Mainstreaming Genetic Testing for Adult Patients With Autosomal Dominant Polycystic Kidney Disease.

ABSTRACT:

Purpose

Genetic testing results are currently obtained approximately 1 year after referral to a medical genetics team for autosomal dominant polycystic kidney disease (ADPKD). We evaluated a mainstream genetic testing (MGT) pathway whereby the nephrology team provided pre-test counseling and selection of patients with suspected ADPKD for genetic testing prior to direct patient interaction by a medical geneticist.

Sources of information

A multidisciplinary team of nephrologists, genetic counselors, and medical geneticists developed an MGT pathway for ADPKD using current testing criteria for adult patient with suspected ADPKD and literature from MGT in oncology.

Methods

An MGT pathway was assessed using a prospective cohort and compared to a retrospective cohort of 56 p

SUBMITTER: Elliott MD 

PROVIDER: S-EPMC8558595 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature