Unmet Needs: Achieving Equity and Support for Parents Pursuing Prenatal Diagnosis in the Genomic Era

未满足的需求：在基因组时代为追求产前诊断的父母实现公平和支持

• 批准号: 10593733
• 负责人: Neeta L Vora
• 金额: $ 15.55万
• 依托单位: UNIV OF NORTH CAROLINA CHAPEL HILL
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-08-12 至 2026-06-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10593733
• 关键词: Address; Administrative Supplement; Affect; Aneuploidy; Anxiety; Area; Automobile Driving; Award; Bioethics Consultants; Black Populations; Black race; Brain; Candidate Disease Gene; Caring; Cohort Studies; Communities; Community Healthcare; Consent; Counseling; Cultural Backgrounds; Data; Development; Diagnosis; Diagnostic; Diagnostic tests; Dissection; Enrollment; Family; Fostering; Future; Generations; Genetic; Genetic Medicine; Genetic Services; Genomic medicine; Genomics; Goals; Health Services Accessibility; Healthcare Systems; Individual; Informed Consent; Institution; Intervention; Interview; Investigation; Justice; Knowledge; Maternal Health; Maternal-fetal medicine; Mental Depression; Methods; Minority Groups; Mission; Modeling; Mothers; National Institute of Child Health and Human Development; Neonatal; Nonmaleficence; Outcome; Parents; Patients; Pattern; Perinatal mortality demographics; Persons; Population; Positioning Attribute; Pregnancy; Prenatal Diagnosis; Psychosocial Assessment and Care; Psychosocial Influences; Race; Religion; Research; Research Design; Research Personnel; Services; Shapes; Specialist; Structure; Surveys; Technology; Test Result; Testing; Underrepresented Minority; Underrepresented Populations; Variant; Weight; Zebrafish; brain abnormalities; clinical care; cohort; congenital anomaly; diagnostic algorithm; diagnostic strategy; disparity reduction; essentialism; ethnic diversity; exome; exome sequencing; experience; family support; fetal; fetal diagnosis; genetic counselor; genetic discrimination; genetic disorder diagnosis; genetic information; genetic testing; genome sequencing; health literacy; improved; insight; neonatal care; neonatal death; neonatal outcome; novel; novel diagnostics; outreach; personalized diagnostics; postnatal; pregnant; prenatal; prenatal influence; psychologic; psychosocial; racism; reproductive; screening; social; technology validation; ultrasound; uptake

PROJECT SUMMARY/ABSTRACT Congenital anomalies affect 3-5% of pregnancies, but account for 30% of neonatal deaths. A significant proportion of pregnant people in whom a fetal anomaly is identified do not receive indicated prenatal diagnosis, which is critical to making informed decisions about maternal, fetal, and neonatal care. This pattern is prominently seen among Black and Latin-X pregnant people, driving delays in diagnosis and worse neonatal outcomes in these groups. Importantly, there is limited data regarding the factors that influence consent to genetic diagnosis in these populations, which may include lived experience of race and racism. As exome and genome sequencing (ES/GS) become poised for implementation into clinical care, understanding reasons for accepting or declining diagnosis – the first step to sequencing – are critically important to just and equitable care. Additionally, there is a paucity of data examining the longitudinal impact of ES/GS on maternal health, such as the weight of genetic data on reproductive decisions, and postnatal anxiety and depression. Examining this area is critical to informed counseling and non-maleficence as additional technologies become available. The long-term goal of the parent award is to improve precision in prenatal diagnosis of fetal brain anomalies, including the identification and characterization of novel candidate genes in brain development. Through leveraging the parent study cohort and ongoing studies at our institution, the goal of this administrative supplement is to determine factors that influence informed consent to prenatal diagnosis among Black and Latin-X people and recognize the impact of ES/GS on mothers beyond seeking a genetic diagnosis. Our central hypothesis is that better understanding of the above issues will generate patient-perspectives to implement ES/GS in a way that reduces disparities, fosters reproductive justice, and provides adequate maternal support. Specifically, we hypothesize that: 1) experiences of racism may drive inequities in informed consent to genetic diagnosis, and 2) results from ES/GS may require additional counseling beyond the affected pregnancy. We will test these hypotheses through validated surveys and semi-structured interviews. We propose the following specific aims: 1) Determine factors that influence genetic testing when a congenital anomaly is detected on prenatal ultrasound in Black and Latin-X mothers; and 2) Quantify and qualify the social, psychological, and reproductive impact of ES/GS. Completion of the research proposed in this administrative supplement will: 1) advance our knowledge of how to provide equity in prenatal genetic care; and 2) serve as preliminary data for future investigations in counseling and outreach interventions aimed at reducing disparities in pre- and postnatal genetic care, an understudied area that is of strategic importance to the mission of the NICHD.

项目总结/摘要 先天性畸形影响3-5%的怀孕，但占新生儿死亡的30%。显著 发现胎儿异常但未接受产前诊断的孕妇比例， 这对于做出关于孕产妇、胎儿和新生儿护理的明智决定至关重要。这种模式 在黑人和拉丁裔孕妇中尤其常见，导致诊断延迟和新生儿死亡率下降。 这些群体的结果。重要的是，关于影响同意的因素的数据有限。 基因诊断，其中可能包括种族和种族主义的生活经验。作为外显子组， 基因组测序（ES/GS）成为准备实施到临床护理，了解的原因， 接受或拒绝诊断-测序的第一步-对公正和公平至关重要 在乎此外，关于教育和科学服务/一般事务对产妇保健的纵向影响的数据很少， 例如基因数据对生育决定的影响，以及产后焦虑和抑郁。检查 随着更多技术的出现，这一领域对知情咨询和不伤害至关重要。 父母奖的长期目标是提高胎儿大脑异常产前诊断的准确性， 包括大脑发育中新候选基因的鉴定和表征。通过 利用母研究队列和我们机构正在进行的研究， 补充是确定影响黑人产前诊断知情同意的因素， 拉丁X人，并认识到ES/GS对母亲的影响超出了寻求遗传诊断。我们 中心假设是，更好地理解上述问题将产生病人的观点， 执行ES/GS的方式应减少差距，促进生殖公正，并提供充分的 母亲的支持。具体来说，我们假设：1）种族主义的经历可能会导致信息不平等。 同意遗传诊断，2）ES/GS的结果可能需要受影响以外的额外咨询 怀孕我们将通过有效的调查和半结构化访谈来验证这些假设。我们 提出以下具体目标：1）确定影响先天性心脏病患者进行基因检测的因素 在黑人和拉丁裔母亲的产前超声检查中检测到异常; 2）量化和定性 环境、社会、心理和生殖影响。完成本报告中提出的研究 行政补充将：1）提高我们对如何提供产前遗传护理公平性的认识; 2）作为未来咨询和外展干预调查的初步数据， 减少产前和产后遗传护理方面的差距，这是一个未得到充分研究的领域， NICHD的使命。