INTRODUCTIONWith the development of technologies such as whole genome sequencing, population screening for increasing numbers of genetic disorders is now more feasible than ever before. While many of the genetic disorders for which screening could be introduced are considered rare, most have limited treatment options, a substantial impact on quality of life and unpredictable/variable trajectories (Rose, ). Genetic screening for such conditions, it has been argued, would allow carrier parents the option of avoiding the birth of an affected child (when carried out preconceptually or prenatally), or the timely introduction of therapies or clinical trial enrollment (when carried out on newborns). As well as earlier identification, newborn genetic screening is also associated with what has been termed ‘reproductive benefit’ (Bombard et al., ). That is, through their identification as carriers, parents (as well as their wider family) will be able to make informed decisions in relation to any subsequent pregnancies (Botkin & Rothwell, ). Moreover, some newborn genetic screening programs, for example, that for cystic fibrosis in the UK, are capable of not only identifying infants who have (or will develop) cystic fibrosis, but also those infants who are genetic carriers. Thus, the “reproductive benefit” of newborn screening may potentially
Molecular Genetics & Genomic Medicine – Wiley
Published: Jan 1, 2018
Keywords: ; ; ; ;
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