25 YEARS OF NEWBORN SCREENING FOR INHERITED METABOLIC DISEASES IN GERMANY - RESULTS, CURRENT STATUS AND FUTURE PERSPECTIVES

In the sixties programs for newborn screening for phenylketonuria were introduced to the Federal Republic of Germany as well as to the German Democratic Republic. By 1969 screening programs had been established in both states, with 20 million newborns screened for phenylketonuria, and more than 3000 patients identified in the years 1969 until 1993. Tests for additional disorders were developed and linked with this established newborn screening program. Today more than 99% of all newborns in Germany are screened for phenylketonuria, galactosemia and congenital hypothyroidism. Other disorders are only screened for regionally, e.g. maple sirup urine disease, homocystinuria and biotinidase deficiency. Recent methodological advances resulted in the development of new screening tests for additional disorders. Several criteria which are to be met before the introduction of a mass screening program are outlined and discussed by the examples of: biotinidase deficiency, congenital adrenal hyperplasia and cystic fibrosis. The first two have been recommended for newborn screening in Germany. Screening for cystic fibrosis remains controversial. New and additional screening programs involve the participation of the whole community of health professionals. The technology which has the farest reaching implications for newborn screening in the near future relates to DNA. It will require self-discipline to evaluate each addition to screening programs with a formal trial, and most of all to retain the capacity to stop, if the new test does not meet important criteria. Screening should only be carried out to detect children at risk for severe health problems which can effectively be prevented by intervention. Further improvements of the newborn screening in Germany require a national policy for screening, definition of programs, evaluation of the effectiveness of prevention, and organisation of reliable financial support. Screening tests should only be conducted in centralized centers testing more than 20,000 and up to 100,000 specimens a year. The screening centers need to be subjected to quality assurance protocols and should be closely linked to treatment centers.