Evidence map›Paper›PMID 27171546›Full record

ReviewGenetics in medicine : official journal of the American College of Medical Genetics2016

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 and 35 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
86citing papers in PubMed, 3 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

86 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. CYP2D6 genotype and associated 5-HTClinical and translational science · 2025
    Pooled it
  2. Pooled it
  3. Delivering genomic medicine in the United Kingdom National Health Service: a systematic review and narrative synthesis.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
    Pooled it
  4. Article
  5. Article
  6. Evaluation of the Integration of Genetics and Genomics Into Nursing Practice.Journal of nursing scholarship : an official publication of Sigma Theta Tau International Honor Society of Nursing · 2026
    Article
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26 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

45 authors.

Sarah BowdinCentre for Genetic Medicine, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Ontario, Canada.ORCID 0000-0001-8477-2670
Adel GilbertCentre for Genetic Medicine, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Ontario, Canada.ORCID 0000-0002-0612-8895
Emma BedoukianIndividualized Medical Genetics Center, Division of Human Genetics, Department of Pediatrics, the Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID 0000-0003-3064-2488
Christopher CarewCentre for Genetic Medicine, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Ontario, Canada.ORCID 0000-0002-9257-5762
Margaret P AdamDivision of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, Washington, USA.ORCID 0000-0001-9817-5121
John BelmontDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Barbara BernhardtDivision of Translational Medicine and Human Genetics, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.ORCID 0000-0002-9096-8765
Leslie BieseckerMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0002-0197-3811
Hans T BjornssonMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.ORCID 0000-0001-6635-6753
Miriam BlitzerDivision of Human Genetics, Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland, USA.
Lisa C A D'AlessandroDivision of Cardiology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Ontario, Canada.
Matthew A DeardorffIndividualized Medical Genetics Center, Division of Human Genetics, Department of Pediatrics, the Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Laurie DemmerDepartment of Pediatrics, Carolinas Medical Center, Charlotte, North Carolina, USA.ORCID 0000-0002-6488-8307
Alison ElliottDepartment of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.ORCID 0000-0002-9896-1314
Gerald L FeldmanCenter for Molecular Medicine and Genetics and Department of Pediatrics and Pathology, Wayne State University School of Medicine, Detroit, Michigan, USA.
Ian A GlassDivision of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, Washington, USA.
Gail HermanCenter for Molecular and Human Genetics, Nationwide Children's Hospital, The Ohio State University, Columbus, Ohio, USA.
Lucia HindorffDivision of Genomic Medicine, National Human Genome Research Institute, National institutes of Health, Bethesda, Maryland, USA.
Fuki HisamaDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA.
Louanne HudginsDivision of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.
A Micheil InnesDepartment of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Laird JacksonDepartment of Obstetrics and Gynecology, Drexel University College of Medicine, Philadelphia, Pennsylvania, USA.
Gail JarvikDivision of Genomic Medicine, National Human Genome Research Institute, National institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0002-6710-8708
Raymond KimDepartment of Obstetrics and Gynecology, Drexel University College of Medicine, Philadelphia, Pennsylvania, USA.ORCID 0000-0002-2147-8674
Bruce KorfDepartment of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.ORCID 0000-0001-8272-339X
David H LedbetterGeisinger Health System, Danville, Pennsylvania, USA.ORCID 0000-0001-8934-4210
Mindy LiDivision of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Eriskay ListonDepartment of Obstetrics and Gynecology, Drexel University College of Medicine, Philadelphia, Pennsylvania, USA.
Christian MarshallGenome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Livija MedneDivision of Clinical and Metabolic Genetics, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Ontario, Canada.
M Stephen MeynCentre for Genetic Medicine, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Ontario, Canada.
Nasim MonfaredDepartment of Obstetrics and Gynecology, Drexel University College of Medicine, Philadelphia, Pennsylvania, USA.ORCID 0000-0002-6623-1130
Cynthia MortonDepartment of Obstetrics, Gynecology and Reproductive Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0003-2198-6756
John J MulvihillDepartment of Pediatrics, University of Oklahoma, Oklahoma City, Oklahoma, USA.
Sharon E PlonDepartment of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.ORCID 0000-0002-9626-0936
Heidi RehmDepartment of Obstetrics, Gynecology and Reproductive Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Amy RobertsDepartment of Cardiology and Division of Genetics, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Cheryl ShumanCentre for Genetic Medicine, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Ontario, Canada.
Nancy B SpinnerDivision of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.ORCID 0000-0001-8109-3648
D James StavropoulosGenome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Kathleen ValverdeCollege of Health Sciences, Arcadia University, Glenside, Pennsylvania, USA.ORCID 0000-0001-6515-8982
Darrel J WaggonerDepartment of Human Genetics, University of Chicago, Chicago, Illinois, USA.
Alisha WilkensIndividualized Medical Genetics Center, Division of Human Genetics, Department of Pediatrics, the Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Ronald D CohnCentre for Genetic Medicine, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Ontario, Canada.
Ian D KrantzIndividualized Medical Genetics Center, Division of Human Genetics, Department of Pediatrics, the Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Funding

Genomic Ascertainment - Clinical and Behavioral AspectsZIAHG200387 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BIESECKER, LESLIE · 2013 to 2025
$15.5M
Variation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4M
Applying Genomic Sequencing in PediatricsU01HG006546 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI KRANTZ, IAN D. · 2012 to 2016
$10.6M
Exploring Kabuki Syndrome as a Treatable Cause of Intellectual DisabilityDP5OD017877 · OD · JOHNS HOPKINS UNIVERSITY · PI BJORNSSON, HANS TOMAS · 2013 to 2017
$2.0M
NHGRI NIH HHS U01 HG006546NHGRI NIH HHS U01 HG008657NIH HHS DP5 OD017877
6 · The paper itself

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.

Indexed as

GenomicsExomeGenetic CounselingGenetics, MedicalGenome, HumanHigh-Throughput Nucleotide SequencingHumans

Identifiers

PMID27171546
PMCPMC5557020

What OpenQuestion holds

Textmetadata
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Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.