November 7, 2022
Diagnosis Day family - father and child reading together.

Author: Monica Ferrie, Genetic Support Network of Victoria

In 2021, the United Nations recognised the rights of people living with a rare disease to have the highest attainable standard of physical and mental health and to have access to a standard of living adequate for the health and wellbeing of oneself and one’s family.

Precision healthcare is a lever to the equitable pursuit of these rights. The advancements of genomics are allowing precision medicine to transition from a hopeful fantasy to an impactful reality. The growing number of pathways to a genetic diagnosis are being attained more efficiently and that is leading to better health outcomes for individuals and their families.

But not yet for everyone.

According to Global Genes, the pathway to a correct diagnosis entails seeing, on average, eight physicians over 7.6 years.

Precision medicine has a role to play here beyond rare disease; cancer and heart conditions can commonly be linked to genetic biomarkers.

For precision healthcare to deliver the ‘right’ result, it cannot be simply about the clinical experience for the patient. It is the choice of the right test with the right support for the right patient at the right time, the delivery of the right treatment with the right support for the right patient at the right time and the right support post treatment or the right re-testing at the right time.


Diagnosis Day provides a bit of an insight – through the stories of six Victorian families – into the ‘diagnostic odyssey’. In episode 2, ‘Not Knowing’, each family recounts their questions, tests and procedures to discover the cause of symptoms that can’t be explained.  Every story is different and both misdiagnosis and diagnosis spark new challenges.

What shines true is that equitable access to a genetic diagnosis is so important in reducing the time that families spend navigating the ‘unknown’. That means more time to live life at the highest standard of attainable health.

Read this article on LinkedIn.


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Melbourne Genomics acknowledges the Wurundjeri people of the Kulin Nation, on whose lands we work, and all First Nations peoples across Victoria. We pay respect to Elders past and present. We also acknowledge the First Nations health professionals, researchers and leaders who are shaping the future of genomic medicine.

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