Evidence map›Paper›PMID 36921235›Full record

Trial reportJCO oncology practice2023

Cascade Genetic Risk Education and Testing in Families With Hereditary Cancer Syndromes: A Pilot Study.

Steven J Katz, Paul Abrahamse, Rachel Hodan, Allison W Kurian, Aaron Rankin, Rachel S Tocco, Sonia Rios-Ventura, Kevin C Ward, Lawrence C An

Abstract readRandomized Controlled Trial
PubMed Full text at PMC Publisher
In one paragraph

Trial report in JCO oncology practice, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. 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

9 authors.

Steven J KatzDepartment of Internal Medicine, University of Michigan, Ann Arbor, MI.ORCID 0000-0002-1151-861X
Paul AbrahamseDepartment of Internal Medicine, University of Michigan, Ann Arbor, MI.ORCID 0000-0001-7433-153X
Rachel HodanCancer Genetics, Stanford Health Care, Stanford, CA.ORCID 0000-0003-2887-4079
Allison W KurianDepartment of Medicine, Stanford University, Stanford, CA.ORCID 0000-0002-6175-9470
Aaron RankinDepartment of Internal Medicine, University of Michigan, Ann Arbor, MI.
Rachel S ToccoDepartment of Internal Medicine, University of Michigan, Ann Arbor, MI.ORCID 0000-0002-5297-3889
Sonia Rios-VenturaDepartment of Epidemiology and Population Health, Stanford University, Stanford, CA.ORCID 0000-0002-9033-9678
Kevin C WardDepartment of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA.ORCID 0000-0001-5893-6192
Lawrence C AnDepartment of Internal Medicine, University of Michigan, Ann Arbor, MI.ORCID 0000-0001-9861-1800

Funding

XenograftP30CA046592 · NCI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Eric R. Fearon · 1988 to 2026
$178.2M
A population-based virtual solution to reduce gaps in genetic risk evaluation and management in families at high risk for hereditary cancer syndromes: The Georgia-California GeneLINK TrialU01CA254822 · NCI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI AN, LAWRENCE CHIN-I, KATZ, STEVEN J. · 2020 to 2024
$3.7M
CDC HHSNCI NIH HHS HHSN261201800003CNCI NIH HHS P30 CA046592
6 · The paper itself

Abstract

purposeCascade genetic risk evaluation in families with hereditary cancer can reduce the burden of disease but the rate of germline genetic testing in relatives of patients at risk is low.

methodsWe identified all 277 women diagnosed with breast cancer in Georgia in 2017 who linked to a clinically actionable germline pathogenic variant through a Surveillance, Epidemiology, and End Results registry-variant linkage initiative. We surveyed them, and then invited eligible respondents to an online platform hosted by a navigator that offered cancer genetic risk education and germline genetic testing to untested relatives. We randomly assigned patient-family clusters at the time of the patient enrollment offer to free versus $50 (USD) test cost. Patients invited relatives to join the study through personalized e-mail. Enrolled relatives received online cancer genetic education and the opportunity to order clinical germline genetic testing through the platform. The primary outcome was the number of relatives who ordered genetic testing.

resultsOne hundred twenty-five of 277 patients completed surveys (45.2%). Most respondents were eligible for the trial offer (113 of 125; 90.4%). In the free testing arm, 20 of 56 eligible patients participated (35.7% of eligible respondents) and they invited 28 relatives: 12 relatives enrolled and 10 ordered testing. In the $50 (USD) arm, 16 of 57 eligible patients participated (28.1%) and they invited 38 relatives: 18 relatives enrolled and 17 ordered testing.

conclusionCascade genetic testing in families with hereditary cancer syndromes accrued through a population-based cancer registry can be achieved through an online platform that offers genetic risk education and low-cost testing to relatives. A modest charge did not appear to influence the percentage of participating patients, numbers of participating relatives, and numbers of relatives who received genetic testing.

Indexed as

Breast NeoplasmsNeoplastic Syndromes, HereditaryFemaleGenetic Predisposition to DiseaseGenetic TestingHumansPilot Projects

Identifiers

PMID36921235
PMCPMC10332838

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.