Genomics industry researchers, planners and policy makers, clinicians and consumer representatives met in Canberra (October 2022) for InGeNA’s roundtable planning session to advance precision health in Australia by 2030.
InGeNA members and stakeholders joined in to share their experiences and contribute to the important conversations around building public and consumer trust and awareness, workforce needs, the complexities of governance, data quality, privacy and some major goals for national infrastructure including clinical implementation.
Some of the roundtable conclusions were:
- There had been real value from bringing together participants from across the sector to share their stories and learn from each other about areas outside their direct experiences
- There was a perceived need to leverage existing investments made by governments and others to expedite the application of clinical genomics and reduce duplication
- We need to continue investing in a confident and capable workforce to allow us to benefit from emerging technologies and deliver services to patients
- There is an ongoing need to engage all stakeholders across the sector to ensure that access to precision health is equitable and this can be supported through increased communication, collaboration and consistency
- There were opportunities to remove costs from the healthcare system through appropriate application of precision health
Video Introduction from Katherine North
Patient Advocate Presentation
Monica Ferrie, CEO of the Genetic Support Network of Victoria, is InGeNA’s consumer representative. Monica presented the words below to kick off the Roundtable with a reminder of why genomics is so important to Australia and Australians.
Read Monica Ferrie's Presentation:
Thank you David and also thank you to Kathryn who as always finds a way to cut through to capture and focus our attention. I’d like to remind everyone, why today is important.
We shall go on to the end, we shall fight on the seas and oceans, we shall fight in the air, whatever the cost, we shall fight on the beaches, we shall fight on the landing grounds, we shall fight in the fields and in the streets, we shall fight in the hills; we shall never surrender.
You are probably familiar with this quote, Winston Churchill said this in 1940 and united Britain with values of shared resilience, and courage. They would fight together, in a fight for their lives and for their way of life, a community bound by shared responsibility and experience. We are not at war, but we are bound by shared responsibility and experience.
If something or someone threatened our families, these words would resonate in our hearts and souls and ignite our fight. Its humbling to realise that our loved ones feel the same about us. It unites us, this need to protect those we love, to want the very best for them, to rise above what exists, to share the responsibility for the fight and outcome.
Many years ago it was my privilege to work on the Victorian Charter of Human Rights and Responsibilities. I’ve always loved that the charter recognised that we should expect to be able to exercise our human rights and also that we have a responsibility to ensure that others can exercise theirs. The UN General Assembly in December 2021 specifically recognised the rights of people living with rare disease to have the highest attainable standard of physical and mental health and to have access to a standard of living adequate for the health and well- being of oneself and one’s family.
Precision healthcare is a lever to the equitable pursuit of these rights for every person, it brings hope for those fighting for the health, wellbeing and happiness of their loved ones. It’s not the only lever but it is the one which we here together can influence. There are millions of Australians whose lives we discuss today. Sounds very dramatic I know but we have waited long for the realisation of hope and possibility. It cannot come soon enough.
The human genome project was completed in 2003 and precision medicine ideas originated 20 years ago. It is undeniable that the vast number of scientific advancements that have been made within the field of genomics have allowed for the field of precision medicine to transition from a previously hopeful fantasy to an impactful reality, but where and for whom.
Despite this, access to testing, trials, treatment and support remains inequitable across geography, cultural and socio- economic groups. In rare disease, on average, a correct diagnosis takes 8 physicians, 2-3 misdiagnosis and 7.6 years. 30% of children affected by a rare disease die by the age of 5 years.
We know that our genomics have a 30% impact as a determinant of our health. Research today informs those rare genetic diseases impact more than 60% of our population and more than 2,000,000 people in Australia are living with rare disease — more than diabetes and cancer combined.
We also know that up to 10% of cancers are hereditary cancers.
Only 5% of rare disease have available treatment and yet even for those we wait and wait for approvals, affordable access.
International research tells us that 1 out of 3 childhood admissions to the ICU have an underlying genetic condition.
Every one of these things that we know leads to significant social, emotional and economic burden to individuals, families and the healthcare system.
Precision medicine in literature has been defined as a novel approach for disease treatment and prevention that considers the genetic information, environment and lifestyle of each patient to ultimately establish specific strategies based on these factors and eliminating unnecessary diagnostic testing and therapies.
More basically, Precision healthcare is often expressed as the right treatment for the right patient at the right time but in implementation, it must be viewed as so much more than that. It is the choice of the right test with the right support for the right patient at the right time, the delivery of the right treatment with the right support for the right patient at the right time and the right support post treatment or the right re-testing at the right time.
For precision healthcare to deliver the ‘right’ result, it cannot be simply about the clinical experience for the patient. There are a lot of ‘rights’ in that statement so who determines what is right. Everyone in this room has a role to play in its delivery but at the centre must be the patient. And the patient as an equal participant in their health journey and decision making. Patient centred care is not about putting the patient in the centre so experts can circle around with the best of intentions making decisions that are believed to be in the patient’s best interests.
Precision healthcare by definition is more holistic than that.
Precision healthcare is not about technologies and infrastructure, data and process, medicines and treatments. It’s about people. We are about to embark on a day of discovery, a day of discussion and the beginning of new relationships. What we achieve here must be anchored by the needs of patients, families and communities. Every discussion must be underpinned by asking — will this produce better outcomes for patients, will this bring improved quality of life.
This isn’t a day of perfection or certainty, so as a friend of mine who happens to be here today once said, this requires egos left at the door, special interests and agendas at the door and disease types and condition expertise at the door. Today we come together in partnership to progress the impact that precision health is having, can have and will have on people and their families.
Today we are all representatives of the people but we have some expert voices to bring the patient voice to each of our discussion topic areas and I’d like to introduce them to you. I’ll let you to figure out who I was quoting. I welcome
Paige Preston: Paige is Advocacy and Policy Senior Manager at Lung Foundation Australia and has extensive policy as well as academic experience.
Jo Root: Jo is the Policy Director at Consumer Health Forum. Jo has been involved in Health policy since 1990 and is passionate about the consumer voice and advocating for patients.
Dr Kris Elvidge,. With more than 20 years in the research field – five of those in the childhood dementia sphere Kris’s expertise, working closely with people impacted by Childhood Dementia lies in enabling medical research organisations to invest in the best science to develop effective therapies.
Bruce Goodwin is a Director of Rare Cancers Australia, a charity dedicated to rare cancer awareness and support and with a purpose to improve the lives and health outcomes of Australians living with rare and less common (RLC) cancers.
Together, we have the privilege of sharing our lives and our work with people and families who we fight for, who hope for change and improved quality of life from advances in genomics and precision healthcare. We, like our community have travelled different paths, and today our voice represents the diversity and common experience of the patient and community voice and we are looking forward to joining our voices with all of yours.
As you are aware there are 5 keys areas for discussion. Each one focused on areas critical to the implementation and optimisation of precision health care. Each table has a range of experience and perspectives to challenge what we know and what we do and to look to the future. The risk is that we will all enjoy a stimulating discussion, without a personal commitment to action. We’ll find ourselves asking the same questions in a year’s time. Whether today is a beginning or progression, it cannot end here. We must commit to change and collaborating for change that will make a difference to people’s lives and possibilities.
Thank you to lnGeNA for bringing us all here together, to actively explore what success looks like and the path to achieve it. The price of inaction is too high as our patient community continues to pay with their lives in length or quality. Today we bring the fight to you, we ask you to join us to overcome what can seem like insurmountable odds. We can’t do it alone, none of us can. We need each other to realise the potential of precision medicine. Today we are at the front and just like 82 years ago, as Winston Churchill also said, a collaborative and continuous effort, not strength or intelligence is the key to unlocking our potential.
These discussion papers were circulated to attendees ahead of the roundtable, as preparation for the conversations on each themed table.