Medical genetics education for pediatrics residents: A brief report

  • Ryan W. Gates
    Correspondence and requests for materials should be addressed to Ryan W. Gates, Center for Academic Medicine, 453 Quarry Road - Medical Genetics #5660, Stanford, CA 94305
    Department of Pediatrics, Stanford University School of Medicine, Stanford, CA

    Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA
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  • Louanne Hudgins
    Department of Pediatrics, Stanford University School of Medicine, Stanford, CA

    Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA
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  • Lynne C. Huffman
    Department of Pediatrics, Stanford University School of Medicine, Stanford, CA

    Division of Developmental and Behavioral Pediatrics, Department of Pediatrics, Stanford Medicine, Stanford, CA
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Published:August 27, 2022DOI:



      Genetic testing is ubiquitous in the field of medicine and is often ordered or requested by primary care providers, nongenetics subspecialists, and patients themselves. Other studies have shown that providers are often not comfortable ordering genetic testing. There have been initiatives to teach these concepts via continuing medical education; however, there is not a standardized training program for teaching resident physicians about genetic testing.


      During September to October 2020, we recruited all the pediatrics residents at our institution via email (N = 102). Residents were invited to complete a Qualtrics electronic survey that addressed self-perceived level of knowledge about core concepts of genetic testing, as well as self-perceived confidence discussing these concepts with families.


      Response rate was 46 to 102 (45%). Proportions of respondents reporting they felt insufficiently knowledgeable ranged from 28% (basic concepts of genetics) to 80% (Genetic Information Nondiscrimination Act). Most pediatrics residents agreed that a curriculum teaching basics of genetic testing would be helpful to them. Desired curricular topics included indications and limitations of genetic testing, testing procedures, and counseling families.


      Despite its expanding importance across medicine, genetics education is lacking in pediatrics residency programs and residents would benefit from a curriculum teaching basic concepts of genetic testing.


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