对[疾病名称1]和[疾病名称2]进行症状前检测的接受情况与年龄、性别、子女情况及时间有关。

Uptake of pre-symptomatic testing for and is age, gender, offspring and time-dependent.

作者信息

Forde Claire, Brunstrom Kate, Woodward Emma, Bowers Naomi, Pereira Marta, Wallace Andrew J, Lalloo Fiona, Harkness Elaine F, Evans D Gareth

机构信息

Clinical Genetics Service, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.

出版信息

J Med Genet. 2020 Apr 30. doi: 10.1136/jmedgenet-2019-106544.

DOI:10.1136/jmedgenet-2019-106544

PMID:32354797

Abstract

BACKGROUND

Genetic testing for pathogenic variants (PVs) has been available in North West England since 1995. We assessed uptake of pre-symptomatic testing in 1564 families with PVs over a 24.5year follow-up (FU) period.

METHODS

First-degree relatives (FDRs) in families with or PVs were eligible from date of index family report if unaffected by a relevant cancer and alive at report date. FDRs were censored as not having undergone a pre-symptomatic test at diagnosis of a relevant cancer, date of death, age 93 or 30/03/2019. Time to uptake of pre-symptomatic testing was assessed by Kaplan-Meier curves, by gender and children.

RESULTS

2554 male and 3115 female FDRs were eligible. Overall uptake was 775 (30.3%) in men and 1935 (62.1%) in women. This increased at 15 years to 33.6% and 67.9%, and continued to rise until 24 years (p<0.001). For women, the 29-year to 39-year age group had the highest uptake at 10 years FU (72.5%; p<0.01), whereas the 50-year to 59-year age group was highest in men (37.2%; p<0.01). Women <18 years at the time of familial variant identification had lower initial uptake, but this rose to >80% by 15 years. Uptake was higher in parous women (p<0.001) and in men with daughters (p<0.0001).

CONCLUSION

Uptake of / pre-symptomatic testing is age, gender and time-dependent, and higher in women with children and men with daughters.

摘要

背景

自1995年以来，英格兰西北部就已开展针对致病变异（PVs）的基因检测。我们在24.5年的随访期内评估了1564个携带PVs的家庭中症状前检测的接受情况。

方法

携带或不携带PVs的家庭中的一级亲属（FDRs），如果未受相关癌症影响且在报告日期时存活，则从索引家庭报告日期起符合条件。FDRs在被诊断出患有相关癌症、死亡日期、93岁或2019年3月30日时被视为未接受症状前检测。通过Kaplan-Meier曲线按性别和子女情况评估症状前检测的接受时间。

结果

2554名男性和3115名女性FDRs符合条件。总体接受率男性为775人（30.3%），女性为1935人（62.1%）。15岁时分别增至33.6%和67.9%，并持续上升至24年（p<0.001）。对于女性，在随访10年时，29岁至39岁年龄组的接受率最高（72.5%；p<0.01），而男性中50岁至59岁年龄组最高（37.2%；p<0.01）。在家族变异识别时年龄小于18岁的女性初始接受率较低，但到15岁时升至80%以上。有子女的女性接受率较高（p<0.001），有女儿的男性接受率较高（p<0.0001）。