Lay Perspectives on Receiving Different Types of Genomic Secondary Findings

a Qualitative Vignette Study

Marleena Vornanen, Katja Aktan-Collan, Nina Hallowell, Hanna Konttinen, Ari Haukkala

Tutkimustuotos: ArtikkelijulkaisuArtikkeliTieteellinenvertaisarvioitu

Kuvaus

Genome-wide sequencing may generate secondary findings (SFs). It is recommended that validated, clinically actionable SFs are reported back to patients/research participants. To explore publics’ perspectives on the best ways to do this, we performed a vignette study among Finnish adults. Our aim was to explore how lay people react to different types of hypothetical genomic SFs. Participants received a hypothetical letter revealing a SF predisposing to a severe but actionable disease - cardiovascular disease (familial hypercholesterolemia, long QT syndrome) or cancer (Lynch syndrome, Li–Fraumeni syndrome). Participants (N=29) wrote down their initial reactions, and discussed (N=23) these in focus groups. Data were analyzed using inductive thematic analysis.
Reactions to hypothetical SFs varied according to perceived severity and familiarity of the diseases. SFs for cancer were perceived as more threatening than for cardiovascular diseases, but less distressing than risk for psychiatric or neurological disorders, which participants spontaneously brought up. Illness severity in terms of lived experience, availability of treatment, stigma, and individual’s responsibility to control risk were perceived to vary across these disease types. In addition to clinical validity and utility, SF reporting practices need to take into account potential familiarity and lay illness representations of different diseases. Illness representations may influence willingness to receive SFs, and individuals’ reactions to this information.
Alkuperäiskielienglanti
LehtiJournal of Genetic Counseling
Vuosikerta28
Numero2
Sivut343-354
Sivumäärä12
ISSN1059-7700
DOI - pysyväislinkit
TilaJulkaistu - 2019
OKM-julkaisutyyppiA1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Lisätietoja

available at:

https://rdcu.be/4BhD

Tieteenalat

  • 3142 Kansanterveystiede, ympäristö ja työterveys
  • 5144 Sosiaalipsykologia

Lainaa tätä

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title = "Lay Perspectives on Receiving Different Types of Genomic Secondary Findings: a Qualitative Vignette Study",
abstract = "Genome-wide sequencing may generate secondary findings (SFs). It is recommended that validated, clinically actionable SFs are reported back to patients/research participants. To explore publics’ perspectives on the best ways to do this, we performed a vignette study among Finnish adults. Our aim was to explore how lay people react to different types of hypothetical genomic SFs. Participants received a hypothetical letter revealing a SF predisposing to a severe but actionable disease - cardiovascular disease (familial hypercholesterolemia, long QT syndrome) or cancer (Lynch syndrome, Li–Fraumeni syndrome). Participants (N=29) wrote down their initial reactions, and discussed (N=23) these in focus groups. Data were analyzed using inductive thematic analysis.Reactions to hypothetical SFs varied according to perceived severity and familiarity of the diseases. SFs for cancer were perceived as more threatening than for cardiovascular diseases, but less distressing than risk for psychiatric or neurological disorders, which participants spontaneously brought up. Illness severity in terms of lived experience, availability of treatment, stigma, and individual’s responsibility to control risk were perceived to vary across these disease types. In addition to clinical validity and utility, SF reporting practices need to take into account potential familiarity and lay illness representations of different diseases. Illness representations may influence willingness to receive SFs, and individuals’ reactions to this information.",
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author = "Marleena Vornanen and Katja Aktan-Collan and Nina Hallowell and Hanna Konttinen and Ari Haukkala",
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year = "2019",
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Lay Perspectives on Receiving Different Types of Genomic Secondary Findings : a Qualitative Vignette Study. / Vornanen, Marleena; Aktan-Collan, Katja; Hallowell, Nina; Konttinen, Hanna; Haukkala, Ari.

julkaisussa: Journal of Genetic Counseling, Vuosikerta 28 , Nro 2, 2019, s. 343-354.

Tutkimustuotos: ArtikkelijulkaisuArtikkeliTieteellinenvertaisarvioitu

TY - JOUR

T1 - Lay Perspectives on Receiving Different Types of Genomic Secondary Findings

T2 - a Qualitative Vignette Study

AU - Vornanen, Marleena

AU - Aktan-Collan, Katja

AU - Hallowell, Nina

AU - Konttinen, Hanna

AU - Haukkala, Ari

N1 - available at: https://rdcu.be/4BhD

PY - 2019

Y1 - 2019

N2 - Genome-wide sequencing may generate secondary findings (SFs). It is recommended that validated, clinically actionable SFs are reported back to patients/research participants. To explore publics’ perspectives on the best ways to do this, we performed a vignette study among Finnish adults. Our aim was to explore how lay people react to different types of hypothetical genomic SFs. Participants received a hypothetical letter revealing a SF predisposing to a severe but actionable disease - cardiovascular disease (familial hypercholesterolemia, long QT syndrome) or cancer (Lynch syndrome, Li–Fraumeni syndrome). Participants (N=29) wrote down their initial reactions, and discussed (N=23) these in focus groups. Data were analyzed using inductive thematic analysis.Reactions to hypothetical SFs varied according to perceived severity and familiarity of the diseases. SFs for cancer were perceived as more threatening than for cardiovascular diseases, but less distressing than risk for psychiatric or neurological disorders, which participants spontaneously brought up. Illness severity in terms of lived experience, availability of treatment, stigma, and individual’s responsibility to control risk were perceived to vary across these disease types. In addition to clinical validity and utility, SF reporting practices need to take into account potential familiarity and lay illness representations of different diseases. Illness representations may influence willingness to receive SFs, and individuals’ reactions to this information.

AB - Genome-wide sequencing may generate secondary findings (SFs). It is recommended that validated, clinically actionable SFs are reported back to patients/research participants. To explore publics’ perspectives on the best ways to do this, we performed a vignette study among Finnish adults. Our aim was to explore how lay people react to different types of hypothetical genomic SFs. Participants received a hypothetical letter revealing a SF predisposing to a severe but actionable disease - cardiovascular disease (familial hypercholesterolemia, long QT syndrome) or cancer (Lynch syndrome, Li–Fraumeni syndrome). Participants (N=29) wrote down their initial reactions, and discussed (N=23) these in focus groups. Data were analyzed using inductive thematic analysis.Reactions to hypothetical SFs varied according to perceived severity and familiarity of the diseases. SFs for cancer were perceived as more threatening than for cardiovascular diseases, but less distressing than risk for psychiatric or neurological disorders, which participants spontaneously brought up. Illness severity in terms of lived experience, availability of treatment, stigma, and individual’s responsibility to control risk were perceived to vary across these disease types. In addition to clinical validity and utility, SF reporting practices need to take into account potential familiarity and lay illness representations of different diseases. Illness representations may influence willingness to receive SFs, and individuals’ reactions to this information.

KW - 3142 Public health care science, environmental and occupational health

KW - 5144 Social psychology

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DO - 10.1007/s10897-018-0288-7

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JO - Journal of Genetic Counseling

JF - Journal of Genetic Counseling

SN - 1059-7700

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