Journal article
Recommendations for the integration of genomics into clinical practice
Genetics in medicine, v 18(11), pp 1075-1084
Nov 2016
PMID: 27171546
Featured in Collection : UN Sustainable Development Goals @ Drexel
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 Med18 11, 1075–1084.
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Details
- Title
- Recommendations for the integration of genomics into clinical practice
- Creators
- Sarah Bowdin - University of TorontoAdel Gilbert - University of TorontoEmma Bedoukian - University of PennsylvaniaChristopher Carew - University of TorontoMargaret P. Adam - Seattle Children's HospitalJohn Belmont - Baylor College of MedicineBarbara Bernhardt - Hospital of the University of PennsylvaniaLeslie Biesecker - National Human Genome Research InstituteHans T. Bjornsson - Johns Hopkins MedicineMiriam Blitzer - University of Maryland, BaltimoreLisa C.A. D’Alessandro - University of TorontoMatthew A. Deardorff - University of PennsylvaniaLaurie Demmer - Carolinas Medical CenterAlison Elliott - University of British ColumbiaGerald L. Feldman - Wayne State UniversityIan A. Glass - Seattle Children's HospitalGail Herman - Nationwide Children's HospitalLucia Hindorff - National Human Genome Research InstituteFuki Hisama - University of WashingtonLouanne Hudgins - Stanford UniversityA. Micheil Innes - Alberta Children's HospitalLaird Jackson - Drexel UniversityGail Jarvik - National Human Genome Research InstituteRaymond Kim - Drexel UniversityBruce Korf - University of Alabama at BirminghamDavid H. Ledbetter - Geisinger Health SystemMindy Li - University of PennsylvaniaEriskay Liston - Drexel UniversityChristian Marshall - University of TorontoLivija Medne - University of TorontoM. Stephen Meyn - Drexel UniversityNasim Monfared - Drexel UniversityCynthia Morton - Brigham and Women's HospitalJohn J. Mulvihill - University of OklahomaSharon E. Plon - Baylor College of MedicineHeidi Rehm - Brigham and Women's HospitalAmy Roberts - Boston Children's HospitalCheryl Shuman - Drexel UniversityNancy B. Spinner - Children's Hospital of PhiladelphiaD. James Stavropoulos - University of TorontoKathleen Valverde - Arcadia UniversityDarrel J. Waggoner - University of ChicagoAlisha Wilkens - University of PennsylvaniaRonald D. Cohn - Drexel UniversityIan D. Krantz - University of Pennsylvania
- Publication Details
- Genetics in medicine, v 18(11), pp 1075-1084
- Publisher
- Elsevier
- Resource Type
- Journal article
- Language
- English
- Web of Science ID
- WOS:000386866000002
- Scopus ID
- 2-s2.0-84994165185
- Other Identifier
- 991019350586604721
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- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Genetics & Heredity