Long Katie A, Thomas Stephen B, Grubs Robin E, Gettig Elizabeth A, Krishnamurti Lakshmanan
Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.
J Genet Couns. 2011 Dec;20(6):572-92. doi: 10.1007/s10897-011-9388-3. Epub 2011 Jul 12.
Research among African-Americans indicates this population perceives sickle cell (SCD) to be a serious disease and sickle cell trait (SCT) screening an important intervention. However, studies have consistently demonstrated a lower than desired uptake of SCD education, inadequate knowledge regarding personal and family trait status, and a low perceived susceptibility of giving birth to a child with the disease. We examined general attitudes and beliefs regarding genetics and genetic testing including prenatal testing and newborn screening; we used this information as the foundation to more specifically assess attitudes and beliefs regarding SCD and perceived barriers to SCD education and awareness. Thirty-five African-American adult men and women participated in one of four focus groups. Thematic analysis identified that both prenatal testing and newborn screening are acceptable forms of genetic testing. Based largely on their personal experiences, participants possessed an understanding of the natural progression of SCD but had a limited understanding of the inheritance and probable risk of giving birth to a child with the disease. Barriers to education and greater awareness of SCD were classified as personal, familial, and societal. Community based interventions focused on sharing the stories of individuals with first-hand experiences with SCD should be considered.
针对非裔美国人的研究表明,这一群体认为镰状细胞病(SCD)是一种严重疾病,而镰状细胞性状(SCT)筛查是一项重要干预措施。然而,研究一直表明,SCD教育的接受程度低于预期,对个人和家族性状状况的了解不足,且认为生育患有该病孩子的易感性较低。我们研究了关于遗传学和基因检测(包括产前检测和新生儿筛查)的总体态度和信念;我们将这些信息作为基础,更具体地评估关于SCD的态度和信念以及SCD教育和认知的感知障碍。35名非裔美国成年男性和女性参加了四个焦点小组之一。主题分析确定,产前检测和新生儿筛查都是可接受的基因检测形式。主要基于个人经历,参与者了解SCD的自然病程,但对该病的遗传方式以及生育患有该病孩子的可能风险了解有限。SCD教育和提高认知的障碍分为个人、家庭和社会层面。应考虑开展基于社区的干预措施,重点是分享有SCD亲身经历者的故事。