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/文摘