New patent-pending, real-time polymerase chain reaction (PCR) technique can accurately detect the human leukocyte antigen HLA-A*31:01 genetic variant, reducing the 40% false positive rate associated with the industry testing approach. Genomind’s® Professional PGx Express™ is now the only mental health pharmacogenetics (PGx) test using this capability in the market. Given the recent positive coverage decisions by major health insurers, Genomind will be leading national education efforts to make this innovation widely available to clinicians and patients
KING OF PRUSSIA, Pa., Sept 10, 2020– Genomind®, the leader in comprehensive genetics and digital mental health services, has pioneered a new level of specificity and accuracy for cheek swab-based pharmacogenetics tests.
Genomind’s Professional PGx Express test provides clinicians with a comprehensive report of up to 24 genes that delivers important prescribing guidance designed to help reduce the traditional process of trial and error with mental health medications. Genomind has served over 15,000 clinicians and tested over 270,000 patients for this important treatment guidance. The FDA includes pharmacogenetic biomarker warnings, precautions and drug-drug interaction guidance on the labels of over 270 medications.
Two of the most important genetic variants which Genomind’s Professional PGx Express tests for are HLA-B *15:02 and HLA-A*31:01. These genes are part of the complex human leukocyte antigen (HLA) system that is among the most highly variable DNA regions in humans and is central to autoimmune diseases and transplant rejection. Both of these variants are associated with an increased risk of serious, sometimes fatal, skin reactions such as Stevens-Johnson syndrome and toxic epidermal necrolysis, in the presence of carbamazepine (as well as oxcarbazepine and phenytoin for HLA-B*15:02).
Carbamazepine is indicated for the treatment of epilepsy and trigeminal neuralgia, and is commonly used for individuals with mood disorders, such as bipolar disorder. It is on the World Health Organization’s List of Essential Medicines1 and was prescribed over 3.5 million times in 2019, a number that experts say will increase in 2020. 2
In contrast to HLA-B*15:02, the HLA-A* 31:01 allele is more common in Caucasians, while also occurring in individuals of Hispanic/South American and East Asian descent. Carbamazepine’s FDA label contains warnings about this gene-drug pair, as does the Clinical Pharmacogenetic Implementation Consortium (CPIC).
Until recently, commercial PGx assays commonly tested for this allele using a surrogate tag SNP (single nucleotide polymorphism) method. During a recent validation exercise, Genomind identified a very high false positive rate of approximately 40%, with this common industry method. This means with the traditional testing method, 40% of the positive tests would incorrectly identify someone as being at risk of serious adverse events with carbamazepine treatment, thereby inappropriately excluding a potentially useful agent.
Genomind’s CEO Shawn O’Brien was inspired to find a better solution. “Our company is all about our ‘I-CAIRE’ culture (integrity, collaboration, accountability, innovation, respect and excellence), so when we discovered this shortcoming in the industry, we immediately set about finding a better solution to help more clinicians and patients.”
Genomind scientists, led by CSO Dr. David Robbins, developed an innovative and proprietary real-time PCR (polymerase chain reaction) test that is highly specific for HLA-A*31:01. The increased specificity of this assay also makes the need for confirmatory testing unnecessary for individuals testing positive. In validation testing of this new and improved assay, specificity and sensitivity were 100%. In real-world testing we expect specificity to be >99%. This means we will be able to reduce the 40% of false positives down to a fraction of a percentage.3 This PCR-based testing was validated by comparing random anonymized patient samples with HLA typing by Next Generation Sequencing (NGS) through a third party lab. FDA considers NGS as the gold standard for HLA typing. The validation was further supported by testing samples from the Coriell Institute for Medical Research with documented rare and common HLA-A types. Genomind filed a patent on this important breakthrough and is the only comprehensive mental health genetics test with this capability on the market.
“This novel innovation uniquely provides much greater accuracy in identifying patients at risk for a serious drug reaction and provides greater and safer access of a potentially helpful medication, carbamazepine, for individuals previously thought to be at risk” said Dr. Scott Aaronson, MD, Clinical Assistant Professor of Psychiatry at the University of Maryland School of Medicine and Distinguished Fellow of the American Psychiatric Association.
With Medicare’s recently published new Local Coverage Determination allowing coverage of tests like Genomind’s, and with United Healthcare’s positive coverage policy, the Mental Health PGx industry is expected to see major growth. Therefore, it is critical that clinicians have access to the most accurate and specific PGx results.
To this end Genomind is offering a major national digital education effort for clinicians and patients. They are starting with their 15,000 clinicians and providing education materials, access to their acclaimed scheduled consults, and free access to their state-of-the-art precision medication management software. Genomind will also be reaching tens of thousands of the highest prescribers of mental health medications and millions of potential patients with their digital communications engine that generates millions of hits and video views on their website annually. Genomind is offering all their advanced services and software to any new registering clinician.
Genomind is a leading precision mental health company singularly focused on filling the innovation gap in mental health care through novel, genetics-based tools. Supported by a world-class genetics lab, a unique heritage of clinical mental health expertise, clinical collaboration and consultation, state-of-the-art digital tools and telemental health enabling services, Genomind is empowering a new standard of care. Its flagship product, Genomind Professional PGx Express, is the most comprehensive pharmacogenetic testing service helping medical professionals personalize patients’ mental health treatment. The Company also recently launched Genomind Mental Health Map – a breakthrough direct-to-consumer test that enables a new and better understanding of the biological basis of mental wellness, coupled with personalized actionable guidance to help people improve health and wellness. Learn more at www.genomind.com.
(1) World Health Organization (2019). World Health Organization model list of essential medicines: 21st list 2019. Geneva: World Health Organization. hdl:10665/325771. WHO/MVP/EMP/IAU/2019.06. License: CC BY-NC-SA 3.0 IGO.
(2) “Carbamazepine – Drug Usage Statistics”. ClinCalc. Retrieved 11 April 2020.
(3) This fraction of a percent represents the real world use HLA-A*31 types other than 31:01 (ie. HLA-A*31:04, 31:12, and 31:16) which may rarely cause false positive results. That being said, it is not known if these types are associated with skin disorders following use of carbamazepine.