Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening

Abstract

Preconception expanded carrier screening (ECS) aims to detect carrier couples of autosomal recessive (AR) disorders before pregnancy in order to increase reproductive autonomy of prospective parents. Genetic knowledge and knowledge gained from experience influence decision making on participation in genetic testing and understanding carrier test results. In this study we assessed whether parents and relatives of patients with the severe AR condition mucopolysaccharidosis type III (MPS III), who are expected to have genetic and experiential knowledge, have more positive attitudes toward ECS than the Dutch reference group. Parents of all MPS III patients known to the Dutch expert center were invited to participate and asked to invite first and second degree relatives. The online questionnaire started with an educational text, and assessed attitudes toward ECS, genetic knowledge and perceived MPS III severity. Results were compared with the Dutch population. Parents and relatives of MPS III patients ( n = 159) scored higher on the genetic knowledge test and perceived MPS III as more severe compared with the general Dutch population ( n = 781). Parents and relatives reported to be more likely to participate in ECS (84.3% and 62.5%, respectively) compared with the public (31%) ( p < 0.001). Being a relative of a MPS III patient was the strongest variable in the regression analyses for intended ECS participation. Our results show that genetic knowledge influences ECS decision making. Therefore, appropriate information on ECS and genetic counseling is needed to enable prospective parents from the general population, including relatives of patients with severe hereditary disorders, to make informed decisions.

Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population

“…Participants mentioned the benefits of ECS for prospective parents, but also emphasized the benefits from other perspectives (i.e., the future child, family, and society). These positive views are in agreement with the results of earlier survey studies on the attitudes of relatives of MPS III patients (Nijmeijer et al 2020 ) and the general population (Nijmeijer et al 2019 ; Ong et al 2018 ; Plantinga et al 2016 ; Van Steijvoort et al 2020 ). Participants in our study believed that the population needs to be more actively informed about the availability of ECS, which underpins their positive attitudes.…”

“…Previous studies in the Netherlands (Nijmeijer et al 2019 ; Plantinga et al 2016 ), Australia (Ong et al 2018 ), and the UK (Briggs et al 2017 ) showed that most prospective parents are willing to pay a maximum of approximately 50–150 euro, whereas the current costs of ECS in many countries worldwide are much higher. In accordance with previous studies (Gilmore et al 2017 ; McClaren et al 2008 ; Nijmeijer et al 2019 ; Nijmeijer et al 2020 ), a lack of perceived personal relevance due to the absence of a genetic disorder in the family was believed to be an important reason for people to refrain from having ECS. Initiatives to inform couples planning a (near) future pregnancy about the rationale of ECS (e.g., aiming at couples without positive family history), for example with public education or awareness campaigns, are essential and were encouraged by all participants in our study.…”

“…Individuals from the general population (N=18) were significantly younger and more often considered a (future) pregnancy. Relatives of MPS III patients were more often aware of the Amsterdam ECS for 50 severe genetic disorders compared to participants from the general population, due to the fact that most relatives had also participated in a previous questionnaire study on ECS (Nijmeijer et al 2020 ).…”

“…This study explored the perspectives of relatives of MPS III patients and members of the Dutch general population on several important aspects related to preconception ECS. As the current study used a qualitative focus group design, we were able to further assess the motives, considerations, and feelings of relatives of MPS III patients and the general population about ECS, related to the opinions as reported in earlier survey studies on ECS (Nijmeijer et al 2019 ; Nijmeijer et al 2020 ).…”

“…Several studies assessed the attitudes towards ECS among individuals and couples from the general population, suggesting that there is interest among the target population (Chokoshvili et al 2017 ; Nijmeijer et al 2019 ; Ong et al 2018 ; Plantinga et al 2016 ; Spencer et al 2018 ; Van Steijvoort et al 2020 ). Recently, the study of Nijmeijer et al ( 2020 ) showed that relatives of patients with MPS III had more positive attitudes towards ECS than members of the general population, which is in line with the results of other studies assessing attitudes of patients and relatives towards carrier screening for, e.g., fragile X syndrome (Archibald et al 2009 ; Skinner et al 2003 ), spinal muscular atrophy (SMA) (Boardman et al 2017 ), cystic fibrosis (CF) (Janssens et al 2016 ; Maxwell et al 2011 ), and hemophilia (Boardman et al 2019 ). Involving patients and families in discussions about the implementation of ECS can provide important information, as they may perceive different issues on ECS than the general population (Boardman et al 2019 ).…”