Over the course of the past decade or so, there’s been a huge influx of genomic data due to better and more affordable sequencing technologies. How does anyone make sense of it all? Simon Sadedin joins the show to answer this question and explain his role as a bioinformatician at Victorian Clinical Genetics Services. He talks about the following:
Victorian Clinical Genetics Services perform genetic and genomic testing for patients who have or are at risk of developing rare genetic disorders. The amount of data that can be gathered in this field of work is significant, which can complicate the process of providing patients with easy-to-understand, useful information that applies to their lives and the lives of their loved ones.
This is where bioinformatics aims to be most useful. Sadedin explains the three primary roles of the bioinformatic work he carries out at Victorian Clinical Genetics Services, and explains that the ultimate goal is to improve patients’ experiences and the quality of healthcare on the whole. He also talks about the ways in which it can be a challenge or even impossible to elucidate what a certain genetic or genomic result means for a specific person, the advantages and drawbacks of current versus emerging sequencing technologies, and how useful it is to obtain genomic data from people who are unaffected by certain rare genetic disorders.