Newborn screening: new developments, new dilemmas

Abstract

Scientific and technological advances are lending pressure to expand the scope of newborn screening. Whereas this has great potential for improving child health, it also challenges our current perception of such programmes. Standard newborn screening programmes are clearly justified by the fact that early detection and treatment of affected individuals avoids significant morbidity and mortality. However, proposals to expand the scope and complexity of such testing are not all supported by a similar level of evidence for unequivocal benefit. We argue that screening for genetic susceptibility to complex disorders is inherently different from standard screening and, while of potential value, must be considered separately from conventional testing.

Parents’ experiences 12 years after newborn screening for genetic susceptibility to type 1 diabetes and their attitudes to whole-genome sequencing in newborns

“…Not when you don't, you know sometimes people come to you and fill you full of information, but you're not ready to, to hear it so maybe it needs to be when you're ready for it. Not when somebody else thinks they need to come and tell you about it (8) of the information prior to this, most could not remember a specific discussion and felt that the information had "just always been talked about." In all cases it was the mother who talked to the child about the test result and its meaning.…”

“…7 However, susceptibility testing differs significantly from more traditional NBS tests: whereas a positive NBS test for conditions such as phenylketonuria means that the biochemical disorder is already present and the disease will develop rapidly without treatment, a positive susceptibility test gives an individual information about personal risk of development of disease at some point in the future. 8 The psychosocial impact of such testing in childhood is poorly understood. Whether it is attempts to apply NBS criteria or to assess the validity and utility of susceptibility tests, the arguments of both proponents and skeptics ultimately remain speculative because of a lack of data, including that concerning psychosocial responses of parents and children.…”

Citizens’ Values Regarding Research With Stored Samples From Newborn Screening in Canada

“…The educational component, pamphlet, and questionnaire were developed by a multidisciplinary team, based on a review of the literature, 16,34,37,38 and pretested with 10 individuals using cognitive interviewing techniques to assess comprehension, readability, and face and content validity. Knowledge was assessed by using 9 true/ false questions about NBS, storage, and consent.…”

Newborn screening programs: Should 22q11 deletion syndrome be added?

“…2 The initial impetus for this project was to assess the proposed addition of 22q11DS to Wisconsin's Newborn Screen; however, the issue is nationally pertinent as other states also consider expanded screening for a wide range of conditions, some of which, such as 22q11DS, are variable and may not always require neonatal treatment. This article will discuss the criteria for newborn screening with relation to 22q11DS to facilitate judgment on development of a screening test and potential addition of the syndrome to newborn screening panels.…”