Center for Individualized Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
J Transl Med. 2023 Jun 23;21(1):410. doi: 10.1186/s12967-023-04183-7.
In the United States, rare disease (RD) is defined as a condition that affects fewer than 200,000 individuals. Collectively, RD affects an estimated 30 million Americans. A significant portion of RD has an underlying genetic cause; however, this may go undiagnosed. To better serve these patients, the Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) was created under the auspices of the Center for Individualized Medicine (CIM) aiming to integrate genomics into subspecialty practice including targeted genetic testing, research, and education.
Patients were identified by subspecialty healthcare providers from 11 clinical divisions/departments. Targeted multi-gene panels or custom exome/genome-based panels were utilized. To support the goals of PRaUD, a new clinical service model, the Genetic Testing and Counseling (GTAC) unit, was established to improve access and increase efficiency for genetic test facilitation. The GTAC unit includes genetic counselors, genetic counseling assistants, genetic nurses, and a medical geneticist. Patients receive abbreviated point-of-care genetic counseling and testing through a partnership with subspecialty providers.
Implementation of PRaUD began in 2018 and GTAC unit launched in 2020 to support program expansion. Currently, 29 RD clinical indications are included in 11 specialty divisions/departments with over 142 referring providers. To date, 1152 patients have been evaluated with an overall solved or likely solved rate of 17.5% and as high as 66.7% depending on the phenotype. Noteworthy, 42.7% of the solved or likely solved patients underwent changes in medical management and outcome based on genetic test results.
Implementation of PRaUD and GTAC have enabled subspecialty practices advance expertise in RD where genetic counselors have not historically been embedded in practice. Democratizing access to genetic testing and counseling can broaden the reach of patients with RD and increase the diagnostic yield of such indications leading to better medical management as well as expanding research opportunities.
在美国，罕见病（RD）被定义为影响少于 20 万人的疾病。据估计，RD 共影响了 3000 万美国人。RD 中有相当一部分有潜在的遗传原因；然而，这可能未被诊断出来。为了更好地服务这些患者，梅奥诊所罕见和未确诊疾病计划（PRaUD）在个体化医学中心（CIM）的支持下成立，旨在将基因组学纳入包括靶向基因检测、研究和教育在内的亚专科实践。
患者由 11 个临床科室/部门的专科医疗提供者确定。使用了靶向多基因面板或定制外显子/基因组面板。为了支持 PRaUD 的目标，建立了一个新的临床服务模式——遗传检测和咨询（GTAC）单元，以提高遗传检测的可及性并提高效率。GTAC 单元包括遗传咨询师、遗传咨询师助理、遗传护士和一名医学遗传学家。患者通过与专科提供者的合作，接受简化的即时遗传咨询和检测。
PRaUD 于 2018 年开始实施，GTAC 单元于 2020 年成立，以支持项目扩展。目前，11 个专科科室/部门包括 29 个 RD 临床指征，有 142 名以上的转诊提供者。迄今为止，已有 1152 名患者接受了评估，总体解决或可能解决率为 17.5%，具体取决于表型，高达 66.7%。值得注意的是，根据基因检测结果，42.7%的解决或可能解决的患者改变了医疗管理和结果。
PRaUD 和 GTAC 的实施使亚专科实践在遗传咨询师未被纳入实践的 RD 领域提高了专业知识。使遗传检测和咨询民主化可以扩大 RD 患者的服务范围，并提高此类指征的诊断率，从而改善医疗管理，并扩大研究机会。
