Running head: THE ROLE OF NURSES IN GENETIC TESTING

The Role of Nurses in Genetic Testing

Courtney Wright
Ferris State University

Abstract

THE ROLE OF NURSES IN GENETIC TESTING

Genetic testing is sequencing individuals DNA in order to determine if

there are any mutations. This is done to diagnose diseases, for personalized
medicine, to identify the risk of passing it on to children and to screen
newborns for curable diseases. Nurses are starting to have a more sufficient
role in genetic testing, but are proven to be undereducated about it. Through
a thorough review of research articles, American Association Guidelines and
Quality and Safety Education of Nurses, the author will show the importance
of educating nurses about genetic testing.

The Role of Nurses in Genetic Testing

THE ROLE OF NURSES IN GENETIC TESTING

In order to understand what the nurses role is in genetic testing, an

understanding of what genetic testing is must be the first step. Genetic
testing is where DNA is sequenced to discover if there are any abnormalities
(Burke, Trinidad & Press, 2014, 193). This is done to diagnose diseases, to
identify the risk of passing a disease on to children, to determine the
potential of getting a disease in the future, to screen newborns and for the
use of personalized medicine. Personalized medicine is where the doctor
prescribes certain medicine and specific doses based on the genetic makeup
of a person (Burke, Trinidad & Press, 2014, 194). The intention for this is to
prevent adverse effects of medications and to ensure patients are receiving
adequate doses based on their genetic makeup. (Burke, Trinidad & Press,
2014, 194).
With the basic understanding of what genetic testing is and why we do
it, we can now start to understand why it is relevant to the nursing
profession. Nurses are the forefront of patient care and one of the largest
healthcare providers. It is important for nurses to be educated on new
evidence and methods to provide the safest and effective care possible to
their patients (What is a Genetics Nurse, 2014). When doctors prescribe
personalized medicine to their patients, the nurses will be the ones actually
administering the ordered medication. Since personalized medicine is still
considered research, it is important for the nurses to be educated on which
patients are receiving this care (What is a Genetics Nurse, 2014). They can
then safely check on these patients an adequate amount to ensure they are
not experiencing adverse effects from the medication.

THE ROLE OF NURSES IN GENETIC TESTING

Nurses are also the individuals that take the patients family history. If
nurses are educated on genetic testing, when they see a red flag with a
patients family history, they can investigate further and guide their patient
to appropriate resources (What is a Genetics Nurse, 2014). Nurses are
patient advocates and educators and these roles they play will be
exemplified if they have a general understanding of genetic testing so they
can guide their patients toward appropriate resources if needed. The purpose
of this paper is to display evidence-based research on the role of nurses in
genetic testing and to analyze the findings through theories, healthcare
environment, implications and recommendations.
Theory Base
In order to demonstrate how genetic testing can be looked at from an
interdisciplinary and collaborative perspective, a nursing theory and a theory
from a different discipline will be discussed. The first theory that will be
looked at in further detail is Betty Neuman: The system model. Betty
Neumans theory is described as, when actual or potential stressors are
presented to an individual they may respond in different ways (Neuman,
2011). When these stressors are presented to a patient, it is the nurses
responsibility to prevent the stressors from invading them. To prevent
complete invasion, nurses must understand the patient and implement
different nursing prevention levels in order for the patient to maintain
wellness (Neuman, 2011).
This theory coincides with genetic testing, because when individuals
are waiting for their results, or have received bad results, their stress level

THE ROLE OF NURSES IN GENETIC TESTING

may increase. Individuals do not discover their results overnight and while
they are waiting there is a potential they will collaborate with a nurse. If
nurses are educated on genetic testing they can educate their patients and
be a support system for them while they are awaiting their results. If they
have received results not to their liking, this can create immense amounts of
stress. With education and knowledge, nurses can prevent this stress
invasion or help to resolve the stress that the patient is already experiencing.
The second theory that will be looked at in greater detail is the Theory
of Genetic Vulnerability: a roy model exemplar. This model is composed of a
five step process, which is, experiencing the family disease, testing for a
mutation, foregrounding inherited disease risk, responding to knowledge of
genetic vulnerability and altering or avoiding the family experience of
inherited disease (Bowers & Hamiliton, 2007). In the first step, experiencing
the family disease, the individual becomes more familiar with a disease from
their family history. They start to wonder if they will obtain the disease
before they die and become increasingly more curious about it. In the second
step, testing for a mutation, the person becomes curious enough about their
family disease that they end up going to get tested for it. In the third step,
foregrounding inherited disease risk, they have received their results from
their genetic testing. They then analyze their results and share them with
their friends and family. In the fourth step, responding to knowledge of
genetic vulnerability, the individual decides what they are going to do about
their results. An example of this is if a patient had BRCA 1, this step is where
they would decide if they want to have a double mastectomy or not. The last

THE ROLE OF NURSES IN GENETIC TESTING

step, altering or avoiding the family experience of the inherited disease, the
individual will alter their lifestyle to try and avoid obtaining the disease.
Some examples of this would be to eat healthy, exercise and to not smoke or
drink. This model is important to understand with genetic testing, because it
describes what a person is potentially going through during that time
(Bowers & Hamiliton, 2007).
Assessment of the Healthcare Environment
Nurses knowledgeable about genetics/ genomics and skilled at
obtaining and assessing risk in a family history have the potential to help
people avert adult onset disorders and consequential morbidity and
mortality (Calzone, Cashion, Feetham, Jenkins, Prows, Williams, & Wung,
2010). An example of this is when one nurse who was knowledgeable about
genetics took the initiative to dig deeper in a patients family history. She did
this because she had noticed multiples of the patients family had died
because of heart related problems. After an extensive review of the family
history she obtained permission to do genetic testing for this cardiac issue.
With genetic testing, the heart problem on the exact chromosome was
discovered and the patient took preventive measures and had an
implantable cardioverter defibrillator placed. With the nurses knowledge
about genetic testing, she was able to save this patients life, not only once,
but twice (Calzone, Cashion, Feetham, Jenkins, Prows, Williams, & Wung,
2010).
Each hospital formulates their own policy on personalized medicine

THE ROLE OF NURSES IN GENETIC TESTING

and genetic testing. For this paper we will review the Spectrum Health policy
on personalized medicine. The Spectrum Health Institutional Review Board
(IRB) is responsible for overseeing the activities related to personalized
medicine (Personalized Medicine Activities, 2013, p.1). Since personalized
medicine is so new, it is still considered in the research phase. Patients need
to be informed that it is still research and has certain limitations. This policy
brings up the issue that personalized medicine can go against other policies
related appropriate medication dosage (Personalized Medicine Activities,
2013, p.3). Spectrum Health comes up with medication equations to
adequately medicate their patients in a safe and effective way. Since
personalized medicine does not follow these guidelines the dosage is given
based on the genetic information. If the nurses have any questions or do not
feel comfortable with medicating their patients based on the genetic
information, the IRB is always available (Personalized Medicine Activities,
2013, p. 3).
There are many resources available ranging from the genetic
consultation all the way to genetic counseling. If an individual desires to get
genetic testing they will first go to a genetic consultation session (Calzone,
Cashion, Feetham, Jenkins, Prows, Williams, & Wung, 2010). During this
appointment a genetic representative will sit down with the patient and help
to weigh the pros and cons of receiving the test. They will attempt to
mentally prepare the individual for any potential bad news with the genetic
results. After the genetic consultation session is completed, the individual
will then precede to the actual genetic testing. After the genetic testing is

THE ROLE OF NURSES IN GENETIC TESTING

completed the patient will go to a genetic counseling session, where the

results of the test will be shared and options of where to go from there will be
presented. The individual does not have to make any definitive decisions at
the point, and can refer back to the genetic counselor at any time (Calzone,
Cashion, Feetham, Jenkins, Prows, Williams, & Wung, 2010).
The price of genetic testing can be astronomical and may reach up to
35,000 dollars (Calzone, Cashion, Feetham, Jenkins, Prows, Williams, & Wung,
2010). On the bright side, if the genetic testing is considered medically
necessary usually insurance will cover it. Cases where insurance will pay for
it are often newborn screenings and if you have an extensive history of a
certain disease. The reason behind this is if insurance pays for your genetic
testing and you take preventive measures, it will most likely save the
insurance company money in the long run (Calzone, Cashion, Feetham,
Jenkins, Prows, Williams, & Wung, 2010). If a patient does not have
insurance, many private labs will only charge them a portion of the cost and
set up a payment plan. Even though genetic testing can be a high cost, there
are many resources available to help cut costs in order to make it possible.
Inferences and Consequences
With genetic testing, there are many inferences and consequences
associated with it. The first quality and safety issue is that personalized
medicine is new (Haga & Mills, 2015, p. 251). Since it is still considered
research and not a proven method, it can pose a threat to the patient. If they
are not properly dosed with medication because of personalized medicine, it
can lead to many issues and the worst case scenario being death. The next

THE ROLE OF NURSES IN GENETIC TESTING

quality issue is the potential for the genetic tests to be read wrong (Haga &
Mills, 2015, p. 251). The genetic counselor may try and explain the results to
the individual, but they can take what was explained the wrong way. This can
lead to the patient feeling an immense amount of stress and not properly
taking advantage of the results from the genetic test. The last safety issue to
consider is the impact of the genetic information. When receiving bad news
about a disease, it can take a toll on a person and can drive them towards
anxiety and depression. If the results of a genetic test stated that a couple
had a 50% chance of giving their child cystic fibrosis, it could pose many
issues. The couple could disagree if they should have children and this could
lead to anxiety about a tough decision. If the couple went ahead and had
children and their child was born with cystic fibrosis, it could drive them
towards guilt and they could blame themselves for making the choice to
procreate. Since genetic testing can directly affect peoples lives, safety and
quality issues need to be taken very seriously.
Along with new studies, many ethical issues have arisen. The first
ethical issue is who should be able to know your genetic results? Insurance
companies are pushing toward being allowed to know the genetic
information, since they are the ones paying for it (Lea, 2008). They would
have your personal information and could potentially determine how much
you will cost them in the future. Another issue, along with confidentially, is if
you received a positive result for a disease, should they be allowed to share
it with your siblings so they can get tested for that disease as well. Currently,
no one is allowed to share your genetic information with anyone, but these

THE ROLE OF NURSES IN GENETIC TESTING

10

issues are being brought up on a more frequent basis (Lea, 2008). Another
ethical issue is the access to technology. If someone was deemed medically
necessary to obtain genetic testing, but lived in rural area, the chances of
them receiving the genetic test are slim. Since personalized medicine and
genetic testing are relatively new, the laboratories are in the more populated
areas. This needs to be taken into consideration when prescribing genetic
testing to a patient, so you can find adequate resources for them so they are
able to follow through and receive the genetic test.
If nurses were to stay undereducated about genetic testing, then it
could lead to many issues and poor outcomes. If they were not aware that
the medicine they were giving to the patient was personalized, it could
potentially lead to death (Thompson & Brooks, 2011, p. 625). If the nurse
were to be alert and aware that they were distributing personalized
medicine, they could take proper precautions to ensure it was safely being
given. Since personalized medicine is so new there can be adverse reactions
to the medications. Nurses need to be informed about which of their patients
are receiving personalized medicine so they can watch for any adverse
effects. They can make a point to do routine checks on the patient and keep
a close eye to determine if there are any changes in their health due to the
medication.
With nurses not being properly educated on genetic testing, it can
lead to patients not taking advantage of their genetic results. If a patient
were to come into the emergency room because of high anxiety, tachycardia
and other issues, the nurse would treat those conditions and send them on

THE ROLE OF NURSES IN GENETIC TESTING

11

their way. If the reason they were experiencing those symptoms were to be
because of receiving bad results from their genetic testing, chances are they
would end back in the emergency room. If nurses were to be properly
informed about genetic testing, they could educate this patient and help him
uncover his anxiety with genetic testing. If nurses were to be appropriately
educated with genetic testing, it could potentially lead to better patient
outcomes.
Recommendations for Quality and Safety Improvements
For nurses to be properly educated with genetic testing there are many
recommendations for quality and safety improvements. The first
recommendation would be to include genetic testing in the curriculum for
nursing school. School is where nurses are made and if we start with properly
educating them there, it would lead to a better understanding of the topic
(Thompson & Brooks, 2011, p. 624). Along with that, we also need to provide
the faculty with proper resources. Since genetic testing is so new, they may
be undereducated on the topic and not know how to properly educate their
students (Thompson & Brooks, 2011, p.624). For the nurses that are out of
school, providing them with continuing education units on the topic would
bring them up to speed. The last recommendation is to have the professional
nursing organization include genetics. Since these organizations encompass
a great deal of nurses, they could reach a large percentage of them.
The recommendations stated above coincide with the quality and
safety education for nurses (QSEN) competencies, evidence-based practice,
quality improvement and patient-centered care (QSEN, 2015). In order to

THE ROLE OF NURSES IN GENETIC TESTING

12

become educated on genetic testing, we must dive into evidence in order to

provide safe and effective care. In the health care field, we are always
looking at improving the quality of the care given. Personalized medicine is
trying to do just that, by trying to avoid unnecessary medication deaths.
Nurses that are educated will deliver patient-centered care, focusing on
helping the patient choose the path that best suits them. The
recommendations also follow the American Nurses Association (ANA)
standards of education, evidence-based practice and research and resource
utilization (ANA, 2010). For nurses to learn about genetic testing, they have
to start somewhere. As stated above, nurses should start their knowledge
with genetics in the nursing program. In order to be properly educated on a
topic, adequate research on the topic must be looked at. The last ANA
standard resource utilization comes into place by using the proper resources
to provide safe and effective care. If nurses are not educated on personalized
medicine, it could potentially lead to the death of the patient. Personalized
medicine is the future and learning about it now will help us to prepare for
when it is more prevalent.
Conclusion
Our current trends display that nurses are not properly educated on
genetic testing and what their role in it should be. With nurses being the
forefront of patient care, it is essential for them to have an understanding on
the topic. When doctors prescribe personalized medicine, the nurse will be
the one to actually administer this. If they are aware that they are giving

THE ROLE OF NURSES IN GENETIC TESTING

13

personalized medicine, then they can provide safety checks to monitor the
patient for adverse effects. Even though genetic testing is only just starting,
it is the future of the healthcare field. If we properly educate the nurses
though school, CEUs and nursing organizations they can be ready for the
future.

References
American Nurses Association. (2010). Nursing: Scope and standards of
practice (2nd ed.).
Silver Spring, MD: American Nurses Association
Bowers, B., Hamiliton, R., (2007). Theory of Genetic Vulnerability: a Roy
model exemplar.
Nursing Science Quarterly, 20(3), 254-64. doi:
10.1177/0894318407303127
Burke, W., Trinidad, S. B., & Press, N. A. (2014). Essential Elements of
Personalized Medicine.
Urologic Oncology, 32(2), 193197.

THE ROLE OF NURSES IN GENETIC TESTING

14

http://doi.org.ezproxy.ferris.edu/10.1016/j.urolonc.2013.09.002
Calzone, K. A., Cashion, A., Feetham, S., Jenkins, J., Prows, C. A., Williams, J.
K., & Wung, S.-F.
(2010). Nurses Transforming Health Care Using Genetics and
Genomics. Nursing
Outlook, 58(1), 2635. http://doi.org/10.1016/j.outlook.2009.05.001
Carpenter, J. S., Rosenman, M. B., Knisely, M. R., Decker, B. S., Levy, K. D., &
Flockhart, D. A.
(2016). Pharmacogenomically actionable medications in a safety net
health care system.
SAGE Open Medicine, 4.
http://doi.org.ezproxy.ferris.edu/10.1177/205031211562433
Haga, S. B., & Mills, R. (2015). Nurses communication of pharmacogenetic
test results as part of
discharge care. Pharmacogenomics, 16(3), 251256.
http://doi.org.ezproxy.ferris.edu/10.2217/pgs.14.173
Lea, D. (January 31, 2008) "Genetic and Genomic Healthcare: Ethical Issues
of Importance to
Nurses" OJIN: The Online Journal of Issues in Nursing. Vol. 13 No. 1
Manuscript 4.
Neuman, B. (2011). Neuman System Model. Retrieved from
http://www.neumansystemsmodel.org
Personalized Medicine Activities. (December 3, 2013). Retrieved from
http://www.spectrumhealth.org/documents/research/policies/irb
%20guidance%20on%20personalized%20medicine.pdf
Quality and Safety Education for Nurses (QSEN). (2015). Pre-licensure KSAs.
Retrieved from
http://qsen.org/competencies/pre-licensure-ksas/
Sakanaka, K., Waters, C. H., Levy, O. A., Louis, E. D., Chung, W. K., Marder, K.
S., & Alcalay, R. N.
(2014). Knowledge of and interest in genetic results among Parkinson

THE ROLE OF NURSES IN GENETIC TESTING

15

disease patients and caregivers. Journal of Genetic Counseling, 23(1),

114120. http://doi.org.ezproxy.ferris.edu/10.1007/s10897-013-9618-y
Thompson, H. J., & Brooks, M. V. (2011). Genetics and Genomics in Nursing:
Evaluating
Essentials Implementation. Nurse Education Today, 31(6), 623627.
http://doi.org.ezproxy.ferris.edu/10.1016/j.nedt.2010.10.023
Thorngate, L., & Rios, C. (2008). Clinical Care at the Genomic Interface:
Current Genetic Issues in
Neonatal Testing. Newborn and Infant Nursing Reviews, 8(1), 36-42
What is a Genetics Nurse? (2014). Retrieved from International Society of
Nurses in Genetics: http://www.isong.org/ISONG_genetic_nurse.php