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Disease Risk Prediction

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Genomic screening reveals high-impact, actionable genetic risks before symptoms arise

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1 in 75 people, or 1.3% of general population across diverse ancestries, are at high genetic risk for preventable diseases including BRCA1/2-related breast, ovarian, and prostate cancer syndrome, Lynch syndrome with increased risk of bowel and endometrial/ovarian cancer, and familial hypercholesterolaemia1. These conditions have been prioritised as Tier 1 conditions for adult population genomic screening by the U.S. Centres for Disease Control and Prevention (CDC) due to their reasonably high prevalence and availability of evidence-based risk management options2-4.

Implications to Consider Before Testing
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For healthy pre-symptomatic people, genomic testing can identify actionable genetic risks of strong effect (termed ‘monogenic’ risks) for the following conditions, enabling risk management to be proactively undertaken based on available clinical guidelines:

  • Certain cancers, including those associated with BRCA1/2, Lynch Syndrome, and others. The national eviQ guidelines will be used to guide risk management.
  • Certain cardiovascular diseases, including cardiomyopathy, aortic dilatation, hypercholesterolaemia. Relevant guidelines will be used to guide risk management.
  • Diabetes – up to 5% of diabetes are caused by a monogenic risk, and are often mis-diagnosed as Type1/Type 2 diabetes or gestational diabetes. Having knowledge of monogenic diabetes risk may lead to enhanced prevention, as well as improved treatment and pregnancy outcomes.

When a monogenic risk is identified in an individual, this may also have implications to their genetic relatives. The MGA clinicians will provide additional information to help the individual communicate such information to their family, who can then consider their own testing options through their local genetics clinic.

For those who are symptomatic, genomic testing can be used for both diagnostic and preventive purposes, which may help to:

  • clarify diagnosis
  • inform ongoing management
  • provide prognostic information
  • open up novel, more targeted, treatment options
  • inform reproductive risk and family planning options
  • inform screening of other associated health issues that the person is yet to develop
  • inform risk for genetic relatives who can consider their own testing options
  • 1Lacaze et al. eClinicalMedicine 2023;66: 102297
  • 2Grzymski et al. Nat Med. 2020;26(8):1235–1239
  • 3Murray et al. JAMA. 2020;323(4):307–308.
  • 4Murray et al. Genet Med. 2021;23(6):989–995

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Our DNA holds the key to our current and future health, with potential implications passing through generations. Book a consultation with MyGenome Australia and find out how the power of genomics can be harnessed to optimise our health.

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