CHOICES for Sickle Cell Reproductive Health: RCT of a Preconception Intervention Model for a Single Gene Disorder

项目概要/摘要 我们的长期目标是在以下人群中培养基于遗传学的生殖健康知识和行为： 患有镰状细胞病（SCD）或镰状细胞病（SCT）的年轻人， 选择（choice）。在遗传咨询的后续行动中，选择帮助他们参与行为 与他们的育儿计划一致。与镰状细胞社区一起开发的选择旨在帮助 患有SCD或SCT的年轻人获得遗传遗传知识，详细说明他们的孕前生殖 健康意愿（他们的养育计划），并从事生殖健康行为与他们的 育儿计划我们发现电子书（常规护理控制）和选择的可接受性很高 干预措施。我们还发现持续（24个月），对知识的显着影响，但对行为没有影响， 大概是因为49%的参与者没有生下患有SCD的孩子的风险（例如，伴侣 正常血红蛋白（Hgb A）。有患SCD孩子风险的参与者（有风险）， 选择组（n=26）的行为表现为： 与电子书组（n=16）相比，风险时间减少了27%。然而， 考虑到样本量小，把握度不足（n=42），具有统计学显著性。因此，我们提出了一个充分的 有选择干预和电子书对照的有动力的RCT，以比较它们对遗传的影响。 遗传知识和高危生殖健康行为（后测即刻和6、12、18和24 mo）。使用经过验证的策略（推荐、社交媒体和通信技术）进行招聘， 保留样本，我们将使用基于网络的数据收集（SCKnowIQ）和干预措施提供策略 通过推动和定制的助推器来增强。在430名年龄在18-35岁的成年男性和女性SCD患者中， 或SCT，有风险，并计划在2年内生育一个无SCD的孩子，具体目标是：目标1。 比较电子书和选择组对（a）知识（主要终点）和（B）风险的影响 行为（次要终点）随时间推移（基线、测试后、6、12、18、24个月）用SCKnowIQ测量。 我们假设，在基线后的所有时间点，（a）知识得分较高，（B） 与电子书组相比，选择组中有风险行为的时间百分比（风险时间）较低。 目标2.探索人口因素之间的关系（例如，性别，SC状态），干预可接受性， Aim 1端点（知识，行为）。我们将进行亚组分析， 基线知识和行为以及不同人口统计学或可接受性的干预效果 组鉴于CHOICES的可扩展性和低成本，如果被证明是有效的， 低成本的人口。作为一种遗传咨询后续模式，选择可以转化为知情的 父母的决定以及对受孕前决定的后果的准备。考虑 尽管这对SCD和全球其他单基因疾病的影响很大，但潜在的影响是巨大的。

Project Summary/Abstract Our long-term goal is to foster genetically-informed reproductive health knowledge and behaviors among young adults with sickle cell disease (SCD) or sickle cell trait (SCT) with a web-based, tailored, multimedia intervention (CHOICES). In follow-up to genetic counseling, CHOICES helps them engage in behaviors concordant with their parenting plan. Developed with the sickle cell community, CHOICES is designed to help young adults with SCD or SCT gain knowledge of genetic inheritance, specify their preconception reproductive health intentions (their parenting plan), and engage in reproductive health behaviors concordant with their parenting plan. We found high acceptability of both the e-Book (usual care control) and CHOICES interventions. We also found sustained (24 mo), significant effects on knowledge but not on at behavior, presumably because 49% of the participants were not at risk of having a child with SCD (e.g., partner had normal hemoglobin, Hgb A). Of the participants at risk of having a child with SCD (at-risk) and who expressed intention to get pregnant soon and have a child free of SCD, the CHOICES group’s (n=26), behaviors showed a 27% relative at-risk time reduction compared to the e-Book group (n=16). However, the difference was not statistically significant given the small, underpowered sample (n=42). Hence, we propose an adequately powered RCT with the CHOICES intervention and an e-Book control to compare their effects on genetic inheritance knowledge and at-risk reproductive health behaviors (immediate posttest and at 6, 12, 18, & 24 mo). Using proven strategies (referrals, social media, and communication technology) for recruiting and retaining the sample, we will use web-based data collection (SCKnowIQ) and intervention delivery strategies enhanced by nudges and tailored boosters. In a sample of 430 adult men and women, aged 18-35 yr with SCD or SCT, at-risk, and planning within 2 years to have a child free of SCD, the specific aims are to: Aim 1. Compare e-Book and CHOICES groups for effects on (a) knowledge (primary endpoint), and (b) at-risk behavior (secondary endpoint) measured with the SCKnowIQ over time (baseline, post-test, 6,12, 18,24 mo). We hypothesize that across all time points post baseline, there will be (a) higher knowledge scores and (b) lower percentage of time with at-risk behaviors (at-risk time) in the CHOICES than in the e-Book groups. Aim 2. Explore the relationship between demographic factors (e.g., sex, SC status), intervention acceptability, and the Aim1 endpoints (knowledge, behavior). We will conduct subgroup analyses to provide insight into the baseline knowledge and behavior as well as the intervention effects in different demographic or acceptability groups. Given the scalability and low cost of CHOICES, if proved to be effective, it can reach the affected population at low cost. As a genetic counseling follow-up model, CHOICES may translate into informed parental decisions and preparedness for the consequences of their preconception decisions. Considering the implications for SCD and other single-gene diseases globally, the potential impact is enormous.