Vanneste Rachel, Bauer Sasha A, Borle Kennedy, Dreikorn Erika
Division of Medical Genetics, Department of Pediatrics, University of Saskatchewan, Saskatoon, SK S7N 0W8, Canada.
Department of Medical Oncology, UW Health Northern Illinois, Rockford, IL 61114, United States.
Fam Pract. 2025 Feb 7;42(2). doi: 10.1093/fampra/cmae057.
Collectively, rare diseases are common, affecting approximately 8% of the population in Canada and the USA. Therefore, the majority of primary care (PC) clinicians will care for patients who are affected or at risk for a genetic disease. Considering the increasing ways in which genetics is being implemented into all areas of healthcare, one way to address these needs and expand the capacity of the PC workforce is through the integration of genetic counselors (GCs) into PC multidisciplinary teams. GCs are Masters-educated allied health professionals with specialized training in molecular genetics, communication, and short-term psychotherapeutic counseling. The current models of GCs in PC mimic other multidisciplinary models. Complex tasks related to genetics, such as pre- and post-test counseling, genetic test selection, and results interpretation, are conducted by GCs, which, in turn, allows physicians, nurse practitioners, and other PC providers to work at the top of their scope of practice. Quality genetics services provided by GCs improve clinical outcomes for patients and their families; the simultaneous provision of genetic education and psychological support by a GC is associated with an increase in patient knowledge, perceived personal control, decrease in distress, and can lead to positive health behavior changes, all of which are aligned with the goals of primary healthcare. With their extensive training in clinical care, medical communication, and psychotherapeutic counseling, integrating GCs into PC care teams will improve the care patients receive and allow PC clinicians to ensure their patients are at the forefront of the personalized medicine revolution.
总体而言,罕见病很常见,影响了加拿大和美国约8%的人口。因此,大多数初级保健(PC)临床医生会照顾患有遗传疾病或有遗传疾病风险的患者。考虑到遗传学在医疗保健各个领域的应用方式不断增加,满足这些需求并扩大PC医疗队伍能力的一种方法是将遗传咨询师(GCs)纳入PC多学科团队。GCs是拥有硕士学位的专职医疗专业人员,在分子遗传学、沟通和短期心理治疗咨询方面接受过专业培训。PC中GCs的当前模式模仿了其他多学科模式。与遗传学相关的复杂任务,如检测前和检测后咨询、基因检测选择和结果解释,由GCs进行,这反过来又使医生、执业护士和其他PC提供者能够在其执业范围内最大限度地发挥作用。GCs提供的高质量遗传学服务改善了患者及其家庭的临床结局;GC同时提供遗传教育和心理支持与患者知识增加、自我控制感增强、痛苦减轻相关,并可导致积极的健康行为改变,所有这些都与初级医疗保健的目标一致。凭借其在临床护理、医学沟通和心理治疗咨询方面的广泛培训,将GCs纳入PC护理团队将改善患者接受的护理,并使PC临床医生能够确保其患者处于个性化医疗革命的前沿。