Evidence map›Paper›PMID 24628824›Full record

Trial reportBMC medical genetics2014

Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention.

Jan M Hodgson, Sylvia A Metcalfe, Maryanne Aitken, Susan M Donath, Clara L Gaff, Ingrid M Winship, Martin B Delatycki, Loane L C Skene, Belinda J McClaren, Jean L Paul and 1 more

Abstract readMulticenter StudyRandomized Controlled Trial
In one paragraph

Trial report in BMC medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 2 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

22 citing papers in PubMed, 2 syntheses or guidelines pooled it.

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  16. Caregiver burden and the medical ethos.Medicine, health care, and philosophy · 2017
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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

11 authors.

Jan M HodgsonDepartment of Paediatrics, University of Melbourne, Melbourne, Australia. jan.hodgson@mcri.edu.au.
Sylvia A Metcalfe
Maryanne Aitken
Susan M Donath
Clara L Gaff
Ingrid M Winship
Martin B Delatycki
Loane L C Skene
Belinda J McClaren
Jean L Paul
Jane L Halliday

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGenetic information given to an individual newly diagnosed with a genetic condition is likely to have important health implications for other family members. The task of communicating with these relatives commonly falls to the newly diagnosed person. Talking to relatives about genetic information can be challenging and is influenced by many factors including family dynamics. Research shows that many relatives remain unaware of relevant genetic information and the possible impact on their own health. This study aims to evaluate whether a specific genetic counselling intervention for people newly diagnosed with a genetic condition, implemented over the telephone on a number of occasions, could increase the number of at-risk relatives who make contact with genetics services after a new genetic diagnosis within a family.

methodsThis is a prospective, multi-centre randomised controlled trial being conducted at genetics clinics at five public hospitals in Victoria, Australia. A complex genetic counselling intervention has been developed specifically for this trial. Probands (the first person in a family to present with a diagnosis of a genetic condition) are being recruited and randomised into one of two arms - the telephone genetic counselling intervention arm and the control arm receiving usual care. The number of at-risk relatives for each proband will be estimated from a family pedigree collected at the time of diagnosis. The primary outcome will be measured by comparing the proportion of at-risk relatives in each arm of the trial who make subsequent contact with genetics services. DISCUSSION: This study, the first randomised controlled trial of a complex genetic counselling intervention to enhance family communication, will provide evidence about how best to assist probands to communicate important new genetic information to their at-risk relatives. This will inform genetic counselling practice in the context of future genomic testing.

trial registrationAustralia and New Zealand Clinical Trials Register (ANZCTR): ANZCTRN12608000642381.

Indexed as

Genetic CounselingTruth DisclosureFamily RelationsGenetic TestingHumansInterpersonal RelationsMolecular Diagnostic Techniques

Identifiers

PMID24628824
PMCPMC3995589

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Registered trials

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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.