Genetic Discoveries Expand Line of Blood Plasma Diagnostics

Novel mutations, discoveries, and tests could lead to the expansion of blood-plasma tests for leukemia and lymphoma. Genetic variations can indicate a patient's risk of developing a potentially life-threatening blood disorder if exposed to certain pharmaceutical therapies or chemicals.

Leumeta tests identify genetic markers that can help physicians detect disease, predict therapy response, and monitor disease progression using plasma rather than cells, replacing, in some cases, the need for painful bone-marrow biopsies.

In addition, scientists have used a diagnostic technique for identifying whether a patient with heparin-induced thrombocytopenia (HIT) will also experience HIT when treated with a synthetic form of heparin, fondaparinux sodium (Arixtra). HIT is an immune reaction experienced by some patients after exposure to the blood thinning drug heparin that can promote the formation of potentially life threatening blood clots.

Quest Diagnostics (Madison, NJ, USA) the company responsible for these discoveries, also found that a single nucleotide polymorphism (SNP), a variation in a DNA sequence, of the erythropoietin (EPO) gene is associated with the development of the blood disorder myelodysplastic syndrome (MDS), a life-threatening illness for some patients.

Although additional investigation is required, Quest scientists explained the potential clinical value of detecting a specific EPO gene polymorphism in high-risk individuals. For example, patients with this specific polymorphism could store stem cells prior to beginning chemotherapy, so that if they develop MDS, they could undergo a bone marrow transplant using their own healthy cells at a later time.

These and more discoveries were revealed by Quest Diagnostics, the company which produces the Leumeta tests, during the 51st American Society of Hematology (ASH) Annual Meeting and Exposition, held on December 5-8, 2009, in New Orleans (LA; USA).

"As a leader in diagnostics in hematologic cancers and other blood disorders, our goal is to bridge the divide between scientific discovery and clinical need with novel, quality diagnostics," said Jon R. Cohen, M.D., chief medical officer and senior vice president, Quest Diagnostics. "Our scientists' research presented at ASH 2009 expands the growing body of knowledge of the genetic and biological factors implicated in blood diseases. It also promotes our development of new diagnostics, including in our Leumeta family, for aiding clinical care of patients."

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