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.

项目摘要/摘要 先天性异常会影响怀孕的3-5％，但占新生儿死亡的30％。重要的 鉴定出胎儿异常的孕妇的比例未接受指示的产前诊断， 这对于做出有关Matal，胎儿和新生儿护理的明智决定至关重要。这种模式是 在黑人和拉丁X孕妇中显着地看到诊断和新生儿的延迟 这些组的结果。重要的是，关于影响同意的因素的数据有限 这些人群中的遗传诊断可能包括种族和种族主义的实时经验。作为外显子和 基因组测序（ES/GS）被中毒以实施临床护理，了解原因 接受或下降的诊断（测序的第一步）至关重要 关心。此外，数据很少研究ES/GS对Mater Health的纵向影响， 例如关于生殖决策以及产后焦虑和抑郁的遗传数据的重量。检查 随着其他技术的可用，该领域对于知情咨询和非遗憾是至关重要的。 父母奖的长期目标是提高胎儿脑异常产前诊断的精度， 包括在大脑发育中对新候选基因的鉴定和表征。通过 利用父母研究队列和我们机构正在进行的研究，这是该行政的目标 补充是为了确定影响黑人和黑人产前诊断同意的因素 除了寻求遗传诊断之外，拉丁人的人并认识到ES/GS对母亲的影响。我们的 中心假设是，对上述问题的更好理解将产生患者的镜头 以减少分配，促进生殖正义并提供足够的方式实施ES/GS 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不平等 同意遗传诊断，2）ES/GS的结果可能需要额外的咨询 怀孕。我们将通过经过验证的调查和半结构化访谈来检验这些假设。我们 建议以下具体目的：1）确定先天性时影响基因检测的因素 黑色和拉丁语母亲的产前超声检查中检测到异常。 2）量化和限定 ES/GS的社会，心理和生殖影响。在此提出的研究完成 行政补充将：1）提高我们对如何在产前遗传护理中提供平等的知识； 2）作为针对咨询和宣传干预措施的未来调查的初步数据 减少产前和产后遗传护理的分布，这是一个对 NICHD的任务。