title: Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.
abstract: 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.
  
  
  
  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. Furthermore, issues related to bioethics, genetic counseling, quality control, and reimbursement are also addressed.
  
  
  
  This 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.
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: S
authors.initials: S
authors.lastname: Fokstuen
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.|Department of Genetic Medicine and Development, University of Geneva, 1 rue Michel-Servet, 1211, Geneva, Switzerland.
authors.forename: P
authors.initials: P
authors.lastname: Makrythanasis
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: E
authors.initials: E
authors.lastname: Hammar
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.|Department of Genetic Medicine and Development, University of Geneva, 1 rue Michel-Servet, 1211, Geneva, Switzerland.
authors.forename: M
authors.initials: M
authors.lastname: Guipponi
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: E
authors.initials: E
authors.lastname: Ranza
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.|Department of Genetic Medicine and Development, University of Geneva, 1 rue Michel-Servet, 1211, Geneva, Switzerland.
authors.forename: K
authors.initials: K
authors.lastname: Varvagiannis
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.|Department of Genetic Medicine and Development, University of Geneva, 1 rue Michel-Servet, 1211, Geneva, Switzerland.
authors.forename: F A
authors.initials: FA
authors.lastname: Santoni
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: M
authors.initials: M
authors.lastname: Albarca-Aguilera
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: M E
authors.initials: ME
authors.lastname: Poleggi
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: F
authors.initials: F
authors.lastname: Couchepin
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: C
authors.initials: C
authors.lastname: Brockmann
authors.affiliation: Institute for Ethics, History, and the Humanities, Geneva University Medical School, Geneva, Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Mauron
authors.affiliation: Institute for Ethics, History, and the Humanities, Geneva University Medical School, Geneva, Switzerland.
authors.forename: S A
authors.initials: SA
authors.lastname: Hurst
authors.affiliation: Institute for Ethics, History, and the Humanities, Geneva University Medical School, Geneva, Switzerland.
authors.forename: C
authors.initials: C
authors.lastname: Moret
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: C
authors.initials: C
authors.lastname: Gehrig
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Vannier
authors.affiliation: Department of Genetic Medicine and Development, University of Geneva, 1 rue Michel-Servet, 1211, Geneva, Switzerland.
authors.forename: J
authors.initials: J
authors.lastname: Bevillard
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: T
authors.initials: T
authors.lastname: Araud
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: S
authors.initials: S
authors.lastname: Gimelli
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: E
authors.initials: E
authors.lastname: Stathaki
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Paoloni-Giacobino
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Bottani
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: F
authors.initials: F
authors.lastname: Sloan-Béna
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: L D'Amato
authors.initials: LD
authors.lastname: Sizonenko
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: M
authors.initials: M
authors.lastname: Mostafavi
authors.affiliation: Department of Genetic Medicine and Development, University of Geneva, 1 rue Michel-Servet, 1211, Geneva, Switzerland.
authors.forename: H
authors.initials: H
authors.lastname: Hamamy
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: T
authors.initials: T
authors.lastname: Nouspikel
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: J L
authors.initials: JL
authors.lastname: Blouin
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland. Stylianos.Antonarakis@unige.ch.|Department of Genetic Medicine and Development, University of Geneva, 1 rue Michel-Servet, 1211, Geneva, Switzerland. Stylianos.Antonarakis@unige.ch.|iGE3, Institute of Genetics and Genomics of Geneva, Geneva, Switzerland. Stylianos.Antonarakis@unige.ch.
authors.forename: S E
authors.initials: SE
authors.lastname: Antonarakis
mesh_terms: D059472:Exome / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing / Q000191:economics / Q000592:standards*; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000191:economics / Q000592:standards*; D011635:Public Health Administration; D012051:Reimbursement Mechanisms; D017422:Sequence Analysis, DNA; D013557:Switzerland