Perspectives on the future of dysmorphology.

Journal: American journal of medical genetics. Part A
PMID: 36484420

Abstract

The field of clinical genetics and genomics continues to evolve. In the past few decades, milestones like the initial sequencing of the human genome, dramatic changes in sequencing technologies, and the introduction of artificial intelligence, have upended the field and offered fascinating new insights. Though difficult to predict the precise paths the field will follow, rapid change may continue to be inevitable. Within genetics, the practice of dysmorphology, as defined by pioneering geneticist David W. Smith in the 1960s as "the study of, or general subject of abnormal development of tissue form" has also been affected by technological advances as well as more general trends in biomedicine. To address possibilities, potential, and perils regarding the future of dysmorphology, a group of clinical geneticists, representing different career stages, areas of focus, and geographic regions, have contributed to this piece by providing insights about how the practice of dysmorphology will develop over the next several decades.

Authors

  • Benjamin D Solomon
  • Margaret P Adam
    Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Chin-To Fong
    Department of Genetics, University of Rochester, Rochester, New York, USA.
  • Katta M Girisha
    Department of Medical Genetics, Kasturba Medical College Manipal, Manipal University, India.
  • Judith G Hall
    University of British Columbia and Children's and Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada.
  • Anna C E Hurst
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Peter M Krawitz
    Institute for Genomic Statistic and Bioinformatics, University Hospital Bonn, Rheinische-Friedrich-Wilhelms University, Bonn, Germany.
  • Shahida Moosa
    Division of Molecular Biology and Human Genetics, Stellenbosch University and Medical Genetics, Tygerberg Hospital, Tygerberg, South Africa.
  • Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
  • Cedrik Tekendo-Ngongang
    Medical Genomics Unit, National Human Genome Research Institute, Bethesda, MD.
  • Tara L Wenger
    Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.

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