Genetic Testing in the Pediatric Nephrology Clinic: Understanding Families' Experiences.

ABSTRACT: Genomics is rapidly being integrated into the routine care of children and families living with renal disease, principally as a diagnostic tool but also to direct therapy, identify at-risk relatives, and facilitate family planning. However, despite significant progress in understanding the genetic heterogeneity of inherited renal disease, the impact of genetic testing on parents and families of affected children is not well understood. This study aimed to investigate the experiences of families undergoing genetic testing, the psychosocial impact of receiving a genetic test result, and parent information and support needs. In-depth semistructured interviews were conducted with 26 parents of pediatric patients (<18 years of age) who had undergone genomic investigation for a suspected genetic

SUBMITTER: Nevin SM 

PROVIDER: S-EPMC9236744 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature