A new diagnostic genomic testing method has been developed to diagnose a rare form of pulmonary hypertension caused by a genetic mutation.
The new testing method is a significant improvement for patients because it utilizes a simple blood sample, eliminating the need for a much more invasive lung biopsy that was previously required to test for the genetic mutation.
Pulmonology and genetics experts from Intermountain Medical Center and ARUP Laboratories in Salt Lake City say their new genomic testing method for the gene named EIF2AK4 will result in two major advances: improvement in the accurate diagnosis and proper treatment for patients with the genetic mutation and rare form of pulmonary hypertension and an increase in awareness about the genetic disorder among the public and healthcare providers.
“The new testing methodology is a model of how genomic testing can and will undoubtedly provide better outcomes for many disorders and lower the cost of healthcare delivery and lower risks to patients,” said Gregory Elliott, MD, chairman of the department of medicine at Intermountain Medical Center. “It involves a rare disease, but this theme will be repeated again and again in so many ways.”
Intermountain and ARUP have entered into a licensing agreement for the new testing method, making it available through ARUP Laboratories.