Annals of Clinical Biochemistry > Volume 45, Number 1 > Pp. 11-17

This Article Figures Only Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Downing, M. Articles by Pollitt, R. Search for Related Content PubMed PubMed Citation Social Bookmarking                      What's this?

Personal View

Newborn bloodspot screening in the UK – past, present and future

Melanie Downing  and Rodney Pollitt

Clinical Chemistry and Newborn Screening, The Children's Hospital, Western Bank, Sheffield S10 2TH, UK

Corresponding author: Melanie Downing. Email: melanie.downing{at}sch.nhs.uk

Screening newborn babies for inherited metabolic disease began in the UK in the late 1950s with the ‘nappy test’ for phenylketonuria. In 1969 the Department of Health recommended changing to bloodspot screening using the techniques developed in the USA by Robert Guthrie and his associates. Bloodspot screening for various other disorders (galactosaemia, maple syrup urine disease, homocystinuria, cystic fibrosis and others) was introduced on a patchy local basis but, until 2000, the only additional disorder officially recommended was congenital hypothyroidism. Screening for haemoglobinopathies received official support in 2000 and for cystic fibrosis in 2001 though implementation was slow, particularly for the latter. Both these screens have raised difficult issues relating to genetic privacy and the detection of carrier status in children. During the last decade screening has become increasingly subject to central control. Though a more consistent and systematic approach was clearly needed, this has undoubtedly slowed the rate of innovation. In particular the UK has lagged behind many other European countries in the application of tandem mass spectrometry (MS-MS) though, following a major pilot study, screening for medium-chain acyl-CoA dehydrogenase deficiency is now in the process of introduction. Attempts to codify clinical and laboratory procedures have also proved controversial, highlighting marked differences in practice in various parts of the country and the difficulty of rationalizing these within a practicable and scientifically justified framework. Notwithstanding this, there are many positive developments and newborn screening remains a stimulating and rewarding field in which to work.

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?