Abstract
BackgroundIn order to optimally integrate the use of high-throughput sequencing (HTS) as a tool in clinical diagnostics of likely monogenic disorders, we have created a multidisciplinary “Genome Clinic Task Force” at the University Hospitals of Geneva, which is composed of clinical and molecular geneticists, bioinformaticians, technicians, bioethicists, and a coordinator.Methods and resultsWe have implemented whole exome sequencing (WES) with subsequent targeted bioinformatics analysis of gene lists for specific disorders. Clinical cases of heterogeneous Mendelian disorders that could potentially benefit from HTS are presented and discussed during the sessions of the task force. Debate concerning the interpretation of identified variants and the content of the final report constitutes a major part of the task force’s work. Furthermore, issues related to bioethics, genetic counseling, quality control, and reimbursement are also addressed.ConclusionsThis multidisciplinary task force has enabled us to create a platform for regular exchanges between all involved experts in order to deal with the multiple complex issues related to HTS in clinical practice and to continuously improve the diagnostic use of HTS. In addition, this task force was instrumental to formally approve the reimbursement of HTS for molecular diagnosis of Mendelian disorders in Switzerland.
Highlights
In order to optimally integrate the use of high-throughput sequencing (HTS) as a tool in clinical diagnostics of likely monogenic disorders, we have created a multidisciplinary “Genome Clinic Task Force” at the University Hospitals of Geneva, which is composed of clinical and molecular geneticists, bioinformaticians, technicians, bioethicists, and a coordinator
Since the technological and bioinformatics developments of high-throughput sequencing (HTS) and the use of exome sequencing for the discovery of new genes causative of Mendelian disorders [1, 2], this technology has been rapidly and widely integrated in the clinical setting [3] as it outperforms previously used methods in diagnostic yield, time, and cost-effectiveness [4]
We present the composition, practices, and workflow of the Genome Clinic Task Force (GCTF), the results obtained to date, the challenges we have encountered, the reimbursement directives that were officially introduced in Switzerland in January 2015 by the Swiss Federal Office of Public Health (SFOPH), and the lessons learned from this experience
Summary
We have implemented whole exome sequencing (WES) with subsequent targeted bioinformatics analysis of gene lists for specific disorders. Clinical cases of heterogeneous Mendelian disorders that could potentially benefit from HTS are presented and discussed during the sessions of the task force. Debate concerning the interpretation of identified variants and the content of the final report constitutes a major part of the task force’s work. Issues related to bioethics, genetic counseling, quality control, and reimbursement are addressed
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