MELBOURNE, Australia, March 27, 2025/ -- Illumina Inc. (NASDAQ: ILMN)
Thousands of Australians with inherited high cholesterol could be saved from an early death by having a simple, fully subsidised genetic test.
Familial Hypercholesterolaemia (FH), an inherited condition that causes dangerously high cholesterol levels, affects 1 in 250 people. However, 90% of those with FH—an estimated 90,000 Australians—remain undiagnosed, unaware that they face a significantly increased risk of developing premature cardiovascular disease.
"A simple blood or saliva test could prolong the lives of thousands of Australians," Katie Ellis, Illumina Senior Manager Medical Affairs said.
"We're encouraging Aussies, especially those who know they've a family history of high cholesterol, just to ask their GP the question."
FH is passed down from one or both parents and results in elevated levels of low-density lipoprotein (LDL) cholesterol, commonly known as "bad" cholesterol.
If left untreated, this can lead to the build-up of plaque in the arteries and early coronary heart disease (CHD).
An early diagnosis and treatment is crucial. Men diagnosed in time can extend their life expectancy by up to 20 years, and women by as much as 30 years.
This is just one example of the power of genomics – the study of a person's genetics.
Next Generation Sequencing technologies have taken the possibilities to a new level, allowing scientists, researchers and clinicians to transform how we detect, diagnose and treat genetic diseases.
"Tests for genomic diseases like FH are now possible and more accessible thanks to new genomic sequencing technology," Ms Ellis said.
"These tests essentially look at the underlying recipe that is our genetic make-up. In this instance, we can look beyond a person's cholesterol levels on a particular day and conclusively determine from their DNA if they have this condition."
FH Australia Deputy Chair Christine Tawtel said FH is not simply high cholesterol.
"It's a genetic condition that is present from birth and, left untreated, leads to coronary artery disease and early risk of a heart attack," Ms Tawtel said.
"FH Australia supports all early screening and testing for FH, as well as adult population-based genetic testing. Care pathways should be available to ensure that diagnosed patients are appropriately managed through primary, tertiary or a shared care model."
Australians with a family history of heart disease, or those with high cholesterol, can approach their GP to have this fully subsidised test performed.
