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Informing about genetic risk in families with Huntington disease: comparison of attitudes across two decades

Abstract

The low uptake of presymptomatic testing in Huntington disease prompted us to question family members on how they handle the transmission of information regarding genetic risk. We hypothesised that in 2019, parents would inform their at-risk children about their genetic risk more and at a younger age than in 2000, given the availability of prenatal diagnosis, French legislation changes since 2011, and recent therapeutic advances. We made a questionnaire available about the transmission of genetic information within families with Huntington disease in 2000 and 2019. We obtained 443 questionnaires (295 in 2019 and 148 in 2000). Participants were mainly at-risk for Huntington disease (n = 113), affected (n = 85), and spouses (n = 154). In 2019, participants had a higher mean education level (p < 0.01) and a mean age of 44.1 ± 15.1 years (vs 48.1 ± 11.4 years in 2000, p < 0.01). They had been informed about the risk of being a carrier at around 30 years of age (29.0 ± 14.2 in 2019 vs 32.2 ± 13.8 in 2000, p = 0.09). However, they would inform at an earlier age (≤18 years, 67% vs 59%, p = 0.16). Information on transmission risk had been given primarily by parents (45% vs 30%, p = 0.06). In addition, genetic testing for relatives unaware of their status was recommended more frequently in 2019 (46% vs 32%, p < 0.001). Respondents in 2019 recommended genetic testing more often but overall attitudes towards information and testing have not changed significantly over the 19-year time period since the questionnaire was first delivered even despite recent clinical trials potential disease modifying therapies.

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Fig. 1: How information about genetic risk for Huntington Disease and testing is disclosed within families two decades apart.

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Acknowledgements

We are very grateful to all participants who answered the questionnaires. We would like to very sincerely thank the Association Huntington France, Huntington Espoir and ICS Dingdingdong for their continuous support.

Funding

French Agency of Biomedicine (Grant n° AOR 2017-36).

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LP: analysis and interpretation of data and drafting/revising the paper. JH: analysis and interpretation of data and revising the paper. STdM: study concept and design, analysis and interpretation of data and revising the paper. GC, AH: acquisition of data and revising the paper. ES, AH, EP: acquisition of data. MG, AD: study concept and design, acquisition, analysis and interpretation of data, obtaining funding, study supervision and coordination and drafting/revising the paper.

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Correspondence to Marcela Gargiulo or Alexandra Durr.

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Pierron, L., Hennessy, J., Tezenas du Montcel, S. et al. Informing about genetic risk in families with Huntington disease: comparison of attitudes across two decades. Eur J Hum Genet 29, 672–679 (2021). https://doi.org/10.1038/s41431-020-00776-8

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