Evidence map›Paper›PMID 23806097›Full record

ArticleGenome medicine2013

Whole genome sequencing in support of wellness and health maintenance.

Chirag J Patel, Ambily Sivadas, Rubina Tabassum, Thanawadee Preeprem, Jing Zhao, Dalia Arafat, Rong Chen, Alexander A Morgan, Gregory S Martin, Kenneth L Brigham and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genome medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed
–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

27 citing papers in PubMed.

  1. Personalized genomic disease risk of volunteers.Proceedings of the National Academy of Sciences of the United States of America · 2013
    Trial
  2. Review
  3. Article
  4. Artificial Intelligence and Personalized Medicine.Cancer treatment and research · 2019
    Article
  5. Article
  6. Review
  7. Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults.Proceedings of the National Academy of Sciences of the United States of America · 2018
    Article
  8. Article
  9. Review
  10. Article
  11. Article
  12. Clinical Genomics: Challenges and Opportunities.Critical reviews in eukaryotic gene expression · 2016
    Review
  13. Article
  14. Article
  15. Review
  16. Article
  17. Summarizing polygenic risks for complex diseases in a clinical whole-genome report.Genetics in medicine : official journal of the American College of Medical Genetics · 2015
    Article
  18. Review
  19. Review
  20. Article
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

12 authors.

Chirag J PatelDivision of Systems Medicine, Department of Pediatrics, Stanford University School of Medicine, 251 Campus Drive, Palo Alto, CA 94304, USA ; Lucille Packard Children's Hospital, 725 Welch Rd, Palo Alto, CA 94304, USA.
Ambily SivadasSchool of Biology, Georgia Institute of Technology, 310 Ferst Drive, Atlanta GA 30332, USA.
Rubina TabassumSchool of Biology, Georgia Institute of Technology, 310 Ferst Drive, Atlanta GA 30332, USA.
Thanawadee PreepremSchool of Biology, Georgia Institute of Technology, 310 Ferst Drive, Atlanta GA 30332, USA.
Jing ZhaoSchool of Biology, Georgia Institute of Technology, 310 Ferst Drive, Atlanta GA 30332, USA.
Dalia ArafatSchool of Biology, Georgia Institute of Technology, 310 Ferst Drive, Atlanta GA 30332, USA.
Rong ChenDivision of Systems Medicine, Department of Pediatrics, Stanford University School of Medicine, 251 Campus Drive, Palo Alto, CA 94304, USA ; Lucille Packard Children's Hospital, 725 Welch Rd, Palo Alto, CA 94304, USA ; Personalis, Inc., 1350 Willow Rd Suite 202, Menlo Park, CA 94025, USA.
Alexander A MorganDivision of Systems Medicine, Department of Pediatrics, Stanford University School of Medicine, 251 Campus Drive, Palo Alto, CA 94304, USA ; Lucille Packard Children's Hospital, 725 Welch Rd, Palo Alto, CA 94304, USA.
Gregory S MartinCenter for Health Discovery and Well Being, and School of Medicine, Emory University Midtown Hospital, 550 Peachtree St, Atlanta GA 30308, USA.
Kenneth L BrighamCenter for Health Discovery and Well Being, and School of Medicine, Emory University Midtown Hospital, 550 Peachtree St, Atlanta GA 30308, USA.
Atul J ButteDivision of Systems Medicine, Department of Pediatrics, Stanford University School of Medicine, 251 Campus Drive, Palo Alto, CA 94304, USA ; Lucille Packard Children's Hospital, 725 Welch Rd, Palo Alto, CA 94304, USA.
Greg GibsonSchool of Biology, Georgia Institute of Technology, 310 Ferst Drive, Atlanta GA 30332, USA ; Center for Health Discovery and Well Being, and School of Medicine, Emory University Midtown Hospital, 550 Peachtree St, Atlanta GA 30308, USA.

Funding

POSTDOCTORAL TRAINING IN MEDICAL INFORMATION SCIENCEST15LM007033 · NLM · STANFORD UNIVERSITY · PI SYLVIA KATINA PLEVRITIS · 1985 to 2026
$25.5M
Statistical Methods for X-Chromosome Genetic DataP01GM099568 · NIGMS · UNIVERSITY OF WASHINGTON · PI WEIR, BRUCE S. · 2012 to 2016
$7.3M
NIGMS NIH HHS P01 GM099568NLM NIH HHS T15 LM007033
6 · The paper itself

Abstract

backgroundWhole genome sequencing is poised to revolutionize personalized medicine, providing the capacity to classify individuals into risk categories for a wide range of diseases. Here we begin to explore how whole genome sequencing (WGS) might be incorporated alongside traditional clinical evaluation as a part of preventive medicine. The present study illustrates novel approaches for integrating genotypic and clinical information for assessment of generalized health risks and to assist individuals in the promotion of wellness and maintenance of good health.

methodsWhole genome sequences and longitudinal clinical profiles are described for eight middle-aged Caucasian participants (four men and four women) from the Center for Health Discovery and Well Being (CHDWB) at Emory University in Atlanta. We report multivariate genotypic risk assessments derived from common variants reported by genome-wide association studies (GWAS), as well as clinical measures in the domains of immune, metabolic, cardiovascular, musculoskeletal, respiratory, and mental health.

resultsPolygenic risk is assessed for each participant for over 100 diseases and reported relative to baseline population prevalence. Two approaches for combining clinical and genetic profiles for the purposes of health assessment are then presented. First we propose conditioning individual disease risk assessments on observed clinical status for type 2 diabetes, coronary artery disease, hypertriglyceridemia and hypertension, and obesity. An approximate 2:1 ratio of concordance between genetic prediction and observed sub-clinical disease is observed. Subsequently, we show how more holistic combination of genetic, clinical and family history data can be achieved by visualizing risk in eight sub-classes of disease. Having identified where their profiles are broadly concordant or discordant, an individual can focus on individual clinical results or genotypes as they develop personalized health action plans in consultation with a health partner or coach.

conclusionThe CHDWB will facilitate longitudinal evaluation of wellness-focused medical care based on comprehensive self-knowledge of medical risks.

Indexed as

clinical profilinggenetic predictionpreventive medicinerisk assessment

Identifiers

PMID23806097
PMCPMC3967117

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.