Whole genome sequencing - meet your genes

Whole genome sequencing is becoming more accessible, immediate and informative, thanks to Garvan’s wholly-owned subsidiary Genome.One.
16 April 2018

If you could, would you choose to find out if you’re carrying a gene variant that could affect your future health? What would you do with the information if you had it? Do you think it would influence you to change your health habits, take preventative action or inform your children of their potential risks?

This is not the stuff of science fiction or even an opportunity only affordable to a Gates or a Rinehart. Genome sequencing, analysis and risk assessment is available, here and now.

Understanding your risk

The genetic information from this test can help you to understand your risk of developing around 50 conditions that result from changes in more than 200 genes, as well as your likely response to more than 220 medications.

“Personal genomic information not only empowers individuals to take control of their health and potentially prevent disease, it can also optimise treatment in the clinic,” says Associate Professor Marcel Dinger, the Head of Garvan’s Kinghorn Centre for Clinical Genomics (KCCG) and CEO of Genome.One.

Each gene included in the assessment is associated with a condition that is possible to treat, manage, monitor or prevent with present-day medical tools.

Important to note, this service is not one of the now-commonplace online DNA tests that provide information about ancestry.

Instead, Genome.One’s genomic tests are part of a clinical service that requires a doctor’s referral and involves genetic counselling with healthcare professionals to help people understand, use and share their information.

“By itself, genomic information provides insights into a person’s risks for the future – but it is best used in a healthcare context in combination with their personal and clinical information,” Dr Dinger explains. “A person’s genome doesn’t generally change over time, so it can continue to provide them with an additional layer of health information across their lifetime or be shared with their family and children.”

Garvan researchers are rapidly accelerating the knowledge we have about the human genome. This will ensure a growing impact on our ability to prevent and treat disease.

And, as more discoveries are made linking gene variants with health, those with their DNA already sequenced can have their data reanalysed to incorporate new evidence and a broader range of conditions. This could identify new opportunities to improve their and their family’s health.

Case study 1

When Linda* had her genome sequenced, a variant was found that could cause a reaction to a general anaesthetic. She shares half of her DNA with her immediate family members, so this variant could also be present in her children. At the age of 10, her son needed to undergo a routine procedure, so Linda worked with her doctor to take extra precautions in case her son reacted to the anaesthetic.

Case study 2

Malcolm* had a health and genomic risk assessment both for curiosity and to provide a record for his children and grandchildren. He had raised cholesterol levels and a genetic variant known to be linked with familial hypercholesterolaemia, which can increase the risk of premature cardiovascular disease. His pharmacogenomics report suggested he would respond to particular medications. Malcolm was referred to a specialist and this information helped guide his care.

*Not their real names.