Opko Health Inc. (NYSE:OPK) announced through its subsidiary GeneDx, results from a retrospective review of molecular diagnostic testing by Whole Exome Sequencing (WES). The peer-reviewed study, “Clinical Application of Whole Exome Sequencing across Clinical Indications,was published in the December 2015 issue of Genetics in Medicine. It is the largest data set of its kind published to date and demonstrates that WES is successful in providing a definitive diagnosis for patients with rare and complex genetic conditions when parents or other affected family members are included in the analysis.

GeneDx, a wholly-owned subsidiary of OPKO, reviewed 3,040 consecutive WES cases over three years to better understand how WES could provide a genetic diagnosis for signs and symptoms in an affected individual. Each patient and his or her parents, when possible, were analyzed, which significantly improved diagnostic yield, especially for genetic disorders caused by a newly occurring (de novo) pathogenic variant not present in either parent. By comparing molecular findings in many patients with similar or overlapping presentations, GeneDx was able to observe possible links between groups of patients and genes that, until now, have not been known to cause human disease (‘candidate’ genes).

“Our research underscores the benefit of testing parents and the patient; demonstrating that WES has the potential to identify pathogenic variants in genes that would not typically have been tested via targeted gene panels and which would have otherwise been missed,” said Marc D. Grodman, M.D., CEO at BioReference Laboratories. “Interrogating our large data set for clustering of pathogenic variants with similar clinical presentations in ‘candidate’ genes allowed us to successfully identify novel genes that cause rare genetic disorders.”

“Whole Exome sequencing is one of the most interesting technologies available for the diagnosis of hereditary disease, and holds great promise for providing information and potential management options for patients and families dealing with complex genetic conditions,” said Sherri Bale, PhD, FACMG, co-founder and Managing Director of GeneDx. (Original Source)

Shares of Opko Health closed yesterday at $11.18, up $0.18 or 1.64%. OPK has a 1-year high of $19.20 and a 1-year low of $8.16. The stock’s 50-day moving average is $10.35 and its 200-day moving average is $12.70.

On the ratings front, Opko Health has been the subject of a number of recent research reports. In a report issued on September 28, Barrington Research analyst Michael Petusky maintained a Buy rating on OPK, with a price target of $19, which represents a potential upside of 69.9% from where the stock is currently trading. Separately, on September 11, Jefferies Co.’s Brandon Couillard downgraded the stock to Hold and has a price target of $11.

According to TipRanks.com, which ranks over 7,500 financial analysts and bloggers to gauge the performance of their past recommendations, Michael Petusky and Brandon Couillard have a total average return of 6.4% and 12.5% respectively. Petusky has a success rate of 62.5% and is ranked #991 out of 3640 analysts, while Couillard has a success rate of 74.7% and is ranked #203.

Opko Health Inc is a biopharmaceutical and diagnostics company. The Company is engaged in the research and development of pharmaceutical products and vaccines.