GPRA Futures Profile: Alan Ma

Alan Ma, Clinical Geneticist and Chief Investigator for the PRECISE MRFF Genomics Research Project, shares how genomics is becoming increasingly relevant to primary care, and how early-career doctors can upskill in this emerging area of medicine.
Check out PRECISE here: https://gpra.org.au/precise 
What are your current roles?

I work as a clinical geneticist at the Children’s Hospital at Westmead in Western Sydney, where I see mainly kids with rare genetic disorders, syndromes, and conditions. I also work as an academic for the University of Sydney where I help deliver a postgraduate Masters program in genomics and precision medicine, and teach med students about genomics, as well as short courses in genomics. 

My research is in implementation of genomics, particularly in primary care and also in tertiary care, and rare disease gene discovery.

How is genomics applicable to general practitioners, including those in rural and remote areas?

Genomics is increasingly relevant to GPs in every area. In pregnancy and planning, all couples can now have Medicare-funded reproductive genetic carrier screening. In cancer, many patients can have genomic testing of their tumours and for cancer predispositions. Many chromosomal and other genetic conditions like haemachromatosis, hypercholesterolemia, thalassemia, cystic fibrosis and Fragile X are now tested in primary care, with Medicare rebates. 

Genomics is relevant throughout a person’s lifespan and increasingly relevant beyond ‘rare’ diseases into common things like high cholesterol, pharmacogenomics, and population carrier screening. For rural GPs, there is a lot less local support for genetics since there are no rural based genetic services, which means they need to handle these even more independently, and we are looking at ways to help our rural GPs upskill rapidly in genomics.

What is your view on how genomics will assist/change general practice in the future? Can you outline your recent research/project that involved co-design with GPs, the next steps for genomics and its application, and the value GPs brought to your research/project?

As I mentioned, genomics is moving beyond the rare. Common diseases like coronary artery disease, depression and asthma all have genetic underpinnings. Polygenic risk is going to be the next big thing in primary care – knowing the polygenic risk for cancer, glaucoma and a host of other common illnesses will help stratify who needs to be screened, aggressively treated, and who is at high or low risk before onset of symptoms, truly delivering ‘personalised’ medicine and lifestyle changes to address these and improve health. 

Currently I’m involved in PRECISE, a project funded by the Medical Research Future Fund to implement genomics into primary care, and we have co-designed Australia’s first and only genomics portal for GPs, with GPs at www.medcast.com.au/genomics. This gives GPs clear guidance on how to do genomic testing, refer appropriately and manage genetic risk in cancer and pregnancy. 

In the future, we hope to expand into pharmacogenomics, which is increasingly relevant.  Working with GPs and education platforms like Medcast, which will be coming to Best Practice soon, was so enlightening – in teaching us what GPs need and want, and how they want this delivered. We are currently evaluating our program with GPs with surveys and paid interviews. If you are interested, please use the attached flyer to sign up!

What do you think needs to change in Australian health systems for genomics to become part of a GP’s practice?

There needs to be less fragmentation of care and better systems that talk to each other so a person’s genomic data can move between sectors, states, and cities. There needs to be curriculum reform (RACGP is working on a new genetic curriculum!) so that future doctors will learn about genomics and its increasing role in practice. 

There needs to be better links between genetic services, which are mainly in tertiary hospitals, with public health and primary care, including new models like embedded genetic counsellors and more private options.

If you are a GP, registrar or New Fellow, how can you best educate or upskill in this area of medicine? 

There are a few things. Firstly, check out our portal at Medcast. Secondly, we run short courses at the University of Sydney on genomics, and finally, I’m trying to set up a RACGP Special Interest Group (SIG) in genomics and precision medicine! 

If any readers are interested in joining the SIG, please let me know as we’re trying to reach a quorum. You don’t need to be an expert in genomics, just interested and willing to participate. Please contact me at alan.ma@sydney.edu.au if you want to join!

In 10 years’ time, how do you hope GPs will be engaging with genomics? What will be the benefits to patients?

This will just be part of standard practice. Hopefully they will have new tools such as AI and single patient records to help decipher and reveal patients’ genomic data and impact on health. 

Patients will know their genomic profile, risks for common (and rare) conditions, medication reactions, and receive holistic, lifelong care from GPs empowered to manage their risks and prevent diseases before they happen.

Check out PRECISE here: https://gpra.org.au/precise