Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.
Hum Genomics
; 10(1): 24, 2016 06 28.
Article
em En
| MEDLINE
| ID: mdl-27353043
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 ANDRESULTS:
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Técnicas de Diagnóstico Molecular
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Exoma
/
Doenças Genéticas Inatas
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Aspecto:
Ethics
Limite:
Humans
País/Região como assunto:
Europa
Idioma:
En
Revista:
Hum Genomics
Assunto da revista:
GENETICA
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Suíça