The recently-acquired ability to sequence a person’s whole or partial genome quickly and relatively inexpensively has opened up numerous new avenues for discovery and potential treatment.

While these opportunities have been eagerly seized upon by research scientists, the integration of genomics into routine clinical care has faced some barriers.

Now with support from Sydney Health Partners, researchers have commenced a project to prove the value of genomics in mainstream healthcare, using ocular genomics as the lead project.

Led by University of Sydney Professor of Genomic Medicine, Robyn Jamieson, the Genomic Medicine (GEM) Initiative has piloted integrative eye disease clinics which include genomic variant analysis at the Children’s Hospital Westmead, Westmead Hospital, Save Sight Institute and Nepean Hospital.

“We all have a lot of subtle variations in our genes – they are part of what makes us who we are,” says Professor Jamieson.

“But sometimes it is hard to work out if it’s a subtle variation or a disease-causing variation - and that’s where you have to have the exchange of information between the genetic specialists and the disease specialists to work out the right answer for that patient.”

As part of the research project, a clinical genetics team attends the patient clinics in combination with eye specialists and also takes part in clinical team meetings.

Professor Jamieson says there is clear evidence that by improving integration of genomics into clinical care, patient clinical outcomes are significantly improved.

“This project has demonstrated the value of genomic analysis, by identifying potential genetic therapies and improving the ability of clinicians to provide patients with an accurate prognosis,” she said.

“Once upon a time we had no way of giving patients answers to questions such as ‘am I going to go blind tomorrow, am I going blind in 20 years, is there a treatment for me, and what are the chances of my children inheriting this?”

“Now, there is genetic and genomic information which actually pinpoints the diagnosis and for a lot of patients this can make a huge difference – particularly those for whom there are only one or two underlying genetic variants.”

As part of the GEM Initiative, Professor Jamieson’s research team has developed a patient survey to measure the degree to which eye disease patients value the genomic information they receive and, if a new genomic therapy becomes available, how they feel this would impact their lives.

“Saving vision through new genetic therapies is expected to benefit patient well-being, and in this project we are also determining the impact from a health economic perspective,” she said. 

The third arm of the GEM Initiative is to raise the general level of genomics knowledge of amongst clinicians.

“One of the issues is that this is a very new field of medicine and most clinicians don’t have genomics training,” said Professor Jamieson. “As a result, when the test results come back, they can find them difficult to interpret.”

“There have been a few situations where a report has been interpreted incorrectly and the patient has been told something that is not entirely correct. Accuracy is important because the information can have implications not only for the patient themselves, but also for other family members.”

As part of the research project, the GEM Initiative has collaborated with the University of Sydney to develop a new unit of study called “Genomics in Clinical Practice” which is available as a short course or as part of the Master of Medicine program.

“To me it’s clear that there is a huge educational need to train medical students in genomics,” said Professor Jamieson, “and also doctors in current medical practice.”

“While our research has focussed on the treatment of eye diseases, we are recommending that genomic analysis be integrated into all appropriate clinical areas in order to improve healthcare outcomes generally.”