Format

Send to

Choose Destination
Hum Genomics. 2016 Jun 28;10(1):24. doi: 10.1186/s40246-016-0080-4.

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.

Author information

1
Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
2
Department of Genetic Medicine and Development, University of Geneva, 1 rue Michel-Servet, 1211, Geneva, Switzerland.
3
Institute for Ethics, History, and the Humanities, Geneva University Medical School, Geneva, Switzerland.
4
Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland. Stylianos.Antonarakis@unige.ch.
5
Department of Genetic Medicine and Development, University of Geneva, 1 rue Michel-Servet, 1211, Geneva, Switzerland. Stylianos.Antonarakis@unige.ch.
6
iGE3, Institute of Genetics and Genomics of Geneva, Geneva, Switzerland. Stylianos.Antonarakis@unige.ch.

Abstract

BACKGROUND:

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.

METHODS AND RESULTS:

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.

CONCLUSIONS:

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.

PMID:
27353043
PMCID:
PMC4924303
DOI:
10.1186/s40246-016-0080-4
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for BioMed Central Icon for PubMed Central
Loading ...
Support Center