Attitudes of Families Affected by Adrenoleukodystrophy toward Prenatal Diagnosis, Presymptomatic and Carrier Testing, and Newborn Screening

Abstract

Families affected by adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) were surveyed to elicit attitudes toward prenatal, presymptomatic and carrier testing, and newborn screening in order to determine the level of support that these families have for current and future genetic testing protocols. Identifying attitudes toward genetic testing, including newborn screening, is especially important because of new data regarding therapeutic options and the possible addition of ALD to newborn screening regimens. The Kennedy Krieger Institute (KKI) database identified 327 prospective participants. Families that were willing to participate in the study received an anonymous questionnaire for completion. Frequencies were generated using SPSS software for Windows. Questionnaires were returned from 128 families for a response rate of 39%. Sons who were at risk for inheriting the ALD gene would be tested by 93% of respondents, and 89.3% would ideally have this testing performed prenatally or in the newborn period. Eighty-nine percent would test an at-risk daughter and 51.2% would ideally have this testing performed prenatally or shortly after birth. ALD newborn screening for males and females was supported by 90% of respondents. If newborn screening for ALD/AMN commences, or there is a new diagnosis of ALD, genetic professionals need to be prepared to have extensive conversations with families regarding the benefits and limitations of current therapeutic and genetic testing options.

Fetal sex determination using cell‐free fetal DNA: service users' experiences of and preferences for service delivery

“…These findings are consistent with previous studies in which pregnancy outcomes for these conditions have been assessed. [14][15][16][17][18][19][20] A key finding was that the women in this study were overwhelmingly positive about their experiences of NIPD. Furthermore, the information they received from health professionals was considered to be adequate and provided an overview of key issues.…”

A Systematic Review of Literature About the Genetic Testing of Adolescents

“…Ten of the quantitative studies were of questionable validity. Six of these studies either reported no evidence of reliability or validity of survey instruments used (Finlay et al., 2008; Schaller, Moser, Begleiter, & Edwards, 2007; Segal, Polansky, & Sankar, 2007; van Korlaar et al., 2005), created scales for use in the study but did not report their psychometric characteristics (Nyrhinen, Hietala, Puukka, & Leino‐Kilpi, 2007), or used scales with low reliability (Bowen, Bourcier, Press, Lewis, & Burke, 2004). One of the 10 studies was compromised by using a historical cohort to provide outcome measures (Suthers, Armstrong, McCormack, & Trott, 2006); one was based on showing future lawyers and physicians a single emotion‐laden video to elicit attitudes toward genetic testing (Elger & Harding, 2006); and one limited the survey to individuals with working telephones (Rose, Peters, Shea, & Armstrong, 2005).…”

Caregiver opinions about fragile X population screening

“…This finding is consistent with other research showing that, for the most part, parents want genetic and health information that has any bearing on the well-being of their children. 31-33 Studies of families of children with other conditions vary in the extent to which the availability of a known condition-specific treatment affects parent opinions. 34-36 But consistent with most of these studies, many parents of children with FXS felt that earlier identification would enable access to early intervention and therapy services, even though those services are not FXS specific and their efficacy with FXS has not been demonstrated.…”