by Elisa A. Mahler, Dr. med. Jessika Johannsen, Dr. med. Konstantinos Tsiakas, Dr. med. Katja Kloth, Dr. med. Sabine Lüttgen,
Prof. Dr. med. Chris Mühlhausen, Bader Alhaddad, Dr. med. Tobias B. Haack, PD Dr. med. Tim M. Strom, Dr. rer. nat. Fanny Kortüm,
Prof. Dr. med. Thomas Meitinger, Prof. Dr. med. Ania C. Muntau, Prof. Dr. med. René Santer, Prof. Dr. med. Christian Kubisch,
Dr. med. Davor Lessel, PD Dr. med. Jonas Denecke, and Dr. med. Maja Hempel in issue 12/2019
This article may create the impression in readers that in the presence of a “global developmental disorder,” individual out-of-hospital exome sequencing is covered by German health insurance under EBM fee schedule code number 11514 (1). This assumption is incorrect. In the preamble to chapter 11 of the EBM (the uniform value scale), section 4, the prerequisite for insurance coverage is suspicion of a rare disorder with a maximum prevalence of five in 10 000. Regarding the prevalence of a “global developmental disorder,” the authors name a rate of 1% (100 in 10 000). The compulsory provisions of the EBM rule out human genetic investigation of disorders occurring at such a low prevalence. Encouraging the parents of children with disabilities to apply for healthcare services that aren’t covered by health insurance providers’ defined services, will inevitably lead to disappointment. It is regrettable that readers’ expectations regarding what is covered by the EBM may have been raised as a result of the incorrect explanation/information in the article. Unfortunately the article did not include any mention of support for relevant diagnostic evaluation from the innovation fund of the Federal Joint Committee (G-BA) in the context of the TRANSLATE-NAMSE project; this project runs outside the EBM.
Dr. med. Christoph von Zastrow
|1.||Mahler E A, Johannsen J, Tsiakas K, et al.: Exome sequencing in children—undiagnosed developmental delay and neurological illness. Dtsch Arztebl Int 2019; 116: 197–204 VOLLTEXT|