Evidence map›Paper›PMID 26173961›Full record

SynthesisEuropean journal of human genetics : EJHG2016

Impact of presymptomatic genetic testing on young adults: a systematic review.

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

Open access · bronzeAbstract readMeta-AnalysisSystematic Review
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
36citing papers in PubMed, 3 pooled it
3.5field-weighted citation impact, top 7% 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

36 citing papers in PubMed, 3 syntheses or guidelines pooled it, 73 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 GodinoUnit of Medical Genetics, Department of Medical and Surgical Sciences, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy.
Daniela TurchettiUnit of Medical Genetics, Department of Medical and Surgical Sciences, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy.
Leigh JacksonSchool of Nursing and Midwifery, Faculty of Health and Human Sciences, Plymouth University, Plymouth, UK.
Catherine HennessySchool of Nursing and Midwifery, Faculty of Health and Human Sciences, Plymouth University, Plymouth, UK.
Heather SkirtonSchool of Nursing and Midwifery, Faculty of Health and Human Sciences, Plymouth University, Plymouth, UK.
University of Plymouth · GBPoliclinico S.Orsola-Malpighi · ITUniversity of Bologna · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Presymptomatic and predictive genetic testing should involve a considered choice, which is particularly true when testing is undertaken in early adulthood. Young adults are at a key life stage as they may be developing a career, forming partnerships and potentially becoming parents: presymptomatic testing may affect many facets of their future lives. The aim of this integrative systematic review was to assess factors that influence young adults' or adolescents' choices to have a presymptomatic genetic test and the emotional impact of those choices. Peer-reviewed papers published between January 1993 and December 2014 were searched using eight databases. Of 3373 studies identified, 29 were reviewed in full text: 11 met the inclusion criteria. Thematic analysis was used to identify five major themes: period before testing, experience of genetic counselling, parental involvement in decision-making, impact of test result communication, and living with genetic risk. Many participants grew up with little or no information concerning their genetic risk. The experience of genetic counselling was either reported as an opportunity for discussing problems or associated with feelings of disempowerment. Emotional outcomes of disclosure did not directly correlate with test results: some mutation carriers were relieved to know their status, however, the knowledge they may have passed on the mutation to their children was a common concern. Parents appeared to have exerted pressure on their children during the decision-making process about testing and risk reduction surgery. Health professionals should take into account all these issues to effectively assist young adults in making decisions about presymptomatic genetic testing.

Indexed as

AdolescentAsymptomatic DiseasesAttitude to HealthEmotionsGenetic CounselingGenetic Diseases, InbornGenetic Predisposition to DiseaseGenetic TestingHumansPatient Education as TopicYoung Adult

Identifiers

PMID26173961
PMCPMC4929872
OpenAlexW1549571271

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.