Newborn Screening: La La La DNA

5. December 2014

A new trend in the US: comprehensive and detailed genetic testing of children will soon replace conventional screening. American parents are mostly excited about these new opportunities, while paediatricians warn of potential risks.

Screenings as a model of success: Since 1986, paediatricians have been examining newborns for adrenogenital syndrome (AGS), an autosomal recessive inherited metabolic disease. Those affected suffer from disorders of their hormone biosynthesis in the adrenal cortex. In order to detect the disease, our colleagues determine 17-hydroxy-progesterone levels in blood samples. As Sebastian Gidlöf, Stockholm, reports, over 2.7 million babies were tested for AGS between1986 and 2011. Sensitivity was 84.3 percent, and specificity amounted to 99.9 percent.

Extensive programs

Not an isolated situation: in Germany for example “Guidelines of the German Federal Committee of Physicians and Sickness Funds on the Early Detection of Diseases in Children up to the Age of Six Years” governs details relating to neonatal screening. According to appendix 2, paragraph 5 doctors test blood samples using conventional tests for hypothyroidism, for adrenogenital syndrome, for biotinidase deficiency and/or for galactosemia. For other metabolic disorders the tandem mass spectrometer gets employed. Parents appreciate these services as offered: according to the Bavarian Screening Centre’s Screeningreport, almost all newborns have been put through the screening programs. Scientists are now pushing for cystic fibrosis and severe combined immunodeficiency (SCID) to be taken into screening as well. In the US, citizens are not satisfied to just leave it at that.

Series of genetic tests

In order to ascertain details, Aaron J. Goldberg, Cleveland, surveyed 1,539 parents. The researcher wanted to know about the nature of acceptance met by genome analysis of newborns. Three out of four study participants indicated finding the technology interesting or very interesting. Were paediatricians to offer sequencing, 70 percent would take such services. With his results Goldberg primarily approaches government health facilities. These would be better able to assess which needs for sequencing actually exist, writes the scientist. The first pilot projects are already under way. The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI) are studying molecular biological aspects as such, with focus on the very young. “Sequencing processes have the potential to recognise a variety of diseases at the very beginning of life”, says Alan E. Guttmacher, director of the NICHD, “but the capacity to decipher a person’s genetic code quickly raises a number of clinical, ethical and technical issues”.

Data, nothing but data

Details were compiled by Bartha M. Knoppers, Montreal, in a review article: Where is sensitive information stored, who has access to it and who can initiate a cancellation? Does it make sense to archive sequence data for a lifetime, or – as soon as methods become better – should a new examination be carried out regardless? As if that weren’t enough: doctors are faced with serious moral decisions. Should they inform parents only about diseases that can be treated today – or about all conditions? And how competent are the service providers really? Most recently, the US Food and Drug Administration prohibited 23andMe from evaluating medically results of genetic testing. You are lacking the necessary approval, it was stated in writing. As a result no certainty exists for obtaining correct results. Sequencing is still possible; however users are reliant on openSNP in order to have their raw data evaluated.

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Medicine, Pediatrics

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