Acceptance and Success of a genomic newborn screening program.
Newborn screening is a highly successful secondary prevention program in medicine and has enjoyed a high level of acceptance since its launch more than 50 years ago. The basis for this success, in addition to the successive introduction of technical innovations, was in particular the careful development of and adherence to minimum criteria for the program and the selection of target diseases, as well as the continuous optimization of the program. This has made it possible to continuously increase the benefit for patients, the healthcare system, and society and to limit potential harm. However, for a successful future expansion of newborn screening by means of genome sequencing, the programs' normative framework and the selection criteria for target diseases need to be critically reviewed and adapted to the programs' future needs, so that its benefit and its acceptance will continue to remain high.
Newborn screening is based on the catalog of criteria for screening examinations drawn up by Wilson & Jungner in 1968 on behalf of the WHO. This set of criteria is recognized worldwide as the basis of existing newborn screening programs. However, there is considerable variation in the interpretation and implementation of these criteria. Furthermore, an urgent need for revision of the screening criteria has been repeatedly pointed out. Through a systematic literature review and evaluation of current newborn screening program expansion pilots, we will examine the following questions:
- Which screening criteria cannot be met or can only be met to a limited extent before new screening diseases (focus: rare diseases) are added to the program?
- Through which modifications can the existing criteria be improved?
- Which criteria should be added to the existing list of criteria so that the requirements of a genomic newborn screening program can be met in the future?
Team
Prof. Dr. Stefan Kölker
Univ.-Prof. Dr. med. Stefan Kölker is W3-Professor and Head of the Section for Neuropediatrics and Metabolic Medicine, Center for Pediatrics and Adolescent Medicine, Pediatric Clinic I (ZKJM).
Clinical-scientific career
- Since 2015 W3 professorship in Translational Neuropediatrics and Metabolic Medicine; section head.
- 2010-2014 Head, Section for Congenital Metabolic Diseases
- 2011-2014 Associate Professor
- Since 2007 Consultant for pediatric and adolescent medicine
- 2007 Venia legendi for pediatric and adolescent medicine
- 2001-2006 Physician in training, ZKJM
- 1999-2001 DFG Research Fellow, Universities of Marburg and Heidelberg
- 1998 Doctorate "Dr. med.", Philipps-University Marburg
Scientific focus & active third-party funding
- Newborn screening (Dietmar Hopp Foundation: pilot project and long-term outcomestudy "NGS 2025", BMBF: "NEW_LIVES");
- Long-term monitoring studies (EU collaborative projects [Chafea, HaDEA]: "U-IMD", "MetabERN E-Connect");
- Translational research (DFG collaborative project "CHARLIE", EU collaborative projects [Horizon Health]: "SIMPATHIC", "Recon4IMD");
- Evaluation of innovative therapies for people with rare diseases (G-BA innovation fund "INTEGRATE-ATMP"; PASS studies for the orphan drugs glycerol phenylbutyrate [Ravicti®] and betaine anhydrate [Cystadane®]).
Publications
- > 250 PubMed-listed publications
- h-index: 49 (ISI Web of Science), 59 (GoogleScholar)
PD Dr. Ulrike Mütze
PD Dr. med. Ulrike Mütze is senior physician and deputy head of the clinical research group Section for Neuropediatrics and Metabolic Medicine, ZKJM.
Clinical-scientific career
UKHD and MFHD (since 2015):
- Since 2022 Consultant for pediatric and adolescent medicine.
- Since 2021 Deputy head of clinical research group
- 2021 Venia legendi for pediatric and adolescent medicine
- 2019-2021 Habilitation scholarship (Faculty of Medicine)
- 2018 Certificate Pediatric Metabolic Medicine
University and University Hospital Leipzig (2007-2015):
- 2014 Specialist in pediatric and adolescent medicine.
- 2009-2010 Rotational fellowship (Faculty of Medicine)
- 2008 Doctorate "Dr. med."
- 2007-2014 Doctor in further education
Scientific focus & active third-party funding
- Newborn screening (Dietmar Hopp Foundation: pilot project and long-term outcomestudy "NGS 2025", BMBF: "NEW_LIVES")
- Study physician for further international registry studies (e.g. E-IMD, U-IMD)
Publications
- > 25 PubMed-listed publications
Dr. Elena Schnabel
Elena Schnabel, MD, is a specialist in pediatric and adolescent medicine, ZKJM, UKHD.
Clinical-scientific career
- Since 2022 Specialist in Pediatric and Adolescent Medicine, ZKJM; in advanced training on Pediatric Metabolic Medicine.
- 2020 Doctorate "Dr. med.", MFHD
- 2019-2022 Physician in advanced training, ZKJM
- 2016-2018 Physician in advanced training, Maulbronn Children's Center.
Scientific focus
- Newborn screening (Dietmar Hopp Foundation: pilot project and long-term outcomestudy "NGS 2025", BMBF: "NEW_LIVES")
- Study physician for further international registry studies (e.g. E-IMD, U-IMD)
