delayed emergency treatment for miscarriage and ectopic pregnancy

Running Head: PRECISION MEDICINE 1

Precision Medicine and Genetic Discrimination

GNRS 504: Bioethics and Healthcare Policy

PRECISION MEDICINE 2

Precision Medicine and Genetic Discrimination

A case study conducted by Welch et al. (2011) followed a 39 year-old woman who was

diagnosed with acute myeloid leukemia (AML). She entered her first remission and was started

on chemotherapy with all-trans-retinoic acid (ATRA). However, following cytogenic testing, the

ATRA treatment was discontinued as it was believed the patient required stem cell

transplantation instead. For two weeks the patient’s condition persisted until she was re-induced

without ATRA. This resulted in complete remission and the patient was referred to the

Washington University Genome Institute for allogenic stem cell transplantation evaluation.

Biopsy testing produced confounding results in which the patient’s morphology was

absent of evidence for AML or acute promyelocytic leukemia (PML). In order to treat the

patient, the researchers had to resort to the patient’s leukemic morphology in order to empirically

come to a recommendation. The researchers decided to perform whole-genomic sequencing

(WGS) to accurately assess the patient’s condition. The sequence results were completed and

reported to the patient after the DNA sample was obtained. The outcome of the sequencing

revealed mutations initial tests were unable to find. Predicted mutations were not found with the

sequencing as well. The findings of the WGS successfully altered the patient’s form of care after

the study’s completion. Instead of receiving a stem cell allocation transplantation, which may

have proven ineffective, the ATRA treatment was resumed leading to an improved prognosis and

outcome for the patient.

The previous case study provides a glimpse into the benefits precision medicine (PM)

offers. Instead of reactive medicine, patients will be able to obtain personalized medicine which

is tailored to their specific genetic makeup. PM encompasses both medical genomics and

pharmacogenetics. Medical genomics is the study of all genes and other factors that contribute to

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inheritance patterns and the methods of care while pharmacogenomics is the study of how an

individual’s genome affects the metabolic processing of medications (Blix, 2014). Some of the

perceived benefits of PM is that it can aid a prognosis, determine the severity of a patient’s

disease, and allow physicians to accurately identify to which medications a patient will respond

best (Blix, 2014). This has led to an increased interest in cancer risk assessment and oncology

patient care.

Cancer risk assessment involves a family history, physical examination, and genetic

counseling and testing (Blix, 2014). Before the Human Genome Project, the accuracy of risk

assessment tools was relatively low. However, with PM, WGS can sequence the patient’s cancer

in order to detect every mutation that might be involved with the oncogenesis (Blix, 2014). This

process allows physicians to subtype enabling the use of specific treatments to which the cancer

is vulnerable. Despite the potential benefits PM has to offer, some concerns exist involving

privacy issues and equal access. (Louca, 2012; Phua, 2004). The possibility of required genetic

testing evokes fear that patients will be forced to relinquish their privacy in order for insurance to

cover medical expenses (Josko, 2014). Other worries stem from current challenges our health

care system faces. According to the Centers for Disease Control and Prevention (CDC) (2017),

over 28.4 million Americans under the age of 65 were uninsured as of 2015. Given this high

volume of uninsured persons, one is left to wonder whether PM will be available for all, or only

for the privileged few. Clearly there is much to discuss when considering the moral and ethical

issues surrounding PM, but for the purposes of this paper, the main concern will focus on genetic

discrimination (GD). Before discussing this concern, it is important to acknowledge the

stakeholders involved. The primary groups to gain or lose from the implementation of PM

include the patient (or society as a whole) and the healthcare provider, which for the purposes of

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this paper will focus on the nurse. Once the impact on these groups is established, policy and the

ethical principles involved will follow.

Impact on the Patient and Nurses

The degree to which interventions are effective when genetic testing is used will depend

on public understanding of the uncertainty involving penetrance and environmental risk factors

(Wilde et al., 2010). It is important to remember that many genetic anomalies are simply risk

factors, therefore, it is essential that research participants and patients alike are protected and are

carefully informed (Wilde et al., 2010). A few of the top perceived disadvantages of PM include

fear of loss of privacy, risk of discrimination, risk of fatalistic thinking, and increased social

stigma (Wilde et al., 2010). These concerns pose a problem to genomic-informed cancer

treatment, specifically genomic research. Genomic data in studies cannot be completely de-

identified, thus presenting a deterrent to potential research subjects (Rogith et al., 2014). If

complete assurance cannot be given that a participant’s genomic data will be anonymous, why

take the risk? Additionally, if the patient’s genomic data reveals incidental abnormalities, will

the patient want to know? These are just a couple of questions that patients and participants

share. If PM is to achieve social acceptance, privacy is a must.

According to Rogith et al. (2014) most patients prefer that genomic data should be

protected. This is especially true when government agencies and pharmaceutical companies are

the expected recipients. Studies have found a commonly expressed concern about insurance

discrimination (Rogith et al., 2014; Joly, Feze, & Simard, 2013; Wilde et al., 2010). One reason

for this concern is a preexisting awareness for risk based on family history (Wilde et al., 2010).

An individual stated in an interview, “that if I had a test […], it would probably come back

positive. And if [the results were] found out, and I couldn’t get insurance, well then I’d say no to

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a test” (Wilde et al., 2010; p. 49). This testimony presents a serious problem for the intent of PM.

If one of the key benefits for PM is to assess genetic risk and prevent poor outcomes, but patients

are reluctant to seek counseling because of a fear of repercussion, all benefit is lost.

A systematic review dealing with life insurance indicated that GD has occurred citing

Huntington’s disease (HD) as the most frequent reason (Joly et al., 2013). This is a serious

concern as many who may carry the gene for HD are liable to pass the condition on to their

offspring. If such a risk exists and fear of GD prevents early risk screening, an individual may

unknowingly bear children who will later develop the disease. Alternatively, the individual

themselves may develop the debilitating disease shortly after bearing children, thus leaving their

partner to raise the child alone once the disease has proven fatal. Joly et al. (2013) indicated that

GD may involve outright denial and increased premiums. More subtle tactics, however, such as

delayed consumer communication may take place to discourage the individual seeking coverage.

Unfortunately, this might lead to inconsistent survey results, so the exact number of cases may

be underreported.

Based on the evidence PM has already impacted the patient, but how are nurses affected?

The nurse must be informed on the changing field of PM. Nurses are essential as they act as the

patient’s advocate and will provide much of the education. If, an individual presents with a

personal and familial history indicating an increased risk for cancer, it is recommended they

receive a referral for genetic counseling (Blix, 2014). Nurses need to be aware of this important

consideration if PM is to be widely implemented. As technology advances and becomes more

affordable, the world becomes more connected. Although this offers many benefits, it can also

prove challenging when one is responsible for protecting the patient.

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A relatively new service known as direct-to-consumer (DTC) genomic testing has made

its appearance recently offering subscribers quick access to their genomic profile (Blix, 2014).

One of the services offered through licensed provider screenings is the post-test counsel session.

This is an overlooked benefit not provided with non-FDA approved DTC genomic testing.

Without a licensed physician or genetic counselor, the results from these tests may prove

difficult to handle (Blix, 2014). Results indicating disease may require drastic life alterations

whether they are preventative or treatment oriented. Another issue that may present with the

results is that some outcomes do not necessarily guarantee morbidity (Blix, 2014). Nurses must

be prepared to inform the patient of these risks end encourage use of FDA regulated entities,

thereby protecting the patient and their privacy. The technology behind genetic counseling is still

evolving; therefore, it is essential that professionals are available to interpret and explain the

results.

Although evidence exists supporting why nurses should be aware of PM, knowledge

about nurse awareness in the United States (U.S.) of PM is lacking. Regardless of this shortage

in literature, one study did indicate a concern that merits attention locally. Hereditary breast and

ovarian cancer (HBOC) testing has been around for a while and is quite accurate (Komatsu &

Yagasaki, 2013). A focus group comprised of various healthcare team member including four

nurses revealed a core finding that HBOC risk management is relatively neglected in breast

cancer care (Komatsu & Yagasaki, 2013). Reported challenges included limited available time

and resources, difficulties in presenting the information to patients, lack of confidence regarding

the topic, and difficulties with patients not wanting to share their condition with others (i.e.

family members) (Komatsu & Yagasaki, 2013). These perceived barriers are problematic as a

majority of them can be resolved with education and policy changes. If these challenges exist in

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the U.S., the benefits of PM will struggle to gain traction, possibly posing considerable risk to

the patient.

Policy and Precision Medicine

GD is established as one of the greatest concerns patients share about PM. Fortunately,

policy on PM has already been put into effect. The Genetic Information Nondiscrimination Act

(GINA) was implemented in 2008 to prevent GD (Feldman, 2012). It serves two main functions.

First, GINA prohibits insurance companies from using genetic information to deny coverage,

adjust premiums, impose exclusions, as well as making it illegal for insurers to request or obtain

genetic testing information (Feldman, 2012). Secondly, it prohibits employers from purposefully

acquiring or using genetic information in decisions for hiring, raises, or compensation (Feldman,

2012). Even though the occurrence of GD is little or nonexistent, GINA is one of the first

preventative policies ever implemented by a vast majority of legislators (Feldman, 2012). GINA

has its limitations. It still lacks explicit statements addressing life insurance, life disability, and

long-term care (Feldman, 2012). Another concern is that prohibited access to genetic information

may entice insurers and employers to focus more on existing conditions, manifested diseases,

and lifestyle risks when making decisions (Feldman, 2012). Thankfully another federal statute

exists that, for the moment, prevents these possible threats which is the Patient Protection and

Affordable Care Act (PPACA).

Although the PPACA addresses many issues, it acknowledges GD specifically by

prohibiting insurance companies and employers from discriminating against pre-existing

conditions (Prince & Berkman, 2012; U.S. Department of Health & Human Services

[USDHHS], 2017). This is an important distinction since GINA omits this detail in its

protections by only covering genetic information and not symptomatic conditions (Prince &

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Berkman, 2012). There is growing concern, though, about whether this protection will persist as

disagreement among politicians may lead to repeal or revision of the PPACA. Some states are

already acting to address the gaps in GINA to protect those who are vulnerable should the

PPACA no longer provide protection (Prince & Berkman, 2012). For the remainder there is a

serious concern that needs attention. If federal law is changed, GD will be legal against

preexisting conditions. If such a change is allowed, our country makes an assertion that equal

access to healthcare insurance, life insurance, or any of the other benefits protected by the

PPACA is not a right, but a privilege. Such an assertion indicates a need for ethical advisement.

Ethics and Principles

The ethical ramifications presented with PM and GD are complex. In order for PM to be

considered ethical, one must first decide whether it violates our moral principles. The moral

principles that are most relevant to this topic are autonomy, non-maleficence, and justice. Moral

theories such as utilitarianism, Kantianism, and rights theory also must be addressed if PM is to

become a standard form of care. Healthcare is already a limited resource and PM could possibly

add to the disparity underserved populations face. Since GD is one of the greatest concerns the

public has regarding PM, it is necessary to determine if protection against GD is a right. If so, it

is imperative that policy exists to protect individuals at risk.

The principle of autonomy is concerned with individual views, ability to make choices,

and ability to take action based values and beliefs of the individual (Beauchamp & Childress,

2012). While respect is provided to one individual, this action must not interfere with another

(Beauchamp & Childress, 2013). In the case of PM and GD the target individual is the patient.

Genetic screenings elicit private information. If this information were released without the

patient’s consent, autonomy is violated. In the interest of this principle, it would be morally

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wrong for insurers and employers to have access and use this information without individual

consent. Based on this potential violation, it would be imperative for lawmakers to establish

prohibitions against these types of agencies, including life insurers. PM can be available for

everyone so long as genetic information is protected.

The principle of Nonmaleficence, states that one ought not to cause harm to another

(Beauchamp & Childress). If one is denied access to PM, is this action considered a violation of

nonmaleficence? According to Beauchamp & Childress (2013) one of the specific moral rules

for nonmaleficence requires that individuals are not deprived of the ‘goods of life’. In the case of

PM and GD, it is important to know whether PM or equal access to healthcare are considered

goods of life. The worry that genetic screening might reveal a genetic condition is a barrier to

PM. Regardless whether PM is available for all, it seems the threat of GD could prevent patients

from seeking genetic counseling. If patients who are at risk for disease fail to seek proper

treatment out of fear, then the very existence of GD could be the cause of indirect harm to their

health. Based on the principle of Nonmaleficence, it would seem unethical for policy to allow

GD in any instance that would deter patients from seeking medical advice.

The principle of justice requires that all individuals are viewed as equals (Beauchamp &

Childress, 2013). Not all individuals who obtain genetic screening will be at risk for GD, but the

few that are will require protection if equal access to healthcare is a fundamental need. The

question is whether such a need, or right, is considered a universal good. If PM becomes a

standard form of care, patients who require genetic screening and are at increased risk for

disease, will require reassurance that they will receive equal distribution of services. If GD is

deemed a violation of individual rights, then insurers and employers must not be allowed to

prohibit access or alter it so that those affected are discriminated against. Based on

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communitarian justice individual rights must consider the fact that individuals belong to a

society. Public policy is based on a shared consensus about the good of society rather than on the

basis of individual rights (Beauchamp & Childress, 2013; p. 258). Assuming society can come to

a consensus that GD is a violation of justice, an ethical recommendation for PM can be made.

It would appear that the moral principles of autonomy, non-maleficence, and justice can

coexist with the existence of PM so long as GD is prohibited; however, it is necessary moral

theory is also addressed. A Utilitarian view focuses on maximizing the most valuable good while

minimizing the least valuable good (Beauchamp & Childress, 2013). From this perspective PM,

a valuable good, is sought. Since PM can benefit society, it is necessary that certain measures are

taken to ensure it can benefit the majority. If the majority includes those who are ill and

potentially carry a genetic disorder, then under the utilitarian view GD should be prohibited

under any circumstance that would prevent its acceptance.

In Kantian theory actions are ethical if they are performed out of moral obligation

(Beauchamp & Childress, 2013). The action of preventing GD, and ensuring PM is made

available for all, is only deemed morally good if it is done out of principle. Since Kantian theory

only focuses on the means and not the end, the allowance of GD in the interest of PM would be

immoral. Is PM acceptable on its own, though? The major threat is GD, but this only stems from

the potential threat to autonomy. If PM is mandated, then autonomy would be violated. Since this

paper is focused on GD, however, PM can be implemented so long as policy is developed to

prevent GD against its users.

The moral principle of justice is quite dependent on individual rights. Rights theory

focuses on protecting against oppression, discrimination, intolerance, and invasion of privacy

(Beauchamp & Childress, 2013; p. 367). The arguments surrounding PM is that it may lead to

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the violation of privacy and produce discrimination. If so, lawmakers will need to establish

which rights should be upheld. If PM is made widely available to the public, people need

assurance their information will be kept secure. They will also require assurance that any entities

such as insurers and employers cannot access or utilize their information to enact unfair actions

upon them. PM itself may not be a right, but privacy is. Therefore, GD must be prohibited.

Recommendations

Precision medicine (PM) holds many possible benefits for the future of healthcare. Cases

like the 39-year old woman whose diagnosis was changed following genetic sequencing provide

clear evidence why PM is especially useful in oncology. Unfortunately, public opinion presents

several challenges that require attention before PM can become universal. Education will

continue to be one of the key roles of the nurse. In order to ensure patients feel secure and

confident in PM, nurses must keep current with research and be weary of possible threats like

direct-to-consumer genetic screening. Nurses must also feel comfortable with the topic

themselves in order to properly make referrals for screening and provide support for patients who

may be at risk for disease. It seems the greatest threat to PM involves privacy and genetic

discrimination (GD). GD, although rare, has occurred and must be prevented at all costs. Policy

exists but, given the uncertainty with our political system it seems further development is

needed. The gaps in GINA present concern should politicians repeal or revise the PPACA

allowing discrimination against preexisting conditions. The ethical ramifications of PM indicate

that it can be implemented so long as it is not mandatory. The benefits of PM need to be

available for everyone. It may be new, but if we proactively implement policy now, we can

prevent ethical violations from occurring in the future.

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