Genomic Health

Genomic Health Empowering health through genetics. 🌱 Expert genetic testing, genetic counselling & clinical genetic reviews for all ages.

Perth-based, Australia-wide telehealth consults. 35+ years of trusted experience. Your genetics, your health - at Genomic Health

Both partners deserve answers from the start.When it comes to fertility and reproductive health, genetic factors can som...
24/08/2026

Both partners deserve answers from the start.
When it comes to fertility and reproductive health, genetic factors can sometimes playa role for either partner.
Genetic counselling can help couples understand their family history, explore whether genetic testing may be appropriate, and make informed decisions together.
Because reproductive care should be couple-centred, personalised and informed from the beginning.
We have some exciting developments in this space so follow along for updates.
Telehealth appointments available Australia-wide. Get in touch with Genomic Health to learn how we can help.

Inheritance tells us how a genetic variant can be passed on. Penetrance tells us how likely that variant is to result in...
18/08/2026

Inheritance tells us how a genetic variant can be passed on. Penetrance tells us how likely that variant is to result in a particular condition or characteristic.
Understanding the difference is important when interpreting genetic risk—for both individuals and families.
And importantly, carrying a genetic variant does not always mean that someone will develop the associated condition.
That's where genetic counselling can help: turning complex genetic information into something meaningful and understandable.

14/08/2026

Where do you go to get your child’s health needs met when it comes to genetic testing?

Not all cancers are hereditary—but some are.Understanding whether cancer in your family could have a genetic cause is an...
31/07/2026

Not all cancers are hereditary—but some are.
Understanding whether cancer in your family could have a genetic cause is an important step towards personalised healthcare.
Genetic counselling can help assess your family history, determine whether genetic testing may be appropriate, explain your results, and guide you through the next steps.
Knowing your inherited cancer risk isn't about predicting the future—it's about making informed decisions for yourself and your family.
Australia-wide telehealth appointments available, check our website through the link in bio.

As a preventive health genetic counsellor, these are a few hills I'll happily die on.👉You shouldn't have to wait until c...
26/07/2026

As a preventive health genetic counsellor, these are a few hills I'll happily die on.
👉You shouldn't have to wait until cancer has affected multiple generations before seeking answers.
👉Your genes provide information—not certainty. They can guide screening, prevention and informed decision-making, but they don't determine your future.
👉And perhaps most importantly, genetic testing should never end with a laboratory report. Understanding your results is just as important as receiving them.
At Genomic Health, we believe genetic counselling is about empowering people with knowledge, context and support—before, during and after testing.
Australia-wide telehealth appointments available.

Today, on Australia’s Fragile X Awareness Day, we stand with individuals living with Fragile X syndrome, their families,...
22/07/2026

Today, on Australia’s Fragile X Awareness Day, we stand with individuals living with Fragile X syndrome, their families, caregivers, and the entire community.
Awareness is more than knowing the name of a condition-it means promoting understanding, encouraging earlier diagnosis, supporting research, and building inclusive communities where everyone has the opportunity to thrive.
Every conversation helps reduce stigma. Every act of support makes a difference.
Together, we can create a future with greater awareness, more opportunities for people living with Frayile X syndrome.

The National Society of Genetic Counselors (NSGC), the American College of Medical Genetics and Genomics (ACMG), and the...
17/07/2026

The National Society of Genetic Counselors (NSGC), the American College of Medical Genetics and Genomics (ACMG), and the American Society of Human Genetics (ASHG) recently released a joint statement highlighting the importance of considering genetics in the clinical evaluation of autism spectrum disorder.

Not every individual with autism has an identifiable genetic cause.

However, when one is found, it can provide information that extends well beyond the diagnosis itself. Genetic testing may help identify associated medical conditions, guide clinical management, inform recurrence risk, and connect families with condition-specific resources and research opportunities.

As genomic medicine continues to evolve, understanding the underlying cause of autism—when appropriate—can support more personalized, evidence-based care for individuals and their families. Genomic Health is here for you.

14/07/2026

🇫🇷 Bastille Day Special 🧬🎂
What do cakes and karyotypes have in common? France! 🇫🇷
Today we’re celebrating Bastille Day by recognising a sweet contribution France made to the world of genetics.
While France is famous for its pastries and cakes, it also played a pivotal role in the history of cytogenetics. In 1958, French geneticist Jérôme Lejeune, working with colleagues including Marthe Gautier and Raymond Turpin, identified that Down syndrome is caused by an extra copy of chromosome 21 (Trisomy 21). This discovery, made through chromosome analysis and karyotyping, was the first time a chromosomal abnormality was linked to a human condition—helping launch the field of modern medical genetics. [embryo.asu.edu], [cureus.com]
A karyotype is a picture of a person’s chromosomes, arranged in pairs, allowing geneticists to identify differences in chromosome number or structure. Today, karyotyping remains an important tool in diagnosing chromosomal conditions and understanding human genetics. [embryo.asu.edu], [embryo.asu.edu]
So whether you’re admiring a beautifully layered cake or a carefully arranged karyotype, spare a thought for France’s enduring impact on science and discovery.
Bonne Fête Nationale! 🇫🇷🧬
DownSyndromeAwareness MedicalGenetics GenomicHealth ScienceHistory FrenchInnovation

A diagnosis of cerebral palsy (CP) is often associated with events such as birth injury or complications around delivery...
13/07/2026

A diagnosis of cerebral palsy (CP) is often associated with events such as birth injury or complications around delivery. However, emerging research suggests that up to one-third of children diagnosed with CP may have an underlying genetic condition.

When clinical features don't fully align with the expected presentation (or when additional signs such as developmental differences, seizures, hearing loss, or congenital anomalies are present) genetic testing may help identify an underlying cause.

An accurate genetic diagnosis can do more than provide answers as our understanding of the genetics of cerebral palsy continues to evolve, genomic testing is becoming an increasingly valuable tool in the diagnostic journey for selected patients.

12/07/2026

4 years. Countless conversations. So many lessons.
I’m so grateful for every person who’s trusted me to be part of their journey. Here’s to growing, learning, and showing up with compassion every day.

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West Leederville, WA
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