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What is Pharmacogenomics (PGx) Testing?

What is Pharmacogenomics (PGx) Testing?

by | May 10, 2021 | Genetics, Healthcare

Our understanding of human DNA and how our genes impact our health has grown exponentially over the past few decades. From these discoveries, a key area of research has emerged known as pharmacogenomics—the study of how genes affect the body’s response to certain medications.

Just as your genes determine the basic truths of your biology—things like your height and eye and hair color—genes also determine how your body reacts to certain medications. No medication works the same for everyone; in fact, results can vary widely.

Although more than 5 billion prescriptions are filled each year1, response rates for many drugs are only 50-75%2. It is estimated that ineffective medications produce an additional $528 billion in healthcare costs each year.3

Pharmacogenomics (PGx) testing looks at specific genes that affect the body’s response to certain medications. This information can be used by your healthcare provider to:

  • Determine which medications are most and least likely to be effective for you
  • Determine what the best dosage might be for you
  • Predict whether you will have a serious side effect from a medication

Research has shown that >90% of patients possess clinically actionable genetic variants that affect their drug response.4,5

How Genes Predict Drug Effectiveness

Each of us has a system of proteins that influence how we metabolize, transport, and respond to medications in our bodies. Using genetics to understand these proteins makes it possible to predict how effective a medication will be.

Studies have shown that a family of liver enzymes called Cytochrome P450 (CYP450), which is largely responsible for neutralizing impurities in the blood, conduct about 90% of drug metabolization.6

Your body sees medications as impurities. As soon as a medication hits your bloodstream, your CYP450 begins breaking it down. How much of a given CYP450 enzyme your body produces is determined by your genes. In general, if you have a lot, it will clean medications out of your bloodstream quickly. If you have only a little, the medication will build up over time.

Typically, medication dosages are set for people with an average level of CYP450 enzymes. PGx testing helps your healthcare provider determine if your dose needs to be increased or decreased and whether a medication that works for most people might be ineffective or even dangerous for you.

Scientists have classified CYP450 enzymes into three primary categories:

  1. Rapid metabolizer: A rapid metabolizer breaks down medications very quickly, which means your body may not be exposed to enough of it and the medication won’t be as effective.
  2. Slow metabolizer: A slow metabolizer breaks down medications very slowly. As a result, medications metabolized by these enzymes might remain in the body longer, which could lead to adverse side effects.
  3. Extensive metabolizer: An extensive metabolizer breaks down medications at what is considered a ‘normal’ rate. Ideally, providers should consider choosing medications that fall in this category.

Benefits of Pharmacogenomics Testing

One of the areas PGx testing is revolutionizing is in mental health treatment. Anxiety disorders are one of the most common psychiatric disorders in the U.S. Approximately 40 million American adults have some form of anxiety disorder.7

The good news is that there are many different psychiatric medications available to help patients with anxiety. The bad news is that it can be challenging to find the right medication and dosage that both maximize effectiveness and minimize side effects and adverse drug reactions.

As a result, psychiatric medication is often prescribed on a trial-and-error basis, with healthcare providers monitoring the patient’s response and then adjusting medications or doses as needed. This process can be frustrating, time-consuming, expensive, and can potentially make the patient’s condition worse before the right combination is found. In fact, 50% of depression patients do not respond to the first medication they try.8

Instead of going through the painstaking process of trial and error, pharmacogenomics testing can help providers select medications and dosages most likely to be effective from the start.

One study showed that on average, patients with mood/anxiety disorders using PGx testing have a ~$2,000 reduction in health care costs, 40% reduction in ER visits, and a 60% reduction in hospitalizations.9 In a separate study, individuals who received PGx-guided decision support tools therapy were 1.71 times more likely to achieve symptom remission relative to individuals who received treatment as usual.10

LifeKit® PreScript from SOLVD Health

SOLVD Health is driving innovation and making health possible by helping healthcare providers use genetic testing to identify the best possible treatment paths for their patients. SOLVD Health’s LifeKit® PreScript is a genetic test that helps providers, based on their patient’s DNA, identify which medications are most likely to be effective and which should be avoided.

Using a simple cheek swab sample, LifeKit PreScript analyzes 14 genetic variants that impact how a person’s body metabolizes medication. Providers receive a detailed report that indicates how an individual will respond to the medications they are currently prescribed, as well as any medications being considered for future use, to help support more informed decision-making about drug selection. The result is a treatment designed specifically for you.

References:

1IMS Institute for Healthcare Informatics
2Spear BB, Heath-Chiozzi M, Hu J: Clinical application of pharmacogenetics. Trends Mol. Med.7, 201–204 (2001).
3Watanabe, J. H., et al. Cost of Prescription Drug–Related Morbidity and Mortality. Annals of Pharmacotherapy. 2018; 52(9), 829–837.
4Van Driest, SL, et. al., Clin Pharmacol Ther. 2014; 95(4): 423–431.
5Yuan, J. et. al., Jmol Diag. 2016; 18(3): 438-445.
6Lynch, T., & Price, A. (2007). The Effect of Cytochrome P450 Metabolism on Drug Response, Interactions, and Adverse Effects. American Family Physician, 391–396. https://www.aafp.org/afp/2007/0801/p391.html
7Anxiety and Depression Association of America. (n.d.). Facts & Statistics. Anxiety and Depression Association of America, ADAA.
8Perlis et al. Pharmacogenetic Testing Among Patients With Mood and Anxiety Disorders Is Associated With Decreased Utilization and Cost: A Propensity-Score Matched Study. Depression and Anxiety. 2018; 35(10), 946–952.
9Bousman et al. Pharmacogenetic tests and depressive symptom remission: a meta-analysis of randomized controlled trials; Dec 2018 https://doi.org/10.2217/pgs-2018-0142
10Trivedi MH, Rush AJ, Wisniewski SR, et al. Evaluation of outcomes with citalopram for depression using measurement-based care in STAR*D: implications for clinical practice. Am J Psychiatry. 2006;163(1):28-40.

What is an FDA Breakthrough Device Designation?

What is an FDA Breakthrough Device Designation?

by | Dec 23, 2020 | Healthcare

The Food and Drug Administration (FDA), an agency within the U.S. Department of Health and Human Services, is responsible for protecting and promoting public health by assuring the safety, effectiveness, quality, and security of human and veterinary drugs, vaccines and other biological products, and medical devices. As part of its mission, the FDA is also responsible for helping speed innovations to market that make medical products safer, more effective, and more affordable.

To help patients receive more timely access to these innovations without compromising safety, the FDA created the Breakthrough Devices Program. This voluntary program was designed to help expedite the development, assessment, and review of breakthrough technologies, while preserving the regulatory standards for premarket approval (PMA), 510(k) clearance, and De Novo marketing authorization.

Launched in 2018, the Breakthrough Devices Program replaced the Expedited Access Pathway and Priority Review for medical devices. Devices granted designation under the Expedited Access Pathway are now considered by the FDA to be part of the Breakthrough Devices Program.

Providing Timely Access to New Medical Breakthroughs

FDA Breakthrough Device designation is granted to novel medical devices that have the potential to provide more effective treatment or diagnosis of life-threatening or irreversibly debilitating diseases or conditions. This includes devices subject to premarket approval applications (PMAs), premarket notification (510(k)), or requests for De Novo designation. To be eligible for Breakthrough Device designation, both of the following criteria must be met:

  1. The device provides for more effective treatment or diagnosis of life-threatening or irreversibly debilitating human disease or conditions
  2. The device also meets at least one of the following:
    1. Represents breakthrough technology
    2. No approved or cleared alternatives exist
    3. Offers significant advantages over existing approved or cleared alternatives
    4. Device availability is in the best interest of patients

Benefits of the Breakthrough Devices Program

The Breakthrough Devices Program is comprised of two phases. The first is the Designation Request phase, in which an interested sponsor of a device (usually a company) requests that the FDA grant that device Breakthrough Device designation. The second phase encompasses actions to expedite development of the device and the prioritized review of subsequent regulatory submissions.

The Breakthrough Device designation basically allows companies to benefit from additional FDA input as they work to validate the safety and efficacy of their devices during premarket development, as well as during the submission process, and then expedited review once the submission for the device is filed.

New Medicare Coverage Pathway Finalized for Breakthrough Devices 

For companies with breakthrough-designated devices, recent changes to how the Centers for Medicare & Medicaid Services (CMS) approaches the reimbursement of these devices is another significant benefit. The Medicare Coverage of Innovative Technology (MCIT) (CMS-3372-P) rule finalized January 12, 2021, established a new Medicare coverage pathway that provides Medicare beneficiaries nationwide with covered access to medical devices designated as breakthrough by the FDA. The new MCIT pathway begins national Medicare coverage on the date of FDA market authorization and continues for four years.

Under previous rules, FDA approval of a device was usually followed by a lengthy and costly process to achieve Medicare coverage. The lag time between FDA approval and Medicare coverage has been referred to as the “valley of death” for innovative products. However, under the new MCIT rule, Medicare will provide national coverage simultaneously with FDA approval.

Number of Breakthrough Device Designations in the U.S.

Although the FDA doesn’t make Breakthrough Device designations public (companies can choose to keep their designations private), according to an article published May 27, 2020, nearly 300 Breakthrough Device designations have been granted during the program’s history, including 50 in 2020 as of May 27. In 2019, 136 designations were granted, along with 55 in 2018 , 19 in 2017, and 11 in 2016.

SOLVD Health’s Breakthrough Device Designation for Opioid Use Disorder

SOLVD Health currently holds two of these Breakthrough Device designations. The first was awarded in 2018 for the company’s genetic risk assessment for opioid use disorder (OUD), which is designed to identify patients at increased genetic risk for opioid addiction. The test represents breakthrough technology because it offers higher sensitivity and specificity than other currently used risk assessment tools and is in patients’ best interests because it could help prevent high-risk exposure to oral prescription opioids and subsequent addiction.

Our genetic risk assessment for OUD is currently undergoing expedited review by the FDA. If it receives marketing authorization, it will join a dozen* or so other breakthrough-designated devices that have gone on to achieve final marketing approval.

SOLVD Health’s Breakthrough Device Designation for Detection of Colorectal Cancer and Precancerous Adenomas

The second designation was awarded in 2019 for the company’s test to detect colorectal cancer and precancerous adenomas. The test represents breakthrough technology because it’s the first test to use the gut microbiome to detect precancerous and cancerous lesions in the colon, offers higher specificity and sensitivity for advanced adenomas than other tests currently on the market, and is in the best interest of patients because it could help prevent colorectal cancer through early detection of advanced adenomas.

*as of September 2019