Skip to 0 minutes and 11 secondsHello, and welcome to week three of the genomics revolution. This week we will focus on how advances in genetic technology are revolutionising our ability to read the human genome, and offer unprecedented opportunities to utilise genomic data for health care purposes. We will discuss some of the challenges which result from our ability to read the human genome, and particularly when trying to interpret which genetic variants can lead to disease and require clinical action. By the end of the week, you will have a knowledge of the genetic tests which can be undertaken in this new era of genomics, as well as the type of information which each test can and cannot give.
Skip to 0 minutes and 50 secondsMost importantly, as these technologies are integrated into mainstream health care services, we hope that this week will enable you to feel confident that you understand the clinical implications of a cytogenetic or molecular genetic report in your own clinical practice.
Welcome to Week 3
Course educator, Dr Katie Snape, introduces the main themes of Week 3 and looks at how emerging genetic technologies have the ability to transform the use of genomic data for healthcare purposes.
By the end of this week, you will be able to:
- Discriminate between the different technologies used to interrogate the human genome.
- Distinguish the types of genetic variation which can be identified by different technological approaches.
- Recognise the complexities in the interpretation of genomic data identified through next-generation sequencing approaches.
- Evaluate a genetic report which discriminates between genetic variation known to cause disease and that which is benign or requires further evaluation.
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