Eugene Preventative Health Genetic Screening
Assessment Stage: Advanced Investigation
Included in Future Health Assessment: No – Recommended where clinically appropriate following informed consent
Partner: Bloody Good
Provider: Eugene
Approximate Cost: $1015
What is it?
The Eugene Preventative Health Genetic Screening test analyses 184 genes associated with medically actionable, adult-onset inherited conditions. The panel focuses on genetic conditions where identifying an increased inherited risk may allow earlier screening, surveillance or treatment. Variants are classified according to internationally recognised ACMG/AMP guidelines, with only pathogenic and likely pathogenic variants reported. Individuals with a positive result are offered genetic counselling.
What does it assess?
The panel screens genes associated with seven major health categories:
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Inherited predisposition to cancers including:
Breast cancer
Ovarian cancer
Colorectal cancer
Prostate cancer
Pancreatic cancer
Gastric cancer
Melanoma
Kidney cancer
Endocrine tumours
Brain tumours
Sarcomas
Haematological cancers
Includes clinically important genes such as:
BRCA1
BRCA2
PALB2
CHEK2
ATM
APC
MLH1
MSH2
MSH6
PMS2
TP53
PTEN
CDH1
STK11
VHL
RET
MEN1
and many others.
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Inherited conditions including:
Familial hypercholesterolaemia
Hypertrophic cardiomyopathy
Dilated cardiomyopathy
Arrhythmias
Long QT syndrome
Catecholaminergic polymorphic ventricular tachycardia (CPVT)
Aortic aneurysm syndromes
Connective tissue disorders affecting the aorta
Pulmonary arterial hypertension
Hereditary transthyretin amyloidosis (ATTR)
Important genes include:
LDLR
APOB
PCSK9
FBN1
ACTA2
TTN
MYH7
MYBPC3
LMNA
SCN5A
TTR
KCNQ1
KCNH2
CALM1-3
TGFBR1
TGFBR2
TGFB2
TGFB3
SMAD3
and many others.
-
Including inherited:
Thrombophilia
Haemophilia
Familial Mediterranean Fever
Thrombocytopenia
-
Including:
X-linked adrenoleukodystrophy
Malignant hyperthermia susceptibility
Dystonia
-
Including:
Alpha-1 Antitrypsin Deficiency
Polycystic Kidney Disease
Hereditary Haemochromatosis
Wilson Disease
Alport Syndrome
-
Including:
Monogenic diabetes (MODY)
Pituitary adenoma syndromes
Pompe disease
G6PD deficiency
Acute intermittent porphyria
-
Including:
Vascular Ehlers-Danlos Syndrome
Classical Ehlers-Danlos Syndrome
Osteogenesis Imperfecta
Why is it important?
Most preventive screening focuses on current health. Genetic testing instead identifies lifelong inherited risk.
For some individuals, identifying a pathogenic variant may lead to:
Earlier cancer screening
MRI instead of mammography
Earlier colonoscopy
Cardiac imaging
Echocardiography
Aortic surveillance
Cholesterol treatment
Family cascade testing
Preventive surgery in selected situations
Personalised screening recommendations
Importantly, a negative result does not eliminate disease risk, as many diseases are influenced by lifestyle, environmental factors and genetic variants not included within current testing panels.
Who may benefit?
This investigation may be appropriate for:
Individuals with a strong family history of cancer
Premature cardiovascular disease in the family
Familial hypercholesterolaemia
Aortic aneurysm
Cardiomyopathy
Sudden cardiac death
Unexplained inherited disorders
Patients wanting a comprehensive assessment of inherited health risk after informed discussion
Preparation
No fasting is required.
Testing is performed from a saliva or blood sample depending on the laboratory requirements.
Because genetic information has lifelong implications, informed consent is essential before testing.
Advantages
One-time lifetime test
Screens 184 medically actionable genes
Focuses on conditions where early intervention may improve outcomes
Uses internationally accepted ACMG/AMP variant classification
Includes post-test genetic counselling for positive results
May guide personalised screening and prevention strategies
Limitations
Does not diagnose disease.
Detects only pathogenic and likely pathogenic variants within the genes included in the panel.
A negative result does not eliminate inherited or future disease risk.
Many common diseases remain strongly influenced by lifestyle and environmental factors.
Positive findings may have implications for biological relatives and insurance considerations, depending on jurisdiction.
How Future Health uses this investigation
Future Health uses genetic testing selectively, not as routine screening for every patient.
Where appropriate, genetic results are integrated with:
Personal medical history
Family history
Blood biomarkers
Body composition
Cardiovascular assessment
Imaging
Lifestyle factors
The aim is not to predict the future, but to personalise prevention by identifying individuals who may benefit from earlier or more intensive surveillance.
Future Health Summary
The Eugene Preventative Health Genetic Screening panel provides a comprehensive assessment of inherited risk for medically actionable adult-onset conditions. While genes are only one part of the overall health picture, identifying a clinically significant genetic variant can allow earlier surveillance, targeted prevention and personalised management. At Future Health, genetic testing is considered alongside lifestyle, clinical assessment and other investigations to support an individualised approach to long-term health optimisation