Bokkers Kyra, Vlaming Michiel, Engelhardt Ellen G, Zweemer Ronald P, van Oort Inge M, Kiemeney Lambertus A L M, Bleiker Eveline M A, Ausems Margreet G E M
Division Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands.
Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX Amsterdam, The Netherlands.
Cancers (Basel). 2022 Feb 19;14(4):1059. doi: 10.3390/cancers14041059.
Non-genetic healthcare professionals can provide pre-test counseling and order germline genetic tests themselves, which is called mainstream genetic testing. In this systematic review, we determined whether mainstream genetic testing was feasible in daily practice while maintaining quality of genetic care.
PubMed, Embase, CINAHL, and PsychINFO were searched for articles describing mainstream genetic testing initiatives in cancer care.
Seventeen articles, reporting on 15 studies, met the inclusion criteria. Non-genetic healthcare professionals concluded that mainstream genetic testing was possible within the timeframe of a routine consultation. In 14 studies, non-genetic healthcare professionals completed some form of training about genetics. When referral was coordinated by a genetics team, the majority of patients carrying a pathogenic variant were seen for post-test counseling by genetic healthcare professionals. The number of days between cancer diagnosis and test result disclosure was always lower in the mainstream genetic testing pathway than in the standard genetic testing pathway (e.g., pre-test counseling at genetics department).
Mainstream genetic testing seems feasible in daily practice with no insurmountable barriers. A structured pathway with a training procedure is desirable, as well as a close collaboration between genetics and other clinical departments.
非遗传学医疗专业人员可以自行提供检测前咨询并安排种系基因检测，这被称为主流基因检测。在本系统评价中，我们确定了主流基因检测在日常实践中在保持基因医疗质量的同时是否可行。
检索了PubMed、Embase、CINAHL和PsychINFO数据库，以查找描述癌症护理中主流基因检测举措的文章。
17篇文章（报道了15项研究）符合纳入标准。非遗传学医疗专业人员得出结论，主流基因检测在常规咨询的时间范围内是可行的。在14项研究中，非遗传学医疗专业人员完成了某种形式的遗传学培训。当由遗传学团队协调转诊时，大多数携带致病变异的患者会接受遗传学医疗专业人员的检测后咨询。主流基因检测途径中癌症诊断与检测结果披露之间的天数总是低于标准基因检测途径（例如，在遗传学部门进行检测前咨询）。
主流基因检测在日常实践中似乎可行，没有不可逾越的障碍。需要一个带有培训程序的结构化途径，以及遗传学与其他临床科室之间的密切合作。
