Panel urges new genetic test for neurodevelopmental disorders
Excerpt from online article:
Evolution of genetic testing
Until a decade ago, the state of the art in genetic testing was a technique called karyotyping, which involved examining chromosomes — the thread-like collections of DNA found in the nucleus of each human cell — under a microscope. Unfortunately, karyotyping was able to find the genetic causes of unexplained neurodevelopmental disorders only about three percent of the time.
In 2010, Miller helped convince the medical community to embrace a new technology called chromosomal microarray (CMA), which uses molecular probes to search a cell’s 23 pairs of chromosomes for extra or missing copies of genes. CMA was a major advance, able to find the genetic roots of neurodevelopmental disorders 15 to 20 percent of the time. It became a first-line test, covered by most insurance providers.
But over the last decade, exome sequencing has emerged as a promising alternative. “There still are going to be uses for chromosomal microarray,” says Miller, a senior co-author of the Genetics in Medicine paper. “We’re just pointing out that technology has advanced, and now there’s a better option that gives you more answers.”