Diagnostics of rare diseases with next generation sequencing—arrived at the patients or rejected? Diagnostik seltener Erkrankungen mit „next generation sequencing“ – angekommen oder abgewehrt?

Abicht A, Neuhann T, Mehnert L, Rost I, Wiesmann da Silva Reis A, Zweier C, Holinski-Feder E (2019)

Publication Type: Journal article, Review article

Publication year: 2019

Journal

Medizinische Genetik Berufsverband Medizinische Genetik e.V.

DOI: 10.1007/s11825-019-00258-3

Abstract

In genetic diagnostics, the path goes from single-gene testing to gene-panel analyses, especially for rare genetic diseases. In July 2016, an amendment to the EBM (Einheitlicher Bewertungsmaßstab, Regulations on Fees for Statutory Health Insurance) introduced the possibility of performing genetic analyses using next-generation sequencing (NGS) on patients with rare diseases. However, the mutation search in a sequence encoding more than 25 kilobases (kb) was subject to approval by the health insurance funds and was further restricted over time by a billing exclusion for a previous analysis of individual genes of less than 25 kb. We report from the diagnostic laboratories of the Bavarian State Association of the BVDH (Berufsverband Deutscher Humangenetiker e. V.) on the experiences we have gained with the application procedures, the objections, the approval rate, the reasons for rejection and the diagnostic outcome in the analysis of large gene panels for various rare disorders. In the survey period of seven quarters, a total of 314 applications were prepared in four diagnostic laboratories to justify an application according to GOP (Gebührenordnungsposition, fee schedule position) 11514, all of which were reviewed by the MDK (Medizinischer Dienst der Krankenkassen; Medical Service to Health Insurance Funds). 71% of the applications were rejected. A total of 95 applications (29%) were approved, but in some cases only after up to five objections. The rejections were based on both socio-medical and formal criteria, whereby in most cases a therapeutic relevance considered to be lacking was used as a socio-medical argument. The approved comprehensive NGS analyses made it possible to make a genetic diagnosis in more than 30% of the patients examined, which was relevant to treatment in two thirds of the cases. In summary, the conditional approval of an NGS analysis according to GOP 11514 and the resulting obstacles hinder the medically necessary and useful diagnostics in the care of patients with rare diseases.

Authors with CRIS profile

André Wiesmann da Silva Reis Lehrstuhl für Humangenetik Christiane Zweier Medizinische Fakultät

Involved external institutions

genetikum – Genetische Beratung & Diagnostik DE Germany (DE) Medizinisch Genetisches Zentrum (MGZ) / Medical Genetics Center DE Germany (DE)

How to cite

APA:

Abicht, A., Neuhann, T., Mehnert, L., Rost, I., Wiesmann da Silva Reis, A., Zweier, C., & Holinski-Feder, E. (2019). Diagnostics of rare diseases with next generation sequencing—arrived at the patients or rejected? Diagnostik seltener Erkrankungen mit „next generation sequencing“ – angekommen oder abgewehrt? Medizinische Genetik. https://doi.org/10.1007/s11825-019-00258-3

MLA:

Abicht, Angela, et al. "Diagnostics of rare diseases with next generation sequencing—arrived at the patients or rejected? Diagnostik seltener Erkrankungen mit „next generation sequencing“ – angekommen oder abgewehrt?" Medizinische Genetik (2019).

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