Published by De Gruyter

Volume 34 Issue 1

Issue of Medizinische Genetik

Contents
Journal Overview

Publicly Available May 7, 2022

MAIN TOPIC: Genetic Newborn Screening in Germany

Open Access May 7, 2022

Newborn screening in Germany

Holger Tönnies, Uta Nennstiel

Page range: 1-2

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Open Access May 7, 2022

Legal aspects of newborn screening

Henning Rosenau, Felicia Steffen

Page range: 3-11

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Abstract

Newborn screening is used for the early detection of diseases in newborns and enables rapid intervention to prevent serious consequences, including infant death. Since the Genetic Diagnostics Act came into force in 2010, the rules of the Act have applied to newborn screening. Over the years since the Act came into force, some legal issues have been resolved, but new legal aspects have also arisen for which the Act does not yet provide a solution.

Open Access May 7, 2022

From newborn screening to genomic medicine: challenges and suggestions on how to incorporate genomic newborn screening in public health programs

Nicola Dikow, Beate Ditzen, Stefan Kölker, Georg F. Hoffmann, Christian P. Schaaf

Page range: 13-20

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Abstract

Newborn screening (NBS) programs are considered among the most effective and efficient measures of secondary prevention in medicine. In individuals with medical conditions, genomic sequencing has become available in routine healthcare, and results from exome or genome sequencing may help to guide treatment decisions. Genomic sequencing in healthy or asymptomatic newborns (gNBS) is feasible and reveals clinically relevant disorders that are not detectable by biochemical analyses alone. However, the implementation of genomic sequencing in population-based screening programs comes with technological, clinical, ethical, and psychological issues, as well as economic and legal topics. Here, we address and discuss the most important questions to be considered when implementing gNBS, such as “which categories of results should be reported” or “which is the best time to return results”. We also offer ideas on how to balance expected benefits against possible harms to children and their families.

Open Access May 7, 2022

Second-tier strategies in newborn screening – potential and limitations

Gwendolyn Gramer, Georg F. Hoffmann

Page range: 21-28

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Abstract

Newborn screening (NBS) is a public health measure to identify children with treatable disorders within the first days of life allowing presymptomatic treatment. It is the most successful measure of secondary medical prevention and part of public health programs in many countries worldwide. Application of second-tier strategies in NBS allows for increased specificity and consecutively a higher positive predictive value. Second-tier strategies can include analysis of specific biomarkers for a target disorder or may be based on molecular genetic analyses. Improving the quality of NBS, for example by second-tier strategies, is of utmost importance to maintain the high acceptance of NBS by families – especially as an increasing number of target disorders is being consecutively included into NBS programs.

Open Access May 7, 2022

Twenty years of newborn screening for congenital adrenal hyperplasia and congenital primary hypothyroidism – experiences from the DGKED/AQUAPE study group for quality improvement in Germany

Johanna Hammersen, Markus Bettendorf, Walter Bonfig, Eckhard Schönau, Katharina Warncke, Alexander J. Eckert, Susanne Fricke-Otto, Katja Palm, Reinhard W. Holl, Joachim Woelfle

Page range: 29-40

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Abstract

Congenital primary hypothyroidism (CH) and congenital adrenal hyperplasia (CAH) are targeted by the German and Austrian newborn screening. For both diseases, there are registries for quality improvement, based on standardized observational data from long-term patient follow-up, under the auspices of the DGKED study group. By September 2021, the CH registry HypoDOK includes datasets from 23,348 visits of 1,840 patients, and the CAH registry contains datasets from 36,237 visits of 1,976 patients. Here, we report on the recruitment process, patient characteristics, and research contributions from the registries, and underline that the registries are an important tool to improve patient care and outcomes. Registries for rare conditions should thus be considered as an important public health measure and they should be adequately institutionalized and funded.

Open Access May 7, 2022

Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study

Veronika Sanin, Raphael Schmieder, Sara Ates, Lea Dewi Schlieben, Jens Wiehler, Ruoyu Sun, Manuela Decker, Michaela Sander, Stefan Holdenrieder, Florian Kohlmayer, Anna Friedmann, Volker Mall, Therese Feiler, Arne Dreßler, Tim M. Strom, Holger Prokisch, Thomas Meitinger, Moritz von Scheidt, Wolfgang Koenig, Georg Leipold, Heribert Schunkert

Page range: 41-51

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Abstract

Familial hypercholesterolemia (FH) is the most frequent monogenic disorder (prevalence 1:250) in the general population. Early diagnosis during childhood enables pre-emptive treatment, thus reducing the risk of severe atherosclerotic manifestations later in life. Nonetheless, FH screening programs are scarce. VRONI offers all children aged 5–14 years in Bavaria a FH screening in the context of regular pediatric visits. LDL-cholesterol (LDL-C) is measured centrally, followed by genetic analysis for FH if exceeding the age-specific 95th percentile (130 mg/dl, 3.34 mmol/l). Children with FH pathogenic variants are treated by specialized pediatricians and offered a FH-focused training course by a qualified training center. Reverse cascade screening is recommended for all first-degree relatives. VRONI aims to prove the feasibility of a population-based FH screening in children and to lay the foundation for a nationwide screening program.

BERICHTE AUS DER HUMANGENETIK

Stellungnahmen und Leitlinien

Open Access May 7, 2022

S1-Leitlinie: Tumorgenetik – Diagnostik im Kontext maligner Erkrankungen

Page range: 53-68

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GfH-Verbandsmitteilungen

May 7, 2022

Jahresberichte 2021 aus den GfH-Kommissionen und GfH-Arbeitskreisen

Page range: 69-80

May 7, 2022

Über die Notwendigkeit der Anerkennung von sog. Kernberufsgruppen innerhalb der genetischen Gesundheitsversorgung in Europa

Milena Paneque, Clara Serra Juhé, Bela Melegh, Isabel Carreira, Ute Moog, Thomas Liehr

Page range: 81-83

BVDH-Verbandsmitteilungen

May 7, 2022

GenomDE und Modellvorhaben – neue Versorgungsstrukturen in der Humangenetik

Page range: 85-87

Aktuelle Nachrichten

May 7, 2022

Aktuelle Nachrichten

Page range: 89-91

About this journal

Objectives

medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community.

In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.

Main Topics for the coming issues are:

Genomics and Epigenomics of Psychiatric Disorders

Hereditary Hearing Loss and Deafness Overview

Periphere Neurogenetic Disorders

Genomic Imprinting

Volume 34 Issue 1

Issue of Medizinische Genetik

Frontmatter

Newborn screening in Germany

Legal aspects of newborn screening

Abstract

From newborn screening to genomic medicine: challenges and suggestions on how to incorporate genomic newborn screening in public health programs

Abstract

Second-tier strategies in newborn screening – potential and limitations

Abstract

Twenty years of newborn screening for congenital adrenal hyperplasia and congenital primary hypothyroidism – experiences from the DGKED/AQUAPE study group for quality improvement in Germany

Abstract

Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study

Abstract

S1-Leitlinie: Tumorgenetik – Diagnostik im Kontext maligner Erkrankungen

Jahresberichte 2021 aus den GfH-Kommissionen und GfH-Arbeitskreisen

Über die Notwendigkeit der Anerkennung von sog. Kernberufsgruppen innerhalb der genetischen Gesundheitsversorgung in Europa

GenomDE und Modellvorhaben – neue Versorgungsstrukturen in der Humangenetik

Aktuelle Nachrichten