Benefits and concerns of expanded carrier screening: what do pregnant Latina women in Texas think?

IF 1.5 Q4 GENETICS & HEREDITY
Journal of Community Genetics Pub Date : 2023-12-01 Epub Date: 2023-10-14 DOI:10.1007/s12687-023-00676-6
Embedzayi Madhiri, Haocen Wang, Melodie Tedross, Victoria Vidal, Christine Young, Denise Martinez, Wei-Ju Chen, Patricia Robbins-Furman, Robin Page, Nora Montalvo-Liendo, Lei-Shih Chen
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引用次数: 1

Abstract

The American College of Medical Genetics and Genomics (ACMG) recommends carrier screening for all pregnant women regardless of race or ethnicity. In recent years, the ACMG broadened the guidelines to include expanded carrier screening (ECS) which can screen for 112 conditions. This study seeks to explore the perceptions of pregnant Latina women about the benefits and concerns related to ECS use. Partnering with prenatal clinics in Texas, we conducted semi-structured qualitative interviews with 32 pregnant Latina women in their second or third trimester of pregnancy. NVivo 8 was used to conduct content analysis and emergent coding of the data. Participants reported the benefits of ECS as helping them prepare for the baby's arrival, informing them of the baby's risk for genetic conditions, ensuring the health of their baby, and preventing diseases before birth. The ECS-related concerns expressed by the participants included worries surrounding potential positive ECS results, insufficient knowledge about the genetic diseases screened for by ECS, the accuracy of the ECS, the potential harm ECS may cause the baby, and the affordability of ECS. After weighing both their perceived benefits and concerns, nearly all the participants believed that ECS should be offered to all pregnant women. This study contributes to an understudied research area in the genetic/genomic field. Our findings can help increase the awareness of obstetricians, genetic professionals, and other healthcare providers regarding pregnant Latina women's views on ECS and inform the design of culturally appropriate care as ECS is adopted into routine clinical practice.

扩大携带者筛查的好处和担忧:德克萨斯州的拉丁裔孕妇怎么看?
美国医学遗传学和基因组学学院(ACMG)建议对所有孕妇进行携带者筛查,不分种族或民族。近年来,ACMG扩大了指南范围,包括可筛查112种疾病的扩大携带者筛查(ECS)。本研究旨在探讨拉丁美洲孕妇对ECS使用的益处和担忧的看法。我们与德克萨斯州的产前诊所合作,对32名妊娠中期或晚期的拉丁裔孕妇进行了半结构化的定性访谈。NVivo 8用于对数据进行内容分析和紧急编码。参与者报告了ECS的好处,帮助他们为婴儿的到来做准备,告知他们婴儿患遗传疾病的风险,确保婴儿的健康,并在出生前预防疾病。参与者表达的ECS相关担忧包括对潜在阳性ECS结果的担忧、对ECS筛查的遗传疾病、ECS的准确性、ECS可能对婴儿造成的潜在伤害以及ECS的可负担性了解不足。在权衡了他们所感知的好处和担忧后,几乎所有参与者都认为应该向所有孕妇提供ECS。这项研究有助于遗传学/基因组领域研究不足的领域。我们的研究结果有助于提高产科医生、遗传专业人员和其他医疗保健提供者对怀孕的拉丁裔妇女对ECS的看法的认识,并为ECS被纳入常规临床实践时的文化适宜护理设计提供信息。
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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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