性的患者,所有转移性前列腺癌(mPC)男性都应进行种系基因检测。这可以指导治疗选择,并对家族中的癌症预防产生影响。全球有限的遗传服务是检测的障碍。本研究测试了一种潜在的解决方案,即“主流化”,即由患者的肿瘤学家提供咨询和检测。
在澳大利亚的三个地点,对患有 mPC 的男性在其肿瘤内科就诊时提供种系基因检测。使用唾液/血液(加利福尼亚州旧金山的 Invitae)进行面板检测(、、、、、、、、、、、、、、、和)。主要结局是临床医生和患者的满意度。次要结局包括突变率和资源分配。
在 66 名接受检测的男性中,有 63 名(95%)接受了检测。发现了 4 种致病性变体(2 种、1 种、1 种)。有 50 名患者和 9 名临床医生完成了问卷调查。满意度很高。所有患者总体上对检测感到满意,98%(46/47)对在其常规肿瘤学就诊时进行检测感到满意,所有患者都希望从其常规专家那里获得结果,而不是从单独的遗传学预约中获得结果。共有 88%(7/8)的临床医生感到有信心,并且都对主流化感到满意。主流化是一种资源高效的方法,与传统的遗传咨询相比,需要的遗传咨询减少了 87%。
本研究表明,将 mPC 男性的种系基因检测主流化是可行的、资源高效的,并且对临床医生和患者都满意。作为标准护理的广泛实施将有助于及时为 mPC 男性提供基因检测。