Possibilities for whole genome sequencing

In this video, Dr Michelle Bishop and Dr Steve Scott consider where we are now and what might be possible in the future. They discuss the advantages of whole genome sequencing and the contribution it could make to the advancement of medicine.

Key advantages they talk about include:

• Whole genome sequencing provides the option to ‘sequence once, interrogate often’. Just because we have the whole genome sequence doesn’t mean that we have to look at it all now. Currently, doctors and scientists are analysing the areas of the genome that they understand, but if the whole genome sequence is already captured they can revisit other areas as we learn more without having to obtain more samples from the patient.

• Now that advances in technology have made whole genome sequencing quicker and cheaper than ever before, we are able to sequence genomes in numbers. This means that scientists are able to compare and identify patterns in order to confidently make links between genes and disease. This will ultimately mean more specific, faster diagnosis and better treatment for patients.

• The detailed, precise analysis that whole genome sequencing affords has resulted in surprising benefits. Scientists wanting to analyse the protein coding regions of the genome only (a process known as whole exome sequencing) have found that they have been able to obtain better results by conducting whole genome sequencing and then just analysing the protein coding region of the genome. The depth and detail of whole genome sequencing is one of its major advantages and is set to improve more in years to come.

In many ways we are still at the very beginning of the journey to understand the genome, but there is no doubt that recent advances in science and technology have been life-changing.