The new test can speed up thousands of rare genetic diseases: ‘revolutionary for families’

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 is often needed to need general anesthesia in young patients.

While rare diseases are, the name suggests, not common – there are over 7,000 rare diseases affecting about 300 million people globally.

Many of these people will remain naked for their entire life for comprehensive 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 analysis that changes the game can distinguish between carriers and parties affected by acrics and higher speeds.

“The opportunity to use so little blood from babies and produce strong results with a quick return time 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 threesome analysis greatly improves the differentiation between carriers and individuals affected with higher confidence, and this has exceeded our initial expectations. 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, chairman 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 – the test costs as little as $ 50 to execute and the results return to hours.