Mar 6, 2020
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:
- How useful bioinformatics is and why it’s become increasingly necessary in recent years
- What types of difficulties and philosophical dilemmas are encountered by clinical geneticists
- How short-read sequencing differs
from long-read sequencing in important ways
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.
For more, visit https://www.vcgs.org.au/ and https://www.mcri.edu.au/.