Pharmacogenetics (also known as pharmacogenomics) is one of the most exciting frontiers of medical research and benefits plan design. Its goal is to understand how each person’s genes will affect their response to a drug before they take the drug. Will they experience severe side effects? Will the drug have a neutral or negative effect on their health? Or are they likely to get a benefit from taking the drug, with any “cons” outweighed by “pros”?
As pharmacogenetics research progresses, it’s likely that more and more people will have access to precision prescriptions for the drug and dose that will work best for them. Clearly, knowing in advance how tolerable and effective a drug is likely to be is a clear benefit to a plan member. It can also help plan sponsors control employee benefit costs by allowing drug dollars to be directed to where they’re most likely to help. Let’s take a deep dive into how pharmacogenetics works and how it can provide benefits when controlling employee benefit costs.
How do genes affect how you react to medications?
Taking a prescription drug prompts a reaction in your body. Among the thousands of genes you inherited from your parents are some that will have an impact on different parts of the process that integrates the drug into your system (how you metabolize it) – and, therefore, affect how well or poorly you respond to the drug.
How well the drug attaches to cells
Drugs often have to attach to protein receptors on the surface of cells in order to have an effect. Genes determine the type of number of receptors someone has. Too few and a higher dose may be necessary for the drug to work. None at all may mean the drug will have no effect.
How well the drug enters cells
Drugs may also need to get inside cells to do the work they need to do. Cell “uptake” also varies depending on genes. If a drug can’t enter cells or expels them too quickly, the drug will have no or less effect. Less uptake may also mean a drug that can’t get into its destination cells builds up elsewhere, causing harm.
How quickly the drug breaks down
Drugs need to stay in your body for a certain amount of time to have an effect. Genes make a difference to how quickly a drug breaks down. Too fast and a higher dose (or different medication) may be necessary. Too slow and a lower dose may be essential to avoid serious side effects.
What does pharmacogenetic testing look for?
Pharmacogenetic testing is distinct from genetic testing, which can help with diagnosis or determine whether someone is susceptible to developing a disease. The focus with pharmacogenetics is on finding out how someone will respond to a drug in advance of filling a prescription.
Specifically, it’s directed towards discovering:
- If a certain medication will be effective
- If it will cause serious side effects
- The optimal dose
Pharmacogenetic testing only helps with prescriptions for some medications. Specific genes have been linked to responses to certain blood thinners, antidepressants, epilepsy medicines, antipsychotics, attention deficit disorder treatments, opioids, statins, and certain treatments for breast cancer, childhood leukemia, HIV and some autoimmune disorders.
The test itself generally requires nothing more than a cheek swab. In the lab, technicians extract DNA from the saliva sample and run it through genomic sequencing. Depending on the test that’s ordered, they may focus on a single gene or a panel that includes several genes.
How can plan sponsors save money with pharmacogenetics?
Since pharmacogenetics assists with many therapeutic areas that contribute significantly to benefits plan expenses because of either high incidence rates or high drug costs – from mental health conditions to certain cancers to cardiovascular disease to autoimmune disorders – it can be a powerful cost containment tool.
Testing can be targeted towards genes that affect the metabolism of medications used to treat diseases that are significant drivers of disability in the workplace. For example, treating a condition such as depression with the right drug and dose the first time has the potential to shorten or eliminate costly short-term disability and long-term disability claims. Optimal treatment for any condition can decrease absenteeism and increase productivity at work.
Pharmacogenetic testing can be especially helpful with chronic diseases that have multiple possible treatments. Just because someone doesn’t respond well to one drug doesn’t mean they won’t respond well to all drugs for a given condition. Skipping the trial and error phase and getting people directly onto the drug that’s best for them can help employees feel better faster and slow the progression of a disease.
Importantly, choosing a drug based on pharmacogenetic testing and avoiding serious side effects does two things: it improves patient safety and it can boost medication adherence. Taking medications as prescribed is critical to ensure someone gets the maximum benefit from a specific drug and that your plan’s drug spend is used to greatest effect.
What impact does pharmacogenetics have when put into action?
Two recent studies looked at how pharmacogenetics can benefit plan members and plan sponsors.
Green Shield Canada tested pharmacogenetics-guided mental health treatment delivered by pharmacists against a control group who received drug optimization based on a pharmacist’s clinical judgement. The pharmacogenetics-guided group experienced a 36% improvement in Patient Health Questionnaire (PHQ-9) scores (compared to 18% for the control group), a 41% improvement in Generalized Anxiety Disorder Scale (GAD-7) scores (compared to 23% for the control group), and a 44% improvement in Sheehan Disability Scale (SDS) scores (compared to 18% for the control group).
When Manulife introduced a personalized medicine program that includes pharmacogenetic testing, they found that more than half of tested plan members (53%) changed their mental health medication. Among those who made a switch, more than four in five (82%) said their symptoms improved. Manulife estimates that its program, which also provides personalized support from pharmacists who discuss test results with plan members and their doctor, has a potential return on investment of 6:1.
These strong results suggest there’s a place for pharmacogenetic testing in benefits plans – and the Sanofi Canada Healthcare Survey found as far back as 2019 that nearly three-quarters of employees (74%) would accept pharmacogenetic testing to help their doctors prescribe medications most likely to be effective for them. At the time, nearly two-thirds of employers were open to offering coverage for this type of testing. Now that pharmacogenetic testing has more of a track record, it's likely both numbers are pushing upward.
What should plan sponsors look for in a pharmacogenetics program?
Ideally, plan sponsors should seek out a pharmacogenetics program that is as comprehensive as possible, offering testing for the largest possible number of genes known to affect the metabolism of specific drugs approved for use in Canada. Make sure testing includes rare genetic variants that are clinically significant. Programs should definitely include genes that influence uptake of drugs prescribed for major drivers of disability such as chronic pain and mental health.
To ensure drug recommendations coming out of the testing are sound, find out which organizations’ research feeds into them. These may include the Clinical Pharmacogenetics Implementation Consortium, Pharmacogenomics Knowledge Base and Dutch Pharmacogenetics Working Group. Integrating pharmacists into your program is a powerful way to make sure the knowledge plan members gain from pharmacogenetics testing is translated into appropriate evidence-based decisions about which medications to take.
Pharmacogenetics programs should also be user-friendly. That means testing should:
- Be easy for plan members to access, either directly or through their pharmacist – delivery directly to a plan member’s home works well
- Deliver results quickly – ideally within one week – so plan members can start their optimal treatment as soon as possible
- Explain results clearly with links to data sources so a plan member’s healthcare provider can act on them with confidence
With a comprehensive program, the results of pharmacogenetic testing can remain on file with a plan member’s healthcare provider. Genes don’t change, so whenever that person needs a medication in the future, the healthcare provider can check to see if the test results indicate a specific drug or dose. Each time pharmacogenetic testing contributes to the right prescription, it becomes even more cost-effective for plan sponsors.
The lab that provides the testing should also meet high standards, including being accredited and certified to carry out pharmacogenetic testing, complying fully with all applicable privacy laws including the Personal Information Protection and Electronic Documents Act (PIPEDA), and engaging in research to continuously advance science in this evolving area.
Making the most of your pharmacogenetics program
When it first came onto the scene, pharmacogenetics testing was used primarily by insurance companies as a voluntary component of a long-term disability, and sometimes short-term disability, management program. Today, it’s increasingly available for plan sponsors to apply more proactively to help employees who are still at work get the best possible treatment so they never have to go on disability leave.
In fact, when TELUS Health contacted 10 insurance carriers in late 2020, every one of them offered at least one group insurance option or a preferred pricing arrangement. Most were offering it as a disability benefit, sometimes limited to certain health conditions, but half said they already offered or would soon offer it as an extended health benefit. In almost all cases, qualifying conditions for the extended health benefit included mental health, cardiovascular health, neurology (nervous system disorders), pain and attention deficit hyperactivity disorder (ADHD).
To make the most of a pharmacogenetics program that’s offered broadly to all employees and family members with a range of conditions, plan sponsors must make sure plan members clearly understand what the testing does (and doesn’t) do, how it can help them, what to do with the results, and how their privacy is protected.
Education is key and the scientific intricacies of pharmacogenetic testing are complex, but the overall message is simple: pharmacogenetics testing can help predict how you will respond to a medication before you take it, so you don’t have to try a bunch of different drugs and doses before finding the best one for your unique body.
By supporting plan members with accurate, plain language information about pharmacogenetics, plan sponsors have an opportunity to help their employees peek into their genes so they can get the most effective treatment for many conditions. That, in turn, helps plan sponsors control employee benefits costs by reducing expenses for drugs that won’t work for a particular plan member. More importantly, it’s a way to speed up the process of getting to the right treatment, avoid adverse events and side effects, and keep employees healthy and productive at work.
What’s the future of pharmacogenetics?
As pharmacogenetics develops, more links between specific genes and the metabolism of various drugs are likely to be found. This branch of science also holds potential to inform the development of tailored drugs that may improve treatment for everything from asthma to cancer and cardiovascular disease. It’s an area for plan sponsors to watch closely because it holds a great deal of promise for improving the health of the Canadian population as a whole.