Introduction
BH Genetic Services is a division of BH Health Solutions. At BH Health Solutions our goal is to reduce healthcare costs for employers by 30%. To accomplish this, we have developed a technology platform that automates many of the functions that currently are manual, providing scalability for even the largest employers. Added to our savings goal, we have integrated a suite of integrated health and wellness services to target the areas where savings can be achieved. We call this “The Power of the Platform™”.
What is PGx Testing?
PGx stands for pharmacogenomics. The term “pharmacogenomics” is combined from “pharmacology” (the study of the uses and effects of medications) and genomics (the study of genes and their functions).
There are two terms that are very similar that are frequently used in this field of study. Pharmacogenetics usually refers to how variations in a single gene influence the response to a single drug. Pharmacogenomics is a broader term which studies how all a person’s genes (their genome) can influence responses to drugs.
What is the Genesis of DNA PGx Testing?
Most people have heard of the Human Genome Project. This was a project started by the US government to map and sequence the entire human genome. This process took fifteen years to complete at a cost of nearly $3 billion. The first human genome sequence was completed in 2003. In 2008, it still cost $10 million to sequence a single person’s entire genome. Today we can accomplish the same thing in a matter of a few days with a cost of under $1,000.
Through the process of the development of genome-wide technologies and research on the underlying genetic difference in drug response, we began to expand beyond focusing on DNA sequence variation. We now have advanced knowledge about how certain genes and their enzymes play a role in how our bodies metabolize drugs.
The benefit? Physicians can now prescribe with confidence the right drug, at the right dose, for the right patient.
The 3 Steps in the PGx Testing Process
There are three important steps in the PGx testing process: drug metabolizing genotyping; drug response genotyping; and algorithmic screening.
Drug Metabolizing Genotyping
In drug metabolizing genotyping, analysis is done to determine patient-specific genetic variants that influence the function of the drug metabolizing enzymes. This determines the metabolic phenotypes, of which there are four: Ultrarapid Metabolizer (“UM”); Extensive Metabolizer (“EM”, which is the most common); Intermediate Metabolizer (IM”); and Poor Metabolizer (“PM”).
Understanding a person’s metabolizer phenotype is important, as it will indicate how much of a drug is active in the body to produce either therapeutic or toxic effects.
The term for drug metabolizing genotyping is also called Pharmacokinetics, which describes the body’s impact on a drug.
Drug Response Genotyping
In drug response genotyping, the analysis is done to determine patient-specific genetic variants involved in the way medications work at the biological site of action. This will indicate the likelihood of a therapeutic or adverse drug response.
The term for drug response genotyping is also called Pharmacodynamics, which describes the drug’s impact on the body, and considers the likelihood of a drug producing the desired therapeutic effect.
Algorithmic Screening
What algorithmic screening does is to screen for metabolic interactions caused by concomitant prescriptions, OTC, & herbal medications that may significantly alter the metabolism of approved medications. It will identify CYP450-mediated metabolic interactions that can alter which medications are optimal for each patient.
Cytochrome P450 Enzymes and Their Importance
Cytochrome P450 enzymes, usually referred to as CYP450, are essential for the metabolism of many medications. Although this class has more than 50 enzymes, the CYP1A2, CYP2C9, CYP2C19, CYP2D6, CYP3A4, and CYP3A5 enzymes metabolize 90 percent of drugs. The two most significant enzymes are CYP3A4 and CYP2D6. Cytochrome P450 enzymes can be inhibited or induced by drugs, resulting in clinically significant drug-drug interactions that can cause unanticipated adverse reactions or therapeutic failures. That is why we test these 6 enzymes in every PGx test we run.
The simplest way to describe PGx testing is that it provides the means for personalized medicine.
The Personalized Medicine Approach
Our PGx testing provides personalized medication guidance in the following therapeutic areas:
- Cardiovascular disease: hypertension, hyperlipidemia, arrhythmia, thrombophilia, and blood coagulation disorder
- Neuropsychiatric disorders: depression, anxiety, ADHD, bipolar, and seizure disorder
- Pain: musculoskeletal, arthritis, migraine, neuropathic, and opioids
What Disease States are Tested?
The following chart shows the disease states that are tested:
| Cardiovascular Disease |
Neuropsychiatric Disorders |
Pain |
| Hypertension | Depression | Musculoskeletal |
| Hyperlipidemia | Anxiety | Arthritis |
| Arrhythmia | ADHD | Migraine |
| Blood Coagulation Disorders | Bipolar Disorder | Neuropathic |
| Thrombophilia | Seizure Disorder | Opioids |
What Does PGx Testing Do?
The purpose of PGx testing is to develop effective, safe medications and doses that will be tailored to an individual person’s genetic makeup. The laboratory looks for changes or variants in one or more genes that can affect a patient’s response to certain medications.
The PGx test uses a simple saliva sample that can help determine:
- If a medication will offer an effective treatment
- The correct dosage of a medication
- If there could be serious side effects from a medication
The Connection Between Metabolism and Drug Response
Our genes determine everything about our bodies. They determine our eye color, our hair color, and our blood type, among many other things. Some genes are responsible for how our body metabolizes medications. Based on our genetic makeup, a person’s body may break down a specific medication too slowly (a Poor Metabolizer), causing the medication to build up in the body causing a severe side effect.
Another person’s body may break down the same medication too quickly (an Ultrarapid Metabolizer), not allowing it to work effectively. Another person’s body may be predisposed to life-threatening side effects from a medication.
A good example is in treating high cholesterol. A doctor might prescribe one of many statin medications to lower the risk of a heart attack. Some of these drugs can have significant side effects if they are not right for the patient. Finding that out can be expensive, time-consuming and could delay receiving proper and effective treatment.
Pharmacogenomics offers a better way. A genetic test can show how your body is likely to respond to a certain statin that treats high cholesterol. That helps your doctor prescribe the right dose of that medication or even a different medication to get the best results for you.
To put this example of high cholesterol into perspective, in one study it was found that 53% of patients required changes in their medications based on their PGx tests, while a full 50% were able to reduce their medications.
The Problem
In the U.S. we currently spend over $300 billion dollars annually on prescription drugs. PGx testing replaces the traditional clinical practice of “trial and error” pharmaceutical drug therapy on patients with a customized and intelligent solution that analyzes the most detailed relationships between a patient’s unique DNA and complex metabolic pathways.
This customized approach helps to solve the millions of adverse drug reactions in the U.S. Each year we see over 2.2 million adverse drug events leading to 5-7% of all hospitalizations. The result is over 770,00 injuries and over 100,000 deaths annually in the U.S. alone. The cost to hospitals is a staggering $5.6 million per hospital.
One Solution
One solution to this problem is called PGx testing, which provides a clear path from “trial and error” to personalized medicine. PGx tests provide a significant advancement in the delivery of care and will help reduce adverse drug events while improving health outcomes.
The Case for Personalized Medicine
Personalized medicine utilizing PGx testing can address a significant unmet need by improving efficiency and safety, reducing healthcare costs, and promoting patient adherence. Some of the advantages of genetic testing include:
- Patients are likely to be prescribed the optimal dosage and avoid over-medication and the use of unnecessary medication
- Increased compliance as people will feel better on their medications
- Employees will have reduced chances of experiencing adverse effects including decreased hospitalization cost and loss of productivity
- Ensuring the genetically appropriate drug treatment program also minimizes the chances of drug abuse and addiction
Drug efficacy varies widely among patients. For example, the following is a list of the percentage of a patient population for which a particular drug is ineffective:
- Antidepressants: 38%
- Asthma drugs: 40%
- Diabetes drugs: 43%
- Arthritis Drugs: 50%
- Alzheimer’s drugs: 70%
This shows us that across therapeutic areas drugs are ineffective in about 38% to 70% of patients.
Adverse Drug Events (“ADEs”) have risen substantially along with the number of prescription medications. Here are the raw numbers:
- 85% of ADEs are due to drug dosages and mechanisms of action
- 6.7% of hospitalizations are caused by ADEs
- ADEs rank between the 4th to 6th most common cause of inpatient death
An ROI Especially for Employers
Employers, whether fully insured or self-insured, face the same problem: the rising cost of healthcare, and especially, the cost of prescription medications. In addition, employers have the same demographic of employees as the U.S. population.
Obesity is just one example. More than one-third of adults age 20 and over are obese, while more than two-thirds of adults age 20 and over are either obese or overweight. The healthcare cost for treating obesity is more than $200 billion per year. Drug costs alone for treating obesity are triple that of normal-weight men.
What if we could show you, an employer, an ROI that will lower your healthcare costs and create a healthier employee community, before spending a penny? We can deliver that ROI.
We have developed BH Health Cloud™, a cloud-based platform that analyzes your employee population (while remaining HIPPA compliant) and show you which employees would benefit the most from a PGx test, and what the expected reduction in pharma claims can be.
And that reduction in pharma claims is just the start. It is a domino-like effect. When pharma claims are reduced and employees become healthier, other healthcare costs are reduced.
Conclusion
We started by mentioning our goal: save 30% on healthcare costs. The modern science of DNA sequencing and applying it to PGx testing along with the other services we offer through “The Power of the Platform™” will help make this goal a reality.
For employers, this is the opportunity to test your employees and reap not only the benefits of healthcare savings, but of having healthier, happier, and more productive employees. And what price can you put on that?
BH Genetic Services: One Platform. One Solution. Smart Healthcare™.
testLast modified: October 18, 2017
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