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The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists

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

Research output: Contribution to journalArticlepeer-review

26 Scopus citations

Abstract

Purpose: The success of genomic medicine hinges on the implementation of genetic knowledge in clinical settings. In novel subspecialties, it requires that clinicians refer patients to genetic evaluation or testing, however referral is likely to be affected by genetic knowledge. Methods: An online survey was administered to self-identified nephrologists working in the United States. Nephrologists’ demographic characteristics, genetic education, confidence in clinical genetics, genetic knowledge, and referral rates of patients to genetic evaluation were collected. Results: In total, 201 nephrologists completed the survey. All reported treating patients with genetic forms of kidney disease, and 37% had referred <5 patients to genetic evaluation. A third had limited basic genetic knowledge. Most nephrologists (85%) reported concerns regarding future health insurance eligibility as a barrier to referral to genetic testing. Most adult nephrologists reported insufficient genetic education during residency (65%) and fellowship training (52%). Lower rating of genetic education and lower knowledge in recognizing signs of genetic kidney diseases were significantly associated with lower number of patients referred to the genetic evaluation (P < .001). Most nephrologists reported that improving their genetic knowledge is important for them (>55%). Conclusions: There is a need to enhance nephrologists’ genetic education to increase genetic testing use in nephrology.

Original languageEnglish
Article number100814
JournalGenetics in Medicine
Volume25
Issue number5
DOIs
StatePublished - May 2023
Externally publishedYes

Keywords

  • Education
  • Genetic knowledge
  • Genomic medicine
  • Nephrology
  • Patient referral

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