Clinical analysis of NGS data
Dates: March 16-20, 2020
Location: Grand Hotel Terminus, Bergen
Lecturers: Kim Brügger
Recommended credits: 5 ECTS
Registration deadline: February 24th
Traditionally molecular diagnostic analysis has relied on microarrays, sequencing single genes with capillary sequencing or looking at chromosomes through a microscope. With the revolution of Next Generation Sequencing (NGS) it is now possible to replace many of the tests by sequencing a diagnostic gene panel, all the genes or even the whole genome of a patient in a single experiment. However though NGS analysis is well established in the academic setting, translating this into a clinical services is not a trivial task. This is due to the fact that a wrong diagnosis can lead to no or wrong treatment, or even to the termination of a life! As these consequences of a wrong diagnosis are so dire extra controls and legislation have been put in place to ensure the safety for the patients.
This course will introduce, explore and assess the tools, procedures and requirements needed for making the translation from academic to clinical software. This will be done through a series of lectures and group discussions culminating in a small group project.
Learning outcomes and competence
- Understand the difference between academic and diagnostic software development and deployment
- The accreditation procedure related to ISO 15189 with an emphasis on software development and deployment.
- Be able to perform a validation of a pipeline to ensure it is suitable for diagnostic service
- Generate a gene panel for a rare disease
- Implement, deploy and run a clinical NGS pipeline
Basic knowledge of bioinformatics.
Familiarity with Next Generation Sequencing, and especially DNA analysis pipelines. An knowledge about clinical environments is an advantage.
Tentative course program
Clinical and diagnostic work
Secure computational environments
Standard operation procedures (SOP) Data management
and information tracking
Quality assurance GDPR and legislation Accreditation (ISO) Group project
Final discussion & goodbyes