Newborn screening in Europe Expert Opinion document

FINAL 28/08/2011been funded by the EU (ORPHANET, EUROCAT). 17 These stakeholders could be involvedin exploring the potential for expanding NBS programs in a responsible way.Neonatal screening vs genetic screeningDepending on the definitions used, neonatal screening can be seen as a form of geneticscreening, as many of the conditions screened for are autosomal recessive inherited disorders.Sometimes a test is only considered “genetic” when “DNA-based testing” is referred to,however, usually “any unambiguous genetic information” is included in the definition of“genetic” testing. 18 The latter view implies that most neonatal screening is genetic screening,except for screening for congenital hypothyroidism, which is usually not genetic, andscreening for congenital deafness, which is often but not always genetic.Some authors distinguish “genetic testing” from “genetic screening”, where “testing” mayrelate to requests in individual health care, for instance diagnostic or prenatal. Differentdefinitions exist. We use a broad definition of genetic testing, that includes populationscreening.Genetic screening may raise multiple concerns about eugenics, abortion, storage and futureuse of samples, population-based DNA banks, breach of privacy, labelling, stigmatisation,discrimination, fatalism, and many more. 19 Many of these concerns are not necessarilyinherent to neonatal screening, but as for other forms of screening, they depend on howdecisions are made with respect to introducing screening, how screening services areorganised and what safeguards are in place. Genetic screening does bring with it certainaspects that are not common to other forms of screening, including the issue that geneticinformation may also have implications for other family members. For preconceptional andprenatal genetic screening the „intervention‟ may not be a specific treatment, but rathernondirective counselling to better understand reproductive choices in light of the test results.Neonatal screening may lead to the identification of carriers, for instance if HPLC is used forscreening for sickle cell disease, or DNA analysis is performed in cystic fibrosis screening. Ifthe newborn is a carrier, at least one of the parents is a carrier, and the risk that the parents area carrier couple is increased. It is thus relevant for the parents to be informed of carrier statusas an incidental finding. There is growing international consensus that any abnormal resultsassociated with clinical significant conditions, including the definitive identification of carrierstatus, should also be reported. 20 However, not all countries agree with this position. InGermany for instance the law protects the right not to know, and prohibits informing parents17 http://www.orpha.net/consor/cgi-bin/index.php; http://www.eurocat-network.eu/18Pinto-Basto et al. Scope of definitions of genetic testing: evidence from a EuroGentest survey. J CommunityGenet (2010) 1:29–35 http://www.eurogentest.org/uploads/1273480884000/JCommGenet2010(1)29-35.pdf19 Andermann A, Blancquaert I, Dery V. A conceptual framework for genetic screening and policy-making.Journal of Health Services Research & Policy 2010;15: 90-97.20 European Society of Human Genetics. Genetic testing in asymptomatic minors: Recommendations of theEuropean Society of Human Genetics. Eur J Hum Genet. 2009;17:720-1.Burton H, Moorthie S. Expanded newborn screening. A review of the evidence. Cambridge, PHG foundation,2010.Bombard Y, Miller FA, Hayeems RZ, Avard D, Knoppers BM, Cornel MC, Borry P. The expansion of newbornscreening: is reproductive benefit an appropriate pursuit? Nat Rev Genet. 2009;10:666-7.Borry P, Nys H, Dierickx K. Carrier testing in minors: conflicting views. Nat Rev Genet. 2007 Nov;8(11):828.12