Running head: REFUSING DIAGNOSTIC TESTS 1

The Ethics in Challenging a Patient’s Autonomy to Refuse Diagnostic Testing

Dion Bui & Emmanuel Santuray

University of California, Irvine

 REFUSING DIAGNOSTIC TESTS 2

The Ethics in Challenging a Patient’s Autonomy to Refuse Diagnostic Testing

Neurofibromatosis-type II (NF2) is a genetic disorder that is responsible for the formation

of meningiomas, or tumors found in the brain (Evans, 2009). This condition can lead to

complications with balance and hearing, as well as the possible development of malignant

tumors if not detected and treated at an early stage. The child of an affected NF2 individual has a

50% chance of inheriting the gene, though symptoms of the disorder are usually not noticeable

until the person is in their late teens or early 20s (Asthagiri, et al., 2009). A genetic test is

available to detect the presence of the NF2 gene in individuals before signs of symptoms are

present (Ruggieri, et al., 2016). In the case of Kevin Hughes, the 18-year old boy is at a high risk

of inheriting the disorder after his mother was diagnosed with the NF2 gene and treated for

hearing loss (Fry, Veatch, & Taylor, 2011). Kevin’s father had his two younger siblings tested

for NF2 and requested that Kevin be tested also. However, as a legal adult, Kevin had the right to

refuse the test. Despite one of his siblings testing positive for NF2, he exercised this right as he

did not want to be labeled as “sick” and have his peers view him differently. As a last resort, the

father has tasked Doris Franklin, the clinic’s nurse genetics specialist, to convince Kevin to take

the blood test. The decision falls on Franklin to either follow the father’s wishes in convincing

Kevin to take the test for NF2 or to leave the situation as it is, placing Kevin at a higher ethical

authority. Franklin has an ethical responsibility as a nurse to educate and emphasize the potential

benefits of such a test for the patient, yet it is ultimately Kevin’s decision to refuse the test. In

other words, this paper will explore the effectiveness of NF2 treatment while addressing the

ethical dilemma between respecting patient autonomy and the nurse’s practice in beneficence.

Clinical Problem
 REFUSING DIAGNOSTIC TESTS 3

Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder that results from

mutations in the NF2 tumor suppressor gene on chromosome 22 (Evans, 2015). With an

incidence rate of approximately 1:33,000, NF2 results in the formation of central nervous system

tumors (Adern-Holmes, Fisher, & North, 2017). Symptoms of NF2 include hearing loss,

problems with facial movement, balance impairment, and difficulty walking (Adern-Holmes et

al., 2017). This section will further explain what NF2 is, how it is diagnosed, and how it is

treated.

The distinguishing factor in the diagnosis of NF2 is the presence of noncancerous tumors

on a nerve between the inner ear to the brain, also known as bilateral vestibular schwannomas

(Hoa & Slattery III, 2012). Their location in the brain is the cause of the symptoms for NF2. If

these schwannomas get large enough, the pressure they exert on the vestibulocochlear nerve in

the brain can lead to hearing loss and balance impairment. Although these tumors are

noncancerous, these health complications raise concerns for the patient.

Furthermore, many patients with NF2 do not experience these symptoms until they are in

their late teens or 20s. Although hearing loss is the most common symptom of NF2, it is hard to

associate it with NF2 since symptoms such as hearing loss and balance impairment could be

contributed to other medical conditions such as head injury or ear infection.

Considering NF2 is an inheritable disease, patients diagnosed with the disorder can have

their children tested since they have a 50% probability of also having the genetic mutation

(Ferner, 2007). Although these symptoms are associated with the genetic-induced tumor, their

presence is not sufficient enough to diagnose patients with NF2. In order to specifically associate

these particular symptoms with NF2, a blood test must be conducted alongside taking a thorough
 REFUSING DIAGNOSTIC TESTS 4

family history. In addition to a blood test, magnetic resonance imaging (MRI) to detect the

presence of bilateral vestibular schwannomas can help diagnose a patient with NF2.

In regards to treating patients with NF2, symptoms of the disorder are the only things that

can be managed through medical intervention. Currently, surgery to remove bilateral vestibular

schwannomas is the best treatment available (Lloyd & North, 2018). Unfortunately, there is no

known cure at the moment to treat the gene itself and may result in the return of the tumors.

Consequently, the regression of these symptoms may require another surgical procedure.

Summary of Ethical Dilemma

Kevin Hughes is a young adult who has a high risk of inheriting the NF2 gene after his

sister was recently diagnosed with having the gene (Fry Veatch, & Taylor, 2011). His mother is

also comatose after receiving tumor removal treatment due to the same genetic disorder. The

dilemma stems from Kevin, a legal adult at 18, refusing to take the test for NF2 against his

father’s wishes. Kevin’s personal reason for refusing the test is due to not wanting to have a shift

in self-image among his football teammates and other peers (Fry, Veatch, & Taylor, 2011).

Despite Kevin’s refusal, the father asks Doris Franklin, the nurse genetics specialist taking care

of Kevin’s mother, to help convince him to proceed with the test. Mrs. Franklin personally

believes that there are benefits to taking the blood test and can educate Kevin about the health

complications that come with having the NF2 gene. The ethical dilemma arises when Mrs.

Franklin must decide between forcing Kevin to take the test or respecting Kevin’s right to refuse

it (Fry, Veatch, & Taylor, 2011). The nursing principles of paternalism and beneficence are

associated with the decision to convince Kevin to take the test, while the principles of autonomy

and nonmaleficence are associated with the decision of respecting Kevin’s refusal to take it.
 REFUSING DIAGNOSTIC TESTS 5

Forcing Kevin to Take the Test

Paternalism refers to a nurse interfering with a patient’s freedom for his or her own good,

while beneficence refers to a nurse always working to promote a patient’s welfare. If Mrs.

Franklin were to force Kevin to take the test, she would be practicing paternalism as she

dismisses his decision to refuse care in favor of preserving his health. In doing so, Mrs. Franklin

is also practicing beneficence since the probability of Kevin having the NF2 gene puts his

well-being at stake due to possible tumor development (Fry, Veatch, & Taylor, 2011). By having

Mrs. Franklin speak to Kevin about the advantages of early detection and continuous

assessments for NF2-associated tumors, Kevin can understand the significance of early

intervention (Ruggieri, et al., 2016). In other words, if Kevin tests positive for NF2, tumors can

be expected and thus detected at their earliest stages. The tumors can then be removed early to

prevent the health complications. However, if Kevin’s decision remains unchanged, Mrs.

Franklin can discuss how his refusal also affects his family.

As a nurse, Mrs. Franklin would adhere to provision two of the American Nurses

Association’s (ANA) Code of Ethics which states that a nurse’s main commitment is to the

patient, whether the patient is an individual or a family group (American Nurses, 2015). By

including Kevin’s family in his care plan, Mrs. Franklin is caring for the patient as a family unit,

rather than taking care of Kevin alone, since the possibility of Kevin having the NF2 gene places

a great amount of stress on a family who has already suffered from the complications of NF2.

Therefore, Mrs. Franklin can consider the family’s needs when making decisions. Since NF2 is

an autosomal dominant genetic disorder, the blood test can serve a crucial role in caring for
 REFUSING DIAGNOSTIC TESTS 6

Kevin’s family as the disorder can be passed onto future generations (Nijsingh, 2016).

Respecting Kevin’s Refusal to the Test

Autonomy refers to a nurse respecting a patient’s personal freedom, while

nonmaleficence refers to a nurse doing no harm when caring for a patient. As a nurse, Mrs.

Franklin would respect patient autonomy by allowing Kevin to refuse the test. Mrs. Franklin

would also be practicing nonmaleficence as respecting Kevin’s refusal would avoid emotional

distress as he had personal concerns about the test affecting his self-image. Furthermore,

respecting Kevin’s refusal would allow him to feel in charge of his own decisions.

By allowing Kevin to make his own decisions in regard to his care, Mrs. Franklin is in

line with provision five of the ANA’s Code of Ethics as she avoids coercion, manipulation, and

unintended influences when preserving the wholeness of the patient’s character (2015). The

provision not only protects patient autonomy, but it also tells nurses to avoid pressure from third

parties when caring for patients. In this situation, the father can be considered a third party if

Mrs. Franklin views the patient as an individual, rather than as a family unit (American Nurses,

2015). The father was directly involved in requesting Mrs. Franklin to speak to Kevin with hopes

of changing his mind (Fry, Veatch, & Taylor, 2011). This can be identified as a form of coercion

or manipulation by the father and Mrs. Franklin.

Ethical Decision & Justification

As registered nurses, we must advocate for our patients to provide effective care. From a

clinical perspective, patient advocacy consists of two themes: empathy with the patient and

protecting the patient (Davoodvand, Abbaszadeh, & Ahmadi, 2016). Essentially, we must

sympathize with our patients and build a personal relationship with them, while also prioritizing
 REFUSING DIAGNOSTIC TESTS 7

their health and protecting their rights. According to the first provision from the ANA’s Code of

Ethics, patients have their moral and legal rights to make the final decision regarding their care.

In this case, the patient has refused to take a diagnostic test for the NF2 gene against his father’s

wishes, despite being at a significant risk for inheriting it and developing a brain tumor. This

creates the ethical dilemma between four nursing principles: paternalism and beneficence versus

autonomy and nonmaleficence. As nurses in this specific scenario, we decided to respect the

patient’s initial refusal of taking the NF2 test in order to prioritize autonomy and

nonmaleficence. Using the nursing process allowed us to come to the consensus that Mrs.

Franklin should respect Kevin’s refusal to take the NF2 test.

Since the principle of nonmaleficence states to minimize harm while maximizing benefit

of patient care, one may think that it correlates with the decision to force Kevin to take the NF2

gene test. However, we believed that nonmaleficence best applied to the decision of respecting

Kevin’s refusal. If Mrs. Franklin were to coerce Kevin into taking the test, she would be

invalidating his reasons for the refusal, causing him to lose trust and respect for Mrs. Franklin

and possibly even healthcare professionals in general. In this aspect, forcing Kevin to take the

test may hurt him more than benefit him as he may avoid seeking medical care in the future due

to his experience with Mrs. Franklin.

Furthermore, though forcing Kevin to take the NF2 test would help in caring for possible

health complications in the future, we realized that doing so could complicate the situation he

and his family is currently in. With the family concerned over their comatose mother and the

recent diagnosis of Kevin’s sister with NF2, pressuring Kevin to take the test against his wishes

could create greater tension in the relationship he has with his family, while also increasing
 REFUSING DIAGNOSTIC TESTS 8

emotional burden. During such a difficult time, it is important for the nurse to also offer

emotional support, specifically empathizing with Kevin’s choice. Clearly, the decision to force

Kevin may hurt him more than benefit him as it may create additional conflict within the family.

Although the father was not able to get his son tested like he wanted, it is still important

to ensure that Mrs. Franklin informs the father to monitor for NF2-related symptoms that may

arise for Kevin and his sister (Ruggieri, et al., 2016). In addition, Mrs. Franklin must explain to

the father her rationale for allowing Kevin to refuse the test. She would explain how she has no

right to coerce her patients into doing anything they are not comfortable doing, but she would

also explain how she would create a care plan for Kevin where everyone can be satisfied.

After Mrs. Franklin makes the decision to respect Kevin’s refusal of the NF2 test, we are

left with Kevin still at risk for the development of NF2-associated tumors and the father still

wanting the best care for his son. Although we decided to prioritize patient autonomy, there is

more that can be done in order to preserve patient advocacy and health. In this case, the next step

would be to create a compromise between the father and his son that involves a different nursing

intervention. In order to respect the patient’s wishes and ensure the father that his son is being

cared for, a compromise involving more frequent check-ups consisting of focused assessments

for NF2-related symptoms is suggested if Kevin refuses to take the test (Evans, 2009). In this

manner, Mrs. Franklin would be respecting Kevin’s right to autonomy, while also taking the

father’s concerns about his son’s health into consideration. By doing this, we avoid coercion,

which is out of our scope of practice, while maintaining our commitment to the well-being and

integrity of our patients (American Nurses, 2015).

 REFUSING DIAGNOSTIC TESTS 9

The implementation of more frequent check-ups in place of the NF2 blood test would still

allow healthcare providers to monitor for early symptoms of the NF2 disorder without coercing

Kevin into undesired care. Although Kevin initially refused to take the test, his perspective may

change over time. Therefore, during each check-up, we would have Mrs. Franklin reiterate the

father’s concerns and remind Kevin what it means for him to refuse the test in the case that

Kevin changes his mind and agrees to take the test.

All in all, in order to preserve patient autonomy while simultaneously honoring our

commitment to patient health, we decided Mrs. Franklin must allow Kevin to refuse the test.

However, this does not mean further intervention is not required. In fact, we recommend that

Mrs. Franklin advocate for more frequent check-ups that involve focused assessments for

NF2-related symptoms in order to ensure Kevin’s well-being without violating the nursing scope

of practice by infringing on Kevin’s right to refuse the test.

Conclusion

In conclusion, neurofibromatosis type II (NF2) is a genetic disorder that has autosomal

dominant inheritability. Although there is no cure, detecting early signs of symptoms associated

with the disease, such as hearing loss and balance impairment, can improve the quality of

treatment plans. Patients who have the NF2 gene have a 50% chance of passing the gene onto

their children. Therefore, the most common and preferred method of diagnosing the disorder

early is through a genetic test. In the case scenario presented, a 18-year old boy named Kevin

Hughes is refusing the genetic test even though his mother is being treated for the disorder and

one of his siblings has tested positive for the NF2 gene. The ethical dilemma arises when

Kevin’s father asks nurse Franklin to persuade Kevin to take the test. As nurses, we are faced
REFUSING DIAGNOSTIC TESTS 10

with two options: force the patient to take the diagnostic test in order to promote beneficence and

paternalism, or allow the patient to refuse the test to promote autonomy and nonmaleficence.

Ultimately, we made the ethical decision to respect the patient’s desire to skip the diagnostic test

and move forward with a health plan that best suited Kevin’s preferences.

Our decision prioritized practicing nonmaleficence and respecting the patient’s autonomy

over beneficence and paternalism due to the nursing process. Although Kevin initially refused to

take the genetic test, we believed nurse Franklin had the responsibility to promote Kevin’s health

while still respecting his decisions. We felt that it would be breaking our code of ethics to

pressure or coerce him into taking the test, even if it meant bringing comfort to his father or

detecting the disease at an earlier stage. In this case, we placed heavy emphasis on the

assessment and planning part of the nursing process as we had to cater to the patient's individual

needs while taking the family's concerns into consideration as well.

In conclusion, this decision emphasizes how nurses must respect their patients’ desires

even if we do not believe it is in their best interests. We simply must follow the steps of the

nursing process in order to provide the best care possible for our patients without ignoring our

nursing principles. If patients continue to refuse our care, we must respect that decision. The

major implication that results from this scenario is that a care plan that caters to a patient’s

individual needs can always be created. Since forcing Kevin to take the test would be out of our

scope of practice, we believed we had no option, but to allow Kevin to refuse care. However, as

nurses, we have a responsibility to prioritize the well-being of our patients so the nursing process

helped us continue with another intervention that accounted for the patient’s personal

preferences. In the end, nurses are defined by their scope of practice. It’s not just about
REFUSING DIAGNOSTIC TESTS 11

prioritizing certain nursing principles over others, rather it’s about going through the nursing

process and making sure all options are explored. By taking all of our ethical principles into

consideration and catering to the specific needs of each patient, we can provide the best care to

the best of our ability.

REFUSING DIAGNOSTIC TESTS 12

References

Adern-Holmes, S., Fisher, G., & North, K. (2017). Neurofibromatosis Type 2. ​Journal of Child

Neurology,​ ​32(​ 1), 9-22. doi:10.1177/0883073816666736

American Nurses Association. (2015). ​Code of ethics for nurses with interpretive statements​.

Silver Spring, Maryland: American Nurses Association.

Asthagirl, A. R., MD, Parry, D. M., PhD, Butman, J. A., MD, Kim, H. J., MD, Tsilou, E. T.,

MD, Zhuang, Z., MD, & Lonser, R. R., MD. (2009). Neurofibromatosis type 2. ​The

Lancet,​ ​373(​ 9679), 1974-1986. doi:10.1016/S0140-6736(09)60259-2

Davoodvand, S., Abbaszadeh, A., & Ahmadi, F. (2016). Patient advocacy from the clinical

nurses' viewpoint: a qualitative study. ​Journal of medical ethics and history of medicine​,

9​, 5.

Evans, D. G. (2009). Neurofibromatosis type 2 (NF2): A clinical and molecular review.

Orphanet Journal of Rare Diseases,​ ​4(​ 16). doi: 10.1186/1750-1172-4-16

Ferner, R. E. (2007). Neurofibromatosis 1 and neurofibromatosis 2: A twenty first century

perspective. ​The Lancet Neurology,​ ​6​(4), 340-351. doi:10.1016/s1474-4422(07)70075-3

Fry, S. T., Veatch, R. M., Taylor, C. (2011). ​Case studies in nursing ethics (4th ed.)​. Sudbury,

MA: Jones & Bartlett Learning.

Hoa, M., MD, & Slattery III, W. H., MD. (2012). Neurofibromatosis 2. ​Otolaryngologic Clinics

of North America,45(​ 2), 315-332. doi:10.1016/j.otc.2011.12.005

Nijsingh, N. (2016). Consent to epistemic interventions: a contribution to the debate on the right

(not) to know. Medicine, ​Health Care and Philosophy, 19(​ 1), 103-110.
REFUSING DIAGNOSTIC TESTS 13

North, H. J., & Lloyd, S. K. (2018). Hearing Rehabilitation in Neurofibromatosis Type 2.

Advances in Oto-Rhino-Laryngology Advances in Hearing Rehabilitation,​ ​81​, 93-104.

doi:10.1159/000485526

Ruggieri, M., Praticò, A. D., Serra, A., Maiolino, L., Cocuzza, S., Di Mauro, P., Licciardello, L.,

Milone, P., Privitera, G., Belfiore, G., Di Pietro, M., Di Raimondo, F., Romano, A.,

Chiarenza, A., Muglia, M., Polizzi, A., Evans, D. G. (2016). Childhood

neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and

biologically targeted therapies,​ Acta Otorhinolaryngol Ital​, ​36​(5), 345-367. doi:

10.14639/0392-100X-1093