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Pediatric nephrologists’ perspectives and clinical practices related to genetic testing and education

  • Hilda E. Fernandez,
  • Marissa Lipton,
  • Olivia Balderes,
  • Fangming Lin,
  • Maddalena Marasa,
  • Hila Milo Rasouly ,
  • Maya Sabatello

摘要

Background

While genetic testing is now more accessible in pediatric nephrology, little is known about the views of pediatric nephrologists regarding genetic testing in clinical settings.

Methods

An online 41-item survey was developed and distributed via professional listservs to self-identified U.S. licensed pediatric nephrologists from January 22 to May 4, 2021.

Results

Pediatric nephrologists had a high referral rate to genetic counseling and agreed on the significant impact of genetic testing on diagnosis, treatment, prognosis, counseling, and kidney transplant planning. Challenges for the utilization of genetic testing among pediatric nephrologists include the need to (1) learn how to counsel patients on the risks and benefits of genetic testing, (2) choose appropriate testing, (3) interpret genetic results, and (4) return those results to patients and families.

Conclusion

There exists an opportunity to expand genetic testing education for pediatric nephrologists to assist incorporation of genetic testing into clinical practice.

Graphical abstract