The new test can speed up thousands of rare genetic diseases

A shocked blood test promises to transform the diagnosis of rare genetic diseases in babies and children, providing results in under three days and potentially eliminating the need for invasive procedures.

Discovered at the European Society of Human Genetics Conference, the test requires only 1ml of blood, making it minimally invasive compared to procedures such as muscle biopsies, which often require general anesthesia in young patients.

While rare diseases are, the name suggests, unusual – there are over 7,000 rare diseases affecting about 300 million people globally.

Many of these people will remain unattended for their entire lives due to non -concise testing – others have to wait years or even decades to get accurate results.

Including samples from both parents-a method known as the trio-test that changes the game can distinguish between carriers and parties affected with higher accuracy and speed.

“The ability to use so little blood from babies and produce strong results with a rapid time of return has been revolutionary for families,” said co -author Dr Daniella Hock, a senior postdoctoral researcher at the University of Melbourne, Australia, said in a press release.

“Moreover, the use of family samples for trio analysis improves the differentiation between individuals of the carrier and affected with higher confidence, and that has exceeded our initial expectations. We believe the use of this test in clinical practice will bring significant benefits to patients, their families and health care systems by reducing diagnostic time.”

Beyond providing rapid diagnoses, the test offers households access to appropriate treatments, prognosis and reproductive options to prevent the recurrence of the disease in future pregnancies.

For health care systems, this single analysis can replace a target test battery, leading to lower costs and previous interventions.

“Non-invasive agnostic approaches such as genome sequences and protein analysis will allow us to achieve a diagnosis faster in the future,” said Professor Alexandre Reymond, president of the conference.

“They will also allow the previously resolved cases to be resolved, thus helping families all over the world.”

This progress coincides with global efforts to increase early detection of genetic conditions.

For example, NHS England is launching a scheme to check 100,000 newborn for over 200 genetic conditions through the entire genome sequences.

And researchers at Columbia University have created a quick test that accurately detects whether a fetus has extra or missing chromosomes – test costs as little as $ 50 to execute and the results return within hours.