Evidence map›Paper›PMID 35277654›Full record

ArticleEuropean journal of human genetics : EJHG2022

Preferences for return of germline genome sequencing results for cancer patients and their genetic relatives in a research setting.

Megan C Best, Phyllis Butow, Jacqueline Savard, Chris Jacobs, Nicole Bartley, Grace Davies, Christine E Napier, Mandy L Ballinger, David M Thomas, Barbara Biesecker and 5 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
1.7field-weighted citation impact, top 16% 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

6 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Review
  4. Article
  5. What's new in genetics in June 2022?European journal of human genetics : EJHG · 2022
    Article
  6. Review
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

15 authors at 6 institutions in 2 countries.

Megan C BestFaculty of Science, University of Sydney, Sydney, NSW, Australia. megan.best@nd.edu.au.ORCID http://orcid.org/0000-0003-1570-8872
Phyllis ButowFaculty of Science, University of Sydney, Sydney, NSW, Australia.ORCID http://orcid.org/0000-0003-3562-6954
Jacqueline SavardSchool of Medicine, Deakin University, Geelong, VIC, Australia.ORCID http://orcid.org/0000-0002-7965-6103
Chris JacobsGraduate School of Health, University of Technology, Sydney, NSW, Australia.ORCID http://orcid.org/0000-0002-9557-9080
Nicole BartleyFaculty of Science, University of Sydney, Sydney, NSW, Australia.ORCID http://orcid.org/0000-0001-9052-1616
Grace DaviesFaculty of Science, University of Sydney, Sydney, NSW, Australia.ORCID http://orcid.org/0000-0001-7867-3780
Christine E NapierCancer Division, Garvan Institute of Medical Research, Sydney, NSW, Australia.ORCID http://orcid.org/0000-0001-8009-7735
Mandy L BallingerCancer Division, Garvan Institute of Medical Research, Sydney, NSW, Australia.
David M ThomasCancer Division, Garvan Institute of Medical Research, Sydney, NSW, Australia.ORCID http://orcid.org/0000-0002-2527-5428
Barbara BieseckerTriangle Institute, Washington, DC, USA.ORCID http://orcid.org/0000-0001-9665-8963
Katherine M TuckerHereditary Cancer Centre, Prince of Wales Hospital, Sydney, NSW, Australia.
Ilona JuraskovaFaculty of Science, University of Sydney, Sydney, NSW, Australia.
Bettina MeiserPsychosocial Research Group, University of NSW, Sydney, NSW, Australia.ORCID http://orcid.org/0000-0002-5086-0784
Timothy SchlubFaculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.ORCID http://orcid.org/0000-0001-7746-9649
Ainsley J NewsonFaculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.ORCID http://orcid.org/0000-0002-3460-772X
The University of Sydney · AUGarvan Institute of Medical Research · AUDeakin University · AUPrince of Wales Hospital · AURTI International · USUniversity of Technology Sydney · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Germline genome sequencing (GS) holds great promise for cancer prevention by identifying cancer risk and guiding prevention strategies, however research evidence is mixed regarding patient preferences for receiving GS results. The aim of this study was to discern preferences for return of results by cancer patients who have actually undergone GS. We conducted a mixed methods study with a cohort of cancer probands (n = 335) and their genetic relatives (n = 199) undergoing GS in a research setting. Both groups completed surveys when giving consent. A subset of participants (n = 40) completed semi-structured interviews. A significantly higher percentage of probands thought people would like to be informed about genetic conditions for which there is prevention or treatment that can change cancer risk compared to conditions for which there is no prevention or treatment (93% [311] versus 65% [216]; p < 0.001). Similar results were obtained for relatives (91% [180] versus 61% [121]; p < 0.001). Themes identified in the analysis of interviews were: (1) Recognised benefits of GS, (2) Balancing benefits with risks, (3) Uncertain results are perceived as unhelpful and (4) Competing obligations. While utility was an important discriminator in what was seen as valuable for this cohort, there was a variety of responses. In view of varied participant preferences regarding return of results, it is important to ensure patient understanding of test validity and identify individual choices at the time of consent to GS. The nature and value of the information, and a contextual understanding of researcher obligations should guide result return.

Indexed as

NeoplasmsBase SequenceGerm CellsHumansPatient PreferenceSurveys and Questionnaires

Identifiers

PMID35277654
PMCPMC9349221
OpenAlexW4220661260

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.