Here, you will further explore the analytical challenges in genomics as applied to rare inherited diseases along with the principles and practice of medical genetics and genomics. You will learn about approaches in management and treatment of patients and their families, as well as examining the role of genomics in a care pathway, while taking into account patient and family perspectives. The module provides practical examples that highlight how patients with unmet diagnostic need can benefit from whole exome or whole genome sequencing.
Learn from leading experts in genomics about:
- The landscape of common and rare inherited diseases, including definition; prevalence; age of onset; number of rare diseases with identified associated genes; and the number of common diseases with an associated genetic basis.
- Clinical presentation of a range of rare inherited and common diseases.
- Principles and practice in medical genetics, such as risk stratification and management of patients and their families, including cascade testing and clinical surveillance.
- Approaches and techniques used to identify genes responsible for common and rare inherited diseases.
- 100,000 Genomes Project and data infrastructure.
- Tractable cases with unmet diagnostic need suitable for whole genome analysis.
- Analytical challenges in genomics as applied to rare inherited diseases.
- Clinical use of genomic data.
By the end of this module you will be able to:
- Examine a range of common and rare inherited diseases.
- Explain the genetic basis of common and rare inherited diseases.
- Critically evaluate traditional and current approaches used to identify new genes for common and rare inherited diseases.
- Synthesise information gained from whole exome or whole genome analysis with patient information or medical records to determine diagnosis, penetrance or prognosis for a number of examples of common and rare inherited diseases using the available evidence base.
- Evaluate the use of whole genome sequencing in the clinical management of patients in the NHS, including identifying cases suitable for whole genome sequencing.
- Critically evaluate the implications of the clinical use of genomic data in patient care.
- Correlate genetic markers to phenotype and interpret output of association studies both for dichotomous and quantitative traits.