Test Maker Expands Research to Identify Genetic Markers Unique to Fibromyalgia and Explore Direct Treatment Approaches

Test Maker Expands Research to Identify Genetic Markers Unique to Fibromyalgia and Explore Direct Treatment Approaches

By Staff

Today with the assistance of major medical universities including UCLA, Massachusetts General Hospital and University of Illinois Chicago, EpicGenetics, Inc. announced the commencement of a new research study in fibromyalgia.

National Pain Report previously covered EpicGenetics’ FM/a® Test for the diagnosis of fibromyalgia, now, the company has announced they are seeking to make progress in uncovering information about FM that may, ultimately, help to provide a pathway for direct, effective treatment of the medical condition.

The study being announced will seek to do two things:

  1. identify genetic mutations unique to FM in up to 250,000 patients confirmed to have the medical condition via a positive FM/a® Test; and, based on these findings,
  2. explore a vaccine that could effectively treat and change the biology of fibromyalgia.

Fibromyalgia, is a painful, neurological disorder that, according to some estimates, may affect 10 million+ Americans. Still, there is limited research in and understanding of this medical condition, and fibromyalgia is too often misdiagnosed. Further, with limited treatment options and significant misunderstanding around fibromyalgia, patients are often told that they do not have a legitimate medical condition.

Although the test is not free, the company’s website claims that, a “growing numbers of patients are getting 100% insurance coverage” for the cost of the test, and they provide assistance in finding out whether an individuals insurance will cover the cost. Furthermore, according to their press release, “EpicGenetics will offer whole exome genetic surveys to FM/a® test-positive patients in a search for fibromyalgia-specific gene markers and mutations, analogous to the BRCA1/BRCA2 model for breast cancer. EpicGenetics’ associated CAMPAIGN 250 seeks to accomplish these gene surveys in up to 250,000 FM/a® test-positive individuals. The fees for these genomic surveys will be paid by EpicGenetics.”

Additional information about the study announced today is in the press release below. More information can also be found at www.FMTest.com.  And, the peer-reviewed research that was foundational to the FM/a® Test’s availability and effective use in diagnosing FM. (see “Peer-reviewed Medical Publications” in the page footer).

Press Release:

EpicGenetics, with the Assistance of Leading Medical Centers, Expands Clinical Study of FM/a® Test to Diagnose Fibromyalgia, Identify Genetic Markers Unique to the Disorder and Explore Direct Treatment Approaches

– Provides Research Gift to the Faustman Immunobiology Lab at Massachusetts General Hospital/Harvard Medical School to Support Research on Fibromyalgia Treatments –

LOS ANGELES – April 19, 2017 – EpicGenetics, a privately held biomedical company dedicated to improving the diagnosis and treatment of fibromyalgia, today announced that it has engaged the University of California, Los Angeles (UCLA)* and the University of Illinois College of Medicine Chicago (UIC). Both university research centers will be sequencing the exomes of patients to improve the diagnosis of fibromyalgia through the application of the FM/a® Test and to allow EpicGenetics to detect fibromyalgia disease-specific gene markers. Additionally, Bruce Gillis, M.D., CEO of EpicGenetics, has made a research gift to the Immunobiology Laboratory at the Massachusetts General Hospital directed by Denise Faustman, M.D., Ph.D., to continue its robust clinical research regarding a direct treatment for fibromyalgia.

The FM/a® Test is an FDA-compliant blood test that diagnoses fibromyalgia by identifying the presence of specific white blood cell abnormalities that have been documented to exist in these patients. The FM/a® Test accurately and objectively diagnoses this chronic disorder that afflicts millions of men, women and children.

EpicGenetics will offer whole exome genetic surveys to FM/a® test-positive patients in a search for fibromyalgia-specific gene markers and mutations, analogous to the BRCA1/BRCA2 model for breast cancer. EpicGenetics’ associated CAMPAIGN 250 seeks to accomplish these gene surveys in up to 250,000 FM/a® test-positive individuals. The fees for these genomic surveys will be paid by EpicGenetics.

“There has been very little innovation over the past several decades to help patients better understand and manage their fibromyalgia,” said Frederick G. Behm, M.D., the Frances B. Geever Professor and head of pathology at the University of Illinois College of Medicine Chicago. “Patients with this disorder frequently experience pain and fatigue that prohibits them from being able to engage in their daily lives. These patients are seeking answers to basic questions about the cause and etiology of the disorder – and, as physicians, we are frustrated that our previously limited research in this field prevents us from being able to answer these questions.”

“Since becoming available in 2012, the FM/a® Test has successfully and objectively diagnosed patients with fibromyalgia in the U.S. and multiple other countries, thereby providing these patients with a definitive diagnosis and certainty about a medical condition that has often been misunderstood and erroneously denied as a legitimate medical disorder,” said Bruce Gillis, M.D., CEO of EpicGenetics. “I believe we are at the forefront of advancing scientific information about fibromyalgia and answering these critical questions for patients: 1) Do I have fibromyalgia? 2) How and why did I develop fibromyalgia? and 3) Is there a direct treatment for fibromyalgia?”

Denise Faustman, M.D., Ph.D., director of the Immunobiology Laboratory at the Massachusetts General Hospital and a noted immunologist at the Harvard Medical School, will initiate plans for a clinical trial at the Massachusetts General Hospital to test the potential of the Bacillus Calmette-Guérin (BCG) vaccine to change the biology of fibromyalgia.

FM/a® test-positive patients will be offered an opportunity to participate in this vaccine trial once the study protocols have received the required institutional and regulatory approvals.

As Dr. Faustman explains, “The Massachusetts General Hospital is announcing a new research effort on the application of the BCG vaccine, which will be directed at changing the biology of fibromyalgia as it concerns the foundational immune system discovery of the role particular cytokines have in fibromyalgia.”

The FM/a® Test will consequently not only serve to objectively confirm the diagnosis of fibromyalgia, but also act as the gateway for fibromyalgia patients through these newly announced research efforts to participate in genetic studies to further define their disease.

The cost of the FM/a® Test is covered by most insurance companies and Medicare.

Once diagnosed by the FM/a® Test, EpicGenetics will cover patients’ direct laboratory costs for the genetic surveys and for further research on their disease. Patients who are suspected of having fibromyalgia need a licensed health care practitioner to authorize their FM/a® Test.

To learn more about the FM/a® Test and these clinical studies, including details on participation, please visit www.FMTest.com or http://www.facebook.com/TheFMTest.

About Fibromyalgia 

Fibromyalgia is a chronic disorder marked by a variety of symptoms that can include chronic diffuse pain, fatigue, sleep disturbances, muscle tenderness, headaches and depression, as well as problems with thinking and memory function. This disorder is known to impact an estimated 6 percent of the population,[i] and it isn’t age, gender or ethnic specific. However, due to a previous lack of diagnostic tools and a common denial of the legitimate existence of fibromyalgia, many believe that this number may in fact be much larger.[ii]

Current treatment options for fibromyalgia are limited, offer only indirect and symptom-limited approaches, and primarily include anticonvulsants, opioids and antidepressants which help only some patients manage the disorder’s symptoms, though they do not treat the cause. Further, several of these treatments carry “Black Box Warnings” regarding their potentially dangerous side effects.

About The FM/a® Test 

The FM/a® Test is the first FDA-compliant, objective blood test to diagnose fibromyalgia. It is a multi-biomarker-based test that analyzes immune system white blood cell production of critical chemokine and cytokine/protein patterns. These proteins demonstrate an abnormal pattern in fibromyalgia patients which the FM/a® Test can identify so it will correctly and objectively diagnose this medical illness. Results of the FM/a® Test are based upon a 1-100 scoring system, with fibromyalgia patients having scores higher than 50. The test has been clinically validated to diagnose fibromyalgia with a 93 percent sensitivity.

The FM/a® Test is a result of research and clinical studies that were performed at the University of Illinois College of Medicine Chicago. It has been recognized by the American Association for Clinical Chemistry (AACC) for “Outstanding Research in Clinical and Diagnostic Immunology.” Peer-reviewed published medical studies have served as the basis of the FM/a® Test, based upon the testing of hundreds of patients.

The FM/a® Test is a Laboratory-Developed Test (LDT) that was developed — and is performed — in a CLIA certified and CAP accredited laboratory. The test fulfills the FDA regulation (21CFR 866.5700) for an immunological test system.

About EpicGenetics

EpicGenetics, Inc. is a privately held biomedical company based in Los Angeles, California, that developed and manufactures the FM/a® Test. EpicGenetics is dedicated to improving the diagnosis and treatment of fibromyalgia by offering the first conclusive diagnostic test for fibromyalgia, and by investing in and developing further comprehensive clinical studies at leading medical research centers. More information is available at www.FMTest.com.

# # #

*UCLA has been engaged to sequence the exomes of research subjects. [i] About Fibromyalgia: Prevalence. National Fibromyalgia & Chronic Pain Association. http://www.fmcpaware.org/fibromyalgia/prevalence.html.

[ii] Arnold LM, Clauw DJ, McCarberg BH, and FibroCollaborative. Improving the recognition and diagnosis of fibromyalgia. Mayo Clin Proc. 2011;86(5):457-464.

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Authored by: Staff

There are 7 comments for this article
  1. Kathy Malles-overcast at 9:57 am

    I don’t really understand all the medical jargon written in these comments and it makes it hard for me to decide if this test is worth having done. I filled out the paper, and the research place did contact me and said, my medicare would pay for the test, but I’d still have a share of cost (for the test) of $50 out of pocket. $50 may not be much to some people, but when a person lives on only $900 a month (in the highest cost of living state in the country) then $ 50 is a lot of money. They also said, that it will be at “least” 3 to 6 years before any kind of vaccine or treatment would be tried out on those people with a positive diagnosis. I’ve lived with Fibromyasia for 16 years, actually longer than 16 years, because it took almost 3 years of living in pain before I was actually diagnosed with it. The research company also said, once treatments were to finally reach the try out stage(3 to 6 years) that I would probably have at least another $45 to 50 dollar out of pocket. I mean I don’t really need a diffident diagnosis of Fibro, I know that I have it, with 18 or 18 trigger points and all the other symptoms that go along with it. As well as I have other medical issues. But to spend $50 now for something that “might” be developed in 3 to 6 years from now and then with all the comments here that I don’t really understand what is being said, I don’t know rather I should bother to get this test. Over the 16 years that I have lived with this pain of Fibro, I’ve been told by Dr.s that it is all in my head, that it is a nerve disease, that it is a neurological disease, that it is an over active disease of the immune system, that it is caused by little nodules of the same substance that bone is made of, that build up between the muscle fiber. I don’t know who to believe!!!…To me, I’ve always believed it is some kind of an undetectable virus (similar to the flue, or Epstein bar virus) that lives within my body. Recently I was told by a neuropathic Dr. that fibromyasia isn’t a disease in it’s self, it is a set of symptoms, being caused by an unbalanced body, that possible has a build up of heavy metals and toxins, ect. So I don’t know who to believe!!! I know for 4 years I was thought to have MS, because an MRI showed white blotches all in my brain, and then 2 different spinal taps, showed abnormalities in my spinal fluid. So they told me the “believed” I had MS, but then the 3rd spinal tap they did, showed a change in my spinal fluid. They said my spinal fluid was still abnormal, but yet it didn’t have something about 3 bands that show up in MS, and so now their diagnosis is “I have “inconclusive” MS! there is no such thing as “inconclusive” MS! So I don’t believe any of these quacks know what is wrong with me. I have tried just about every alternative treatment you can think of, Acupuncture, Hydrogen peroxide I.V. treatments, tons of supplements, Chiropractic, Those Epson salt float chambers, just everything and nothing gives me releif. So does anyone really know if fibro is neurological, Rhemotology (I can’t spell)immuneological…..does anyone know? would it be worthwhile to spend $50 I can’t really afford to spend, to get this test? what is everyone’s opinion about this test and the research company searching for answers of fibro being a neurological issues? Please give me some opinions, like I said the comments above are all written in such medical Jargon, that I can’t comprehend what they means, I can’t figure out if their saying this would be a waste of time and effort, or if their agreeing that this research company is on the right track. sixteen years of living with this, and only being let down over and over and over again, is pretty darn frustrating. Heck a few weeks back this site(national pain report) ran an article about “greed lights” being beneficial, so I bought a few green light led strips an having then hanging in my small office area, and turn then on a couple hours a day, to expose myself to them, just to see if there is anything to that remedy. Haven’t really noticed anything, but still trying. Sorry this is so long…I’m just so frustrated…please can anyone advise me, or give me their opinion as to getting or not getting this test for Fibro? Thanks for your time.

  2. Dave at 9:42 am

    Mr Quintner is a rare bird in todays world of medicine as he has the integrity to do his own independent and critical thinking. I believe he is on target when he points to the ship of fools in fibromyalgia research. It is clear to me there is a lack of intelligence in fibro research and in pain research. There is a lack of courage and commitment to a much different and better future for people in pain. We need to remoralize and revolutionize pain research and discard inadequate methods pf the past and present.

  3. John Quintner, Physician in Rheumatology and Pain Medicine at 3:16 pm

    According to the Press Release: “The FM/a® Test will consequently not only serve to objectively confirm the diagnosis of fibromyalgia, but also act as the gateway for fibromyalgia patients through these newly announced research efforts to participate in genetic studies to further define their disease.”

    This confident assertion raises the important question as to why the FM/a® Test has never been endorsed by the American College of Rheumatology nor by any other official professional rheumatological body or association.

    Is it any wonder that the skepticism I originally expressed as to the usefulness of the test has not been dispelled?

    Link: https://www.arthritiswa.org.au/news/view/fact-or-fiction-the-fm-test.html

  4. John Gaspary at 5:20 am

    “There has been very little innovation over the past several decades to help patients better understand and manage their fibromyalgia,” said Frederick G. Behm, M.D., the Frances B. Geever Professor ..”
    By contrast John Quintner, Milton Cohen and their confreres have shone a light on the vast amount of misinformation about fibromyalgia that has prospered in the past few decades. Their evolutionary perspective offers a completely new way of thinking about it. The casual reader in indeed lucky if they come across some of their work. Far from creating confusion they offer a way out of the mire of pseudo science and circular argument that plagues even peer reviewed journals.

  5. John Quintner, Physician in Rheumatology and Pain Medicie at 11:41 pm

    Robert, you do need to know that in my opinion your comments are both untrue and highly defamatory.

    In order to put the matter straight, you might like to carefully read the following article and withdraw your comment, perhaps with an apology(?).

    TITLE: Evolution, Stress and Fibromyalgia

    Adapted from: Lyon P, Cohen M, Quintner J. An evolutionary stress-response hypothesis for Chronic Widespread Pain (Fibromyalgia Syndrome). Pain Med 2011; 12: 1167-1178.

    Despite affecting huge numbers worldwide and being researched extensively over 25 years, fibromyalgia syndrome (FMS) remains a problematic construct, for clinicians and patients alike.

    Characterised by persistent widespread pain and tenderness disproportionate to
    demonstrable tissue damage, of which there may be none, the syndrome often includes sleep disturbance, fatigue, ‘irritable bowel,’ cognitive and affective changes, and, less frequently, skin disorders.

    Without a cogent model of pathogenesis for this complex syndrome, effective treatment remains elusive. An evolutionary approach provides insight.

    Several clinical features of FMS accord with “sickness behavior,” found widely in the animal kingdom, which is the observable manifestation of physiological processes working to restore proper functioning.

    Sickness behavior is part of the organism’s response to some sort of stressor (threat, disturbance), which may be perceived via innate immunity or cognitively. The building blocks of the human stress response (i.e., cytokines, neurotransmitters, hormones) are evolutionarily ancient.

    The systems that underlie the human stress response (SR) are multiple, co-modulatory and co-regulatory. Almost from the moment a SR is activated, countervailing processes also activate, to ensure that the dramatic molecular events marshaled to save the animal don’t damage the animal. This is because many molecular actors involved in SRs are ‘double-edged,’ and can have negative as well as positive effects on organism functioning. The response to stress thus is designed to engage, repair, and then stop (resolve).

    When an SR is prolonged in any organism, for whatever reason, profound changes occur in functioning and behaviour. Chronic SR activation in humans is associated with some of the most medically important diseases in the developed world, including cardiovascular disease, type 2 diabetes, and metabolic syndrome.

    One of the ‘double-edged’ molecules involved in vertebrate SRs and associated with a wide variety of chronic human diseases is substance p (SP), a deeply conserved neuropeptide also found in insects and molluscs.

    In humans, SP operates in both the central and peripheral nervous systems. With its preferred receptor neurokinin-l (NK1R), SP is involved in a staggering range of defensive mechanisms, including cytokine release, cell manufacture and migration to sites of injury, mast cell granulation, edema, vomiting, gut contraction, cell death, and aversive reinforcement learning.

    Its importance to human functioning is reflected in ontogeny: SP is one of the first neurotransmitters to appear in foetal development, before other SR actors, including corticotropin-releasing hormone, adrenaline, noradrenaline, dopamine, and serotonin.

    The relevance of SP for understanding FMS is three-fold:

    (i) elevated SP in cerebral spinal fluid is the most reliable biomarker of FMS. Patients typically have SP levels 2-3 times those of healthy controls.

    (ii) SP is highly correlated with the common co-morbidities of FMS, including
    depression, sleep disturbance, irritable bowel and psoriatic skin disorders.

    (iii) recent research shows that SP is necessary for the development of central
    sensitization in the spinal cord’s dorsal horn. Central sensitization is widely thought to be the most promising explanation of how chronic pain is induced.

    From this perspective, FMS can be seen as a clinical outcome of prolonged activation, or dysregulation of a complex, evolutionarily conserved system designed to defend the organism against threat. There are several explanatory benefits to such a view.

    First, this perspective explains why a chronically activated or unresolved SR might manifest as labile widespread pain in association with other co-morbidities.

    Second, it explains the clinical overlap of FMS with post-traumatic stress disorder, which is also associated with elevated CSF-SP.

    Third, because SR systems are among the most genetically and phenotypically variable systems in biology, this perspective may help to explain the great differences between individuals in clinical presentation. SR systems in mammals are highly susceptible to modification in early development, producing different stress reactivity profiles, so childhood exposures to stressors, including serious disease or injury, may be relevant to clinical presentation.

    The SP/SR hypothesis may help to explain why SP and NK1R antagonists did not fulfil their promise as treatments for FMS. SP/NK1R participates in many defensive systems important to whole-organism functioning, not just chronic pain, and they work in combination with many other molecules.

    Finally, the hypothesis might also help to explain why certain holistic, non-pharmacologic therapies (e.g., patient education, cognitive-behavioural therapy, mindfulness/relaxation) appear to help a substantial proportion of patients, particularly when combined with exercise. It takes a system to treat a system.

    Authors: Pamela Lyon, Visiting Research Fellow, Social Epidemiology and Evaluation Research Group, University of South Australia; Milton Cohen, Specialist Pain Medicine Physician and Rheumatologist, St Vincent’s Campus, NSW; John Quintner, Consultant Physician in Rheumatology and Pain Medicine, Pain Medicine Unit, Fremantle Hospital.

  6. John Quintner at 5:48 pm

    Is fibromyalgia really a “neurological disorder”?

    As far as I am aware, no such consensus has ever been reached.

    But there is currently a vigorous debate taking place over a third descriptor designed to accommodate the pain of those in whom there is no discernible evidence of either ongoing nociception or of neuropathy.

    Here is a link that may be useful for those who are interesting in following this debate: http://www.fmperplex.com/2016/08/23/why-centralized-is-unacceptable-as-a-descriptor-for-the-pain-of-fibromyalgia/

    P.S. SA far as I am aware, the above-mentioned test has not been endorsed by the American College of Rheumatology nor by any other official professional rheumatological body or association.

  7. Dave at 11:38 am

    Bcg virus for fibro is interesting and a significant change from the neurocentric model of aberrant brain signaling. Nonetheless bcg wont be enough to restore normal functioning as fibro involves numerous pathways. I think the key is to assess malfunctions and address them accordingly as well as build overall wellbeing.

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