Evidence map›Paper›PMID 30901547›Full record

ReviewCell2019

Genomic Medicine-Progress, Pitfalls, and Promise.

Jay Shendure, Gregory M Findlay, Matthew W Snyder

Open access · bronzeAbstract readReview
In one paragraph

Review in Cell, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 115 papers.

0numbers the graph read from it
0cells of the map it votes in
115citing papers in PubMed
24.9field-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

115 citing papers in PubMed, 265 citations in OpenAlex.

  1. Trial
  2. Review
  3. Genetic Diagnosis in Epilepsy: Implications for Clinical Management.Current neurology and neuroscience reports · 2026
    Review
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Genomics in Health and Biomedicine.Advances in experimental medicine and biology · 2026
    Review
  15. Review
  16. Article
  17. Review
  18. Article
  19. Review
  20. Materiobiology in the omics era.Materials today. Bio · 2025
    Review

55 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

3 authors at 1 institution in 1 country.

Jay ShendureDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA. Electronic address: shendure@uw.edu.
Gregory M FindlayDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Matthew W SnyderDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
University of Washington · US

Funding

University of Washington Medical Scientist Training Program: MD/PhDT32GM007266 · NIGMS · UNIVERSITY OF WASHINGTON · PI HORWITZ, MARSHALL S. · 1985 to 2023
$30.4M
Interpreting Genetic Variants of Uncertain SignificanceDP1HG007811 · NHGRI · UNIVERSITY OF WASHINGTON · PI SHENDURE, JAY ASHOK · 2013 to 2017
$3.8M
Genome editing to determine functional consequences of thousands of potentially pathogenic variantsF30CA213728 · NCI · UNIVERSITY OF WASHINGTON · PI FINDLAY, GREGORY · 2017 to 2020
$130k
Howard Hughes Medical InstituteNCI NIH HHS F30 CA213728NHGRI NIH HHS DP1 HG007811NIGMS NIH HHS T32 GM007266
6 · The paper itself

Abstract

In the wake of the Human Genome Project (HGP), strong expectations were set for the timeline and impact of genomics on medicine-an anticipated transformation in the diagnosis, treatment, and prevention of disease. In this Perspective, we take stock of the nascent field of genomic medicine. In what areas, if any, is genomics delivering on this promise, or is the path to success clear? Where are we falling short, and why? What have been the unanticipated developments? Overall, we argue that the optimism surrounding the transformational potential of genomics on medicine remains justified, albeit with a considerably different form and timescale than originally projected. We also argue that the field needs to pivot back to basics, as understanding the entirety of the genotype-to-phenotype equation is a likely prerequisite for delivering on the full potential of the human genome to advance the human condition.

Indexed as

Genetic TestingGenome, HumanGenomicsHuman Genome ProjectHumansPrecision Medicine

Identifiers

PMID30901547
PMCPMC6531313
OpenAlexW2924489771

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.