Incorporating genetics services into adult kidney disease care

被引:10
作者
Bogyo, Kelsie [1 ,2 ,3 ]
Vena, Natalie [1 ,2 ,4 ]
May, Halie [1 ,4 ]
Rasouly, Hila Milo [1 ,2 ]
Marasa, Maddalena [1 ,2 ]
Sanna-Cherchi, Simone [1 ,2 ,4 ]
Kiryluk, Krzysztof [1 ,2 ,4 ]
Nestor, Jordan [1 ,2 ]
Gharavi, Ali [1 ,2 ,4 ]
机构
[1] Columbia Univ, Vagelos Coll Phys & Surg, Dept Med, Div Nephrol, New York, NY 10032 USA
[2] Columbia Univ, Vagelos Coll Phys & Surg, Dept Med, Ctr Precis Med & Genom, New York, NY 10032 USA
[3] Columbia Univ, Vagelos Coll Phys & Surg, Dept Pathol & Cell Biol, New York, NY 10032 USA
[4] Columbia Univ, Vagelos Coll Phys & Surg, Inst Genom Med, New York, NY 10032 USA
关键词
genetics clinic; genetic testing; kidney genetics; nephrology; renal genetics; MEDICAL GENETICS; AMERICAN-COLLEGE; GENOMICS;
D O I
10.1002/ajmg.c.32004
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Studies have shown that as many as 1 in 10 adults with chronic kidney disease has a monogenic form of disease. However, genetic services in adult nephrology are limited. An adult Kidney Genetics Clinic was established within the nephrology division at a large urban academic medical center to increase access to genetic services and testing in adults with kidney disease. Between June 2019 and December 2021, a total of 363 patients were referred to the adult Kidney Genetics Clinic. Of those who completed genetic testing, a positive diagnostic finding was identified in 27.1%, a candidate diagnostic finding was identified in 6.7% of patients, and a nondiagnostic positive finding was identified in an additional 8.6% of patients, resulting in an overall yield of 42.4% for clinically relevant genetic findings in tested patients. A genetic diagnosis had implications for medical management, family member testing, and eligibility for clinical trials. With the utilization of telemedicine, genetic services reached a diverse geographic and patient population. Genetic education efforts were integral to the clinic's success, as they increased visibility and helped providers identify appropriate referrals. Ongoing access to genomic services will remain a fundamental component of patient care in adults with kidney disease.
引用
收藏
页码:289 / 301
页数:13
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