Nuevas pruebas genéticas podrían mejorar la fibromialgia Diagnóstico, tratamiento


Proove Biosciences, a California-based firm specializing in pain medicine, has developed a new tool to help physicians better diagnose and treat fibromyalgia.

“The Proove Fibromyalgia Profile is a first-of-its-kind decision-improvement tool that harnesses individualized information to aid in the identification of genetic factors that may contribute to differing clinical pathways behind a fibromyalgia diagnosis and in the customization of personalized treatment,” reads a press release.   Using DNA collected from a cheek swab, the profile analyzes markers from 11 genes that may play a role in the transmission and processing of fibromyalgia pain.  “These variants were chosen based on published associations with various biological pathways underlying fibromyalgia,” explained Svetlana Kantorovich, Proove’s director of clinical and scientific affairs. “These genes provide information about central pain sensitization and the metabolism of pain medication for an individual patient.”  Physicians receive a report that highlights a patient’s genetic predisposition for developing fibromyalgia and clinical recommendations for how a patient is likely to respond to commonly prescribed fibro medications. Medical providers can use these genetic insights to help diagnose and then individualize treatment for fibromyalgia patients.  “The [fibromyalgia profile] promotes evidence-based decision-making and may aid in better diagnostic and treatment strategies,” Kantorovich explained. “Many approaches today are based on trial-and-error – a slow, iterative process that could be eliminated or at least shortened if the physicians had more information up front.”  It often takes years of shuffling from doctor-to-doctor for most fibromyalgia sufferers to finally be diagnosed. Proove’s fibromyalgia profile could shorten that ordeal.  Fibromyalgia patients also are notoriously sensitive to medications and sometimes can’t tolerate commonly prescribed drugs because of side effects. Proove’s fibromyalgia profile uses a patient’s genetic markers to identify which medications are more likely to be tolerated.  “A doctor will generally choose among the arsenal of [drugs] those things that she prefers … those things that have worked best for her patients in the past or maybe she liked a particular drug representative,” Brian Meshkin, Proove’s CEO, explained. “What we are trying to do is change the paradigm. Beyond the doctor’s preference, what are those one, two, three medications that a doctor should prioritize?”  Proove’s ongoing research could be useful in eventually cobbling together the puzzle of what causes fibromyalgia. Early data suggests some cases of fibromyalgia may be linked to serotonin and catecholamine dysregulation, while others may be immunologic in nature.  “We believe there’s going to be different categories of fibromyalgia diagnoses,” Meshkin said. “We continue to research and evaluate, and just like our other profiles, we anticipate continued research that we will be able to use to improve and answer more questions about fibromyalgia.”

Earlier this year, Proove researchers presented the findings of a retrospective analysis to the annual meeting of the American Academy of Pain Medicine, in which two genetic variants – C-reactive protein (CRP) and protein tyrosine phosphatase non-receptor type 11 (PNPN11) – were identified as being associated with an increased risk of developing fibromyalgia.  “CRP is the gene that codes for C-reactive protein, a biomarker for inflammation,” Kantorovich said. “Previous studies that measured CRP levels found that they are higher in fibromyalgia patients than healthy control subjects, giving credence to the role of inflammation in fibromyalgia, which is suspected to be part of the disease’s pathophysiology but is not always evident in clinical exams. The CRP genetic variant that Proove investigated is associated with higher CRP levels as well, supporting the conclusions of previous research studies and providing a potential marker of evaluating fibromyalgia.  “PTPN11 … is a widely expressed protein in the immune system and is involved in stress response and inflammation,” Kantorovich continued. “The association between the PTPN11 genetic variant Proove investigated and fibromyalgia is a novel finding, and may play a yet unexplored role in the inflammatory component of fibromyalgia.”  The Proove Fibromyalgia Profile just became available to patients a few weeks ago and is not covered by most health insurance companies at this time. The list price is $799.  “We have many opportunities, however, to reduce the out-of-pocket cost to the patient, including participation in clinical studies and assistant programs for those in need,” Kantorovich said.  Contact Proove for more information about the opportunities mentioned above or to find a local physician who is using the fibromyalgia profile.  Donna Gregory Burch was diagnosed with fibromyalgia in 2014 after several years of unexplained pain, fatigue and other symptoms. Earlier this year, she was diagnosed with chronic Lyme disease. Donna covers news, treatments, research and practical tips for living better with fibromyalgia on her blog, She is an award-winning journalist whose work has appeared online and in newspapers and magazines throughout Virginia, Delaware and Pennsylvania. She lives in Delaware with her husband and their many fur babies.

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