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Rare disease therapeutics: The future of medical genetics in a changing landscape

  • Christopher D. Connolly
    Affiliations
    Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, University of Michigan, Ann Arbor, MI
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  • Shane C. Quinonez
    Affiliations
    Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, University of Michigan, Ann Arbor, MI
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  • Elizabeth G. Ames
    Correspondence
    Correspondence and requests for materials should be addressed to Elizabeth G. Ames, Division of Pediatric Genetics, Metabolism & Genomic Medicine, Department of Pediatrics, University of Michigan Health System, University of Michigan, D5240 Medical Professional Building, 1500 E. Medical Center Dr, Ann Arbor, MI 48109
    Affiliations
    Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, University of Michigan, Ann Arbor, MI
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Published:December 07, 2022DOI:https://doi.org/10.1016/j.gim.2022.11.007
      Medical genetics is a unique field of medicine for multiple reasons: we see patients across the age continuum and the origin of medical genetics arose from basic science rather than from a specific organ system or branch of internal medicine.
      • Rimoin D.L.
      • Hirschhorn K.
      A history of medical genetics in pediatrics.
      Few specialties compared with medical genetics have seen as many drastic changes in the past 20 years as our field. As we think about the future of medical genetics, we envision both challenges and enormous opportunities. Technology advancements in both diagnostic and therapeutic realms are being developed at an unprecedented rate.
      • Anguela X.M.
      • High K.A.
      Entering the modern era of gene therapy.
      • Álvarez-Mora M.I.
      • Sánchez A.
      • Rodríguez-Revenga L.
      • et al.
      Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.
      • Costain G.
      • Walker S.
      • Marano M.
      • et al.
      Genome sequencing as a diagnostic test in children with unexplained medical complexity.
      • Lionel A.C.
      • Costain G.
      • Monfared N.
      • et al.
      Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
      Simultaneously, an insufficient geneticist workforce combined with a high demand for clinical services pose a potential threat to our field’s longevity given other specialties’ increasing comfort with genetic testing and use of genetic counselors in their clinics.
      • Korf B.R.
      • Ledbetter D.
      • Murray M.F.
      Report of the Banbury Summit Meeting on the evolving role of the medical geneticist, February 12-14, 2006.
      • Ormond K.E.
      What is the role of nongeneticist physicians, and are they prepared for it?.
      • Jenkins B.D.
      • Fischer C.G.
      • Polito C.A.
      • et al.
      The 2019 US medical genetics workforce: a focus on clinical genetics.
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