Inherited Disease Screening
A proactive look at your DNA to identify high-impact, actionable genetic risk factors. This focuses on conditions where early detection changes your medical care.
Key facts at a glance
Why test your genes if you feel healthy?
Hidden Risk
Approximately 1-2% of the population carries a 'Tier 1' genetic variant (BRCA, Lynch, or FH) that dramatically raises disease risk.
~1 in 50
Actionability
These are not 'doom and gloom' genes. They are actionable findings where specific medical steps can prevent disease.
High
Family History
Many carriers have no known family history of the disease, making screening the only way to find out.
Unreliable
Privacy
Clinical labs are bound by medical privacy laws, unlike many direct-to-consumer ancestry companies.
Protected
The "CDC Tier 1" Conditions
- Hereditary Breast & Ovarian Cancer (HBOC): Caused by BRCA1/BRCA2 genes. Increases cancer risk significantly but enables intensive surveillance.
- Lynch Syndrome: Increases risk of colon and other cancers. Carriers benefit from annual colonoscopies starting young.
- Familial Hypercholesterolemia (FH): Genetic high cholesterol that causes heart attacks in young people. Treatable with medication.
How it differs from "Ancestry" tests
- Medical Grade: Uses Next-Generation Sequencing (NGS) verified by clinical scientists, not just "snip" arrays.
- No Recreational Data: Does not estimate ethnicity or find distant cousins.
- Doctor Involvement: Results are delivered to a clinician who helps you interpret them.
The Process
- Sample: Usually a saliva sample or a simple blood draw.
- Analysis: The lab looks at a specific panel of genes (often 100+) known to cause disease.
- Results:
- Negative: No known pathogenic variants found. (Does not guarantee zero risk, as lifestyle matters).
- Positive: A specific mutation was found. Your doctor will create a personalized surveillance plan (e.g., "Start mammograms at age 30").
- VUS: "Variant of Uncertain Significance." A grey area that is usually treated as negative until science advances.
Implications for Insurance
In many countries (like Australia and the US), health insurance is community-rated and cannot discriminate based on genetics. However, life insurance and income protection policies can sometimes ask for genetic results. It is often recommended to have your life insurance policies in place before undergoing genetic testing.
References
Standards and policy statements.
- ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing — Genetics in Medicine (2023)View source — The 'ACMG list' of highly actionable genes
- CDC Tier 1 Genomic Applications — CDC (2024)View source — Focuses on BRCA, Lynch Syndrome, and Familial Hypercholesterolemia
- Murray MF, et al.. DNA-Based Population Screening: Potential Suitability and Important Knowledge Gaps — JAMA (2020)
Content is educational and not medical advice. For personal recommendations, consult your clinician.