Recommendations for the integration of genomics into clinical practice

Sarah Bowdin, Adel Gilbert, Emma Bedoukian, Christopher Carew, Margaret P. Adam, John Belmont, Barbara Bernhardt, Leslie Biesecker, Hans T. Bjornsson, Miriam Blitzer, Lisa C.A. D'Alessandro, Matthew A. Deardorff, Laurie Demmer, Alison Elliott, Gerald L. Feldman, Ian A. Glass, Gail Herman, Lucia Hindorff, Fuki Hisama, Louanne HudginsA. Micheil Innes, Laird Jackson, Gail Jarvik, Raymond Kim, Bruce Korf, David H. Ledbetter, Mindy Li, Eriskay Liston, Christian Marshall, Livija Medne, M. Stephen Meyn, Nasim Monfared, Cynthia Morton, John J. Mulvihill, Sharon E. Plon, Heidi Rehm, Amy Roberts, Cheryl Shuman, Nancy B. Spinner, D. James Stavropoulos, Kathleen Valverde, Darrel J. Waggoner, Alisha Wilkens, Ronald D. Cohn, Ian D. Krantz

Research output: Contribution to journalReview articlepeer-review

82 Scopus citations


The introduction of diagnostic clinical genome and exome sequencing (CGES) is changing the scope of practice for clinical geneticists. Many large institutions are making a significant investment in infrastructure and technology, allowing clinicians to access CGES, especially as health-care coverage begins to extend to clinically indicated genomic sequencing-based tests. Translating and realizing the comprehensive clinical benefits of genomic medicine remain a key challenge for the current and future care of patients. With the increasing application of CGES, it is necessary for geneticists and other health-care providers to understand its benefits and limitations in order to interpret the clinical relevance of genomic variants identified in the context of health and disease. New, collaborative working relationships with specialists across diverse disciplines (e.g., clinicians, laboratorians, bioinformaticians) will undoubtedly be key attributes of the future practice of clinical genetics and may serve as an example for other specialties in medicine. These new skills and relationships will also inform the development of the future model of clinical genetics training curricula. To address the evolving role of the clinical geneticist in the rapidly changing climate of genomic medicine, two Clinical Genetics Think Tank meetings were held that brought together physicians, laboratorians, scientists, genetic counselors, trainees, and patients with experience in clinical genetics, genetic diagnostics, and genetics education. This article provides recommendations that will guide the integration of genomics into clinical practice.

Original languageEnglish (US)
Pages (from-to)1075-1084
Number of pages10
JournalGenetics in Medicine
Issue number11
StatePublished - Nov 1 2016


  • clinical genetics
  • genetics counseling
  • genomics
  • phenotyping
  • precision medicine

ASJC Scopus subject areas

  • Genetics(clinical)


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