Background

Barriers to genetic testing and subsequent family cascade screening for familial hypercholesterolemia (FH) include cost, patient and provider awareness, privacy and discrimination concerns, need for a physician order, underutilization of genetic counselors, and family concerns about the implications of genetic testing for care.

Objectives

The objective of the study was to determine the uptake of genetic testing with cost and privacy removed.

Methods

The FH Foundation offered free genetic testing and counseling to patients in the patient portal of the CASCADE FH Registry, who had not previously undergone genetic testing for 3 genes associated with FH (LDLR, APOB, and PCSK9). The free testing offer was extended to first-degree relatives of participants who had a positive genetic test result for cascade screening.

Results

Of 435 eligible patients, 147 opted in to participate, 122 consented, and 110 (68.2% female, median age: 52 years) received genetic testing. Of the participants, 64 had a positive genetic test result for a pathogenic variant in LDLR (59) or APOB (5); 11 had a variant of uncertain significance. Only 3 first-degrees relatives underwent genetic testing.

Conclusions

Although there was substantial interest in genetic testing, uptake of family cascade screening was poor. Innovative approaches to increase family cascade screening should be explored.

中文翻译：

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患者在CASCADE FH注册表中接受了家族性高胆固醇血症的基因检测。

背景

遗传测试和随后的家庭家族性高胆固醇血症（FH）的家庭级联筛查的障碍包括成本，患者和提供者的意识，隐私和歧视问题，需要医生命令，遗传咨询师的利用不足以及家庭对基因检测对护理的影响的担忧。

目标

该研究的目的是确定去除成本和隐私的基因测试的采用。

方法

FH基金会在CASCADE FH注册处的患者门户网站上为患者提供了免费的基因检测和咨询，这些患者以前未接受过与FH相关的3个基因（LDLR，APOB和PCSK9）的基因检测。免费测试优惠已扩展至参与者的一级亲属，他们的级联筛查基因测试结果呈阳性。

结果

在435名合格患者中，有147名选择参加，122名获得了同意，并且110名（女性的68.2％，中位年龄：52岁）接受了基因检测。在参与者中，有64位的LDLR（59）或APOB（5）的致病变异基因检测结果为阳性；11具有不确定性的变体。只有3个一级亲属进行了基因检测。

结论

尽管对基因检测有很大的兴趣，但家庭级联筛选的吸收率很低。应该探索增加家庭级联筛选的创新方法。