Ethical, Legal, and Social Concerns About Expanded Newborn Screening: Fragile X Syndrome as a Prototype for Emerging Issues

Abstract

Technology will make it possible to screen for fragile X syndrome and other conditions that do not meet current guidelines for routine newborn screening. This possibility evokes at least 8 broad ethical, legal, and social concerns: (1) early identification of fragile X syndrome, an "untreatable" condition, could lead to heightened anxiety about parenting, oversensitivity to development, alterations in parenting, or disrupted bonding; (2) because fragile X syndrome screening should be voluntary, informed consent could overwhelm parents with information, significantly burden hospitals, and reduce participation in the core screening program; (3) screening will identify some children who are or appear to be phenotypically normal; (4) screening might identify children with other conditions not originally targeted for screening; (5) screening could overwhelm an already limited capacity for genetic counseling and comprehensive care; (6) screening for fragile X syndrome, especially if carrier status is disclosed, increases the likelihood of negative self-concept, societal stigmatization, and insurance or employment discrimination; (7) screening will suggest risk in extended family members, raising ethical and legal issues (because they never consented to screening) and creating a communication burden for parents or expanding the scope of physician responsibility; and (8) screening for fragile X syndrome could heighten discrepancies in how men and women experience genetic risk or decide about testing. To address these concerns we recommend a national newborn screening research network; the development of models for informed decision-making; materials and approaches for helping families understand genetic information and communicating it to others; a national forum to address carrier testing and the disclosure of secondary or incidental findings; and public engagement of scientists, policy makers, ethicists, practitioners, and other citizens to discuss the desired aims of newborn screening and the characteristics of a system needed to achieve those aims.

Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening

“…Some have argued that preventive programs conducted under public health auspices should be held to the same ethical standards as medical innovations introduced into the private sector (Skrabanek 1990). Some have proposed screening for all but a selected group of conditions, whereas others point out the potential for a "treatment odyssey" undertaken by families whose child is identified with a serious condition through screening for which no effective treatment exists (Baily and Murray 2008;Bailey et al 2008). Although there is strong support for universal screening for disorders in which early diagnosis and treatment is lifesaving or produces great medical benefit, justifying the omission of explicit informed consent, this will not be the case for many new conditions that will be identifiable through sequencing.…”

“…Available interventions for these disorders may have varying efficacy, and many disorders could have pleiotropic effects. Incorporation of genetic sequencing panels or even genome-scale sequencing into the NBS paradigm raises significant concerns about the management of such information (Bailey et al 2008). Conditions that are clinically significant and may benefit patients greatly by surveillance and early diagnosis of complications, such as familial adenomatous polyposis, could have an equivalent impact to conditions that are currently screened.…”

Can a decision aid enable informed decisions in neonatal nursery recruitment for a fragile X newborn screening study?

“…Most results indicate carrier status and predict the possibility of largely untreatable, adult-onset disorders for both baby and a parent. 6,[14][15][16] These realities dictate that parents play a meaningful role in deciding whether or not their child should participate in such a study. [17][18][19][20] The study was designed to determine parents' interest in screening, their reasons for accepting or declining, family adaptation to learning about carrier status, and the early developmental progress of identified infants.…”

Developing a Conjoint Analysis Survey of Parental Attitudes Regarding Voluntary Newborn Screening

“…13 With these new technologies, testing can be offered for conditions that have no effective treatment or that can be treated successfully after symptoms appear. 13,14 Some professionals and parents promote newborn screening for such conditions if early diagnosis benefits the family. For example, many advocates of expanded newborn screening are parents of children affected with conditions such as fragile X, for which presymptomatic diagnosis is now available.…”

“…Critics of expanded newborn screening are concerned about the potential negative effects of false-positive tests or of presymptomatic diagnosis and about the violation of a child's autonomy. 14 To address these concerns, some advocates propose voluntary screening. 19 It is not clear, however, how parents will view expanded screening, be it voluntary or mandatory.…”