This month's column is an important five minute read if you are starting to consider adding genetic testing products into your employee benefits or insurance products. You need to be able to explain the benefits of genetic testing and show how the risks can be mitigated. Despite the public enthusiasm wanting genetic testing performed, we still feel it is important that employees talk to their doctor and/or genetic counselor about these pros and cons of genetic testing before getting these tests performed.
In a Feature article that was recently published, I listed out the following benefits and potential concerns associated with using genetic testing as an employee benefit. (1) The magnitude of the impact of these positives and negatives depends on the type of genetic testing being performed. The following are a few points that warrant consideration and further discussion.
What are the possible benefits of getting genetic testing done?
- Improve employee health resulting in less disability, better morale, less absenteeism, better productivity and increased company loyalty
- Prevention, early detection, and treatment of disease
- Avoid dangerous and sometimes fatal drug side effects
- Allows for the use of the most effective treatment options
- Stop useless drug therapies and sometimes avoid cancer chemotherapy
- Supplies information to empower individuals to take an active role in their healthcare
- Encourage healthy behavior
- Enhance quality of life and longevity
- Peace of mind
- Could lead to new treatments and drug discovery
- Family planning
- Lower health care costs
What are the potential concerns with getting genetic testing done?
- Privacy and discrimination concerns
- Insurability concerns
- Insurance anti-selection risk, but more so with whole-genome sequencing and not really a problem with pharmacogenomic testing and cancer genomic profiling
- For some uses of genetic testing, more research is needed to prove clinical utility
- If tests are done outside of medical supervision, it is possible to misguide the public
- False positives and false negatives are possible
- False sense of security leading to patients not following doctor's suggestions
- Patients making medication changes on their own without consulting their doctor
- Difficulty interpreting genetic variants of uncertain or unknown significance
- Might cause anxiety or fatalistic view
- Overzealous optimism for hope of cure
- Need for longitudinal follow-up to update the employee's genetic report based on new discoveries in the future
- Most genetic variations (SNPs) are associated with small relative risks
- Might cause family strain, uncover parenthood or adoption issues or cause anxiety in other family members who might not want to know their genetic risks
- Increase use of healthcare in follow-up
- Accessibility and cost of targeted cancer therapies
- Cost of testing
Defense and Rebuttal
Many of the above-suggested benefits of genetic testing delve into the 'Clinical Utility' of these tests. 'Clinical Utility' is the usefulness of the test such that the results change the way a doctor manages a patient to prevent morbidity and mortality. Studies have shown that getting genetic testing done is able to prevent disease, improve outcomes and overall extend quality and quantity of life. For example:
- Prescribing the blood thinner warfarin guided by pharmacogenomic testing decreases adverse events by 27 percent (2)
- Screening women with a family history of early breast cancer looking for mutations in the breast/ovarian cancer BRCA gene can lead to preventative treatments that can lower the cancer risk by more than 90 percent (3)
- Clopidogrel (platelet inhibitor blood thinner) can decrease risk of stroke by 50 percent but only in patients that have a genetic profile showing they can adequately metabolize the drug to its active form (4)
- Cancer Genomic Profiling improves outcomes. For example, one study showed that genetic testing changes management in 53 percent of patients and extends survival in advanced cancer patients by 1.1 years (5)
- Genetic testing has also been shown to be cost-effective (6)
Expanding the accessibility and scope of genetic testing does put us slightly ahead of the clinical medicine curve. Some researchers cite barriers to widespread genetic testing such as concerns about cost reimbursement by insurers and time delay. Getting genetic testing through one's employer or after insurance policy issue will take away some of these barriers and will also expedite more patients being entered into clinical trials to help discover new targeted therapies.
Other than the debate about the clinical utility of genetic tests, the main arguments against widespread adoption of genetic testing as an employee benefit relates to privacy and fear of discrimination. In the U.S., the Health Insurance Portability and Accountability Act (HIPAA) and the "Privacy Rule" protect personal health information from being shared without your consent.
The Genetic Information Non-discrimination Act (GINA) prohibits discrimination on the basis of genetic information for employment and health insurance. GINA does not cover the potential use of genetic information for mortgage-lending, housing, schools or other types of insurance. By offering genetic testing as an employee benefit, one potential concern is that the employees get armed with their genetic information and then go out and buy lots of extra insurance.
This is not an issue to worry about with pharmacogenomics testing nor is this a significant concern with Cancer Genomic Profiling as the insurance underwriters will already know about the past history of cancer. This anti-selection risk is more of a concern with Whole Genome Sequencing. Fortunately, for the most important diseases driving mortality, the risks associated with any single genetic mutation or variant are quite low.
And there are credits that need to be considered along with preventative strategies that will negate some of this possible excess mortality risk in an insured population. Another area of contention pertains to who is responsible to maintain the genetic testing record. As research discovers new gene-disease associations, ongoing review of one's genetic file will be important as new discoveries could change the interpretation and clinical management of a patient.
Some genetic testing providers perform this ongoing re-evaluation and offer genetic counseling. Also, genetic testing is a 'family affair'. If you are found to be carrying a genetic mutation, there is a 50% chance that your parents, siblings, and children are also carrying the same mutation. It is therefore advisable to discuss the merits and possible differences of opinions about genetic testing with your family before getting testing done as some family members might not want to know about their genetic risk, especially for diseases where treatments are not available.
Some opponents to the widespread use of genetic testing question if the medical community is adequately trained to deal with these genetic test results? Studies have shown that doctors do know how to use this information to best treat patients. (7) Also regarding pharmacogenomic testing, there are professionally curated websites to help doctors interpret the genetic test results to choose the right drug and the right dose to best treat the patient and avoid drug side effects. (8)
We feel the benefits associated with offering genetic testing to employees far outweigh any of the concerns. In next month's November article, we will discuss more about the accuracy of these genetic tests and how useful are the results as it relates to cancer genomic profiling, pharmacogenomics, and whole genome sequencing.
We will show that even though we are slightly ahead of the clinical medicine curve, incorporating these genetic tests into employee benefits and insurance products can improve quality and quantity of life and decrease healthcare costs We invite you to answer this anonymous one question online survey and see what others think about genetic testing. Also, post your comments and opinions in the comments section below as we start this open discussion.
- Philip Smalley MD. Integrating Genomics into Employee Benefits & Corporate Wellness Programs. Corporate Wellness Magazine, September 2017 http://cwm.corporatewellnessmagazine.com/features/integrating-genomics-employee-benefits-corporate-wellness-programs/ Accessed September 26, 2017
- Brian F. Gage et al, Effect of Genotype-Guided Warfarin Dosing on Clinical Events and Anticoagulation Control Among Patients Undergoing Hip or Knee Arthroplasty: The GIFT Randomized Clinical Trial. JAMA. 2017;318(12):1115-1124
- Kerstin Rhiem and Rita Schmutzler, Impact of Prophylactic Mastectomy in BRCA1/2 Mutation
- Wang Y et al, Association Between CYP2C19 Loss-of-Function Allele Status and Efficacy of Clopidogrel for Risk Reduction Among Patients With Minor Stroke or Transient Ischemic Attack. JAMA. 2016 Jul 5;316(1):70-8
- Spetzler D, Xiao N, Burnett K et al. Multi-platform molecular profiling of 1,180 patients increases median overall survival and influences treatment decision in 53% of cases. European Journal of Cancer, September 2015; Volume 51, Supplement 3, Page S44. Presented at ECCO 2015.
- Brown LC et al, Economic Utility: Combinatorial Pharmacogenomics and Medication Cost Savings for Mental Health Care in a Primary Care Setting. Clin Ther. 2017 Mar;39(3):592-602.e1
- Vassy JL et al, The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. Ann Intern Med. 2017 Jun 27;167:159-169
- PharmGKD Website; M. Whirl-Carrillo, E.M. McDonagh, J. M. Hebert, L. Gong, K. Sangkuhl, C.F. Thorn, R.B. Altman and T.E. Klein. "Pharmacogenomics Knowledge for Personalized Medicine" Clinical Pharmacology & Therapeutics (2012) 92(4): 414-417. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3660037/pdf/nihms465364.pdf, https://www.pharmgkb.org/labels, Accessed September 12, 2017
All content in this article was created for informational purposes only. The content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician, genetic counselor or another qualified health provider with any questions you may have regarding a medical condition or testing. Never disregard professional medical advice or delay in seeking it because of something you have read in this article. Reliance on any information provided in this article is solely at your own risk.
About Wamberg Genomic Advisors
Wamberg Genomic Advisors is your partner in the Genomic Revolution. Our mission to make genomic testing readily available at prices everyone can afford. Our focus is on delivering genomic products and services to employers and their employees via their trusted benefit brokers and policyholders of life insurance companies. To discover more about WGA and the future of genomics, visit wamberggenomic.com.