Diagnosing the Dead, the Living, and the Insured | GeneBrief #003

They Replaced Muscle Biopsies With a Drop of Blood.

🔬 Researchers in Melbourne have developed a blood test that can diagnose over 1,000 rare genetic diseases — using proteins instead of DNA.

Traditional diagnostics rely on genome sequencing, which shows your genetic blueprint — but not how your body is actually functioning.

This test analyzes the proteome — the full set of proteins your body produces — to catch signals of disease that DNA might miss.

It scans over 8,000 proteins from just 1 milliliter of blood, revealing the molecular “fingerprints” of disorders like muscular dystrophy and mitochondrial disease.

In trials, it identified up to 70% of cases — far outperforming traditional methods and eliminating the need for painful muscle biopsies.

For patients and families, it means faster answers, gentler testing, and earlier treatment — all from a single drop of blood.

Your DNA Could Deny You Coverage

As genetic testing becomes more common, life insurers are taking notice.

Your DNA can reveal risks for cancer, Alzheimer’s, heart disease — even mental illness. But this data could be used to raise premiums, limit coverage, or even deny your policy.

While U.S. law protects your health and employment, life insurance isn't covered under the Genetic Information Nondiscrimination Act.

The more we understand the genome, the easier it becomes to misuse that knowledge — labeling people as "high risk" based on probability, not reality.

Your DNA was meant to protect your life. It might soon be used to price it.