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Recommendations for the integration of genomics into clinical practice.

ABSTRACT: 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.Genet Med 18 11, 1075-1084.

SUBMITTER: Bowdin S

PROVIDER: S-EPMC5557020 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature

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Recommendations for the integration of genomics into clinical practice.

Bowdin Sarah S Gilbert Adel A Bedoukian Emma E Carew Christopher C Adam Margaret P MP Belmont John J Bernhardt Barbara B Biesecker Leslie L Bjornsson Hans T HT Blitzer Miriam M D'Alessandro Lisa C A LC Deardorff Matthew A MA Demmer Laurie L Elliott Alison A Feldman Gerald L GL Glass Ian A IA Herman Gail G Hindorff Lucia L Hisama Fuki F Hudgins Louanne L Innes A Micheil AM Jackson Laird L Jarvik Gail G Kim Raymond R Korf Bruce B Ledbetter David H DH Li Mindy M Liston Eriskay E Marshall Christian C Medne Livija L Meyn M Stephen MS Monfared Nasim N Morton Cynthia C Mulvihill John J JJ Plon Sharon E SE Rehm Heidi H Roberts Amy A Shuman Cheryl C Spinner Nancy B NB Stavropoulos D James DJ Valverde Kathleen K Waggoner Darrel J DJ Wilkens Alisha A Cohn Ronald D RD Krantz Ian D ID

Genetics in medicine : official journal of the American College of Medical Genetics 20160512 11

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 fu ...[more]

PMID: 27171546

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Recommendations for the integration of genomics into clinical practice.

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Recommendations for the integration of genomics into clinical practice.

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