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Elucidating the barriers and facilitators to widespread implementation of preconception genetic carrier screening

阐明广泛实施孕前遗传携带者筛查的障碍和促进因素

基本信息

批准号：
10349987
负责人：
Leland Hull
金额：
$ 22.14万
依托单位：
MASSACHUSETTS GENERAL HOSPITAL
依托单位国家：
美国
项目类别：
财政年份：
2022
资助国家：
美国
起止时间：
2022-02-01 至 2027-01-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10349987
关键词：
Address Adult Advocate Affect Age All of Us Research Program American College of Obstetricians and Gynecologists Applications Grants Award Child Clinical Clinical Trials Communities Conceptions Counseling Cystic Fibrosis Cystic Fibrosis Transmembrane Conductance Regulator Data Development Diagnosis Disease Effectiveness Embryo Family Planning Foundations Future Gaucher Disease Genes Genetic Carriers Genetic Counseling Genetic Diseases Genetic Screening Genomic medicine Genomics Goals Guidelines Health Healthcare Heritability Individual Interview Measurable Medical Genetics Mentors Methods Neighborhood Health Center Newborn Infant Online Systems Organizational Policy Parents Participant Pathogenicity Patient Care Patient Preferences Patient advocacy Patients Perception Phenotype Policies Policy Making Population Population Heterogeneity Pregnancy Preventive Professional Organizations Randomized Clinical Trials Recessive Genetic Conditions Research Research Personnel Research Project Grants Risk Role Sampling Sickle Cell Anemia Surveys System Technology Testing Time Training Variant Weight Woman care coordination career carrier testing clinical care cohort consumer product cost design disease phenotype evidence base experience experimental study genetic testing genetic variant health care delivery high risk implementation barriers implementation efforts implementation strategy informant medical schools novel offspring patient oriented patient-level barriers payment phenome population based preference preimplantation prevent programs prospective provider-level barriers reproductive response screening screening program skills system-level barriers testing access tool

项目摘要

Screening of prospective parents to determine if their offspring are at risk for potentially devastating heritable conditions with genetic carrier screening has resulted in measurable decreases in the number of newborns affected by severe recessive disorders. Although professional societies such as the American College of Obstetricians and Gynecologists and the American College of Medical Genetics advocate for genetic carrier screening to be done prior to pregnancy (preconception), access to preconception genetic carrier screening remains low and inequitable. This is because implementation of carrier screening in a diverse national population is complicated and requires 1) understanding the barriers and facilitators of screening at all levels of healthcare delivery, 2) recognizing patient preferences for test delivery, and 3) clarifying potential personal health implications of carrier screening. This award will be used to address these three gaps in our understanding of preconception genetic carrier screening. First, I will interview key informants with experience at all levels of healthcare delivery about their perceptions of the barriers and facilitators to implementing preconception carrier screening programs. Second, I will systematically elicit patient preferences about how genetic carrier screening should be delivered using a discrete choice experiment. The discrete choice experiment will consist of a web-based survey in which different attributes of how preconception carrier screening is offered are varied and prospective patients must choose their preferred screening method. This survey will be administered to two separate cohorts of women of reproductive age to encourage a diversity of responses. Finally, I will use phenome-wide association study methods to investigate whether carriers of autosomal recessive disease are at high risk of other adult diseases. I will focus on CFTR, HBB, and GBA, which are implicated in the autosomal recessive disorders cystic fibrosis, sickle cell anemia, and Gaucher disease, respectively. This study will generate key pilot data that will be used to design testable implementation strategies to enable widespread use of preconception carrier screening. These strategies and their impact on patient care will subsequently be tested in a randomized clinical trial through a future grant application.

对未来父母进行筛查，以确定他们的后代是否存在潜在破坏性遗传风险基因携带者筛查的情况已导致新生儿数量明显减少受严重隐性疾病的影响。尽管像美国大学这样的专业团体妇产科医生和美国医学遗传学学院倡导基因携带者在怀孕前进行筛查(未孕)，获得未孕基因携带者筛查仍然是低和不公平的。这是因为在不同的国家实施了载体筛查人口是复杂的，需要1)了解各级筛查的障碍和促进者医疗保健交付，2)识别患者对测试交付的偏好，以及3)澄清潜在的个人携带者筛查对健康的影响。这一奖项将被用来解决我们在了解先入为主的遗传携带者筛查。首先，我将采访有经验的关键线人在医疗保健提供的所有级别了解他们对实施以下目标的障碍和促进者的看法先入为主的携带者筛查计划。其次，我将系统地了解病人的喜好。应使用离散选择实验进行遗传携带者筛查。不连续的选择实验将由一项基于网络的调查组成，其中不同的属性如何携带先入为主的概念提供的筛查方法多种多样，潜在患者必须选择他们首选的筛查方法。这将对两个不同的育龄妇女队列进行调查，以鼓励回应。最后，我将使用全表型关联性研究方法来调查携带者是否常染色体隐性遗传病是其他成人疾病的高危人群。我将重点介绍CFTR、HBB和GBA，与常染色体隐性遗传病、囊性纤维化、镰状细胞性贫血和高谢尔有关疾病，分别。这项研究将产生关键的试点数据，用于设计可测试的实现能够广泛使用先入为主的携带者筛查的策略。这些战略及其对病人护理随后将通过未来的拨款申请在随机临床试验中进行测试。