TY - JOUR
T1 - Incorporating genetics services into adult kidney disease care
AU - Bogyo, Kelsie
AU - Vena, Natalie
AU - May, Halie
AU - Rasouly, Hila Milo
AU - Marasa, Maddalena
AU - Sanna-Cherchi, Simone
AU - Kiryluk, Krzysztof
AU - Nestor, Jordan
AU - Gharavi, Ali
N1 - Publisher Copyright:
© 2022 Wiley Periodicals LLC.
PY - 2022/9
Y1 - 2022/9
N2 - 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.
AB - 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.
KW - genetic testing
KW - genetics clinic
KW - kidney genetics
KW - nephrology
KW - renal genetics
UR - http://www.scopus.com/inward/record.url?scp=85138610481&partnerID=8YFLogxK
U2 - 10.1002/ajmg.c.32004
DO - 10.1002/ajmg.c.32004
M3 - Article
AN - SCOPUS:85138610481
SN - 1552-4868
VL - 190
SP - 289
EP - 301
JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
IS - 3
ER -