The 100.000 Genomes Project
EHA Library. Ouwehand W. 06/14/17; 185021
Topic: 5E Genetics and molecular biology
Willem Ouwehand
Contributions
Contributions
Learning Objectives
Julián Sevilla - Chair Introduction
The development of next generation sequencing (NGS) for genetic studies is making these diagnostic tests broadly available.
Through this approach, we are able to characterize genetically pathologies with high diagnostic difficulty due to the heterogeneity of the clinical presentation. Dr. A Shimamura in her excellent manuscript will address the diagnosis of a group of diseases characterized by its great heterogenicity: congenital bone marrow failure and myelodysplastic syndromes.
These approaches also allow studies in patients with suspected risk for familiar cancer. Dr. C. Kratz reviews this group of diseases. Through the genetic confirmation we can better understand the risks, the age at diagnosis, or other clinical or biological characteristics of the subject that can help to establish the prognosis.
However, despite these advances, there is still a high percentage of cases in which the diagnosis is not reached, since these approaches only allow us to diagnose those diseases in which the genes involved have been previously described. In the third talk, Professor Ouwehand will explain how to face these cases with an interesting approach based on the clinical and laboratory phenotypic information coded with Human Phenotype Ontology terms, searching for similar genetic bases after whole genome sequencing.
Learning Objectives of the manuscript
After viewing this presentation the participant will be able to:
- Genetic diagnosis for congenital hematological diseases is now broadly available based on NGS.
- Genetics diagnosis is mandatory for patients with congenital hematological diseases, since only by this approach, the diagnosis can be undoubtedly stablished, the best treatment can be offered, and the prognosis can be well defined.
- Exome sequencing should be performed in those patients without diagnosis after NGS. The use of Human Phenotype Ontology will help to classify these patients, grouped them, and guide the diagnosis.
- The NHS 100 000 Genomes Project should be an example of platforms that will allow the study of rare inherited haematological diseases in a feasible and scalable manner.
Learning Objectives of the presentation
After viewing this presentation the participant will be able to:
- New approaches to gene discovery for inherited haematological diseases of unknown molecular aetiology by whole genome sequencing.
- Review of newly identified inherited haematological disorders since the introduction of high throughput sequencing in 2009.
- The application of high throughput sequencing platforms for the comprehensive molecular diagnosis of inherited haematological diseases caused by DNA variants in known genes.
- The need for sharing of genotype and phenotype data via ‘safe-haven’ models.
The development of next generation sequencing (NGS) for genetic studies is making these diagnostic tests broadly available.
Through this approach, we are able to characterize genetically pathologies with high diagnostic difficulty due to the heterogeneity of the clinical presentation. Dr. A Shimamura in her excellent manuscript will address the diagnosis of a group of diseases characterized by its great heterogenicity: congenital bone marrow failure and myelodysplastic syndromes.
These approaches also allow studies in patients with suspected risk for familiar cancer. Dr. C. Kratz reviews this group of diseases. Through the genetic confirmation we can better understand the risks, the age at diagnosis, or other clinical or biological characteristics of the subject that can help to establish the prognosis.
However, despite these advances, there is still a high percentage of cases in which the diagnosis is not reached, since these approaches only allow us to diagnose those diseases in which the genes involved have been previously described. In the third talk, Professor Ouwehand will explain how to face these cases with an interesting approach based on the clinical and laboratory phenotypic information coded with Human Phenotype Ontology terms, searching for similar genetic bases after whole genome sequencing.
Learning Objectives of the manuscript
After viewing this presentation the participant will be able to:
- Genetic diagnosis for congenital hematological diseases is now broadly available based on NGS.
- Genetics diagnosis is mandatory for patients with congenital hematological diseases, since only by this approach, the diagnosis can be undoubtedly stablished, the best treatment can be offered, and the prognosis can be well defined.
- Exome sequencing should be performed in those patients without diagnosis after NGS. The use of Human Phenotype Ontology will help to classify these patients, grouped them, and guide the diagnosis.
- The NHS 100 000 Genomes Project should be an example of platforms that will allow the study of rare inherited haematological diseases in a feasible and scalable manner.
Learning Objectives of the presentation
After viewing this presentation the participant will be able to:
- New approaches to gene discovery for inherited haematological diseases of unknown molecular aetiology by whole genome sequencing.
- Review of newly identified inherited haematological disorders since the introduction of high throughput sequencing in 2009.
- The application of high throughput sequencing platforms for the comprehensive molecular diagnosis of inherited haematological diseases caused by DNA variants in known genes.
- The need for sharing of genotype and phenotype data via ‘safe-haven’ models.
{{ help_message }}
{{filter}}