We spoke to Dr Ari Horton,MBBS (Hons) FRACP FCSANZ about his experience supporting families with inherited cardiac conditions, his hopes for the future of proactive care and the impact that can have on the heart health of individuals and their families.
I am a paediatric cardiologist and senior clinical genetics fellow. I am passionate about precision- and evidence-based care for children and families with congenital heart disease, inherited cardiac disease and lipid disorders.
Together with my colleagues, I am working towards innovative ways to improve equity of access and introduce genetic testing into the mainstream, whilst advocating for shared-care and multidisciplinary models to best address the needs of Australian and international communities.
Day to day I see how families are able to access this information to empower them to make mindful decisions. It enables clarity, decision making based on their core values and opens up opportunities for preventative healthcare interventions and a focus on overall wellbeing.
I am passionate about the power of community partnerships to guide research that has an impact and can help communities and the healthcare system to better care for each other. I conduct clinical research in cardiac inherited conditions, genetics and rheumatic heart disease.
I believe that in order to improve the heart health of all people we need to increase access to best practice heart care. For this reason I sit on a number of committees for not-for-profit organisations, heart research institutes and I am helping to build health equity in Australia’s indigenous community. When we empower individuals we get care that reflects every aspect of our society and the people we care for.
I am passionate about diversifying research into the genetic markers of heart disease and collaborating with patients and the community to best tailor research and services to their needs and questions.
Cardiovascular and cardiometabolic diseases are the #1 cause of morbidity and mortality in Australia over our lifetime. Over 1 million Australians are living with heart disease, stroke or vascular conditions which equates to a prevalence of approximately 1 in 20. Whilst heart disease is more common among males, compared with females, the genetic causes of heart disease do not discriminate. They affect people of all ages, genders and from all communities. It affects parents and their children. And the risk factors start even before we are born. Genetics plays a major part in this risk, but so does the environment and our lifestyle.
Our overall cardiac risk is highly modifiable and much of this risk is preventable with early recognition and intervention with effective treatment and lifestyle changes. Most heart disease, whether it involves ischaemic heart disease/coronary artery disease, heart muscle disease or heart rhythm disorders has heritable components. It affects many people in the community, but many people remain undiagnosed and their condition unrecognised. When we have the opportunity to identify these risks in you and your family members we can help to increase the knowledge and capacity in the family to live a healthier life.
Families are often surprised when I say that the results of proactive cardiac disease screening are mostly going to be normal and as such very reassuring. Most often no significant genetic changes (called variants) will be identified on the genes included in the panel. Given the huge number of people who remain undiagnosed, this normal result is still important. Any information is a powerful tool to help guide your decisions and help you to make healthy choices. If you have a strong family history of heart disease or heart arrhythmia, you should still consult with a cardiologist to check for symptoms - as these can be monitored or treated.
If testing identifies a significant change in one of the genes that encodes for certain heart conditions, this is critical information both for your care and that of your family members.
If a change is identified, the genetic counsellors, like those that work at Eugene can provide personalised advice for where to seek further information, to ensure you are supported to optimise your heart health in the long term.
Pre-symptomatic or proactive genetic tests can identify a currently asymptomatic (healthy) individual as a carrier of a genetic change that is known to be associated with an increased risk of developing many different types of heart conditions. Given how common these conditions are in the community we need to increase the ways people can find out about their individual and family risks.
For healthy individuals wanting to make proactive decisions to help understand their future health risks it is important to have access to information and support. The process involves discussions of the potential outcomes of testing, the benefits and limitations of the specific test being undertaken and the potential implications including on insurance. You need to feel comfortable that you are making an informed decision, one that is the best for you and your family.
Eugene’s proactive cardiac test is for healthy individuals without a strong family history of known cardiac disease. You should also discuss testing with your loved ones to collect information about anyone in your family who has been affected by a heart condition or has died suddenly. While family history can provide clues as to the likelihood of carrying a gene variant, it is not the only factor to consider. However, if you are found to carry a gene variant there is an increased chance your family members may also carry that variant. It is important to respect the privacy of your family members as many people feel differently about genetic testing but it is important to be open with each other. We always strongly recommend sharing your results with family members as early diagnosis can help empower you and them with information that can improve heart health and may even save the life of a loved one.
If there is a known genetic condition which runs in your family we recommend seeing your local genetics service for specific testing and counselling.
Once a condition is identified in your family it is so important to maintain your follow-up with the people that provide care to you - that way you can work together to continue to support your wellbeing and stay safe. The findings may include conditions that increase your risk of blood clots, stroke, coronary artery disease and heart attacks, heart muscle disorders and heart rhythm conditions that increase your risk of major events.
For any practitioners reading this, it is worth considering how testing with the proactive cardiac testing may help to provide guidance for your patient and their families’ ongoing care. With the predominance of heritable cardiac disease unrecognised in the community utilising testing opportunities can help to unmask potential contributors and tailor the advice you give to your patients.
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