Impact Factor: 1.1

Published since March 20, 2007

Medizinische Genetik

ISSN: 1863-5490

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

Your Benefits

medizinischegenetik is owned and published by the German Society of Human Genetics (GfH).

Co publishers
Austrian Society of Human Genetics (ÖGH)
Swiss Society of Medical Genetics (SGMG)
Professional Association of German Human Geneticists (BVDH)

Your benefits:

Information on new interdisciplinary research approaches and the international dialogue in the fields of human genetics
Renowned editors and authors
Issues with main focus on special aspects in clinical genetics, syndromal disorders, new technical aspects of genetic diagnostics
Information on events concerning clinical genetics
Print- and online publication

History

medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter.

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Supplementary Materials

Topics

Volume 35 Issue 4

December 2024

Publicly Available December 5, 2023

Frontmatter

Page range: I-III

Download PDF

MAIN TOPIC Liquid Biopsies

Open Access December 5, 2023

Liquid Biopsy: minimal-invasive analysis of somatic alterations

Ariane Hallermayr

Page range: 199-200

Download PDF

Open Access December 5, 2023

The changing face of circulating tumor DNA (ctDNA) profiling: Factors that shape the landscape of methodologies, technologies, and commercialization

Abel J. Bronkhorst, Stefan Holdenrieder

Page range: 201-235

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Abstract

Liquid biopsies, in particular the profiling of circulating tumor DNA (ctDNA), have long held promise as transformative tools in cancer precision medicine. Despite a prolonged incubation phase, ctDNA profiling has recently experienced a strong wave of development and innovation, indicating its imminent integration into the cancer management toolbox. Various advancements in mutation-based ctDNA analysis methodologies and technologies have greatly improved sensitivity and specificity of ctDNA assays, such as optimized preanalytics, size-based pre-enrichment strategies, targeted sequencing, enhanced library preparation methods, sequencing error suppression, integrated bioinformatics and machine learning. Moreover, research breakthroughs have expanded the scope of ctDNA analysis beyond hotspot mutational profiling of plasma-derived apoptotic, mono-nucleosomal ctDNA fragments. This broader perspective considers alternative genetic features of cancer, genome-wide characterization, classical and newly discovered epigenetic modifications, structural variations, diverse cellular and mechanistic ctDNA origins, and alternative biospecimen types. These developments have maximized the utility of ctDNA, facilitating landmark research, clinical trials, and the commercialization of ctDNA assays, technologies, and products. Consequently, ctDNA tests are increasingly recognized as an important part of patient guidance and are being implemented in clinical practice. Although reimbursement for ctDNA tests by healthcare providers still lags behind, it is gaining greater acceptance. In this work, we provide a comprehensive exploration of the extensive landscape of ctDNA profiling methodologies, considering the multitude of factors that influence its development and evolution. By illuminating the broader aspects of ctDNA profiling, the aim is to provide multiple entry points for understanding and navigating the vast and rapidly evolving landscape of ctDNA methodologies, applications, and technologies.

Open Access December 5, 2023

Clinical application of circulating tumor cells

Nikolas H. Stoecklein, Julia Oles, Andre Franken, Hans Neubauer, Leon W.M.M. Terstappen, Rui P.L. Neves

Page range: 237-250

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Abstract

This narrative review aims to provide a comprehensive overview of the current state of circulating tumor cell (CTC) analysis and its clinical significance in patients with epithelial cancers. The review explores the advancements in CTC detection methods, their clinical applications, and the challenges that lie ahead. By examining the important research findings in this field, this review offers the reader a solid foundation to understand the evolving landscape of CTC analysis and its potential implications for clinical practice. The comprehensive analysis of CTCs provides valuable insights into tumor biology, treatment response, minimal residual disease detection, and prognostic evaluation. Furthermore, the review highlights the potential of CTCs as a non-invasive biomarker for personalized medicine and the monitoring of treatment efficacy. Despite the progress made in CTC research, several challenges such as standardization, validation, and integration into routine clinical practice remain. The review concludes by discussing future directions and the potential impact of CTC analysis on improving patient outcomes and guiding therapeutic decision-making in epithelial cancers.

Open Access December 5, 2023

Clinical applications and challenges in the field of extracellular vesicles

Jillian W.P. Bracht, Rienk Nieuwland, Agustin Enciso-Martinez

Page range: 251-258

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Abstract

Body fluids contain cell-derived particles called extracellular vesicles (EVs). EVs are released by cells and are present in all body fluids (i. e. liquid biopsies). EVs contribute to physiology and pathology and offer a plethora of potential clinical applications, ranging from biomarkers to therapeutic applications. In this manuscript we provide an overview of this new and rapidly growing research field, along with its challenges and opportunities.

Open Access December 5, 2023

Liquid biopsy-based early tumor and minimal residual disease detection: New perspectives for cancer predisposition syndromes

Lena Bohaumilitzky, Johannes Gebert, Magnus von Knebel Doeberitz, Matthias Kloor, Aysel Ahadova

Page range: 259-268

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Abstract

Genetic predisposition is one of the major measurable cancer risk factors. Affected patients have an enhanced risk for cancer and require life-long surveillance. However, current screening measures are mostly invasive and only available for certain tumor types. Particularly in hereditary cancer syndromes, liquid biopsy, in addition to monitoring therapy response and assessing minimal residual disease, holds great potential for surveillance at the precancerous stage and potentially even diagnostics. Exploring these options and future clinical translation could help reduce cancer risk and mortality in high-risk individuals and enhance patients’ adherence to tailored surveillance protocols.

Open Access December 5, 2023

Liquid biopsies and those three little words: finding the perfect match for the MTB

Adam Wahida, Lars Buschhorn

Page range: 269-273

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Abstract

Monitoring ctDNA by liquid biopsies seems to represent the perfect match for precision oncology and its cornerstone clinical framework: the molecular tumour board (MTB). Detecting and scrutinising the success of targeted therapies or tracking and, for that matter, addressing the therapy with the evolutive nature of a tumour are some of the main advancements one considers to be important for the MTB. One challenge is correlating the estimated allele frequency of each identified genetic alteration determined by analysing the ctDNA sequencing results and matching these with the range of suitable drugs, which may limit the simultaneous treatment of all tumour variations. This limitation arises because a new biopsy would typically be required to evaluate the response to treatment. As a result, evaluating the success of MTB recommendations relies on traditional staging methods, highlighting an existing diagnostic gap. Thus, optimising liquid biopsy technology could enhance the efficacy of MTB treatment recommendations and ensuing tailored therapies. Herein, we discuss the prospect of ctDNA analyses in the molecular tumour board.

Open Access December 5, 2023

The utility of liquid biopsy in clinical genetic diagnosis of cancer and monogenic mosaic disorders

Ariane Hallermayr, Thomas Keßler, Verena Steinke-Lange, Ellen Heitzer, Elke Holinski-Feder, Michael Speicher

Page range: 275-284

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Abstract

Liquid biopsy for minimally invasive diagnosis and monitoring of cancer patients is progressing toward routine clinical practice. With the implementation of highly sensitive next-generation sequencing (NGS) based assays for the analysis of cfDNA, however, consideration of the utility of liquid biopsy for clinical genetic testing is critical. While the focus of liquid biopsy for cancer diagnosis is the detection of circulating tumor DNA (ctDNA) as a fraction of total cell-free DNA (cfDNA), cfDNA analysis reveals both somatic mosaic tumor and germline variants and clonal hematopoiesis. Here we outline advantages and limitations of mosaic and germline variant detection as well as the impact of clonal hematopoiesis on liquid biopsy in cancer diagnosis. We also evaluate the potential of cfDNA analysis for the molecular diagnosis of monogenic mosaic disorders.

Open Access December 5, 2023

Non-invasive prenatal testing: when results suggests maternal cancer

Liesbeth Lenaerts, Miel Theunis, Frédéric Amant, Joris R. Vermeesch

Page range: 285-295

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Abstract

It is now well-established that non-invasive prenatal testing (NIPT), originally designed to screen cell-free DNA (cfDNA) in maternal blood for the presence of common fetal trisomies, can lead to incidental detection of occult maternal malignancies. Retrospective evaluations have demonstrated that the detection of multiple copy number alterations in cfDNA is particularly suggestive of an incipient tumor and that cancer detection rates not only depend on tumor biology but also on applied NIPT technologies and downstream diagnostic investigations. Since the identification of a maternal cancer in pregnancy has implications for both woman and the unborn child, prospective studies are needed to provide evidence on best clinical practices and on clinical utility in terms of patient outcomes.

BERICHTE AUS DER HUMANGENETIK

Personalia

December 5, 2023

Nachruf Prof. Dr. med. Michael Speicher

Sarah Verheyen, Ellen Heitzer, Jochen Geigl

Page range: 297-298

December 5, 2023

Nachruf Prof. Dr. rer. nat. Jeanette Erdmann

Markus M. Nöthen, Malte Spielmann

Page range: 299-300

December 5, 2023

Nachruf Prof. Dr. med. Wilko Weichert

Brigitte Schlegelberger

Page range: 301-301

December 5, 2023

Ein Geburtstagsgruß für Hans-Hilger Ropers

Thomas F. Wienker

Page range: 303-305

Stellungnahmen und Leitlinien

December 5, 2023

Deutsche Gesellschaft für Humangenetik e.V. (GfH)

23.10.2023 Stellungnahme der Deutschen Gesellschaft für Humangenetik zum Umfang der genetischen Pränataldiagnostik bei auffälligen Ultraschallbefunden

Page range: 307-311

December 5, 2023

Deutsche Gesellschaft für Humangenetik e.V. (GfH)

24.10.2023 Stellungnahme der Deutschen Gesellschaft für Humangenetik zu Zusatz- und Zufallsbefunden in der genetischen Diagnostik

Page range: 313-321

GfH-Verbandsmitteilungen

December 5, 2023

Syndromtag 2023 in Aachen vom 22.–23. September

Transition und Translation: Aktuelle Herausforderungen der Klinischen Genetik

Page range: 323-324

December 5, 2023

Frank-Majewski-Preisträgerin 2023

Page range: 325-326

December 5, 2023

Die GfH-Juniorakademie 2023 – #GfHJAK23 @schlossbuchenau

Ilona Krey, Simone Ahting, Andreas Forstner, Maria Korte, Robert Meyer, Franziska Schnabel, Daniel Pieh, Maike Karnstedt

Page range: 327-330

December 5, 2023

Tagungsbericht SSIEM Jahrestagung vom 29.08.2023 bis 01.09.2023 in Jerusalem

„Where East Meets West“

Lea Dewi Schlieben

Page range: 331-332

December 5, 2023

Tagungsbericht Kongress für Kinder- und Jugendmedizin 20. bis 23. September 2023 in Hamburg

Page range: 333-333

December 5, 2023

Ausschreibung Humangenetik-Promotionspreis 2024

Page range: 335-335

December 5, 2023

36. Tumorgenetische Arbeitstagung

2.–4. Mai 2024, Volpriehausen bei Göttingen

Page range: 337-337

December 5, 2023

Wie ist die Weiterbildungssituation der NaturwissenschaftlerInnen in der Humangenetik in Deutschland, und wie erreichen wir eine staatliche Anerkennung der Weiterbildung zur/zum FachhumangenetikerIn?

Yvonne Lisa Behrens, Ronja Hollstein, Nina Ishorst, Annette Lischka, Lisa Sindermann

Page range: 339-350

BVDH-Verbandsmitteilungen

December 5, 2023

Die staatliche Anerkennung der/des „Fachhumangenetiker/in (GfH)“ ist überfällig

Page range: 351-352

December 5, 2023

Die humangenetische Beratung ist mit den aktuellen Vergütungsstrukturen nicht mehr zu erbringen: KollegInnen, die nur humangenetische Beratung anbieten, müssen ihre Praxen schließen!

Page range: 353-354

Aktuelle Nachrichten

December 5, 2023

Akademie Humangenetik

„Die genetische halbe Stunde – Basiskurs klinische Genetik“

Page range: 355-355

Volume 35 (2023)

Volume 34 (2022)

Volume 33 (2021)

Volume 32 (2020)

Volume 31 (2019)

Volume 30 (2018)

Volume 29 (2017)

Volume 28 (2016)

Volume 27 (2015)

Volume 26 (2014)

Volume 25 (2013)

Volume 24 (2012)

Volume 23 (2011)

Volume 22 (2010)

Volume 21 (2009)

Volume 20 (2008)

Volume 19 (2007)

Journal Impact Factor	1.1	2022, Journal Citation Reports (Clarivate, 2023)
5-year Journal Impact Factor	1.2	2022, Journal Citation Reports (Clarivate, 2023)
Journal Citation Indicator	0.15	2022, Journal Citation Reports (Clarivate, 2023)
CiteScore	0.9	2022, Scopus (Elsevier B.V., 2023)
SCImago Journal Rank	0.240	2022, SJR (Scimago Lab, 2023; Data Source: Scopus)
Source Normalized Impact per Paper	0.154	2022, CWTS Journal Indicators (CWTS B.V., 2023; Data Source: Scopus)

More information about journal rankings

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Original Articles, Reviews, conference reports, association announcements, personnel matters, statements, guidelines, historical retrospectives and comments on current developments

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Editorial

Editor In Chief
Markus Nöthen, Universitätsklinikum Bonn AöR, Germany

Co-Editors
Ute Felbor, Universitätsmedizin Greifswald, Germany
Christian Netzer, Universitätsklinikum zu Köln, Germany
Reiner Siebert, Universitätsklínikum Ulm, Germany
Dagmar Wieczorek, Heinrich-Heine-Universität Düsseldorf, Germany

Editorial Staff (GfH Managing director)
Anja Rössler, Berlin, Deutschland

Graphic Design
Brigitte Fiedler (GfH) Munich, Germany

Scientific Editorial Board
Nuria Brämswig, Uniklinik Essen, Germany
Frank Kaiser, Uniklinik Essen, Germany
Hildegard Kehrer-Sawatzki, Universitätsklinikum Ulm, Germany
Ingo Kurth, Universitätsklinikum der RWTH Aachen, Germany
Deborah Bartholdi, Bern (SGMG), Inselspital Bern, Switzerland
Michael Speicher, Graz (ÖGH), Medizinische Universität Graz, Austria

Owned and published by the German Society of Human Genetics (GfH)

Co-Publishers
Austrian Society of Human Genetics (ÖGH)
Swiss Society of Medical Genetics (SGMG)
Professional Association of German Human Geneticists (BVDH)

(Deutsch)

Online ISSN: 1863-5490
Print ISSN: 0936-5931
Type: Journal
Language: Multiple languages
Publisher: De Gruyter
First published: March 20, 2007
Publication Frequency: 4 Issues per Year