Evidence map›Paper›PMID 34415557›Full record

ArticleJournal of community genetics2021

Genetic counselling as a route to enhanced autonomy: using a sequential mixed methods research approach to develop a theory regarding presymptomatic genetic testing for young adults at risk of inherited cancer syndromes.

Lea Godino, Daniela Turchetti, Leigh Jackson, Catherine Hennessy, Heather Skirton

Open access · greenAbstract read
In one paragraph

Article in Journal of community genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.2field-weighted citation impact, top 39% 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

4 citing papers in PubMed, 2 citations in OpenAlex.

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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

5 authors at 3 institutions in 2 countries.

Lea GodinoDivision of Medical Genetics, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy. lea.godino@aosp.bo.it.ORCID http://orcid.org/0000-0002-3763-9372
Daniela TurchettiDivision of Medical Genetics, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.ORCID http://orcid.org/0000-0002-6792-3921
Leigh JacksonSchool of Nursing and Midwifery, Faculty of Health and Human Sciences, Plymouth University, Plymouth, UK.ORCID http://orcid.org/0000-0002-0260-5295
Catherine HennessyFaculty of Social Sciences, University of Stirling, Stirling, UK.ORCID http://orcid.org/0000-0002-3076-1375
Heather SkirtonSchool of Nursing and Midwifery, Faculty of Health and Human Sciences, Plymouth University, Plymouth, UK.ORCID http://orcid.org/0000-0002-3639-5265
Azienda USL di Bologna · ITUniversity of Plymouth · GBUniversity of Stirling · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Undertaking presymptomatic or predictive genetic testing should involve a considered choice. Decisions regarding genetic testing for young adults have to be considered within the context of their key life stage, which may involve developing a career, forming partnerships and/or becoming parents. The aim of this study was to develop a theoretical model regarding the factors involved when young adults (18-30 years) undergo presymptomatic genetic testing for inherited cancer syndromes. The model evolved from synthesis of results of a sequential mixed methods study involving a systematic review, a qualitative study and a quantitative study. The resulting model shows that young adults at risk of inherited cancer syndromes are influenced by others to have testing and come to counselling with their decision already made. However, genetic counselling enhances their feelings of autonomy and integration of their genetic status into their lives. Our theoretical model could be a valid support during the genetic counselling process for young adults and their parents, as it may sensitise professionals to the specific needs of this population, including education and support to autonomous decision-making. Counselling approaches should be modified in this population: an inclusive, multi-step counselling process is needed, with timing and setting set according to the specific features of this sensitive population.

Indexed as

Decision-makingGenetic counsellingPredictive genetic testingPresymptomatic genetic testingTheoryYoung adults

Identifiers

PMID34415557
PMCPMC8554898
OpenAlexW3194354157

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.