Running head: ETHICS

Ethical Issues in Genetic Testing

Final Paper

AEL 681 Ethics and Education

BEF 641: Studies in the Social Foundations of Education

Jennifer J. Palmer

The University of Alabama

Summer 2018

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Early philosophers such as Socrates, Plato, and Aristotle have been described as shaping

the cultural and intellectual development of the world. Plato’ writings described women as

significantly different from men, as irrational individuals with bodies in constant conflict.

Feminists have described this difference between men and women as one of cultural versus

natural. The distinction between men and women was not based purely on the differences in their

physical bodies. Men were viewed as strong individuals who, through genetics and breeding,

became physically stronger and mentally more in tune with their souls than women. Women

were considered the weaker sex due to their monthly menstruations, tendency to “vapors”, and

the idea that females were lacking something that was present in the “normal” male gender

(Ortner, 1974).

In the 1800s, Charles Darwin, a scientist, observed finches, which, despite being the same

species, looked different. This led to his hereditary theory that despite the fact that the birds came

from the same ancestor, they adapted over time and began to look different due to their different

environments (Liu, 2008). When Darwin applied his theory to people, he stated that they were

more similar than different due to their common ancestry. Darwin’s cousin, Francis Galton was

also a scientist, but disagreed with Darwin’s theory. He stated that people were more different

than alike and coined the term “eugenics” (later shortened to genes) to describe their

differences(Nesse et al., 2010). His idea eventually led to a eugenics movement in America in

which undesirable individuals were forcibly made infertile so that their inferior genes would not

carry forward to the next generation.

The National Institute of Health (NIH) defines genetics as the “study of genes and their

roles in inheritance of disease” while genomics is defined as “the study of all of a person’s genes,

including the interaction of genes with each other and with the environment” (National Institute

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of Health, 2018). The Human Genome Project (HGP) was initiated internationally in 1990 to

identify the sequence of genes that make up the human genome (Lea & Lawson, 2000). Since the

HGP completion in 2003, recent advances in the knowledge of the human genome have led to a

greater understanding among scientists and researchers of the role of genes in all body processes.

Genetics, once thought of as a rare cause of disease, is now considered an integral component of

health. The goal is to integrate genetics and genomics across the health care continuum at the

point of care in areas such as risk assessment, prevention, screening, diagnosis, treatment,

prognosis, and personalized medicine (Calzone, Jenkins, Culp, Caskey, & Badzek, 2014; Camak,

2016).

Background

In 1957, long before most currently practicing nurses were born, the central doctrine of

biology, the process of transcription, was first described. Transcription is the process where

deoxyribonucleic acid (DNA) inside the nucleus is transcribed into messenger RNA (mRNA)

(Montgomery et al., 2017). In 2003, when human genome sequencing was completed and most

experienced nurses were already practicing, much genetic information and technology was

introduced into healthcare, requiring nurses to understand and translate these concepts to

patients. This either required the nurses to go back to college or take supplemental courses in

order to feel comfortable incorporating genetics into their practice. Presenting genomic

information to patients requires knowledge of how to personalize and effectively communicate

the application of this information into maintaining and improving health and quality of life.

Without a strong foundation in genetics and ethics, how do caring nurses know the ethical

decisions about genetics that are important for their patients and which ones are not?

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Application of Genetics to Nursing

The Center for Interdisciplinary Health Workforce Studies states that of 2017, the

representation of male full-time employed RNs in the workforce has remained steady at 11%

over the past 5 years (Auerbach, Buerhaus, Staiger, & Skinner, 2017). Because nursing is a

profession that continues to employ more men than women and has been shaped by women and

their experiences, feminist and feminine theories are used to examine and understand nursing

culture. Central to nursing is the ethic of care. The National League for Nursing includes caring

as one of their core values and defines it as concern for the whole person, commitment to the

common good, and outreach to those who are vulnerable (American Nurses Association &

International Society of Nurses in Genetics, 2017).

Ethical conflicts in nursing may be due to a struggle between a nurse’s personal feelings

about genetic testing and the duty the nurse feels to the patient, or tensions may arise from

ethical positions of professional and religious groups to whom the nurse feels loyal (Fry, Veatch,

& Taylor, 2011). Feminist theories that examine power structures and the ethics of care may

serve as a means for analyzing and discussing these conflicts. Nel Noddings is both a theorist

and researcher. She has explored the significance of caring and the relationship of caring to

ethics. Her argument is that caring, a basic in human life, should be a foundation for ethical

decision-making (Noddings, 1989).

As the largest health care profession, with 2.9 million active registered nurses in 2016,

employment of registered nurses is expected to grow by a projected increase of 15% or more

than 438,000 by 2026 (Bureau of Labor Statistics, 2016). This growth is due to the increase in

demand by the baby-boomer population, increased emphasis on preventative care, and growing

rates of chronic conditions such as diabetes and obesity. Although the need for nurses to become

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knowledgeable in genetics has been expressed for the last three decades, to date, little genetics

instruction has been included as part of the undergraduate curriculum.

In 2011, The American Nurses Association (ANA) established a Consensus Panel that

described the Essential Genetic and Genomic Competencies for Nurses with Graduate Degrees

(Greco, Tinley, & Seibert, 2012). In addition to the ANA Consensus Panel’s decision, my

suggestion is that there is a need for increased genetic and genomic knowledge for both

undergraduate and graduate nurses along with increased knowledge of the ethical intricacies

required when dealing with genetic testing for clients. America is behind many countries in

establishing these competencies.

For example, In 2004, the French parliament passed a law protecting the professional title

of Genetic Counsellor or Genetic Nurse and establishing an educational program for individuals

seeking education in genetics(Pestoff, Ingvoldstad, & Skirton, 2016). The collaboration between

genetic counsellors and health professionals was initiated with genetic counsellors successfully

educated and integrated into the healthcare team. The collaboration of the genetic counsellors

with nurses relieved the nurses of the additional education required to become genetic specialists.

In 2012 Europe recognized the need for specially prepared counselors and nurses that

would work alongside the traditionally trained nurses so that patient care was not jeopardized

(Skirton et al., 2013). Eighteen European countries had 600 practitioners who were practicing

this form of multidisciplinary specialist genetic team six years ago with 256 as practicing

members of the European Network of Genetic Nurses and Counsellors (Skirton et al., 2013). The

counsellors were registered and could “float” between clinical facilities. In some European

countries, the nurses who have been trained in the specialty work alongside medical colleagues

in biology, genetics, pharmacogenetics, and psychology.

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Before the introduction of genetic counsellors and nurses in Sweden, genetic counselling

was the responsibility of the medical geneticists (Pestoff et al., 2016). However, the knowledge

of disease-causing genetic mutations spread to more healthcare settings leading to an increased

demand for genetic testing and the need for genetic counselling accompanying the testing, as

required by law in Sweden (Cassiman, 2005). The Swedish law on genetic integrity included a

declaration that genetic education and counselling were of utmost importance in order to provide

adequate healthcare(Pestoff et al., 2016). However, additional education is not inexpensive. In

2013, due to a lack of supportive professional infrastructure and an educational program,

university-level courses specific to genetic counselling were shut down. That is why I purpose

adding genetics to the nursing undergraduate curriculum which is already in place.

Integrating Genetics into Undergraduate Nursing

Professionals trained in the genetics specialties cannot meet the growing demand for

accurate and current genetic information. Primary care providers, including nurses, must be

prepared to identify and effectively respond to individual’s genetic health concerns as they arise

and to help individuals and their families incorporate new genetic information into their lives

(Lea & Lawson, 2000). To do this, all nurses must have the necessary genetics education and

knowledge.

The American Association of Colleges of Nursing (AACN), American Nurses

Association (ANA), and International Society of Nurses in Genetics endorse the Essentials of

Baccalaureate Education for Professional Nursing Practice and the Essentials of Master’s

Education in Nursing, and emphasize the importance of genomics in the advancement of nursing

education (American Nurses Association & International Society of Nurses in Genetics, 2017).

As required by the ANA, U.S. colleges and universities of nursing incorporate these

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competencies into their undergraduate and graduate curricula, but in many cases this is limited to

isolated lectures and lacks hands-on laboratory training (Hickey et al., 2018). A solution would

involve collaborating with basic science, microbiology, and biochemistry schools to collaborate

with these courses while producing nursing curricula and research. Additionally, colleges and

universities of nursing could add a nursing genetics course to their curriculum based on the

patients the students are likely to care for in the clinical setting.

Ethical Dilemmas of Genetic Testing

Genome sequencing is becoming more accessible and common for individuals who seek

personal genomic information through direct-to-consumer (DTC) genetic testing services.

However, the Food and Drug Administration (FDA) describes DTC genetic tests as indicative of

risk only, not diagnostic of genetic problems (O'Cathaoir, 2017). The FDA states that the results

cannot give a definitive answer as to whether one has or will develop the disease. Physicians are

quick to state that individuals will gain a greater benefit from genetic tests when their genomic

sequence becomes integrated into their healthcare so that clinicians and nurses can provide

knowledgeable advice and access to treatment options (Mattick et al., 2014).

The range of DTC genetic tests available is broad, including carrier tests for Mendelian

genetic disorders (rare diseases), life-style related genetic traits, pharmacogenomics, non-

invasive prenatal testing, paternity, romantic relationship testing, genomic risk profiles, and

recreational ancestry or genealogical tests (Harper et al., 2014). These different types of tests

bring different practical and ethical concerns. In the future, it is expected that DTC companies

will offer complete genomic mapping which means that every single trait or disorder related to

that individual in the past or future could be identified (Borry, Howard, Sénécal, & D., 2010).

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The commercial offer of carrier testing through the internet creates challenges of a

different type. The large number of disorders that are included in most of the screening panels

contrasts with the limited amount of disorders that are usually suggested to be screened by

physicians. Additionally, customers are referred to their individual physicians for further

interpretation of their test results. The majority of these companies “disclaim” any responsibility

for the quality of their service leaving the healthcare provider to explain to the patient why the

results may or may not be definitive (Borry et al., 2010).

Genetics in the Clinical Setting

Previous medical techniques incorporated the idea that a diagnosis resulted in the same

treatment for everyone. Recognition that complex disorders such as cancer, diabetes, and heart

disease have genomic determinants has resulted in changes to public health policies to include

the promotion of more prevention strategies. Today the practicing nurse will see care decisions

based on genomic science which takes into account individual differences, environmental

influences, and responses to treatment to improve disease and symptom management. A U.S.

national survey of the nursing workforce in 2013 reported that 57% of nurses believed that their

genomic knowledge base was fair or poor (Calzone, Jenkins, Culp, Bonham, & Badzek, 2013).

This statistic speaks to the significant gap regarding the preparation of the nursing workforce for

the future of personalized healthcare. Therefore, universities and colleges need to incorporate

more genetic and genomic training in their nursing curricula to educate nurses and give them

confidence in engaging with genomic-based techniques before they can contribute to patient-

based medicine.

The integration of genomics into the bedside nursing profession requires the recognition

of its applications and relevance to nursing clinical roles Nurses have a responsibility to patients,

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families, and communities to be informed of the potential ethical benefits and challenges of

genomics in the healthcare setting. Presenting genomic information to patients requires

knowledge of how to personalize and effectively communicate the application of this

information into maintaining or improving health and quality of life. Nurses at all educational

levels should be able to recognize important facts that might be associated with inherited

conditions. The tendency to form venous clots is just one hereditary trait that can affect quality

of life and activities of daily living for a patient and their family.

Case Study

The following fictional case study could be happening at any hospital today:

A 45-year-old Caucasian male presents to the emergency department with a sharp pain in his

right calf. During the examination, the physician notes pain, tenderness, and redness at the site. A

Doppler reveals a large blood clot or deep venous thrombosis (DVT). When questioned further,

the patient states that he has had this problem before, that he had been taking 81mg of aspirin

daily for his previously diagnosed blood clots, but has not had genetic testing for previous

clotting issues due to the fear that his employer might fire him. The genomically educated

physician and nurse could then explain that thrombotic conditions are usually not diagnosed until

the individual is symptomatic and that genetic tests offer opportunities for improving health

before the person is symptomatic. For example, preventive treatments can be selected based on

genomic outlines that identify a risk for increased clotting for the individual and clinical

discoveries can in turn lead to understanding disease or the application and development of new

medications for the genetic disorder. Additionally, a pharmacogenetics profile may describe a

specific medication over another that will benefit the individual.

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Genetic Information Nondiscrimination Act (GINA)

Fear of genetic testing is not uncommon. Many Americans fear that participating in

research or undergoing genetic testing will lead to being discriminated against based on their

genetic results. Such fears may prevent future patients from taking genomics-based clinical tests

or volunteering to participate in the research necessary for the development of new tests,

therapies, and cures. Therefore, in 2008 the Genetic Information Nondiscrimination Act (GINA)

was passed into law, prohibiting discrimination by employers and health insurers (National

Human Genome Research Institute, 2015). GINA makes it illegal to discriminate people based

on their genes in certain employment decisions and health insurance, but not outside those

realms, like in life, disability, or long-term health insurance (Garrison & Non, 2014).

In August, 2017, the United States District Court of the District of Columbia challenged

the GINA rules on workplace wellness programs when they stated the Equal Employment

Opportunity Commission (EEOC) should reconsider their rule that states it is permissible for

employer-sponsored wellness programs to offer inducements in exchange for employees’ health

and genetic information. Wellness programs, regulated in part by the Health Insurance

Portability and Accountability Act (HIPAA), prevent health plans and insurers from

discriminating on the basis of “any health status related factor,” but allow covered entities to

offer discounts or rebates to participants and their deductibles based on their compliance with a

wellness program. The cap for these inducements by the EEOC was set at 30 percent of the cost

of health insurance for a single person and was designed to maintain the voluntary nature of

workplace wellness programs. In AARP v. EEOC, the American Association for Retired Persons

challenged EEOC’s rule allowing the 30 percent inducement, arguing that due to the large value

of the cap, it is in no way voluntary, and, therefore, coercive (AARP v. EEOC, 2017). The

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resulting court decision stated that EEOC had not adequately explained why it concluded that the

cap was reasonable and stated the agency should reconsider the rule and develop an explanation

for the connection between the cap and volunteerism (National Human Genome Research

Institute, 2015). The explanation by the EEOC has yet to be submitted.

Additional Ethical Dilemmas Nurses May Encounter

Each person’s DNA sequence includes health and other information about them and their

families. Technological advances mean that it is now cheaper and easier than ever to sequence

and interpret genomic information. Whether genomic information is being used for research,

health maintenance, or other uses, it is important to consider how best to ensure that individual’s

privacy is respected.

Ethical dilemmas nurses may encounter include the rural patient’s ability to access care

along with affordable and equitable care. Cultural diversity and caring for individuals with

different values and traditions can present challenges in the practice setting as the nurse

incorporates these values into the personalized care of the individual. Genetic testing technology

should be available to all, but many nurses in the workforce today are not up to date on the

current genetic and genomic testing topics. Many nurses and physicians graduated before genetic

testing was common practice. Yet, patients may present having learned their genetic profile

through an online service, putting the clinician in an awkward position. Education about what

types of tests are available and how it can be used appropriately without causing distress to

patients can help practitioners with this ethical issue.

The International Society of Nurses in Genetics (ISONG)

An example of a non-traditional group of nurses is The International Society of Nurses in

Genetics (ISONG). Their mission is: Caring for people’s genetic and genomic health throughout

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the lifespan and across the continuum of health and disease (International Society of Nurses in

Genetics (ISONG), 2018). Collaborative work between ISONG and other organizations such as;

the American Association of Colleges of Nursing, the American Nurses Association, and the

European Association of Nurses, foster engagement of the entire nursing workforce to genomics.

In the future, a collaboration between ISONG members and academic instructors could facilitate

an understanding of the future of genetics and genomics and how best to educate students. By

identifying obstacles in educating the nursing workforce in genomics, ISONG could serve as a

mechanism for additional training in genomic competencies through an annual international

conference and other educational resources.

Conclusion

In the past 10 years, identification of genomic differences that play a role in disease

diagnosis, prevention and progression have enhanced our understanding of the biology of

disease, resulting in more personalized therapies. These therapies in turn influence healthcare

decisions about disease treatment. Nurses are critical members of the healthcare workforce and

with appropriate education and training in genomics, can engage in practice and research that

greatly contributes to realizing the potential of precision medicine (Williams, Katapodi, &

Starkweather, 2015). Genetic privacy isn’t a fear that is going away; it will only grow as our

capability and understanding of genetics increases. Nurses educated in the ethics of genetics

bring an important perspective to the application of genomics through the concentration on

health promotion, caring, and the understanding of individuals, including their cultural attitudes,

beliefs, relationships with families, the community, and society (Calzone et al., 2010).

Examining ethical dilemmas about genetic testing through feminist theories that address caring

provides a valuable viewpoint for addressing this problem.

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References

AARP v. EEOC. (2017). United States District Court for the District of Columbia. 16-2113

(JDB), 1-9.

American Nurses Association, & International Society of Nurses in Genetics. (2017).

Genetics/Genomics Nursing: Scope and Standards of Practice. Silver Springs, MD:

Nursebooks.

Auerbach, D., Buerhaus, P., Staiger, D., & Skinner, L. (2017). 2017 Data Brief Update: Current

Trends of Men in Nursing. from

http://healthworkforcestudies.com/publications-data/data_brief_update_current_trends_of

_men_in_nursing.html

Borry, P., Howard, H. C., Sénécal, K., & D., A. (2010). Health-related direct-to-consumer

genetic testing: A review of companies' policies with regard to genetic testing in minors.

Familial cancer, 9(51).

Bureau of Labor Statistics. (2016). U.S. Department of Labor. Occupational Outlook Handbook.

Retrieved August 6, 2018, from https://www.bls.gov/ooh/healthcare/registered-

nurses.htm

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), 26-35. doi: 10.1016/j.outlook.2009.05.001

Calzone, K. A., Jenkins, J., Culp, S., Bonham, V. I., & Badzek, I. (2013). National nursing

workforce survey of nursing attitudes, knowledge, and practice in genomics. Perspectives

on Medical Education, 10(7).

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Calzone, K. A., Jenkins, J., Culp, S., Caskey, S., & Badzek, L. (2014). Introducing a New

Competency Into Nursing Practice. Journal of Nursing Regulation, 5(1), 40-47. doi:

10.1016/S2155-8256(15)30098-3

Camak, D. J. (2016). Increasing importance of genetics in nursing. Nurse Educ Today, 44, 86-91.

doi: 10.1016/j.nedt.2016.05.018

Cassiman, J.-J. (2005). Research network: EuroGentest – a European Network of Excellence

aimed at harmonizing genetic testing services. European Journal of Human Genetics, 13,

1103. doi: 10.1038/sj.ejhg.5201484

Fry, S. T., Veatch, R. M., & Taylor, C. (2011). Case Studies in Nursing Ethics. Sudbury, MA:

Jones & Bartlett Learning.

Garrison, N. A., & Non, A. L. (2014). Direct-to-Consumer Genomics Companies Should Provide

Guidance to Their Customers on (Not) Sharing Personal Genomic Information. American

Journal of Bioethics, 14(11), 55-57. doi: 10.1080/15265161.2014.959320

Greco, K. E., Tinley, S., & Seibert, D. (2012). Essential genetic and genomic competencies for

nurses with graduate degrees. Silver Springs, MD: American Nurses Association and

International Society of Nurses in Genetics.

Harper, J., Geraedts, J., Borry, P., Cornel, M. C., Dondorp, W. J., Gianaroli, L., . . . EuroGentest.

(2014). Current issues in medically assisted reproduction and genetics in Europe:

research, clinical practice, ethics, legal issues and policy†. Human Reproduction, 29(8),

1603-1609. doi: 10.1093/humrep/deu130

Hickey, K. T., Taylor, J. Y., Barr, T. L., Hauser, N. R., Jia, H., Riga, T. C., & Katapodi, M.

(2018). Nursing genetics and genomics: The International Society of Nurses in Genetics

(ISONG) survey. Nurse Educ Today, 63, 12-17. doi: 10.1016/j.nedt.2018.01.002

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International Society of Nurses in Genetics (ISONG). (2018). Mission and Vision. from

https://www.isong.org/page-1325057

Lea, D. H., & Lawson, M. T. (2000). Educational innovations. A practice-based genetics

curriculum for nurse educators: an innovative approach to integrating human genetics

into nursing curricula. Journal of Nursing Education, 39(9), 418-421.

Liu, Y. (2008). A new perspective on Darwin's Pangenesis. Biol Rev Camb Philos Soc, 83(2),

141-149. doi: 10.1111/j.1469-185X.2008.00036.x

Mattick, J. S., Dziadek, M. A., Terrill, B. N., Kaplan, W., Spigelman, A. D., Bowling, F. G., &

Dinger, M. E. (2014). The impact of genomics on the future of medicine and health. Med

J Aust, 201(1), 17-20.

Montgomery, S., Brouwer, W. A., Everett, P. C., Hassen, E., Lowe, T., McGreal, S. B., &

Eggert, J. (2017). Genetics in the clinical setting. Official Journal of the American

Nurses Association, 12(10).

National Human Genome Research Institute. (2015). Genetic Discrimination. Retrieved from

https://www.genome.gov/10002077/genetic-discrimination/.

National Institute of Health, N. (2018). Help me understand genetics. Bethesda, MD 20894:

Department of Health & Human Services

Retrieved from https://ghr.nlm.nih.gov/primer.

Nesse, R. M., Bergstrom, C. T., Ellison, P. T., Flier, J. S., Gluckman, P., Govindaraju, D. R., . . .

Valle, D. (2010). Making evolutionary biology a basic science for medicine. Proceedings

of the National Academy of Sciences, 107(suppl 1), 1800-1807. doi:

10.1073/pnas.0906224106

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Noddings, N. (1989). Caring, a feminine approach to ethics & moral education. Berkeley:

University of California Press.

O'Cathaoir, K. (2017). Direct to consumer genetic testing: Risks and opportunities. O'Neill

Institute for National & Global Health Law.

Ortner, S. B. (1974). Is female to male as nature is to culture? In M. Z. Rosaldo & L. Lamphere

(Eds.), Woman, culture, and society (pp. 68-87). Stanford, CA: Stanford University Press.

Pestoff, R., Ingvoldstad, C., & Skirton, H. (2016). Genetic counsellors in Sweden: their role and

added value in the clinical setting. European Journal of Human Genetics, 24(3), 350-355.

doi: 10.1038/ejhg.2015.110

Skirton, H., Cordier, C., Lambert, D., Hosterey Ugander, U., Voelckel, M.-A., & O’Connor, A.

(2013). A study of the practice of individual genetic counsellors and genetic nurses in

Europe. Journal of Community Genetics, 4(1), 69-75. doi: 10.1007/s12687-012-0119-8

Williams, J. K., Katapodi, M. C., & Starkweather, A. R. (2015). Advanced nursing practice and

research contribution to precision medicine. Nurse Education Today, 64, 117-123.