Wellcome Centre for Ethics and Humanities and the Ethox Centre, Nuffield Department of Population Health, Big Data Institute Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Old Road Campus, Oxford, OX3 7LF, UK.
Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK.
Fam Cancer. 2019 Jul;18(3):293-301. doi: 10.1007/s10689-019-00122-y.
A proportion of breast cancers are attributable to BRCA1 or BRCA2 mutations. Technological advances has meant that mutation testing in newly diagnosed cancer patients can be used to inform treatment plans. Although oncologists increasingly deliver treatment-focused genetic testing (TFGT) as part of mainstream ovarian cancer care, we know little about non-genetics specialists' views about offering genetic testing to newly diagnosed breast cancer patients. This study sought to determine genetics and non-genetics specialists' views of a proposal to mainstream BRCA1 and 2 testing in newly diagnosed breast cancer patients. Qualitative interview study. Nineteen healthcare professionals currently responsible for offering TFGT in a standard (triage + referral) pathway (breast surgeons + clinical genetics team) and oncologists preparing to offer TFGT to breast cancer patients in a mainstreamed pathway participated in in-depth interviews. Genetics and non-genetics professionals' perceptions of mainstreaming are influenced by their views of: their clinical roles and responsibilities, the impact of TFGT on their workload and the patient pathway and the perceived relevance of genetic testing for patient care in the short-term. Perceived barriers to mainstreaming may be overcome by: more effective communication between specialities, clearer guidelines/patient pathways and the recruitment of mainstreaming champions.
一部分乳腺癌是由 BRCA1 或 BRCA2 基因突变引起的。技术的进步意味着可以对新诊断出癌症的患者进行基因突变检测，从而为治疗方案提供依据。尽管肿瘤学家越来越多地将以治疗为重点的基因检测（TFGT）作为卵巢癌常规护理的一部分，但我们对非遗传专家对新诊断出的乳腺癌患者提供基因检测的看法知之甚少。本研究旨在确定遗传学家和非遗传学家对将 BRCA1 和 2 检测纳入新诊断乳腺癌患者常规检测的提议的看法。定性访谈研究。19 名医疗保健专业人员目前负责在标准（分诊+转介）途径中提供 TFGT（乳腺外科医生+临床遗传学团队），以及准备在常规途径中为乳腺癌患者提供 TFGT 的肿瘤学家参加了深入访谈。遗传学家和非遗传学家对主流化的看法受到他们对以下方面的看法的影响：他们的临床角色和责任、TFGT 对他们的工作量和患者途径的影响，以及遗传检测对短期患者护理的相关性的看法。可以通过以下方式克服主流化的障碍：专业之间更有效的沟通、更清晰的指南/患者途径以及招募主流化的拥护者。
