Insights: Adult preventive genomics



What is adult preventive genomics?

'Genomics' is the study of an individual's genetic makeup and how it relates to their health and disease. 'Preventive Genomics' is an evidence-based and innovative use of genomic testing (testing that looks for DNA differences in a person), aiming to proactively identify genetic health risks in healthy adults, and address these genetic risks to prevent and/or delay the onset of illness.

What is the process like?

It is done through a sample (blood, saliva, or cheek swab), taken after a person's consent is ascertained. The sample is shipped to a NATA-accredited laboratory for whole genomics sequencing (WGS, decoding of the entire DNA makeup of 25,000 genes).

The WGS data is analysed for DNA differences in genes that are known to have an actionable impact should any significant differences be found. These genes include those that predict major heart issues, cancer, heritable diabetes, and drug response. The results will be returned in a follow-up appointment and any risk management plan will be outlined and discussed and onward referrals will be made to address such genetic risks, if needed. There are a few renowned centres in the US (e.g. Massachusetts General Hospital, Boston, Brigham and Women’s Hospital, Boston, Mount Sinai Hospital, New York, Mayo Clinic etc) that offer such testing, but none in Australia or the Southern Hemisphere.

At the St Vincent’s Clinic, through our specialists, we offer such a service which represents the first in Australia.

What does it test for?

The genes tested include those that predict major heart issues, cancer, heritable diabetes, and drug response, as well as genetic carrier status. It can be customised based on each person's unique personal/family history and circumstance.

Why is it important?

It's important because healthcare is moving towards preventative medicine, aiming to identify and address potential health risks to prevent or delay the onset of illness. This has the potential to improve health outcomes and reduce healthcare costs in the long term, making healthcare more sustainable for Australians. There is also a growing demand for personalized medicine, which is treatment tailored to the specific genetic makeup of an individual. Once a 'preventive genome' has been sequenced, data will be stored in the laboratory indefinitely, which can be accessed in the future as or should illnesses develop in that person to guide precision treatment (the concept of 'one genome through a lifetime'). It may also a legacy that a person's genome sequence may help solve/diagnose genetic conditions in future generations.

How much does it cost on average?

It varies, but around AUD$2500-3000. The cost is expected to decrease as time goes by.

If you wish to know more about adult preventive genomics and/or genetic cardiac diseases, please contact A/Prof Kathy Wu: