Getting Genomics into the Clinic: The Patient Experience

Panel discussion on the challenges and opportunities of using clinical genomics in the Australian healthcare system.

In Australia, genetic tests have been available since the 1960s when methods for examining whole chromosomes were developed. At the same time the field of medical genetics began to grow, with the recognition that genetics played a role in many disorders in newborns. Improvements to DNA sequencing methods in 1977 and the invention of PCR (polymerase chain reaction method) in 1985 had significant impacts on the field of molecular genetics and contributed to the discovery of genes that were associated with human diseases (eg. Duchenne Muscular Dystrophy, Cystic Fibrosis and Huntington Disease). Technological advances have been key to both scientific discovery and diagnostic capability.

In 2003 the International Human Genome Sequencing Consortium completed the Human Genome Project which, after 13 years of research at a cost of $2.7 billion, unravelled the DNA sequence of the whole genome from one person. Around 20,000 genes were found coded within human DNA and some of these genes have now been linked to thousands of different genetic disorders. Today, the current DNA sequencing technology makes it possible to sequence all of the DNA (including all of the genes) from one person in a few days for ~$1000. Bioinformatics approaches then arrange and scan the sequence data to find genetic variation that is causative of a human disorder. DNA sequencing technology is still improving and promises to make a positive contribution to field of medical genetics.

Both the federal and state governments have begun preparing for implementing genomics into the clinic. Clinical genomics promises to deliver more rapid diagnosis for people with genetic disorders and to allow informed decision making for treatment and disease management. However, a number of challenges remain. How will genetic testing be funded to ensure equal access to all Australians? How will clinical genomics lead to development of new therapies for the thousands of rare genetic disorders? Will everyone understand what it means for them, and potentially, for their family members? <BR>Partnered with Rare Voices Australia, the discussion will draw upon the experiences of patients and their families who have encountered genetic testing in Australia in the past to inform the future of clinical genomics.