Divison of Human Genetics, Department of Internal Medicine and the Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA.
Department of Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Endocr Relat Cancer. 2020 Aug;27(8):T65-T75. doi: 10.1530/ERC-19-0454.
The Genetic Counseling Working Group from the 16th International Workshop on Multiple Endocrine Neoplasia (MEN 2019) convened to discuss contemporary challenges and opportunities in the area of genetic counseling for individuals and families affected by hereditary endocrine neoplasia syndromes. As healthcare professionals with multidisciplinary training in human genetics, risk assessment, patient education, psychosocial counseling, and research methodology, genetic counselors bring a unique perspective to working toward addressing these challenges and identifying their subsequent opportunities. This Working Group focused on the following broad areas: (1) genetic counseling resources for endocrine neoplasias, (2) candidate gene discovery, (3) implications of increasingly sensitive and expansive genetic testing technologies for both the germline and the tumors, and (4) situating clinical diagnoses for hereditary endocrine neoplasia syndromes in the context of present-day knowledge.
第 16 届多发性内分泌肿瘤国际研讨会（MEN 2019）遗传咨询工作组召开会议，讨论受遗传性内分泌肿瘤综合征影响的个人和家庭遗传咨询领域当前的挑战和机遇。作为具有人类遗传学、风险评估、患者教育、社会心理咨询和研究方法等多学科培训的医疗保健专业人员，遗传咨询师为应对这些挑战并发现其后的机遇提供了独特的视角。该工作组重点关注以下广泛领域：（1）内分泌肿瘤的遗传咨询资源，（2）候选基因发现，（3）不断提高的敏感性和扩展性的种系和肿瘤遗传检测技术的影响，以及（4）在当今知识背景下对遗传性内分泌肿瘤综合征的临床诊断进行定位。
