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 renal disease at two tertiary pediatric nephrology services. Interviews were transcribed verbatim, coded, using NVivo software, and thematic analysis was undertaken. Key themes included emotional adjustment to a genetic diagnosis, the importance of parent-provider relationships, empowerment through social connection, and the value of family-centered care. Results highlighted the wide-ranging psychosocial impact of genetic testing on parents, as well as the importance of patient-support networks in enabling parents/families to cope and adapt. Targeted approaches to enhance communication of genetic information and the development of tailored resources to address parents' genetics and health service needs may lead to more satisfactory experiences of genetic testing.

Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life

“…Previous research has also found that parents are less satisfied with clinical services related to their child’s genetic testing when the parent-clinician communication is inconsistent and sporadic 34. Parents in our study especially wanted delays in receiving the result of their child’s genomic test to be communicated to them, which has been found previously 35…”

“…34 Parents in our study especially wanted delays in receiving the result of their child's genomic test to be communicated to them, which has been found previously. 35 Practice implications Our findings have key implications for clinical practice and research regarding communication between clinicians and parents of children with chILD undergoing genomic testing. First, genetic counsellors (or in the case of a research project, the study team) may ensure the parents understand how and where their child's results will be stored, who can access these data and whether the results will affect their child's insurance during the pretest consultation.…”

“… 34 Parents in our study especially wanted delays in receiving the result of their child’s genomic test to be communicated to them, which has been found previously. 35 …”

“…Genetic counsellors may discuss with parents the variable turnaround times to receiving a result of a genomic test during the pretest consultation. 35 Genetic counsellors or the study team may also encourage parents to fully read the information provided to them prior to making a decision. The use of visual aids in these information booklets may be an important way to make the information more digestible.…”

“…First, genetic counsellors (or in the case of a research project, the study team) may ensure the parents understand how and where their child’s results will be stored, who can access these data and whether the results will affect their child’s insurance during the pretest consultation. Genetic counsellors may discuss with parents the variable turnaround times to receiving a result of a genomic test during the pretest consultation 35. Genetic counsellors or the study team may also encourage parents to fully read the information provided to them prior to making a decision.…”