Experiences of cystic fibrosis newborn screening and genetic counseling.

IF 1.5 Q4 GENETICS & HEREDITY Journal of Community Genetics Pub Date : 2023-12-01 Epub Date: 2023-09-01 DOI:10.1007/s12687-023-00666-8
Kimberly Foil, Lillian Christon, Cheryl Kerrigan, Patrick A Flume, Jaclyn Drinkwater, Sylvia Szentpetery
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Abstract

The South Carolina cystic fibrosis (CF) newborn screening (NBS) program changed in 2019 to include CFTR genotyping for babies with top 4% immunoreactive trypsinogen, which improves sensitivity and timeliness but increases carrier detection. Carrier identification has genetic implications for the family and parents of NBS+ babies have increased emotional distress. Genetic counseling (GC) may increase parent understanding and reduce anxiety yet is not uniformly offered at CF centers. We report our early results after implementing GC for NBS+ families at the time of sweat chloride testing based on GC availability, which resulted in an unselected GC- control arm. Sixteen mothers (GC+ = 9, GC- = 7) participated in an online survey about their experience. Responses were analyzed in aggregate and for differences between GC+ and GC- groups. All-respondent sadness and anxiety increased with notification of the NBS+ result and decreased after sweat test results. Anxiety and sadness were greater in GC- compared to GC+ until after the diagnosis was resolved, though emotional differences between the groups were not statistically significant. On a scale of 0 = not at all to 10 = extremely, GC was rated very helpful (mean 9.0, range 5-10), informative (mean 8.9, range 4-10), comforting (mean 9.1, range 6-10), and minimally distracting (mean 1.8, range 0-9). All participants correctly identified that a risk for a child to have CF exists when both parents are (at least) carriers. Delivery of NBS results to respondents varied by timing, informant, and information given. The child's pediatrician notified 10 (62.5%) of the NBS+ result. Parents felt they were notified in a timely manner (68.8%), by someone knowledgeable about NBS (62.5%), the sweat test (62.5%), CF (43.8%), and genetics (43.8%) and who cared about them (81.3%). Parents felt worried (81.3%), confused (81.3%), empowered (25%), and other (sad, shocked, scared, overwhelmed, devastated, defeated). Data from this single-center study suggest benefit of GC, that families would value earlier contact with an expert, and that prompt diagnostic resolution may reduce duration of parental distress.

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囊性纤维化新生儿筛查和遗传咨询经验。
2019年,南卡罗来纳州囊性纤维化(CF)新生儿筛查(NBS)计划发生了变化,包括对免疫反应性胰蛋白酶原最高4%的婴儿进行CFTR基因分型,这提高了灵敏度和及时性,但增加了携带者检测。携带者识别对NBS+婴儿的家庭和父母有遗传影响,增加了他们的情绪困扰。遗传咨询(GC)可以增加父母的理解,减少焦虑,但CF中心并没有统一提供。我们报告了在基于GC可用性的汗氯化物测试时对NBS+家庭实施GC后的早期结果,这导致了未选择的GC对照组。16位母亲(GC+=9,GC-=7)参加了一项关于她们经历的在线调查。对GC+组和GC-组的总体反应和差异进行分析。所有受访者的悲伤和焦虑随着NBS+结果的通知而增加,在汗液测试结果后减少。在诊断得到解决之前,GC-组的焦虑和悲伤程度高于GC+组,尽管两组之间的情绪差异没有统计学意义。在0=根本不到10=极端的范围内,GC被评为非常有用(平均值9.0,范围5-10)、信息丰富(平均值8.9,范围4-10)、舒适(平均值9.1,范围6-10)和最不分散注意力(平均值1.8,范围0-9)。所有参与者都正确地认识到,当父母双方(至少)都是携带者时,孩子患CF的风险是存在的。国家统计局向受访者提供的结果因时间、信息提供者和提供的信息而异。孩子的儿科医生通知了10名(62.5%)NBS+结果。父母认为他们得到了及时的通知(68.8%),得到了了解NBS(62.5%)、汗液测试(62.5%。这项单中心研究的数据表明,GC有好处,家庭会重视尽早与专家接触,及时的诊断解决可能会缩短父母痛苦的持续时间。
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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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