Evidence map›Paper›PMID 19936793›Full record

ArticleHuman genetics2010

Evaluation of genetic tests for susceptibility to common complex diseases: why, when and how?

Caroline Fiona Wright, Mark Kroese

Abstract read
PubMed Publisher
In one paragraph

Article in Human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 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

15 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. How is genetic testing evaluated? A systematic review of the literature.European journal of human genetics : EJHG · 2018
    Pooled it
  2. Perception of genomic newborn screening among peripartum mothers.European journal of human genetics : EJHG · 2024
    Article
  3. Review
  4. Review
  5. Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. Personalized medicine in cardiovascular diseases.Korean circulation journal · 2012
    Article
  11. Article
  12. Review
  13. Article
  14. Genetic evidence linking lung cancer and COPD: a new perspective.The application of clinical genetics · 2011
    Article
  15. 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

2 authors.

Caroline Fiona WrightPHG Foundation, 2 Worts Causeway, Cambridge CB1 8RN, UK. caroline.wright@phgfoundation.org
Mark Kroese

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Recent research into the human genome has generated a wealth of scientific knowledge and increased both public and professional interest in the concept of personalised medicine. Somewhat unexpectedly, in addition to increasing our understanding about the genetic basis for numerous diseases, these new discoveries have also spawned a burgeoning new industry of 'consumer genetic testing'. In this paper, we present the principles learnt though the evaluation of tests for single gene disorders and suggest a comparable framework for the evaluation of genetic tests for susceptibility to common complex diseases. Both physicians and the general public will need to be able to assess the claims made by providers of genetic testing services, and ultimately policy-makers will need to decide if and when such tests should be offered through state funded healthcare systems.

Indexed as

Genetic Predisposition to DiseaseGenetic PrivacyGenetic TestingGovernment RegulationHumansInformed ConsentPhysician-Patient RelationsUnited KingdomUnited States

Identifiers

What OpenQuestion holds

Textmetadata
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.