FDA approves blood test that diagnoses mental disabilities in infants

WASHINGTON – The Food and Drug Administration on Friday cleared a first-of-a-kind blood test that can help diagnose mental disabilities in babies by analyzing their genetic code.

The laboratory test from Affymetrix detects variations in patients’ chromosomes that are linked to Down syndrome, DiGeorge syndrome and other developmental disorders. About 2 to 3 percent of U.S. children have some sort of intellectual disability, according to the National Institutes of Health.

The test, known as the CytoScan Dx Assay, is designed to help doctors diagnose children’s disabilities earlier and get them appropriate care and support. It is not intended for prenatal screening or for predicting other genetically acquired diseases and conditions, such as cancer.

While there are already genetic tests used to detect conditions like Down syndrome, doctors usually have to order them individually and they can take several days to develop. Pediatricians said Friday that Affymetrix’s test should offer a faster, more comprehensive screening approach. Dr. Annemarie Stroustrup stressed that such tests are generally only used after children exhibit certain physical or behavioral signs that suggest a disorder.

The technology behind Affymetrix’s test has already been used for several years to screen fetuses for potentially debilitating diseases. Known as microarray analysis, the technique involves a high-powered computer scanning a gene chip of the patient’s DNA for slight chromosome imbalances. Older techniques involve scientists looking at chromosomes under a microscope for major irregularities.

The FDA said it approved the new test based on studies showing it accurately analyzes a patient’s entire genome and can accurately spot variations associated with intellectual disabilities.

Affymetrix Inc. is based in Santa Clara, Calif. Shares of the company declined 22 cents to close at $9.26 in trading.