Gf. Hoffmann et G. Machill, 25 YEARS OF NEWBORN SCREENING FOR INHERIT ED METABOLIC DISEASES IN GERMANY - RESULTS, CURRENT STATUS AND FUTURE PERSPECTIVES, Monatsschrift fur Kinderheilkunde, 142(11), 1994, pp. 857-862
In the sixties programs for newborn screening for phenylketonuria were
introduced to the Federal Republic of Germany as well as to the Germa
n 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 es
tablished newborn screening program. Today more than 99% of all newbor
ns in Germany are screened for phenylketonuria, galactosemia and conge
nital hypothyroidism. Other disorders are only screened for regionally
, e.g. maple sirup urine disease, homocystinuria and biotinidase defic
iency. Recent methodological advances resulted in the development of n
ew screening tests for additional disorders. Several criteria which ar
e to be met before the introduction of a mass screening program are ou
tlined and discussed by the examples of: biotinidase deficiency, conge
nital adrenal hyperplasia and cystic fibrosis. The first two have been
recommended for newborn screening in Germany. Screening for cystic fi
brosis remains controversial. New and additional screening programs in
volve the participation of the whole community of health professionals
. The technology which has the farest reaching implications for newbor
n screening in the near future relates to DNA. It will require self-di
scipline to evaluate each addition to screening programs with a formal
trial, and most of all to retain the capacity to stop, if the new tes
t does not meet important criteria. Screening should only be carried o
ut to detect children at risk for severe health problems which can eff
ectively be prevented by intervention. Further improvements of the new
born screening in Germany require a national policy for screening, def
inition of programs, evaluation of the effectiveness of prevention, an
d organisation of reliable financial support. Screening tests should o
nly be conducted in centralized centers testing more than 20,000 and u
p to 100,000 specimens a year. The screening centers need to be subjec
ted to quality assurance protocols and should be closely linked to tre
atment centers.