Evidence map›Paper›PMID 23669308›Full record

SynthesisClinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association2013

Uptake of genetic testing by relatives of lynch syndrome probands: a systematic review.

Ravi N Sharaf, Parvathi Myer, Christopher D Stave, Lisa C Diamond, Uri Ladabaum

Registry-linked trialAbstract readSystematic Review
In one paragraph

Synthesis in Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04533555 (Randomized Trial of Universal vs. Guideline-directed Germline Testing Among Young Adults With Cancer), which is not on this map. Cited by 89 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
89citing papers in PubMed, 4 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.

NCT04533555 nacompletednot on this mapstarted 2020, after this paper: background citation

Randomized Trial of Universal vs. Guideline-directed Germline Testing Among Young Adults With Cancer

TypeinterventionalSponsorUniversity of PennsylvaniaRan2020 to 2025Enrolled749ConditionsCancerArmsBroad gene panel for young adult cancers, Standard
3 · Its place in the literature

Who cites it

89 citing papers in PubMed, 4 syntheses or guidelines pooled it.

  1. Cascade Testing for Hereditary Cancer Syndromes: Should We Move Toward Direct Relative Contact? A Systematic Review and Meta-Analysis.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022
    Pooled it
  2. Pooled it
  3. A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
    Pooled it
  4. Which Lynch syndrome screening programs could be implemented in the "real world"? A systematic review of economic evaluations.Genetics in medicine : official journal of the American College of Medical Genetics · 2018
    Pooled it
  5. Effectiveness of theCirculation · 2023
    Trial
  6. Trial
  7. Facilitated cascade testing (FaCT): a randomized controlled trial.International journal of gynecological cancer : official journal of the International Gynecological Cancer Society · 2021
    Trial
  8. Observational
  9. Article
  10. Article
  11. Cost-effectiveness of Lynch Syndrome Screening in Colorectal Cancer: Universal Germline vs Sequential Screening.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2025
    Article
  12. Cost-Effectiveness of Lynch Syndrome Identification Strategies in Individuals With Colorectal Cancer and the Impact on At-Risk Relatives.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2025
    Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article

29 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

5 authors.

Ravi N SharafDivision of Gastroenterology and Hepatology, Department of Medicine, Stanford University School of Medicine, Stanford, California, USA. rsharaf@nshs.edu
Parvathi Myer
Christopher D Stave
Lisa C Diamond
Uri Ladabaum

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
TRAINING GRANT IN ACADEMIC GASTROENTEROLOGYT32DK007056 · NIDDK · STANFORD UNIVERSITY · PI Natalie J. Torok · 1986 to 2026
$6.5M
NCI NIH HHS P30 CA008748NIDDK NIH HHS DK007056NIDDK NIH HHS T32 DK007056
6 · The paper itself

Abstract

BACKGROUND &

aimsScreening of persons with newly diagnosed colorectal cancer for Lynch syndrome can yield substantial benefits at acceptable costs, presuming sufficient uptake of genetic testing by first-degree relatives of Lynch syndrome probands. We performed a systematic review of the literature to determine the frequency of and factors associated with genetic testing of first-degree relatives of Lynch syndrome probands.

methodsWe searched 4 databases (CINAHL, PsycInfo, PUBMED, and SCOPUS) for articles published through May 2011 reporting uptake of genetic testing by relatives of Lynch syndrome probands. Two investigators independently screened articles to determine whether they met inclusion criteria; data were collected on study population, genetic counseling, and genetic testing. A narrative, qualitative systematic review was performed.

resultsWe identified 1258 potentially relevant articles; 533 underwent full-text review, and 8 were included in the final analysis. Of first-degree relatives of Lynch syndrome probands, 52% or less received genetic testing. For each proband, 3.6 or fewer relatives underwent genetic testing. Demographic factors (age <50 years, female sex, parenthood, level of education, employment, participation in medical studies), psychological factors (lack of depressive symptoms), and possibly family history (greater number of relatives with cancer) were associated with uptake of genetic testing.

conclusionsGenetic testing appears to be underutilized by first-degree relatives of patients with Lynch syndrome. The clinical benefit and economic feasibility of screening persons with colorectal cancer for Lynch syndrome depend on optimizing family-wide uptake of genetic testing. Future research and clinical efforts should focus on ways to overcome barriers to genetic testing.

Indexed as

Colorectal Neoplasms, Hereditary NonpolyposisFamilyGenetic TestingHumansPatient Acceptance of Health CareCIcolorectal cancerColorectal Cancerconfidence intervalCRCFDRfirst-degree relativeFirst-degree RelativesGenetic Information Nondiscrimination ActGenetic TestingGINALSLynch syndromeLynch SyndromeNewcastle–Ottawa ScaleNOSodds ratioORSecond-degree Relative

Identifiers

PMID23669308
PMCPMC12685307

What OpenQuestion holds

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Read underepoch 390

Registered trials

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.