Evidence map›Paper›PMID 19617843›Full record

GuidelineGenetics in medicine : official journal of the American College of Medical Genetics2009

The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop.

Muin J Khoury, Colleen M McBride, Sheri D Schully, John P A Ioannidis, W Gregory Feero, A Cecile J W Janssens, Marta Gwinn, Denise G Simons-Morton, Jay M Bernhardt, Michele Cargill and 33 more

Open access · bronzeAbstract readConsensus Development Conference, NIHGuideline
In one paragraph

Guideline in Genetics in medicine : official journal of the American College of Medical Genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
92citing papers in PubMed, 3 pooled it
21.5field-weighted citation impact, top 1% of its field
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

92 citing papers in PubMed, 3 syntheses or guidelines pooled it, 197 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Clinical decision support for genetically guided personalized medicine: a systematic review.Journal of the American Medical Informatics Association : JAMIA
    Pooled it
  4. Trial
  5. Trial
  6. Trial
  7. Trial
  8. Article
  9. Observational
  10. Development and validation of a genetic probability for venous thromboembolism.Research and practice in thrombosis and haemostasis · 2025
    Article
  11. Article
  12. Article
  13. The attitude of young people in the city of Yakutsk to DNA-testing.International journal of circumpolar health · 2021
    Article
  14. How Can Law and Policy Advance Quality in Genomic Analysis and Interpretation for Clinical Care?The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2020
    Article
  15. Article
  16. From public health genomics to precision public health: a 20-year journey.Genetics in medicine : official journal of the American College of Medical Genetics · 2018
    Review
  17. Article
  18. U.S. Physician-Scientist Workforce in the 21st Century: Recommendations to Attract and Sustain the Pipeline.Academic medicine : journal of the Association of American Medical Colleges · 2018
    Article
  19. Article
  20. Article

32 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

43 authors at 20 institutions in 6 countries.

Muin J KhouryOffice of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA. mkhoury@cdc.gov
Colleen M McBride
Sheri D Schully
John P A Ioannidis
W Gregory Feero
A Cecile J W Janssens
Marta Gwinn
Denise G Simons-Morton
Jay M Bernhardt
Michele Cargill
Stephen J Chanock
George M Church
Ralph J Coates
Francis S Collins
Robert T Croyle
Barry R Davis
Gregory J Downing
Amy Duross
Susan Friedman
Mitchell H Gail
Geoffrey S Ginsburg
Robert C Green
Mark H Greene
Philip Greenland
Jeffrey R Gulcher
Andro Hsu
Kathy L Hudson
Sharon L R Kardia
Paul L Kimmel
Michael S Lauer
Amy M Miller
Kenneth Offit
David F Ransohoff
J Scott Roberts
Rebekah S Rasooly
Kari Stefansson
Sharon F Terry
Steven M Teutsch
Angela Trepanier
Kay L Wanke
John S Witte
Jianfeng Xu
Centers for Disease Control and Prevention
National Institutes of Health · USCenters for Disease Control and Prevention · USdeCODE Genetics (Iceland) · ISNavigen (United States) · USOffice of Public Health Genomics · USBoston University · USDuke University · USErasmus MC · NLFacing Our Risk of Cancer Empowered · USGenetic Alliance · USHarvard University · USJohns Hopkins University · USLos Angeles County Department of Public Health · USMemorial Sloan Kettering Cancer Center · USMichigan Department of Health and Human Services · USMountain View College · USNorthwestern University · USThe University of Texas Health Science Center at Houston · USTufts University · USUnited States Department of Health and Human Services · US

Funding

Genetic analysis of type II diabetes in Finnish populationZIAHG000024 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI ERDOS, MICHAEL · 2009 to 2025
$38.2M
Neuropathology CoreP30AG013846 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI KOWALL, NEIL W. · 1996 to 2020
$29.1M
YOGA INDUCED CHANGES IN BRAIN GABA LEVELSM01RR000533 · NCRR · BOSTON UNIVERSITY MEDICAL CAMPUS · PI HOLICK, MICHAEL F. · 1985 to 2008
$19.4M
Risk Evaluation and Education for Alzheimer's Disease (REVEAL IV)R01HG002213 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C. · 1999 to 2012
$7.6M
Multiplex InitiativeZIAHG200344 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI MC BRIDE, COLLEEN M · 2009 to 2013
$3.9M
Impact of Direct to Consumer Genetic TestingR01HG005092 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C., ROBERTS, SCOTT · 2010 to 2012
$1.1M
Characterizing Communicating Genetic Risk Alzheimer'sK24AG027841 · NIA · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C. · 2006 to 2010
$914k
NCRR NIH HHS M01 RR000533NHGRI NIH HHS R01 HG002213NHGRI NIH HHS R01 HG005092NIA NIH HHS K24 AG027841NIA NIH HHS P30 AG013846
6 · The paper itself

Abstract

The increasing availability of personal genomic tests has led to discussions about the validity and utility of such tests and the balance of benefits and harms. A multidisciplinary workshop was convened by the National Institutes of Health and the Centers for Disease Control and Prevention to review the scientific foundation for using personal genomics in risk assessment and disease prevention and to develop recommendations for targeted research. The clinical validity and utility of personal genomics is a moving target with rapidly developing discoveries but little translation research to close the gap between discoveries and health impact. Workshop participants made recommendations in five domains: (1) developing and applying scientific standards for assessing personal genomic tests; (2) developing and applying a multidisciplinary research agenda, including observational studies and clinical trials to fill knowledge gaps in clinical validity and utility; (3) enhancing credible knowledge synthesis and information dissemination to clinicians and consumers; (4) linking scientific findings to evidence-based recommendations for use of personal genomics; and (5) assessing how the concept of personal utility can affect health benefits, costs, and risks by developing appropriate metrics for evaluation. To fulfill the promise of personal genomics, a rigorous multidisciplinary research agenda is needed.

Indexed as

GenomicsHumansInformation DisseminationNational Institutes of Health (U.S.)Personal Health ServicesUnited States

Identifiers

PMID19617843
PMCPMC2936269
OpenAlexW2137969322

What OpenQuestion holds

Textmetadata
LicenceTDM
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.