Curing misconceptions: What genomics can really do
From taking trial-and-error out of treatment to managing antibiotic resistance, experts reveal how genomics is changing patient care – right here and now in our hospitals.
Genomics is here to stay and it’s transforming healthcare in many ways.
Incredible progress has been made in the last decade. Genomics has moved from research and clinical trials to standard of care in some specialties. The cost of a genomic test has dropped dramatically, while the time it takes to deliver a result has been slashed from over six months to under two days.
The problem? Many people working in healthcare don’t know this yet.
The State of Genomic Care brought healthcare leaders, policymakers, clinicians and consumers together for a statewide conversation on genomics in Victoria’s hospitals. The first panel discussion, facilitated by journalist Emily Rice, explored how genomics has progressed beyond rare disease, the field for which it is best known.
Taking trial-and-error out of treatment
Clinical geneticist Prof Paul James explained that genomics is changing the way we use medications. “Every time a medication is prescribed, it’s a little bit of an experiment. We think most people will benefit from that medication, there’ll be some people that definitely won’t benefit, and then there’ll be a small group of people for whom it will make things profoundly worse (…) and we’ve just been saying, okay let’s see if we’re lucky this time around.”
Genomic testing, however, can pinpoint the genetic factors that determine how a specific individual responds to a specific medication. “With your genomic information we can make it much more likely that you are actually going to benefit from the medication.”
The use of genomics in medical prescription – a field known as pharmacogenomics – has been well established, most recently to inform how immunosuppressant drugs are given to people who have had organ transplants.
Helping kids thrive without dialysis or transplants
A/Prof Cathy Quinlan showed that early genomic testing can greatly reduce the impact of common chronic diseases.
“I’m a kidney doctor and 10 per cent of the population over the age of 18 has kidney disease. By no stretch of the imagination is that rare,” she said. “It’s the single largest item on the federal budget in terms of routine health care, because many patients will progress to organ failure and needing dialysis, and that’s an enormously expensive intervention.”
But if doctors find the specific genetic cause of kidney disease, they can prescribe specific therapies that delay the need for dialysis and transplantation – or prevent it entirely.
“Usually, we can start kids on a medicine once a day (…) and they just go on about their life taking their medicine and coming to the kidney clinic every 1-2 years and knowing they will probably never experience kidney failure.”
Stopping the scourge of superbugs
A/Prof Norelle Sherry has been called a ‘superbug supersleuth’ for her use of genomics in tracking infectious disease.
“Antibiotic-resistant bacteria are really bad for our patients,” she explained. “They cause increased morbidity, mortality, and increased hospital costs from long stays and lots of complications.”
By sequencing the DNA of bacteria or viruses, hospitals can pinpoint which superbug is spreading, how it is moving, and how to protect vulnerable patients.
Even better, as A/Prof Sherry explains, “You can very quickly identify what antibiotics will and won’t work … so making sure we’re not overusing our super high-powered antibiotics and saving those for patients who really need them.”
Emily Rice opens the panel 
Paul James explains pharmacogenomics 
Norelle Sherry on superbugs
So why isn't genomics used everywhere?
As Prof James explains, the evidence is clear and the technology is ready. “So the barriers are not about knowledge or detail or technology; the barriers are around the fact that it’s something very new. It requires a change in thinking and people to understand it better.”
Where genomics has entered mainstream care, the difference is profound. “Nephrology is definitely flying a flag for how genomics can change our patients’ lives and prevent the worst end of kidney disease,” says A/Prof Quinlan. “If anything’s going to keep me up at night, it’s how can we get that from our specialty to other specialties that have not begun this journey yet?”
A/Prof Quinlan points out that Malawi and other African countries have a different perspective on the value of genomics. “If you have a patient in front of you who needs a test, but you will have to either buy a biopsy needle, gauze and anaesthetic supplies, or you could send a saliva swab overseas and get a genetic result, then that becomes a really different value proposition for healthcare services.
“If we really want to save the healthcare system dollars and we really want to improve outcomes for patients, then delivering genomics early in the piece is the most important thing.”
A/Prof Sherry concurs. “I think it’s an investment to improve patient safety, ultimately. The science is there, and it needs to be as close to the patient as possible.”
Watch next: Road-tested ways to get genomics into every specialty where it’s needed.
Planning for genomics? The Genomics and Your Hospital toolkit can help.