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European Journal of Human Genetics
Article . 2020 . Peer-reviewed
License: CC BY
Data sources: Crossref
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European Journal of Human Genetics
Article
License: CC BY
Data sources: UnpayWall
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PubMed Central
Other literature type . 2020
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Perceptions of genetic testing in patients with hereditary chronic pancreatitis and their families: a qualitative triangulation

Authors: Regina Müller; Ali A. Aghdassi; Judith Kruse; Markus M. Lerch; Peter Simon; Sabine Salloch;

Perceptions of genetic testing in patients with hereditary chronic pancreatitis and their families: a qualitative triangulation

Abstract

AbstractHereditary chronic pancreatitis (HCP) is a genetically determined condition characterized by intermittent acute episodes of pancreatitis and long-term impairment of the exocrine and endocrine pancreatic functions. Genetic test results can have substantial psychological and social consequences for the individuals tested and their families. Nevertheless, little is known so far about the subjective experience of individuals genetically tested for HCP. This qualitative study examines the viewpoints of HCP patients and their relatives in order to identify the psychosocial and ethical implications related to genetic testing within families. Semi-structured qualitative individual interviews and a focus group with HCP patients and their family members were conducted. Data were audio-recorded, transcribed verbatim and analysed using qualitative content analysis. A total of 28 individuals were enrolled in the study: 24 individuals (17 patients, 7 relatives) were interviewed in semi-structured one-on-one interviews and 4 individuals (2 patients, 2 life partners) participated in the focus group. Emerging topics covered (1) genetic testing in childhood, (2) genetic testing within the family and (3) family planning. The study reveals that genetic testing for HCP has a wide influence in familial contexts and is accompanied by normative issues, such as autonomy, reproductive decisions and sharing of information within the family. The results raise the awareness of the complexity of family contexts: familial relationships and dynamics can have great influence on the individual decisions related to genetic testing. Increased understanding of these relational contexts can help health professionals, for example, in counselling, to discuss genetic testing better with patients and families.

Country
Germany
Keywords

Adult, Aged, 80 and over, Male, Health Knowledge, Attitudes, Practice, Adolescent, Patients, Middle Aged, Adolescent [MeSH] ; Female [MeSH] ; Aged, 80 and over [MeSH] ; Aged [MeSH] ; Adult [MeSH] ; Humans [MeSH] ; Medical ethics ; Family/psychology [MeSH] ; Genetic Testing/ethics [MeSH] ; Middle Aged [MeSH] ; Health Knowledge, Attitudes, Practice [MeSH] ; Article ; Pancreatitis, Chronic/diagnosis [MeSH] ; Quality of life ; Ethics ; Health services ; Male [MeSH] ; Patients/psychology [MeSH] ; Psychology ; Pancreatitis, Chronic/genetics [MeSH] ; Pancreatitis, Chronic/psychology [MeSH] ; Netherlands [MeSH], Article, Pancreatitis, Chronic, Humans, Family, Female, Genetic Testing, Aged, Netherlands

  • BIP!
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    selected citations
    These citations are derived from selected sources.
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    6
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Top 10%
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Average
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Average
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
6
Top 10%
Average
Average
Green
hybrid