Do genetic tests belong in benefit plans?

This article by Veronika Litinski, CEO of GeneYouIn, the company behind Pillcheck, was published in Benefits and Pensions Monitor in October 2018 under the title "Do Genetic Tests Belong In Benefit Plans?". Below is a summary of the article, followed by what has changed since it was published.

Read the full article (PDF)

What does the article cover?

Genetic tests can provide insights into many areas, such as ancestry, inherited risk of disease, and how your body responds to medications. Technology has made genetic data cheap to generate, but outside of "recreational" ancestry testing, genetic data is only useful if it can be applied in clinically meaningful ways. The article explains why pharmacogenetics, the study of how genes affect medication response, is one of those ways, and why it is worth considering for group benefit plans.

Why does privacy matter for genetic testing in the workplace?

The article argues that the success of precision medicine depends on what people are willing to share and on how their data is stored and shared. It draws on the work of privacy expert Dr. Ann Cavoukian and her Privacy by Design framework, which holds that privacy and innovation do not have to be traded off against each other. Instead, privacy protections should be built into the design of a service from the start. Privacy also includes each person's right to decide whether, and which, others may know details of their genome, including insurers, family members, researchers and health care providers.

How can pharmacogenetics improve drug therapy?

Many medications help only a minority of the people who take them. A 2015 commentary in Nature, "Imprecision medicine", reported that for every person who benefits from one of the top-grossing drugs in the United States, several others do not. Pharmacogenetic (PGx) testing looks at how a person is likely to process specific medications, whether rapidly, normally or slowly. With this information:

• doctors can prescribe the medication and dose most likely to help, so that money spent on drug plans delivers the intended health benefit;
• doctors can avoid medications likely to cause side effects;
• people gain confidence in their treatment and are more likely to stay on it, because they feel better sooner on the right drug at the right dose.

However, in a US survey, most primary care physicians expected PGx tests to become a valuable tool, but only 13% felt comfortable ordering them. This is why services that include expert help with interpreting results matter.

How does Pillcheck work?

Pillcheck combines a PGx test with a review by pharmacists trained in pharmacogenetics, who recommend medication changes when needed. Because DNA does not change, the results have lifelong value. People who are tested control access to their results and receive updates as more medications are covered.

In the Innovative Canadian Pharmacogenomic Screening Initiative in Community Pharmacy (ICANPIC) study, pharmacists in two Toronto community pharmacies offered Pillcheck testing to 100 patients. After reviewing the results, they found an average of 1.3 drug therapy problems per patient that were directly related to the genetic results. Their recommendations to physicians were to change the medication (60%), adjust the dose (13%), stop a medication (4%) or monitor more closely (22%).

How could PGx testing help an injured worker? Frank's story

The article describes Frank, a 26-year-old construction worker who was injured on the job. He was prescribed Tylenol No. 3 (acetaminophen with codeine) and oxycodone for pain but did not get lasting relief, even as the doses were increased. Frank turned to cannabis, his pain problems led to a disability claim, and his doctors became concerned about addiction.

A pharmacogenetic test showed that Frank is a CYP2D6 poor metabolizer. Codeine has to be converted by the CYP2D6 enzyme into morphine to relieve pain, so in poor metabolizers it gives little or no relief, and higher doses do not help. According to the 2021 CPIC opioid guideline, people who are CYP2D6 poor metabolizers should avoid codeine and tramadol and use other pain treatments. Oxycodone works mostly on its own, and current guidelines do not recommend gene-based dosing for it. With this information, Frank's physician understood why codeine was not working and chose alternative treatments to manage both his pain and his risk of addiction.

If Frank and his physician had had this report before treatment:

• Frank could have avoided a medication that was unlikely to work and found relief sooner, possibly avoiding the escalation that raised addiction concerns;
• his employer would not have paid for ineffective medications that prolonged his absence from work.

The earlier these services are used to guide treatment, the more both employees and employers benefit. Learn more in Tylenol 3 side effects: why codeine doesn't work for everyone and Why don't painkillers work for everyone?

Can genetic test results be used against employees?

A common concern is that people might learn about a genetic risk of disease and then be denied insurance. The article noted that Bill S-201 had made genetic discrimination an offence under federal law, and that it amended the Canadian Human Rights Act and the Canada Labour Code to prohibit discrimination based on genetic characteristics. It also pointed out that PGx tests analyze only a small set of genes involved in drug metabolism, and that almost everyone carries variations in these genes, so PGx results are not useful for judging a person's health risks.

The article concluded that genomic medicine can benefit both the patient and the payer. Because each person's profile is unique, and a person can be a slow metabolizer for one medication and a fast metabolizer for another, expert help in pharmacology and genetics is essential to get full value from the test.

What has changed since 2018?

The law has been confirmed. Bill S-201 became the Genetic Non-Discrimination Act, and in 2020 the Supreme Court of Canada upheld it. No one can require a person to take a genetic test, or to disclose the results of a genetic test, as a condition of providing goods or services or of entering into a contract, including an insurance contract.

Almost everyone carries a relevant genetic variation. The article stated that over 90% of people have variations in drug-metabolism genes. A later study of more than 7.7 million US veterans projected the figure at 99%.

Stronger evidence from trials. In a randomized clinical trial in three Canadian community pharmacies, published in 2021, people with depression or anxiety whose antidepressant treatment was guided by Pillcheck had greater improvement in depression, anxiety and disability over six months than those who received standard treatment. In the large European PREPARE trial of nearly 7,000 patients, published in 2023, prescribing guided by a 12-gene panel reduced clinically relevant side effects by about 30%.

New economic evidence. A 2023 analysis in the CMAJ modelled pharmacogenetic testing for adults with moderate to severe depression in British Columbia. It projected savings of about $4,900 per patient over 20 years and estimated that the cost of testing would be recovered within about 2 years.

Wider coverage. Disability insurers, including Canada Life, Medavie Blue Cross and Empire Life, include Pillcheck in their disability benefits, and Bell Canada covers Pillcheck for eligible disability claimants. Canada Life, Medavie Blue Cross and Bell Canada offer their plan members access to Pillcheck at a preferred price, and selected trade unions with a long-term focus on member wellness include Pillcheck in employer-sponsored benefits. Learn more in 5 ways Pillcheck helps businesses manage benefits costs.

How can Pillcheck help your plan members?

Pillcheck combines a DNA test from a simple cheek swab with a medication review by pharmacists trained in pharmacogenetics. Pillcheck analyzes only genetic variations related to drug response, destroys any remaining DNA once testing is complete, and shares a member's report only with their consent. Plan administrators receive only aggregated, anonymized information about use of the benefit.

The Pillcheck service can be configured in multiple ways to support different workflows, including employer- or provider-sponsored disability management for qualified members, as well as health benefits. Sponsors receive monthly operational performance metrics (KPIs) and benchmarking that provide unique insights into utilization and return on investment.

Pillcheck testing is performed in CAP- and COLA-accredited clinical genetic laboratories located in Canada. Pillcheck reports on 24 genes, increasing coverage with new guidelines and drug labels (see the genes tab), and covers 355 medications, which account for over 70% of dispensed prescriptions. The Pillcheck test panel ensures high accuracy for people of non-European and admixed ancestries. Your results last a lifetime, and report updates are free of charge.

To learn more about adding Pillcheck to a health benefits plan, contact us at info@pillcheck.ca.

Summary

• Pharmacogenetic testing helps doctors choose medications and doses that are more likely to work, with fewer side effects.
• Privacy by design lets plans offer genetic testing while protecting members' control over their genetic information.
• A test combined with a pharmacist review can help people like Frank avoid medications that won't work for them and return to work sooner.
• Canada's Genetic Non-Discrimination Act protects people from being required to take or disclose genetic tests.
• Newer trials and economic analyses support the value of pharmacogenetic testing for members and plans.

Frequently asked questions

Can my employer or insurer see my genetic results?

No. Pillcheck results are shared only with your consent, and plan administrators receive only aggregated, anonymized information. In Canada, the Genetic Non-Discrimination Act also prohibits requiring genetic test results as a condition of a contract, including an insurance contract.

Does a pharmacogenetic test show my risk of disease?

No. Pillcheck looks only at genetic variations that affect how you process and respond to medications. It does not assess your risk of diseases.

Why doesn't codeine work for some people?

Codeine has to be converted into morphine by the CYP2D6 enzyme. People who are CYP2D6 poor metabolizers get little relief from codeine, while ultrarapid metabolizers convert it too quickly and are at risk of serious side effects. Both should avoid codeine and tramadol.

How can a plan offer Pillcheck?

Pillcheck can be paid through a health spending account, offered at a preferred price, or covered by the plan for eligible members. Contact info@pillcheck.ca to learn more.

References

1. Litinski V. Do genetic tests belong in benefit plans? Benefits and Pensions Monitor. October 2018:42-43.
2. Schork NJ. Personalized medicine: time for one-person trials. Nature. 2015;520(7549):609-611. doi:10.1038/520609a
3. Haga SB, Burke W, Ginsburg GS, Mills R, Agans R. Primary care physicians' knowledge of and experience with pharmacogenetic testing. Clin Genet. 2012;82(4):388-394. doi:10.1111/j.1399-0004.2012.01908.x
4. Papastergiou J, Tolios P, Li W, Li J. The Innovative Canadian Pharmacogenomic Screening Initiative in Community Pharmacy (ICANPIC) study. J Am Pharm Assoc. 2017;57(5):624-629. doi:10.1016/j.japh.2017.05.006
5. Crews KR, Monte AA, Huddart R, et al. Clinical Pharmacogenetics Implementation Consortium guideline for CYP2D6, OPRM1, and COMT genotypes and select opioid therapy. Clin Pharmacol Ther. 2021;110(4):888-896. doi:10.1002/cpt.2149
6. Genetic Non-Discrimination Act, S.C. 2017, c. 3. laws-lois.justice.gc.ca
7. Chanfreau-Coffinier C, Hull LE, Lynch JA, et al. Projected prevalence of actionable pharmacogenetic variants and level A drugs prescribed among US Veterans Health Administration pharmacy users. JAMA Netw Open. 2019;2(6):e195345. doi:10.1001/jamanetworkopen.2019.5345
8. Papastergiou J, Quilty LC, Li W, et al. Pharmacogenomics guided versus standard antidepressant treatment in a community pharmacy setting: a randomized controlled trial. Clin Transl Sci. 2021;14(4):1359-1368. doi:10.1111/cts.12986
9. Swen JJ, van der Wouden CH, Manson LE, et al. A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study. Lancet. 2023;401(10374):347-356. doi:10.1016/S0140-6736(22)01841-4
10. Ghanbarian S, Wong GWK, Bunka M, et al. Cost-effectiveness of pharmacogenomic-guided treatment for major depression. CMAJ. 2023;195(44):E1499-E1508. doi:10.1503/cmaj.221785