Views of patients and parents of children with genetic disorders on population‐based expanded carrier screening. (9th July 2022)

• Record Type: Journal Article
• Authors: Woudstra, Anke J.; van den Heuvel, Lieke M.; van Vliet‐Lachotzki, Elsbeth H.; Dondorp, Wybo; Lakeman, Phillis; Haverman, Lotte; van Langen, Irene M.; Henneman, Lidewij
• Is Part Of: Prenatal diagnosis. Volume 42:Number 9(2022)
• Page Start: 1201
• Page End: 1210
• Publication Date: 2022-07-09
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.6200
• Languages: English
• ISSNs: 0197-3851

Abstract

Abstract: Objective: Faster and cheaper next generation sequencing technologies have enabled expansion of carrier screening for recessive disorders, potentially facilitating population‐based implementation regardless of ancestry or family history. Little is known, however, about the attitudes regarding population‐based carrier screening among families with genetic disorders. This study assessed views among parents and patients with a recessive disorder and parents of children with Down syndrome (DS) on expanded carrier screening (ECS). Method: In total, 85 patients with various recessive disorders, 110 parents of a child with a recessive disorder and 89 parents of a child with DS participated in an online survey in the Netherlands. Severity of recessive disorders was classified as mild/moderate or severe/profound. Results: The majority of the (parents of) patients with a recessive disorder had a positive attitude towards population‐based ECS, including screening for their own or their child's disorder. DS parents were significantly less positive towards ECS. Subgroup analyses showed that the severity of the disorder, rather than being a patient or parent, influences the attitudes, beliefs and intention to participate in ECS. Conclusion: Our findings have important implications for future implementation initiatives as they demonstrate the different perspectives from people with experiential knowledge with genetic disorders. Key points: What's already known about this topic? Carrier screening panels for recessive disorders are rapidly expanding. Concerns have been raised about the possible impact of expanded carrier screening (ECS) on people affected by genetic disorders. What does this study add? The majority of Dutch (parents of) patients with a recessive disorder had a positive attitude towards ECS. Parents of children with Down syndrome are less positive. Severity of the disorder, rather than being a patient or parent, influenced the attitudes, beliefs and intention to participate in ECS.