In October, the work will yield a practical benefit. The Spanish national pharmaceutical firm Laboratorio Lazer, based in Barcelona, is introducing a “biochip” that can detect Spain’s mutations (those in Pocovi’s registry). Rather than having to sequence the gene that causes familial hypercholesterol for each patient, which takes months and costs about 2,000 euros, doctors will only have to draw a few drops of blood. The chip flags the presence of DNA in the patient’s blood that matches one of the known mutations. Doctors can render a diagnosis within 48 hours, at a cost of 350 euros. Pocovi expects other pharmaceutical firms to follow soon with biochips that detect mutations common to other countries. That’s good news to the 200,000 people around the world who die from the condition each year, most never even knowing they had it. “It’s a slow-ticking bomb, says Pedro Mata, a doctor at Fundacion Hipercolesterolemia Familiar, in Madrid. “If these people are not treated in advance, they have a life expectancy that is 20 to 30 years lower.” The chip is also expected to make it more convenient for doctors to diagnose the condition early–which might help them persuade patients to pre-empt high cholesterol by adopting a healthier lifestyle.
