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What is genetic screening and what genes are tested?

Genetic screening at HealthScreen involves analysing your DNA to identify inherited variants that may increase your risk of certain serious health conditions, particularly cancers and cardiovascular disease.

Unlike imaging or blood tests, which assess your current health status, genetic testing looks at your underlying biological blueprint to identify risks that may not otherwise be identified through standard health checks.

What genes are tested? The HealthScreen genetic panel tests 167 genes associated with cancer risk and cardiac conditions. This includes genes relevant to:

Cancer risk genes

  • BRCA1 and BRCA2 — associated with elevated risk of breast, ovarian, and related cancers
  • Lynch Syndrome genes (MLH1, MSH2, MSH6, PMS2) — associated with hereditary colorectal cancer and other malignancies
  • Other hereditary cancer syndromes — including those related to pancreatic, gastric, kidney, and thyroid cancers

Cardiac risk genes

  • Genes associated with inherited cardiomyopathies (conditions affecting the heart muscle)
  • Variants linked to hereditary arrhythmias and pathologies

Who is genetic screening for? Genetic testing is particularly relevant for:

  • People with a strong family history of cancer or heart disease
  • Those who want a complete picture of their inherited risk profile, regardless of family history
  • Individuals for whom early genetic insights could meaningfully change surveillance, prevention, or lifestyle decisions

It is important to understand that having a genetic variant does not mean you will develop a condition. It indicates an elevated risk that should be factored into your clinical management and monitoring plan.

A partner certified genetic counselor reviews all genetic findings and will outline what — if anything — warrants further action or specialist review.

Is genetic screening included in HealthScreen programs? The 167-gene genetic panel is included as standard in the HealthScreen Platinum Program. It is available as an optional add-on for our other programs.

The test is conducted from a saliva sample collected during your assessment.

For questions about genetic screening, contact our team on 1300 03 1300 or visit healthscreen.com.au.