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Abstract: PO1287

Pediatric Nephrologists' Perspectives on Genetic Testing and Return of Results to Children

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Fernandez, Hilda E., Columbia University, New York, New York, United States
  • Lipton, Marissa, Columbia University, New York, New York, United States
  • Balderes, Olivia, Columbia University, New York, New York, United States
  • Milo Rasouly, Hila, Columbia University, New York, New York, United States
  • Lin, Fangming, Columbia University, New York, New York, United States
  • Marasa, Maddalena, Columbia University, New York, New York, United States
  • Gharavi, Ali G., Columbia University, New York, New York, United States
  • Sabatello, Maya, Columbia University, New York, New York, United States
Background

Pediatric (ped) nephrologists care for children with genetic causes of chronic kidney disease (CKD). While genetic testing (GT) is now more accessible in nephrology, little is known about the utility, clinical application, and relevance of GT in determining underlying CKD or other actionable secondary genetic findings for ped nephrology patients. We explored ped nephrologists’ views regarding GT in clinical and research settings.

Methods

An online 30-item survey was developed and distributed via professional listservs. Inclusion criteria required self-identification as a U.S. licensed nephrologist. Data collection was from 1//22/21-5/4/202 and analyzed by STATA 15.1. Descriptive statistics are reported.

Results

85 ped nephrologists completed the survey. Respondents range in yrs in practice (35% 6-15 yrs, 21% 16-25 yrs, 28% > 25 yrs), and 75% practiced in a university hospital. Most had referred > 20 patients for GT (61%). GT was considered clinically important for disease diagnosis (92%), understanding (85%), prognosis (86%), treatment (84%), family counseling (88%), and kidney transplant planning (93%). 68% report they have reliable information for care of patient with genetic results. Top 3 challenges to GT were interpretation of results, selection of test, and ordering test. 86% identified fitting GT into practice as a challenge, and 61% report offering counseling with a genetic expert after return of genetic results. 53% felt patients could not afford GT. Most indicated the importance of having clear guidelines for GT (84%). Majority (70%) would recommend GT for family members, especially in the presence of a tailored lab report (91%). Most are involved in the return of results in their own practice (60%). Regarding the return of research-based results, most thought diagnostic (92%) and actionable secondary findings (75%) should be returned.

Conclusion

Ped nephrologists report on the importance of GT in CKD. They also report on their personal challenges with GT and structural barriers to the utilization of GT.

Funding

  • NIDDK Support