Evidence map›Paper›PMID 36253533›Full record

SynthesisEuropean journal of human genetics : EJHG2023

Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review.

Alison Luk Young, Aalya Imran, Michael J Spoelma, Rachel Williams, Katherine M Tucker, Jane Halliday, Laura E Forrest, Claire E Wakefield, Phyllis N Butow

Open access · hybridAbstract readSystematic Review
In one paragraph

Synthesis in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
5.0field-weighted citation impact, top 4% 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

11 citing papers in PubMed, 27 citations in OpenAlex.

  1. Trial
  2. Trial
  3. Review
  4. Article
  5. Article
  6. Family genetic risk communication and reverse cascade testing in the BabySeq project.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
    Article
  7. Review
  8. 2023 in the European Journal of Human Genetics.European journal of human genetics : EJHG · 2024
    Article
  9. Article
  10. Article
  11. New year, new genes.European journal of human genetics : EJHG · 2023
    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 at 5 institutions in 1 country.

Alison Luk YoungSchool of Medicine and Public Health, The University of Newcastle, Callaghan, NSW, Australia. alison.young@newcastle.edu.au.ORCID 0000-0002-0810-4256
Aalya ImranDivision of Obstetrics and Gynaecology, Royal North Shore Hospital, Sydney, NSW, Australia.
Michael J SpoelmaDiscipline of Psychiatry and Mental Health, School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia.
Rachel WilliamsPrince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Randwick, NSW, Australia.
Katherine M TuckerPrince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Randwick, NSW, Australia.ORCID 0000-0002-7180-6576
Jane HallidayMurdoch Children's Research Institute, Parkville, VIC, Australia.
Laura E ForrestParkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.ORCID 0000-0002-1126-4971
Claire E WakefieldSchool of Women's and Children's Health, Faculty of Medicine and Health, UNSW, Sydney, NSW, Australia.ORCID 0000-0001-7704-7067
Phyllis N ButowSchool of Psychology, The University of Sydney, Sydney, NSW, Australia.ORCID 0000-0003-3562-6954
UNSW Sydney · AUThe University of Melbourne · AURoyal North Shore Hospital · AUThe University of Sydney · AUUniversity of Newcastle Australia · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Interventions to assist family communication about inherited cancer risk have the potential to improve family cancer outcomes. This review aimed to evaluate the efficacy of proband-mediated interventions employed within genetics clinics to increase disclosure of genetic risk to at-risk relatives. MEDLINE, Embase, CINAHL, PubMed and PsycINFO were searched for publications between 1990-2020. The quality of studies was assessed. From 5605 records reviewed, 9 studies (4 randomised control trials and 5 cohort studies) were included involving families with BRCA1, BRCA2 and Lynch syndrome. Intervention delivery modes included genetic counselling with additional telephone or in-person follow-up, letters, videos, and decision aids. The percentages of at-risk relatives informed by the proband about their risk ranged from 54.0% to 95.5% in the intervention or family-mediated comparison group. Of those who were informed, 24.4-60.0% contacted a genetics clinic and 22.8-76.2% had genetic testing after they were counselled at a genetics clinic. Significant differences between intervention and control group were reported on all three outcomes by one study, and with relatives contacting a genetics clinic by another study. The studies suggest but do not conclusively show, that tailored genetic counselling with additional follow-up can increase both the proportion of informed relatives and relatives who contact the genetics clinic. With the increase in germline testing, interventions are required to consider the family communication process and address post-disclosure variables (e.g., relative's perceptions, emotional reactions) through engagement with probands and relatives to maximise the public health benefit of identifying inherited cancer risk in families.

Indexed as

Colorectal Neoplasms, Hereditary NonpolyposisDisclosureFamilyGenetic CounselingGenetic TestingHumans

Identifiers

PMID36253533
PMCPMC9822896
OpenAlexW4306377356

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.