Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics.

Journal: American journal of medical genetics. Part A
Published Date: May 15, 2025

Abstract

Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will affect, medical genetics. The authors who contributed to this collection of essays intentionally represent different areas of expertise, career stages, and geographies, and include diverse types of clinicians, computer scientists, and researchers. The individual pieces cover a wide range of areas related to medical genetics; we expect that these pieces may provide helpful windows into the ways in which AI is being actively studied, used, and considered in medical genetics.

Authors

  • Benjamin D Solomon
  • Morgan Cheatham
    Departments of1Neurosurgery and.
  • Thales A C de Guimarães
    Moorfields Eye Hospital National Health Service Foundation Trust, London, UK.
  • Dat Duong
  • Melissa A Haendel
    Library, Oregon Health & Science University, Portland, OR 97239, USA.
  • Tzung-Chien Hsieh
    Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
  • Behnam Javanmardi
    Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
  • Britt Johnson
    Invitae Corporation, San Francisco, California, USA.
  • Peter Krawitz
    Institute for Genomic Statistics and Bioinformatics, University Bonn, Bonn, Germany.
  • Paul Kruszka
    GeneDx, LLC, Gaithersburg, Maryland, USA.
  • Tim Laurent
    GeneDx, LLC, Gaithersburg, Maryland, USA.
  • Ni-Chung Lee
    Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
  • Kirsty McWalter
    GeneDx, LLC, Gaithersburg, Maryland, USA.
  • Michel Michaelides
    University College London Institute of Ophthalmology, London, UK.
  • Klaus Mohnike
    Medical Faculty, Otto-Von-Guericke-University Magdeburg, Magdeburg, Germany.
  • Nikolas Pontikos
    University College London Institute of Ophthalmology, London, UK n.pontikos@ucl.ac.uk.
  • Maria J Guillen Sacoto
    GeneDx, LLC, Gaithersburg, Maryland, USA.
  • Yousif J Shwetar
    Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
  • Vincent D Ustach
    GeneDx, LLC, Gaithersburg, Maryland, USA.
  • Rebekah L Waikel
  • William Woof
    UCL Institute of Ophthalmology, University College London, London, UK.

Keywords

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