Humangenetik am Hauner

Humangenetik am Hauner represents an interface between the treatment of young patients in the hospital and the innovative research here at the Comprehensive Childhood Research Center (CCRC).

The genetic cause of our patients' diseases here at the Dr. von Hauner Children's Hospital is investigated using state-of-the-art sequencing technologies. The resulting human genetic diagnoses are then incorporated into the treatment of the patients. In recent years, well over 5000 patient exomes have been sequenced and a definitive genetic explanation has been found for around 20% of patients. In addition, over a dozen new genetic diseases have been scientifically described for the first time through active translational research at the Hauner. The processes are organizationally bundled as Humangenetik am Hauner and draw on the resources of patient care and technologies at the CCRC, including the laboratories, high-throughput sequencing and the bioinformatics infrastructure - all with the aim of helping children with rare diseases!

Accreditation & Service specifications

The costs of the analyses offered are settled with the statutory health insurance funds in accordance with the doctors' fee schedule. In the case of privately insured patients, the possible assumption of costs by the private health insurance company should be clarified in advance; here, too, invoicing is based on the scale of fees for doctors.

In the flexibly accredited scope of Humangenetik am Hauner, no procedures are currently offered.

As a rule, 4-6 weeks are required for the processing of genome-wide analyses.

We want our patients and their families to be satisfied with our service and therefore welcome any suggestions or criticism that can help us to improve our work. Since Humangenetik am Hauner works mainly for the patients of the Dr. von Hauner Children's Hospital, please communicate your inquiries via your attending physicians at the Dr. von Hauner Children's Hospital. They will be happy to forward your request to us and we will take care of it.

Modellvorhaben Genomsequenzierung

The importance of genomic medicine in medical care has now been widely recognized.

The Modellvorhaben Genomsequenzierung (MV GenomSeq) is the centerpiece of the National Strategy for Genomic Medicine and aims to integrate genomic medicine into German healthcare. In the Gesundheitsversorgungsweiterentwicklungsgesetz (GVWG) of 11.07.2021 (BGBl, 2754), a model project for comprehensive diagnostics and therapy finding using genome sequencing for rare as well as oncological diseases was legally anchored in §64e SGB V.

Goals and benefits:

Early and precise diagnosis: Identification of genetic changes for better treatment.
Personalized therapies: Treatments are specifically tailored to genetic characteristics.
Scientific research: gaining new insights into the connection between genetic changes and diseases.

The Modellvorhaben started clinical application in 2024. It currently involves the cooperation of numerous service providers (more than 25 (university) clinics and medical centers organized in networks) as well as the Spitzenverband der Gesetzliche Krankenversicherungen (GKV-SV) as the funding body. The LMU Klinikum in Munich is one of the locations where rare and oncological diseases are specifically diagnosed, treated and researched using genome sequencing.

The platform of the Modellvorhabens Genomsequenzierung, which is operated by the Bundesinstitut für Arzneimittel und Medizinprodukte (BfArM) as the platform provider, also plays an important role. This makes clinical and genomic data available for both patient care and research. Data is made available on request and is subject to strict controls and meets the highest safety standards.

Links

Humangenetik am Hauner

Human genetics for children with rare diseases

Contact & Team

CCRC Hauner