MEDICINE AND PHARMACOGENOMICS
in Genetic Testing for Employee Benefits Providers
PRECISION MEDICINE TODAY AND TOMORROW
The purpose of this White Paper is to help employee benefits
professionals understand the topic and to provide a framework for determining
whether these new capabilities might be considered in employee benefits
strategies. This is a rapidly emerging and exciting area that will likely
challenge the employee benefits industry for decades.
WHAT IS PRECISION MEDICINE?
Precision medicine, sometimes referred to as personalized medicine, is
defined by the National Institutes of Health as “an emerging approach for
disease treatment and prevention that takes into account individual variability
in genes, environment, and lifestyle for each person.” This approach allows
physicians and researchers to predict more accurately which treatment and
prevention strategies for a particular disease will work in which groups of
people. It is in contrast to a one-size-fits-all approach, in which disease
treatment and prevention strategies are developed for the average person, with
less consideration for the differences between individuals. Genetics
Home Reference – https://ghr.nlm.nih.gov/Precision Medicine In some ways, it
is a paradigm shift from the way medicine has been
practiced and delivered for the last century.
HIERARCHY OF GENETIC TESTING:
Testing has been around for many decades. Precision Medicine is a subset of
genetic testing. Pharmacogenomics is one type of Precision Medicine testing.
Precision medicine can do several things:
Reveal genetic factors that
increase disease risk.
Inform optimal medication
selection and dosage for improved outcomesCK1 .
Identify risk of inherited
Offer insight into rare diseasesSB2 .
For purposes of this white paper, we will we will define
pharmacogenomics as a subset of precision medicine. Pharmacogenomics is the study of how genes affect a
person’s response to drugs. This relatively new field combines pharmacology
(the science of drugs) and genomics (the study of genes and their functions) to
develop effective, safe medications and doses tailored to a person’s genetic
makeup. This subject will be addressed in a subsequent White Paper.
PRECISION MEDICINE CAPABILITIES
As the potential for precision
medicine widens, it will be important to understand the benefits of the new
There are several possible advantages
of having genetic testing done that the employee benefits professional should
More targeted prevention, early detection and
treatment of disease.
The encouragement of healthier behavior by employees
and their families taking a more active role in their own healthcare.
Extended quantity and quality of life.
Avoidance of drug side effects and more effective
Discontinuation of useless drug therapies and toxic
Advances in precision medicine will enable greater
ability for doctors to use patients’ genetic and other molecular information as
part of routine medical care. Today, many health care providers are only just
beginning to incorporate these capabilities in their clinical practices. Improved
ability to predict which treatments will work best for specific patients will
radically change prescribing patterns. We are already seeing this in the field
of oncology. Likewise, practitioners in psychiatry and cardiology are poised to
begin incorporating precision medicine as their professional organizations
begin to tackle these new capabilities. https://ghr.nlm.nih.gov/primer/precisionmedicine/potentialbenefits
Precision Medicine to Determine If You areCK3 Pre-Disposed
to a Particular Cancer:
Cancers With Genetic Phenotype That Can be Tested Today:
Precision medicine testing can also be used to inform genetic
susceptibility to cardiovascular conditions,.
Precision Medicine to Determine If You areCK4 Pre-Disposed
to Particular Medical Conditions:
Medical Conditions With Genetic Phenotype That Can be Tested
Certain genetic forms of high
PRACTICAL APPLICATIONS FOR
Precision medicine, genetic testing and pharmacogenomics are receiving
increased attention from employers interested in enhancing their employee
benefits. Some of the reasons driving this interest are the promises of
improved employee health resulting in less disability, better morale, less
absenteeism, better productivity and increased company loyalty because the
employee believes the company provides a valuable benefit others don’t get.
There are a growing number of third-party vendors introducing precision-medicine
capabilities as a voluntary benefit for employees or as a fully paid benefit
for employees and their families. Growing consumer concern around heart
disease, diabetes and Alzheimer’s disease are fueling this interest. https://medcitynews.com/2017/08/employer-benefits-adviser-launched-genomic-testing-advisory-business/
One provider of these services commissioned Survey Sampling International
to query 536 U.S. consumers between the ages of 26 and 64 with
employer-sponsored health insurance. The survey found a majority (65 percent)
of respondents would be interested if their employer offered easy and
affordable access to genetic testing for health purposes, provided the results
were private and only shared between the employee and their doctor.
Moreover, many people are willing to help pay for such testing if it were a workplace benefit. http://www.benefitspro.com/2017/11/22/the-next-hottest-voluntary-benefit-genetic-testing
Earlier in 2017, the FDA issued a landmark decision to reverse its 2013
ban on marketing their disease risk screen directly to consumers, leading to a
more progressive regulatory environment in the U.S. As a result, new
distribution models are emerging. In addition to direct-to-consumer marketing
and clinically prescribed tests, insurance carriers are now bundling tests with
new policies, and employers are beginning to offer genomics tests as a risk
screening tool and a covered employee benefit. https://medcitynews.com/2017/07/second-coming-consumer-genomics-3-predictions-2018/
direct to consumer genetic testing capabilities such as Ancestry.com and 23 and
Me raise awareness of precision medicine, employers are also starting to see an
emergence of precision medicine companies that offer new solutions for
there are two ways that Precision Medicine diagnostics are being offered
through an employee benefits platform:
1. Generalized testing offered to
everyone (employer-sponsored, voluntary or shared cost) that provideCK5 information to the tested
individual on risks and propensities of medical conditions and responsiveness
to certain classes of drugs where genetic phenotype can be a determinant of
efficacy. Different providers of these services offer different combinations of
2. Targeted testing offered to
identified individuals (usually employer paid) where diagnostics (through
medical and pharmacy claims or administered questionnaires) identify those
individuals who will more likely benefit from a specific type of genetic
testing are contacted, and offered testing.
A FRAMEWORK FOR LOOKING AT PRECISION MEDICINE FOR EMPLOYER
of the basic questions employers should ask about Precision Medicine, or pharmacogenomics
does the new capability offer?
is the upside of this testing?
are some of the potential down sides to this testing?
the benefits outweigh the costs?
doesn’t the medical carrier pay for this testing?
all testing it is important to consider:
is being tested?
is testing administered?
is confidentiality maintainedCK6 ?
laboratories are being utilized and how are they credentialed and how are
quality controls conducted?
are results being delivered back to the recipient?
are genetic counseling resources made available? Are they mandatory?
are treating physicians included in the interpretation and next steps around
the results? Is treating physician involvement mandatory?
are the costs of testing?
recipients able to maintain a connection with the service and will they receive
updates as new diagnostics become available?
best practices include:
ProvideSB7 mandatory telephonic counseling with a genetic counselor to all recipients
screened. This counseling should be delivered by credentialed personnel who
have been trained and equipped with tools to assist the recipient with
accurately interpreting results.
the recipient’s treating provider in a review of the results of testing, as
well as any recommendations for changes in treatment..
is preferable to consider the availability of longitudinal follow-up to update
the employee’s report based on new diagnostic capabilities in the future. In
theory, once the genome is sequenced, it may be run against newer algorithms
not available for the initial report.
CHALLENGES FOR PRECISION
MEDICINE IN EMPLOYEE BENEFITS
promising as these new technologies are, the concerns around genetic testing
for the employee-benefits decision maker are considerable.
are some potential concerns with precision medicine genetic testing, including:
Difficulty for recipients to interpret the significance of the
Creating a false sense of security with false negative
Creating a false sense of anxiety with false positive
“I am predisposed to a condition and there is
nothing I can do to prevent it.”
“I am predisposed to a condition, so what’s the use
changing my behaviors if I’m going to get that condition any wayCK8 .”
Patients making medical decisions without consulting their
Employee benefits professionals will need vigilance and
guidance around what and how precision medicine diagnostics are introduced into
their employee benefits ecosystens. As best practices emerge, some of these
areas will become clearer and more commonplace. Inevitably, new diagnostic
technologies will continue to challenge what, when and how diagnostic testing
is administered and results delivered.
Where we will be tomorrow?
The promise of Precision medicine is considerable. Better
understanding of the underlying mechanisms by which various diseases occur can
transform how many diseases are diagnosed and treated. Improved approaches to
preventing, diagnosing and treating a wide range of diseases have the potential
to increase efficiacy and ultimately lower costs. .
Technologic advancement is driving an
accelerated growth in the genomics space. Specifically, lab costs have
continued to decline, consumer awareness is higher than ever, regulation has
become more favorable in the U.S. and remains permissive in other parts of the
world, and new models of payment and distribution have emerged. https://medcitynews.com/2017/07/second-coming-consumer-genomics-3-predictions-2018/
technology and delivery of these new diagnostic capabilities improve, employers
will need to continue to monitor what’s available and what it means to their
full employee benefits offerings.