Patient and parental attitudes toward genetic screening and its implications at an adult cystic fibrosis centre

Abstract

General population screening for cystic fibrosis carrier status in the United Kingdom would detect 72% of at‐risk couples. Proper counselling would allow these couples to make informed reproductive choices, including the possibility of prenatal diagnosis and the termination of an affected pregnancy. However, children with cystic fibrosis born in this decade, given optimum treatment, now have an average life expectancy of 40 years, and there is no unanimity of opinion on how, where, when, or even if, screening should be offered. The purpose of this questionnaire‐based study was to examine the attitudes of an adult clinic population who have grown up with cystic fibrosis, and of their parents, towards genetic screening programmes and the controversies and ethical dilemmas surrounding such programmes in cystic fibrosis. Both patients and parents supported prenatal screening (88% and 90%) and the option of terminating an affected pregnancy (68% and 84%). Only 22% of patients and 10% of parents felt that screening should be limited to families with a history of cystic fibrosis, and 19% and 6%, respectively, that prenatal diagnosis should be restricted to those with a previous child with cystic fibrosis. Despite the negative aspects of any screening programme and the acknowledged ethical problems peculiar to cystic fibrosis, the conclusion of our patients and parents who have lived intimately with the illness is that there should be the option of utilising information available from genetic screening for cystic fibrosis to guide reproductive choices. Pilot programmes to define the optimum management of such screening should continue.

Preventing lives affected by hemophilia: A mixed methods study of the views of adults with hemophilia and their families toward genetic screening

“…Previous research on attitudes toward screening and selective reproduction has been somewhat contradictory. Some studies have revealed widespread support for selective reproduction amongst affected families and adults (e.g., Chen & Schiffman, 2000;Conway, Allenby, & Pond, 1994;Janssens et al, 2016;Potrata, McKibbin, Lim, & Hewison, 2014), whilst more recent research points to ambivalence and conflict (Maxwell et al, 2011), and sometimes outright rejection of the notion of screening on principle (Barter, Hastings, Williams, & Huws, 2016;Boardman & Hale, 2018;Roadhouse et al, 2018). Concerns have been expressed about the loss of (potentially) high quality life in spite of genetic disease, the implied implicit judgement on the value of life with disability and disapproval of the redirection of resources away from social and environmental barrier removal and toward the medical elimination of the condition (Boardman & Hale, 2018;Middleton, Hewison, & Mueller, 1998;Roadhouse et al, 2018).…”

Decision‐making about pregnancy for women with cystic fibrosis

“…None of the participants had considered assisted reproduction or believed alternatives to pregnancy such as surrogacy or adoption to be available to them. Some participants alluded to the notion that future expectations of improvement in duration and quality of life may increase the complexity of the decision‐making process (Conway et al , 1994). However, none allowed this to influence their thinking as this possibility was believed too unreliable and uncertain.…”

“…People with CF often do not find out what they want to know about pregnancy from health professionals (Fair et al , 2000) so may have insufficient information to make informed decisions. Some women with CF purposely avoid acquiring knowledge about pregnancy issues for fear of being put off child‐bearing (Conway et al , 1994). Patients make decisions under certainty based on accumulated facts and emotions, which are subject to individual bias and distortions with fear and recent loss or gain playing a powerful role.…”

Attitudes towards Genetic Diagnosis in Pakistan: A Survey of Medical and Legal Communities and Parents of Thalassemic Children

“…In our study, parents of children with thalassemia major had a very high support for premarital and prenatal screening. Conway et al [25] reported 90% of the parents of affected children to be in favor of prenatal diagnosis. Only 10% of the parents felt that screening should be limited to affected families.…”