The disruptive advances in genetics – how has practice changed?
The third meeting in 2021 was conducted remotely using Zoom on Thursday July 1st.
The President Ms Ruth Wraith OAM welcomed members and guests and the Vice President, Prof James Wilkinson AM, then introduced Prof Martin Delatycki, the Medical Director of the Victorian Clinical Genetics Services and Co-Director of the Bruce Lefroy Centre at the Murdoch Children’s Research Institute who spoke to an audience of 33 members and guests who had logged on for this session. He particularly welcomed the presence among the audience of two of his colleagues and mentors in the genetics service and Murdoch Research Institute – Prof Bob Williamson AO and Dr Joh Rogers AM.
He spoke of the spectacular developments over the past ten years during which time testing for genetic abnormalities has moved from single gene testing, involving either nuclear genes or mitochondrial genes, to “whole genome sequencing”. There are now around 6000 genes that are known to be associated with genetic disorders.
An important advance, with major clinical significance, has been Gene Screening for Recessive conditions which can allow antenatal detection of several potentially serious or lethal conditions. Extensive gene testing has been expensive in the past and in many cases has needed families to pay the costs as these have not been covered by Medicare. In the current era many conditions do now allow funding by Medicare for much of the necessary screening.
Approaches to Gene Therapy are also making strides and will potentially allow for gene therapy using viral or other vectors to introduce repair genes by various routes including intrathecal or intraparenchymal (brain) injection. Such therapies may have a role in treating Huntington’s Chorea or Alzheimer’s dementia. Inherited conditions such as spinal muscular atrophy is another very serious condition where gene therapy will potentially have a role in treatment and may have a huge impact on paediatrics in the not distant future.
Such forms of therapy, while promising, are still at an early stage of development.
At the conclusion of the talk there was an active discussion involving a number of participants in the meeting.