Correspondence (reply): In Reply

We thank Dr. von Zastrow for his correspondence, especially since he highlights the lack of clarity around the funding of exome sequencing.

It was not the intention of our article to explore the funding options for exome sequencing (1).

We are, however, perfectly aware that for many colleagues who provide healthcare to patients with suspected genetic disorders, this is a question of central importance.

It is correct that the EBM covers fee schedule code number 11514 under the proviso that genetic diagnostic evaluation was undertaken if a rare disorder was suspected. Undoubtedly, those genetic disorders underlying the clinical characteristic of global developmental disorder are rare. This is shown in our study, which found 20 different genetic diagnoses in 21 patients whose disorder was diagnosed; many international studies support this finding. The requirement of a suspected rare disorder is thus met. In spite of this, an application for reimbursement under EBM fee schedule number 11514 will usually be refused by statutory health insurers. We did mention this in our article (1).

The presented study did not take recourse to the time-limited national innovation fund project TRANSLATE-NAMSE. This project is not the answer to the need for creating a funding structure for indicated exome sequencing that is secure in the long term.

In our opinion, what is urgently required is the creation of appropriate structural and financial conditions so as to enable patients with undiagnosed diseases to access interdisciplinary treatment, including comprehensive phenotyping and wideranging genetic diagnostic evaluation. In many places, centers for rare diseases already provide the clinical structures. However, funding for diagnostic evaluation has not yet been secured.