Department of Medicine, The University of Chicago, Chicago, IL.
Department of Medicine, The University of Chicago, Chicago, IL.
Genet Med. 2023 Apr;25(4):100019. doi: 10.1016/j.gim.2023.100019. Epub 2023 Jan 20.
Maturity-onset diabetes of the young (MODY) represents a heterogenous group of monogenic diabetes. Despite its autosomal dominant inheritance, many MODY participants in the University of Chicago Monogenic Diabetes Registry have no family members enrolled. We aimed to gather data on the Registry participants' experiences in (1) receipt of an accurate diagnosis, (2) decisions regarding disclosure of their MODY genetic test results with biological relatives, and (3) recommendations toward our Registry's processes and outreach.
We conducted 20 one-on-one semistructured interviews with adult Registry participants.
All participants found navigating the health care system challenging because of the providers' unfamiliarity with MODY and dismissal of its importance post diagnosis. All had shared their results with at least 1 relative, however many found their relatives resistant to engaging with their providers. Participants wanted to receive targeted information on their condition and connect with other participants who have faced similar diagnostic and treatment challenges.
Our results demonstrate that our probands faced resistance to reclassification of their diabetes from both health care providers and relatives. In an effort to improve cascade testing, the Registry is designing a portal to facilitate participant-research team communication and provide additional supports for participants to involve family members in testing.
青年发病型糖尿病（MODY）代表了一组异质性的单基因糖尿病。尽管它是常染色体显性遗传，但芝加哥大学单基因糖尿病登记处的许多 MODY 参与者没有登记的家庭成员。我们旨在收集登记处参与者在以下方面的经验数据：（1）获得准确诊断；（2）决定是否向生物亲属透露其 MODY 基因检测结果；（3）对我们登记处的流程和外展提出建议。
我们对 20 名成年登记处参与者进行了 20 次一对一的半结构化访谈。
所有参与者都发现由于提供者对 MODY 不熟悉以及在诊断后对其重要性的忽视，他们在就医过程中遇到了挑战。所有人都至少与 1 名亲属分享了他们的结果，但许多人发现他们的亲属不愿与他们的提供者接触。参与者希望获得有关其病情的针对性信息，并与其他面临类似诊断和治疗挑战的参与者联系。
我们的结果表明，我们的先证者在从医疗保健提供者和亲属那里重新分类他们的糖尿病方面都面临阻力。为了改进级联测试，登记处正在设计一个门户，以促进参与者-研究团队之间的沟通，并为参与者提供更多的支持，以便让家庭成员参与测试。
