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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
Rare disease therapeutics: The future of medical genetics in a changing landscape
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      • Rimoin D.L.
      • Hirschhorn K.
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      • Anguela X.M.
      • High K.A.
      Entering the modern era of gene therapy.
      Annu Rev Med. 2019; 70: 273-288https://doi.org/10.1146/annurev-med-012017-043332
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      • et al.
      Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.
      Orphanet J Rare Dis. 2022; 17: 60https://doi.org/10.1186/s13023-022-02213-z
      , 
      • Costain G.
      • Walker S.
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      • et al.
      Genome sequencing as a diagnostic test in children with unexplained medical complexity.
      JAMA Netw Open. 2020; 3e2018109https://doi.org/10.1001/jamanetworkopen.2020.18109
      , 
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      • et al.
      Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
      Genet Med. 2018; 20: 435-443https://doi.org/10.1038/gim.2017.119
      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.
      Genet Med. 2008; 10: 502-507https://doi.org/10.1097/gim.0b013e31817701fe
      , 
      • Ormond K.E.
      What is the role of nongeneticist physicians, and are they prepared for it?.
      Virtual Mentor. 2009; 11: 678-682https://doi.org/10.1001/virtualmentor.2009.11.9.medu1-0909
      , 
      • Jenkins B.D.
      • Fischer C.G.
      • Polito C.A.
      • et al.
      The 2019 US medical genetics workforce: a focus on clinical genetics.
      Genet Med. 2021; 23: 1458-1464https://doi.org/10.1038/s41436-021-01162-5
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        View in Article
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        View in Article
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        Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.
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        View in Article
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        • et al.
        Genome sequencing as a diagnostic test in children with unexplained medical complexity.
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        View in Article
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        Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
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        View in Article
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      Article info

      Publication history

      Published online: December 07, 2022
      Accepted: November 8, 2022
      Received in revised form: November 7, 2022
      Received: July 11, 2022

      Publication stage

      In Press Corrected Proof

      Identification

      DOI: https://doi.org/10.1016/j.gim.2022.11.007

      Copyright

      © 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.

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