Neuropediatrics 2018; 49(S 02): S1-S69
DOI: 10.1055/s-0038-1676019
Posters
Therapy Strategies and Free Topics
Georg Thieme Verlag KG Stuttgart · New York

P 956. Next-Generation Sequencing in Patient Care—Arrived or Rejected in Rare Diseases?

Angela Abicht
1  MGZ- Medical Genetics Center, Munich, Germany
,
Teresa Neuhann
1  MGZ- Medical Genetics Center, Munich, Germany
,
Stefanie Balg
1  MGZ- Medical Genetics Center, Munich, Germany
,
Daniela Gonzalez-Fassreiner
1  MGZ- Medical Genetics Center, Munich, Germany
,
Verena Steinke-Lange
1  MGZ- Medical Genetics Center, Munich, Germany
,
Kerstin Becker
1  MGZ- Medical Genetics Center, Munich, Germany
,
Brigitte Schönfeld
1  MGZ- Medical Genetics Center, Munich, Germany
,
Yvonne Müller-Koch
1  MGZ- Medical Genetics Center, Munich, Germany
,
Anne Behnecke
1  MGZ- Medical Genetics Center, Munich, Germany
,
Isabel Diebold
1  MGZ- Medical Genetics Center, Munich, Germany
,
Silja Gnann
1  MGZ- Medical Genetics Center, Munich, Germany
,
Elke Holinski-Feder
1  MGZ- Medical Genetics Center, Munich, Germany
› Author Affiliations
Further Information

Publication History

Publication Date:
30 October 2018 (online)

 

Background: In genetic diagnostics, the evolution from single gene analyses to multigene panel analyses, especially for rare genetic diseases, is underway. In July 2016, an amendment to the Einheitlicher Bewertungsmaßstab made it possible to perform genetic analyses using next-generation sequencing within the framework of the German public health insurance system. However, the search for mutations in a sequence coding for more than 25 kilobases (“large gene panels”) was subject to approval by the health insurances and was further restricted over time by an exclusion of a prior small gene panel.

Objective: From a human genetic diagnostic laboratory, we report on the experiences gained with applications, opposition proceedings, approval rates, reasons for refusal, and diagnostic outcomes in the analysis of large gene panels in the context of various rare diseases.

Results: To meet the formal and substantive requirements of the application, up to 20 pages of applications were necessary. A total of more than 150 applications were submitted, all of which were examined by the medical service of the health insurance companies. The refusals were based on both formal and medical arguments, with a therapeutic relevance that was considered missing being listed as a medical argument in most cases. None of the reports was prepared by a specialist in human genetics. The processing period of 5 weeks prescribed by law is generally observed, but objection proceedings can then take months. By analyzing the large panels finally approved, a genetic diagnosis could be made in many cases that were relevant for the patient’s treatment.

Conclusion: For a successful application, an interdisciplinary cooperation is necessary, a meaningful dataset of findings, differential diagnostic considerations, and possible consequences for the treatment of the patient must be presented to the medical service. Similarly, the objection should be sought in the event of improper evaluation by the medical service; in some cases, legal recourse makes sense. The evaluated data on the application procedure makes it understandable why less than 10% of the 40 million euros per year provided by the statutory health insurance funds are currently called up for this diagnosis in Germany. The resistors artificially built up here should not stand in the way of a reasonable treatment of patients with rare diseases.