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Viðhorf íslenskra kvenna til erfðaráðgjafar og erfðaprófa á BRCA1 og BRCA2 stökkbreytingum

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Authors
Þórdís Jónsdóttir
Heiðdís Valdimarsdóttir
Laufey Tryggvadóttir
Sigrún Lund
Maríanna Þórðardóttir
Magnús Magnússon
Unnur Valdimarsdóttir
Issue Date
2018-06-05

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Other Titles
Views of Icelandic women towards genetic counseling - and testing of BRCA2 mutations
Citation
Viðhorf íslenskra kvenna til erfðaráðgjafar og erfðaprófa á BRCA1 og BRCA2 stökkbreytingum, 2018, 104(6):289-296Læknablaðið
Abstract
TILGANGUR Markmið rannsóknarinnar var að kanna viðhorf íslenskra kvenna til erfðaupplýsinga, erfðaráðgjafar og erfðaprófs vegna stökkbreytinga í BRCA-genum sem auka verulega áhættuna á illvígum krabbameinum. EFNIVIÐUR OG AÐFERÐIR Konum sem komu í krabbameinsskoðun á Leitarstöð Krabbameins­félagsins frá 12. október til 20. nóvember 2015 var boðin þátttaka. Þátttaka fólst í svörun á stuttum rafrænum spurningalista um bakgrunn, fjölskyldusögu um krabbamein ásamt þekkingu og áhuga á erfða­ráðgjöf, erfðaprófi vegna BRCA-stökkbreytinga og hvort upplýsa ætti konur sem vitað er, til dæmis vegna vísindarannsókna, að eru arfberar. Notast var við lýsandi tölfræði og kíkvaðratpróf til að skoða viðhorf kvennanna til ofangreindra þátta. NIÐURSTÖÐUR 1129 konur (69% svarhlutfall) svöruðu spurningalistanum. Meðal­aldur var 47 ár (spönn: 21-76 ára) og tæplega helmingur (47%) þekkti til BRCA-stökkbreytinga. Óháð ættarsögu um krabbamein hafði meirihluti kvenna áhuga á að fara í erfðaráðgjöf (79%) og í erfðapróf (83%), sérstaklega yngri konur (ráðgjöf: p<0,0001, erfðapróf: p<0,0001). Hins vegar höfðu einungis 4% kvennanna þegar farið í erfðaráðgjöf og 7% í erfðapróf. Konur með ættarsögu um krabbamein höfðu meiri vitneskju um BRCA-stökkbreytingarnar (p<0,0001) og virtust síður hræðast afleiðingar þess að hafa slíka stökkbreytingu (p<0,0001) samanborið við konur með litla ættarsögu. Óháð ættarsögu hafði helmingur (49%) áhyggjur af því að niðurstöður erfðaprófa hefðu áhrif á sjúkratryggingar. Nær allar konurnar (97%) voru hlynntar eða mjög hlynntar því að erfðaupplýsingar sem liggja fyrir vegna vísinda­rannsókna séu nýttar til að upplýsa arfbera stökkbreytinganna. ÁLYKTUN Viðhorf íslenskra kvenna er jákvætt gagnvart erfðaráðgjöf og erfðaprófs vegna BRCA-stökkbreytinga en um helmingur virðist hafa áhyggjur af skertum rétti til sjúkratrygginga í kjölfar jákvæðrar niðurstöðu. Þrátt fyrir það er skýr vilji fyrir því að upplýsa skuli arfbera um stöðu sína í forvarnarskyni.
Introduction The aim of this study was to explore the attitudes of Icelandic women towards existing genetic information, genetic counseling and genetic testing for BRCA mutations which dramatically increase risk for aggressive cancers. Materials and methods Women attending the cancer prevention clinic in Reykjavik, capital of Iceland, from October 12th until November 20th 2015 received an invitation to participate. Participation involved answering a short online questionnaire about background, family history of cancer as well as attitudes towards genetic counseling, BRCA testing and preventive use of such information. Descriptive statistics and chi-square tests were used to describe differences in attitudes towards those questions between subgroups of women. Results 1129 women (69% response rate) answered the questionnaire. Mean age was 47 years (span 21-76 years). Around half (47%) had heard fairly much about the mutations. Independent of family history of cancer, the majority of women were positive towards receiving genetic counseling (79%) and to undergo genetic testing (83%) for BRCA mutation with younger women being more interested than older women. On the other hand, only 4% of the women had already received genetic counseling and 7% undergone genetic testing. Women with family history of cancer were more knowledgeable about BRCA mutations (p<0.0001) and were less afraid of the consequence of being a mutation carrier (p<0.0001) compared to those with little or no family history. Regardless of family history, half (49%) worried that results from genetic testing could influence their health insurance. Almost all, or 97% of the women, were positive or very positive toward using existing genetic information obtained through scientific work, to inform affected indi­viduals of their mutation status. Conclusion Icelandic women are positive towards genetic counseling and testing for BRCA mutations although half of them worry that a positive result might affect their health insurance. Nevertheless, almost all women believe that existing genetic information should be used to inform carriers for preventive purposes.
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http://laeknabladid.is/tolublod/2018/06/nr/6755
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ae974a485f413a2113503eed53cd6c53
10.17992/lbl.2018.06.189
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Icelandic Journal Articles (Peer Reviewed)

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