ST. PAUL, Minn., May 25 (UPI) -- A new rapid blood test for newborns could potentially detect genetic mutations linked to thousands of rare diseases all at once, greatly improving on current inefficient detection methods, according to a study to be presented Monday.
The new test developed by Australian scientists has proven highly accurate in identifying gene mutations associated with many rare, inherited diseases, all from just a minimally invasive blood sample taken from infants and children, the authors say.
The study, being unveiled at the European Human Genetics Conference in Milan, Italy, demonstrated that a single, untargeted test capable of analyzing 8,000 human proteins at once was able to correctly identify 83% of people with confirmed rare, inherited diseases.
The "proteomics" test was also able to differentiate between parental carriers of the mutations, who only have one copy of the defective gene, and the affected child, who carries two copies.
Those encouraging results are raising hopes for a new era in which screening infants and children for suspected inherited rare diseases can be accomplished quickly and efficiently for the first time, and that testing can be extended to many more of the estimated 300 million people worldwide affected by these genetic mutations.
