Zhijie Jiang was among several CCS researchers presenting at the 2012 annual meeting of the American College of Medical Genetics and Genomics in Charlotte, NC, discussing his updated SNP Array Evaluation Tool and its capability to identify, literally in seconds, a short-list of candidate genes/disorders on runs of homozygosity detected by a clinical SNP array.

The tool aims to assist users, specifically medical geneticists, genetic counselors, cytogeneticists, and clinicians with affinity for genetic disorders to make sense of complex data obtained from an SNP array and zoom in on a short list of candidate disorders.

With this short list, the clinician can perform specific tests to confirm the diagnosis, which once reached, can be translated into improved management. Jiang presented two posters in addition to the talk. One poster highlighted a case report involving a 30-month-old patient who for many months had seen many physicians unable to diagnose her disease. One of the geneticists eventually ordered an SNP array and was able to identify the causative gene very quickly using Jiang’s SNP array evaluation tool. Confirmatory testing (sequencing of PLA2G6) identified homozygous mutations confirming the diagnosis of Infantile Neuroaxonal Dystrophy, a very rare disease.

The tool, hosted at the CCS since its inception in Oct. 2010, currently has more than 450 registered users primarily from the United States, but also from Canada, the Netherlands, the United Kingdom, Italy, France, Saudi Arabia, Australia, and China, with many using the tool frequently. Before the development of this tool, physicians typically would have taken many hours to screen manually for causative genes in difficult-to-diagnose patients—something this tool can do in seconds. The tool is able to provide important diagnostic genetic answers quickly, helping to establish a diagnosis, so health care providers can provide targeted treatment.