In Reply

My thanks to everyone for their contributions to the discussion. The article „Target diseases for neonatal screening in Germany“ explains the status of German neonatal screening according to the current children‘s guideline of the Federal Joint Committee (G BA) regarding screening for diseases in children, which was last updated on 21 April 2022 (www.g-ba.de/richtlinien/15/, last accessed 26 June 2022), (1). A particular focus was on the challenges for therapy and long-term care for the patients identified by screening. Screening and an early diagnosis are effective only if optimal healthcare structures for identified patients are available in the short term as well as in the long term. For metabolic medicine, so far no structured residency and training program for inborn metabolic diseases has been approved by the German Medical Association, for treating the multitude of congenital metabolic diseases—and this in spite of the growing numbers of patients in childhood as well as adulthood. A structured training program with the aim of an approved specialization in inborn metabolic diseases is furthermore the precondition for defining quality criteria for the respective treatment centers and outpatient services.

We discussed all diseases named in the current pediatric guideline and mentioned hearing screening and pulse oximetry screening for the early detection of these conditions. Hearing screening is another success story in medicine, and we are very pleased that it is being implemented successfully and to a high quality standard (2).

Unarguably, a number of further diseases exists with relevant incidence and the medical-scientific qualification for inclusion in the catalogue of target diseases for screening. In the neonatal screening laboratory in Heidelberg alone, 28 further diseases are currently being examined in the context of a pilot project (3) to become further target diseases for neonatal screening in Germany. In the future, the participating medical societies will face the important task of submitting relevant applications for inclusion of further diseases for assessment to the G-BA. The G-BA examines—following its statutory mandate according to §135 para. 1 Social Code (SGB) V (in connection with §25 para.3 and §26 SGB V)—which new diseases qualify for the early detection with respect to therapeutic benefit, medical necessity, and economical reasons and should be included in the national newborn screening catalogue according to the current scientific insights. On the basis of the results of this examination the G-BA decides whether further diseases should be prescribed at the expense of the statutory health insurance funds (GKV).

In sum, the current neonatal screening confronts us with challenges regarding the long-term healthcare provision for the patient; simultaneously, additional diseases will have to be examined by the G-BA, and the catalogue of these diseases is extensive.