关键词: Clinical model genetic counselling genetic testing homologous recombination repair genes metastatic castration-resistant prostate cancer

Mesh : Humans Male Singapore Genetic Testing / methods Prostatic Neoplasms, Castration-Resistant / genetics pathology Genetic Counseling / methods Patient Selection Mutation Neoplasm Metastasis

来  源:   DOI:10.47102/annals-acadmedsg.2022372

Abstract:
UNASSIGNED: There has been a rapid evolution in the treatment strategies for metastatic castration-resistant prostate cancer (mCRPC) following the identification of targetable mutations, making genetic testing essential for patient selection. Although several international guidelines recommend genetic testing for patients with mCRPC, there is a lack of locally endorsed clinical practice guidelines in Singapore.
UNASSIGNED: A multidisciplinary specialist panel with representation from medical and radiation oncology, urology, pathology, interventional radiology, and medical genetics discussed the challenges associated with patient selection, genetic counselling and sample processing in mCRPC.
UNASSIGNED: A clinical model for incorporating genetic testing into routine clinical practice in Singapore was formulated. Tumour testing with an assay that is able to detect both somatic and germline mutations should be utilised. The panel also recommended the \"mainstreaming\" approach for genetic counselling in which pre-test counselling is conducted by the managing clinician and post-test discussion with a genetic counsellor, to alleviate the bottlenecks at genetic counselling stage in Singapore. The need for training of clinicians to provide pre-test genetic counselling and educating the laboratory personnel for appropriate sample processing that facilitates downstream genetic testing was recognised. Molecular tumour boards and multidisciplinary discussions are recommended to guide therapeutic decisions in mCRPC. The panel also highlighted the issue of reimbursement for genetic testing to reduce patient-borne costs and increase the reach of genetic testing among this patient population.
UNASSIGNED: This article aims to provide strategic and implementable recommendations to overcome the challenges in genetic testing for patients with mCRPC in Singapore.
摘要:
在确定可靶向突变后,转移性去势抵抗性前列腺癌(mCRPC)的治疗策略迅速发展,使基因检测对患者选择至关重要。尽管一些国际指南建议对mCRPC患者进行基因检测,新加坡缺乏当地认可的临床实践指南.
由医学和放射肿瘤学代表的多学科专家小组,泌尿科,病理学,介入放射学,和医学遗传学讨论了与患者选择相关的挑战,mCRPC中的遗传咨询和样本处理。
制定了将基因检测纳入新加坡常规临床实践的临床模型。应该使用能够检测体细胞和种系突变的测定法进行肿瘤测试。该小组还建议对遗传咨询采取“主流化”方法,其中由管理临床医生进行测试前咨询,并与遗传顾问进行测试后讨论,缓解新加坡遗传咨询阶段的瓶颈。人们认识到需要培训临床医生,以提供测试前的遗传咨询,并教育实验室人员进行适当的样品处理,以促进下游基因检测。建议分子肿瘤委员会和多学科讨论来指导mCRPC的治疗决策。小组还强调了基因检测的报销问题,以减少患者承担的费用并增加该患者人群中基因检测的范围。
本文旨在提供战略性和可实施的建议,以克服新加坡mCRPC患者基因检测中的挑战。
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