Six questions with Dr Felicity Collins and Dr Kishore Kumar.

Across our District, clinicians and researchers drive innovation to fulfil our vision of excellence in patient and family centred care.   

The study of our DNA, and what it can tell us about our health, is one of the ways our researchers are helping to transform care.  

That’s what will be up for discussion during a special session on genomics at the Sydney Innovation and Research Symposium on Friday 21 July.     

‘Let's talk about: Genomics in Medicine’ will see leading experts in the field share how their work is impacting patients today.  

We recently caught up with two of these experts, Dr Felicity Collins and Dr Kishore Kumar, to ask them why DNA matters in medicine.   

Six questions with Dr Felicity Collins, Clinical Geneticist, Institute of Precision Medicine & Bioinformatics, RPA Hospital.  

Hi Felicity, tell us a little bit about what you do.   

I'm a Clinical Geneticist at RPA Hospital. We provide a diagnostic and genetic counselling service, evaluating patients and families with potential heritable genetic disorders with prenatal, neonatal, childhood and adulthood presentations of rare diseases.    

What's one recent innovation that has transformed healthcare in your field?   

Prenatal screening of a person’s genes to identify congenital disorders has been around since the 1970s, but increasingly we're moving away from invasive tests with our prenatal patients to screening with maternal blood samples.   

How has this affected prenatal diagnoses?  

Using this genomic testing with our prenatal patients has helped us to increase our detection rate and means our patients and their families are getting answers more quickly. It allows us to give couples accurate and timely results about the health of their baby.      

Wow, what impact does that have on our patients?   

Genomic testing is becoming mainstream in determining what individual therapies may be best suited for someone with a chronic medical condition.   

It has given confidence to many couples about their reproductive health so they can make informed decisions. Occasionally we are faced with unexpected or incidental findings that people may need to stay on top of and for our prenatal patients this might include detecting signs of a hidden cancer in the mother who at that time is asymptomatic.    

What do you most enjoy about the work you're doing?    

It's exciting, and it's wonderful to be able to try and improve health outcomes for people and their families.   

Six questions with Dr Kishore Kumar, Neurologist and Staff Specialist, Concord Hospital, Conjoint Senior Lecturer Medicine, Concord Clinical School.    

Hi Kishore, tell us about the patients you see as a neurologist at Concord Hospital.     

We run two types of clinics. In the Neuromuscular clinic, we see people with all sorts of inherited neurological disorders, including those suspected of having a genetic cause for muscle disorder, loss of coordination and balance, lower limb stiffness, involuntary muscle contractures with abnormal movements and postures, and Parkinson's disease. In the Hereditary Neuropathy Clinic with Professor Steve Vucic and Professor Marina Kennerson, we are purely focused on patients with hereditary peripheral nerve disorders.      

What is one part of your role that you enjoy the most?     

Neurology is one of the specialties where taking a careful history and examining patients is really important, and it's a bit intellectual. There are less procedures in neurology, and it's more thoughtful, it's more like being a detective. The neurological exam can be quite elegant if you do it properly, and that's what's appealing to me.     

How are you using research to identify innovations that will advance patient care?     

My research is all about using advanced genomics to try and improve the diagnosis of patients with inherited neurological disorders. A lot of it is about trying to improve the diagnostic pathway by streamlining it to make it more accurate, effective, cheaper and cost-effective and translating that into the Molecular Medicine Laboratory where I work with our genetic pathologist Dr Anthony Cheong to bring that test into routine clinical practice. One of the advanced genomic techniques we are using is called “long-read sequencing”. I’m also part of a global effort to identify the genetic architecture of Parkinson's disease, which we hope will lead to a change in the way Parkinson’s disease is treated in the future.   

Can you tell us about one breakthrough that has come out of your work with your colleagues?     

Mitochondrial disease can cause health concerns like fatigue, strokes, and seizures and affect our hearing, sight and other organ function. It occurs when there is a problem with the mitochondria, the energy-producing unit of the cell. Mitochondria have their own DNA, called mitochondrial DNA. To test for mitochondrial disease, there are two genomes you have to check, the mitochondrial genome and the nuclear genome, and we developed a pathway using whole genome sequencing to test both genomes in a single test with Professor Carolyn Sue, Dr Ryan Davis, Associate Professor Mark Cowley and team.    

What impact will this have on your patients?     

Our work on mitochondrial disease testing was published in the journal Neurology, and now that test is going to be rebated under Medicare. Without a rebate, the test would cost more than $1,000, but the hope is that it will be readily accessible to everyone under Medicare, improving the diagnosis and recognition of this disorder. That would be amazing, and I think that is the likely outcome.     

Will this change the way they are treated?     

We don’t find that this disorder is curable. The sad thing about neurogenetics is that most disorders aren’t curable. But you can give people answers, tell them what’s going on, and give them a prognosis about what they can expect in the future. Sometimes you can stop unnecessary treatments and investigations. Also, you can often stop inherited disorders from being passed on to their children or their grandchildren, and they’re usually very happy about that. While you can’t cure a person but there are a lot of things you can do to improve their quality of life.   

Register now to attend Sydney Innovation and Research Symposium online.