OVERVIEW OF Services

A Shared Genomics Health Journey Starts Here

Comprehensive genomics care provided by MyGenome Australia (MGA) encompasses both preventive and diagnostic genomic testing, as relevant to each individual. Preventive genomics usually refers to genomic testing undertaken by healthy and pre-symptomatic people; whereas diagnostic genomics refers to testing for symptomatic people to identify an underlying genetic cause or a genetic diagnosis. In the real world, however, there can be overlaps between the two, in which case, a testing package with both diagnostic and preventive elements can be built, tailored to the needs of each individual. A preventive/diagnostic genome can also be analysed in the future, as one develops new health concerns as time goes, to look at relevant genes (read Patient Story on the ultimate use of genomics).

If an actionable result is found, the MGA clinicians will put in place a personalised management plan based on consensus clinical guidelines, taking into account of each individual’s personal and familial circumstances in a shared decision-making journey. Specialist referrals are arranged if needed, and personalised care plan is communicated with their GPs and other treating clinicians. Implications of a positive result for genetic relatives will also be discussed, and aids provided to help the person communicate genetic information to biological relatives. Reproductive options may also be discussed for those at an increased reproductive risk who are family planning.

Preventive Genomics

Take Action Before Symptoms Begin

Genomic testing can proactively identify actionable genetic risks of strong effect (termed ‘monogenic’ risks) for certain cardiovascular diseases, diabetes, certain cancers, and drug response to certain therapeutic medications, as well as those associated with reproductive health (section below). These genetic risks are clinically actionable, meaning that when such a risk is identified, it would lead to a change in management for the individual, which may include:

increased screening,
implementation of risk management strategies including medications and prophylactic surgery,
lifestyle and medication changes,
reproductive planning.

At the moment, the cumulative impact of many common genetic factors of minor effect (termed ‘polygenic’ risk), as quantified via polygenic scores (PGS), remains predominantly a research tool, as Human Genetics Society of Australasia (HGSA) Position Statement outlined that further regulatory, implementation and health system evaluations are required before PGS can be routinely implemented.

MGA is actively monitoring the readiness and appropriateness of incorporating PGS into its testing packages, and will do so when it is believed to provide useful and actionable insights into risk stratification and management.

How Genomic Testing Supports Personalised Healthcare

Familial Hypercholesterolaemia

Cardiomyopathies

Arrhythmias

Aortopathies

PRS for coronary artery disease (will be incorporated when ready for clinical use)

The identified genetic risk may lead to lifestyle changes & prescription medications to prevent sudden deaths & premature cardiovascular complications.

Up to 5% of diabetes are genetic (termed 'monogenic diabetes')

The most common forms of monogenic diabetes either do not need treatment or are highly responsive to oral medications

PRS for Type 1 or Type 2 Diabetes Mellitus (will be incorporated when ready for clinical use)

Identifying monogenic diabetes has lifestyle and treatment implications that can optimise diabetes care, prevent cardiovascular complications, as well as mitigate unnecessary treatment such as insulin and treatment-related complications.

Genomic test can identify those at increased risk of certain cancers

Effective screening and/or risk-reducing surgeries based on up-to-date clinical guidelines

Pre-emptively identify relatives at risk

Evidence-based cancer screening and reproductive options that would otherwise not be considered

Genomic test for medication response (termed 'pharmacogenomics')

Personalised prescription rather than one-size-fits-all

Tailor drug choice & dosing

Reduce adverse drug effects, improve medication tolerability, avoid therapeutic failure, increase chance of remission

Reproductive carrier screening

Genomic screening to identify couples, or planned donor-conceived pregnancies, at increased risk of having a child with certain genetic conditions

To provide peace of mind, and inform reproductive decision making to reduce the identified genetic risk in offspring

Diagnostic Genomics

Find the Genetic Root of Your Symptoms

For people with symptoms and/or family history suggesting an underlying genetic cause, diagnostic genomic testing can be arranged following clinical assessment with the MGA clinical geneticist. Any diagnostic testing arranged can be leveraged, if wished, to incorporate the preventive element, the latter to identify actionable genetic risks unrelated to their current symptoms but are predictive of their future health.

Our Services

Tailored Genomic Testing that Evolves with Each Person's Life Stages

MyGenome Australia believes that precision medicine begins with understanding a person's DNA. Whether the person is planning ahead, managing existing symptoms, or exploring their family’s genetic risks, MGA's testing solutions are designed to meet each person where they are. By combining preventive and diagnostic insights, MGA aims to deliver personalised and evidence-based care that evolves with each person in a shared health journey.

Disease Risk Prediction

Genomic testing to identify high-impact and actionable risks for proactive health and symptom management

Pharmacogenomics

Understand how your genes influence medication response for personalised prescriptions

Reproductive Carrier Screening

Genomic screening to inform reproductive planning and decision-making

Get started today

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.

Enquire today