A roadmap to routine care

How do different medical specialties take on genomics? We present three models of service delivery, road-tested in paediatrics, nephrology and oncology.

Genomics is transforming patient care in multiple ways: from pinpointing the cause of a chronic disease, to determining whether a medication will work or fail for each individual patient.

But genomics remains unused in many areas where its benefits have already been proven.

The State of Genomic Care summit brought healthcare leaders, clinicians, advocates and policymakers together to explore why this is happening and what can be done about it.

Prof Kerryn Ireland-Jenkin from Austin Health led a session that explored ways to bring genomics expertise into different medical specialties, drawing out common insights, barriers and solutions.

Genomics in paediatrics

Paediatricians in Australia can order Medicare-funded exome tests for eligible patients, but were not doing so at expected rates. Dr Emma Weisz, a paediatrician working with Melbourne Genomics, discussed why.

“We learned it was perceived to be beyond the scope of practice and too time-consuming for general paediatricians to adopt into their practice. There was no known pathway for support.”

Dr Weisz outlined key interventions aimed at increasing the use of genomic testing: an online step-by-step guide to ordering a genomic test, with links to accredited test providers; and an experiential learning clinic that helped paediatricians get hands-on experience with patient identification, test ordering, and communicating results.

Genomics in nephrology

Dr Kushani Jayasinghe from Monash Health described how genomics became standard practice within nephrology in Victoria. She presented an evolving model of care: beginning with specialist renal genetics clinics, and then using these clinics to facilitate adoption of genomic care at multiple peripheral sites

Three interventions were key to the success of this model: ‘genomics champions’ within nephrology; a fortnightly multidisciplinary team meeting open to any nephrologist in the state; and a suite of decision support tools accessible online.

Genomics in oncology

Dr Kortnye Smith from the Peter MacCallum Cancer Centre explained that genomic testing in cancer aids diagnosis, predicts treatment responses, and identifies targeted therapies.

She outlined models designed to provide equitable access to genomics across different healthcare settings, including ‘local superusers’ who could assist their colleagues, and a central referral model using telehealth to discuss genomic aspects of cancer care.

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What were the success factors?

Although strategies were customised to each specialty, the presenters identified shared success factors.

Co-design

This means involving relevant experts, clinicians and consumers in each step of defining the problem and identifying, developing and testing solutions. Or as Dr Weisz put it, “making sure the people who are going to be using the service are involved in building it.”

Genomics champions

Each presenter identified the crucial importance of ‘champions’ – people from within each specialty who could upskill in genomics and then support and encourage their peers. As Dr Smith said: “We know that the number one facilitator is having a passionate local support person, whether that be a nurse, a registrar, or an oncologist. So somebody on site who is really pushing and advertising and advocating.”

Decision support tools

Tailored to each specialty, these tools served as a handy reference to help clinicians identify patients, order tests and interpret results.

Experiential learning

While education and how-to guides were important, hands-on experience under supervision was central to the wider uptake of genomics.

Discussion of complex cases

Both the nephrology multidisciplinary team and the molecular tumour board enabled clinicians to discuss complex cases with a panel of experts. “What’s important is having someone to turn to when you get information that you don’t know what to do with,” said Dr Smith.

Adapting as you go

“All of our interventions needed to adapt to multiple sites, every one with their own nuances,” said Dr Jayasinghe. Some solutions identified in co-design – like a phone hotline for genetics expertise – proved to be unnecessary in practice.

Leadership and investment

All speakers pointed out the importance of hospital executive supporting genomics, and making an initial investment in models that enable its use. As Dr Smith said: "We need to accept that genomics is real and that it's something that is essential in the way that we treat patients."

Need guidance in defining a model of care? You’ll find it in the Genomics and Your Hospital Toolkit.