AP-HP, Department of Genetics, Pitié-Salpêtrière University Hospital, Paris, France.
Sorbonne Université, Paris Brain Institute (ICM), AP-HP, INSERM, CNRS, Pitié-Salpêtrière University Hospital, Paris, France.
Eur J Hum Genet. 2021 Apr;29(4):672-679. doi: 10.1038/s41431-020-00776-8. Epub 2020 Dec 9.
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.
亨廷顿病的临床前期检测率较低，促使我们询问患者家属他们如何处理与遗传风险相关的信息传递。我们假设，鉴于产前诊断、2011 年以来法国立法的变化以及最近的治疗进展，2019 年的父母会比 2000 年更早地告知其有患病风险的子女遗传风险。我们制作了一个关于 2000 年和 2019 年亨廷顿病家庭遗传信息传递的调查问卷。我们共获得了 443 份问卷（2019 年 295 份，2000 年 148 份）。参与者主要是亨廷顿病的高危人群（n=113）、患者（n=85）和配偶（n=154）。2019 年，参与者的平均受教育程度更高（p<0.01），平均年龄为 44.1±15.1 岁（2000 年为 48.1±11.4 岁，p<0.01）。他们在 30 岁左右得知自己携带致病基因的风险（2019 年为 29.0±14.2 岁，2000 年为 32.2±13.8 岁，p=0.09）。然而，他们表示会更早告知（≤18 岁，67%比 59%，p=0.16）。遗传风险信息主要由父母提供（45%比 30%，p=0.06）。此外，2019 年建议对不知道自己患病状况的亲属进行基因检测的频率更高（46%比 32%，p<0.001）。尽管近 19 年来，有一些临床试验表明潜在的疾病修饰疗法，但 2019 年的受访者更倾向于进行基因检测，但总体而言，他们对信息和检测的态度并没有发生显著变化。
