Running head: GENETICS AND GENOMICS IN HEALTHCARE 1

Genetics and Genomics in Healthcare

Clare Hesse

University of Saint Mary

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Abstract

Advances in genetics and genomics testing have proven to be controversial in the

healthcare field and influences health practices in several ways. Because of this, it is crucial that

nurses and healthcare professionals understand genetics and genomic data and can communicate

it to patients. Advances in genetics and genomics require better education in nursing and

healthcare curriculum, continually increase accessibility and affordability, and create

personalized healthcare.
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Genetics and Genomics in Healthcare

Genetics and genomics in healthcare has become significantly important in the world

today. New advances in genetics and genomics testing have proven to be increasingly controversial

in the healthcare field and influences health practices in many ways. Because of these advances, it

is crucial that healthcare professionals understand genetics and genomics and interpret the

information to put it into practice. Genetic and genomic advances in our world today call for better

education in the healthcare fields, allow increased accessibility and affordability, and create

improved personalized healthcare.

Many people confuse the concepts of genetics and genomics and think they are the same,

but there is a distinct difference. Genetics refers to the study of genes and their role in inheritance—

the way certain traits or conditions are passed down from one generation to another. On the other

hand, genomics is a newer term and refers to the study of all a person's genes including interactions

of those genes with each other and the person's environment (Potter, Perry, Hall, Stockert, 2016).

Using genomic information allows health care providers to determine how genomic changes

contribute to patient conditions and influence treatment decisions (Potter et al., 2016). Together

genetics and genomics research and tests can provide information to families and healthcare

professionals in order to better lives.

Genetics and genomics testing is extremely beneficial to individuals and their families. A

study showed from responses of adult patients that there are many benefits and negative

consequences of genetic testing. Some benefits include but are not limited to early detection to

prevent the disease, modify lifestyle choices to decrease risk of contracting disease, obtain

information about the disease and conditions to prepare themselves and family members,

reproductive decision-making, and health-care decision making (Houfek, Soltis-Vaughan,

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Atwood, Reiser & Shaefer, 2014). In the context of reproduction, many couples want to know if

there will be genetic complications with their child and then consider whether to conceive or

adopt a child. In other cases, genetic testing is done to prepare the family for what is going to

happen (Houfek et al., 2014).

On the opposite side from the positive effects are the negative effects of genetic testing.

Healthcare providers must let the patients know of all negative and positive effects of genetic

testing before going through the whole process (Badzek, Henaghan, Turner, & Monsen, 2013).

There are many negative effects as well as benefits which include but are not restricted to

psychological distress, discrimination, ethical/moral and religious issues, doubting

knowledge/decision-making, hopelessness, confidentiality issues, and relationship problems

(Houfek et al., 2014). In the study conducted, psychological distress was the highest ranked

negative effect felt from genetic testing and consists of negative thoughts and emotions and some

could not even handle the results obtained and became suicidal (Houfek et al., 2014). The

remaining negative effects were ranked but the results were not as significantly high as the

psychological distress.

Genetics and genomics testing is important to individuals and their families, and must be

regarded as so. Before taking a DNA sample, healthcare providers must discuss the categories of

potential results with the patient (Prows, Tran, & Blosser 2014). Healthcare providers need to

interact with the patient to confirm that he/she completely understands in their own way what the

consequences are, as well as what options and decisions he/she can make about his/her healthcare

treatments in the future (Badzek et al., 2013). Informed consent means that healthcare providers

need to be specific and detailed when they communicate the issues that could arise. It also requires

that the healthcare professionals listen to the patient to make sure he/she has relayed understanding
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of the issues and possible decisions in the matter (Badzek et al., 2013). The reason for informed

consent is because unexpected gene variations can be discovered, even if they were not the primary

purpose of the test (Prows et al., 2014). This discovery of an unexpected gene variation could cause

any one of the negative effects in the above paragraph and cause the client to become anxious.

When nurses provide care to patients and families with genetic diseases and conditions, they must

also provide patient education and support for the decisions made about genetic testing and the

services provided (Prows et al., 2014). This means that nurses must educate the individuals about

the options they have for moving forward and give them information to help them make decisions

based upon the given genomic results. In order for nurses and healthcare professionals to educate

their patients, they must have adequate knowledge of genetics and genomics so they can relay the

information to the patient in words that he/she understands (Badzek et al., 2013).

With the knowledge and new information learned from genetic and genomic testing, the

need for better education of nurses and healthcare professionals is rising. Nurses are expected to

know and demonstrate an understanding of the connection between genetics and health—which is

crucial to protect the patient from harm. Education regarding genetics and genomics into the

nursing and healthcare curriculum is needed, however, there are limitations to the integration of

genomics into the curriculum (Badzek et al., 2013). The curriculum would have to be specialized

and focused towards genetics—whereas now genetics is only periodically talked about. Even

though education in this area is lacking, nurses are still liable and subject to the consequences if

they fail to integrate genetic and genomic competencies into the practice of nursing (Badzek et al.,

2013). This is not just an issue in the United States, but a worldwide issue. Genetics and genomics

knowledge is thought not to be properly integrated into nursing education curriculum at an

acceptable level in any country (Kirk, Calzone, Arimori & Tonkin, 2011). In order to fix this
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problem, genetics and genomics information needs to be integrated into education so nurses and

healthcare professionals can promote safe and effective patient care and decrease the risk for legal

and ethical issues (Badzek et al., 2013).

Another change that comes with the progression and advance of genetics and genomic

research is the increasing accessibility and affordability of testing. The ease with which genetic

testing is available has proven to be a growing industry. Direct to consumer testing (DTC) is only

the beginning of cost efficiency and worldwide accessibility of genetic and genomic mapping of a

person (Bloss, Darst, Topol & Schork, 2011). Due to this, current knowledge of genomics in nurses

and other healthcare professionals needs to be improved in relaying the information, effect it can

have on patient, and use to individualize genetic and genomic information (Bloss et al., 2011). As

genetic and genomic testing become more easily retrieved, it will give people a precursor to

diseases that could develop later in their life. This can help individuals better prepare themselves

for what is to come and become aware that they could potentially pass down diseases to children.

It gives individuals time to find out what care will be best for him/her. Genetic testing is able to

be bought online or sent through the mail—making it available and more affordable all over the

world (Badzek et al., 2013).

Though increasing affordability and availability seems like strictly a good thing, there are

both pros and cons to DTC testing. Those opposed to DTC testing are concerned that the tests are

inconsistent due to different agents used to test DNA, which could result in a false positive or false

negative (Bloss et al., 2011). If a consumer obtains a false positive result he/she may become

worried because of his/her results or anxious due to incorrect results, which then leads to expensive

and unnecessary medical treatments (Bloss et al., 2011). On the other hand, a false negative could

lead to false reassurance and fail to take preventative measures against diseases and conditions
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(Bloss et al., 2011). Proponents in large, agree that the denial of access to their own genomic

information is discriminating and wrong. The proponents of DTC testing claim that it gives

consumers the opportunity to educate themselves and take preventative and active measures to

reduce the risk of contracting diseases. Some proponents are also fearful that if they do genetic

testing through health care providers that they will be victims of genetic discrimination because

their information will be documented on medical records and are consequently in support of DTC

testing (Bloss et al., 2011).

Although affordability and availability are thought to be largely a benefit to society, there

are also ethical issues and legal challenges that arise from genetic testing. Genomic information is

an essential aspect of an individual and an integral part of knowing and finding one’s place in the

world (Badzek et al., 2013). It is crucial that businesses and employers do not define an individual

by his/her genetic differences and must respect a person’s uniqueness. This is becoming a problem

because people are discriminating based upon genetic traits across various communities. All

healthcare providers are required to keep genetic and genomic information confidential and

private. An arising ethical problem with genomic information is a breach of confidentiality.

Genomic information is gaining the attention of employers, insurers, and others as the use of

genomics is increasingly developed in healthcare (Badzek et al., 2013). Because of increasing

discrimination based upon the genomics of an individual, The Genetic Information

Nondiscrimination Act (GINA) of 2008, was put into place. This act safeguards individuals from

being excluded by employers and health insures based on leaked genetic health information

(Badzek et al., 2013).

While there are some legal and ethical issues regarding genetic and genomic testing,

another positive aspect is that it gives rise to personalized healthcare. Knowing the specific genome
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and genetics of an individual can assist healthcare professionals in providing better care of a patient

that is specified to him/her. Genomic and genetic developments help healthcare professionals

understand how genomics and genetics influence the development of disease, protective measures,

and medications and treatments (Quevedo Garcia, Greco & Loescher, 2011). Genetic testing has

also proved to be able to predict disease vulnerability to chronic conditions such as Alzheimer’s

disease, asthma, cancer, diabetes mellitus, cardiovascular disease, and obesity (Quevedo Garcia et

al., 2011). This could change the future of healthcare by using preventive measures and avoiding

chronic conditions and diseases. Another aspect of personalized healthcare is medications.

Medications can now be tailor made to fit an individual’s specific genetic make-up, which can

then better target the disease processes. This expanding field of genomic and genetics is being

increasingly integrated into the practice of nursing and will continue to affect healthcare services

(Quevedo Garcia et al., 2011). Therefore, it is critical that genetics and genomics education be

included in not only the nursing curriculum, but all healthcare curriculum.

In conclusion, genetic and genomic advances in our world are widely controversial and

have proved to possess beneficial and valuable outcomes, as well as some detrimental

consequences. Since genomic information is a vital component of the human person, nurses and

health care providers must remain confidential, professional, and knowledgeable of all possible

genomic results and relay them to the patient. The value of these advances requires better education

in the healthcare fields, increase access and better affordability, and improve healthcare to be

individualized for each specific person. Genetics and genomics in healthcare is growing and

progressing and will continue to grow and affect healthcare services. Due to the continual

progression of this field, it is crucial that healthcare fields across the board make sure to be
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educated or educate themselves in the understanding of and how to integrate genetics and

genomics into the perspective practices.

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References

Badzek, L., Henaghan, M., Turner, M. & Monsen, R. (2013). Ethical, legal, and social issues in

the translation of genomics into health care. Journal of Nursing Scholarship, 45(1), 15-

24. doi: 10.1111/jnu.12000

Bloss, S.C., Darst, B.F., Topol, E.J. & Schork, N.J. (2011). Direct-to-consumer personalized

genomic testing. Human Molecular Genetics. doi: 10.1093/hmg/ddr349

Houfek, J. F., Soltis-Vaughan, B. S., Atwood, J. R., Reiser, G. M. & Schaefer, G. B. (2014).

Adults' perceptions of genetic counseling and genetic testing. Applied Nursing Research

28 (1), 25-30. doi: 10.1016/j.apnr.2014.03.00

Kirk, M., Calzone, K., Arimori, N. & Tonkin, E. (2011). Genetics-genomics competencies and

nursing regulation. Journal of Nursing Scholarship, 43(2), 107-16. doi: 10.1111/j.1547-

5069.2011.01388. x

Potter, P. A., Perry, A. G., Hall, A. & Stockert, P. A. (2016). Fundamentals of nursing (9th ed.).

St. Louis, MO: Mosby Elsevier.

Prows, C. A., Tran G. & Blosser, B. (2014). Whole exome or genome sequencing: nurses need to

prepare families for the possibilities. Journal of Advanced Nursing 70(12), 2736-2745.

doi: 10.1111/jan.12516

Quevedo Garcia, S.P., Greco, K.E. & Loescher, L.J. (2011). Teaching strategies to incorporate

genomics education into academic nursing curricula. Journal of Nursing Education,

50(11), 612-619. doi: 10.3928/01484834-20110715-04

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Appendix

I. Introduction

a. Genetics and Genomics advances are helpful and important in world today

b. Thesis: Genetic and genomic advances in our world today call for better education

in the healthcare fields, allow increased accessibility and affordability, and create

improved personalized healthcare.

II. Body/Content

c. What is genetics and genomics

i. Definitions

ii. Difference between the two

d. Benefits of Genetic testing

i. Different types of benefits

e. Negative effects of Genetic testing

i. Different types of benefits

f. Informed consent

i. Importance of informed consent

ii. Patient understanding

iii. Nurses knowledge of genetics and genomics to explain to patients

g. Better education on genetics and genomics

i. Teach genetics and genomics in nursing school

ii. Healthcare professionals need to educate selves

1. Can become liable for problems that arise

iii. Ethical, legal problems that arise from absence of education

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h. Accessibility and affordability

i. Availability to all

ii. Affordable to all

iii. DTC testing

1. Pros

2. Cons

i. Legal and Ethical Challenges

i. Confidentiality

ii. Discrimination

iii. GINA

j. Personalized healthcare

i. Medications

ii. Prevention

iii. Development of disease

III. Conclusion

k. Restate thesis and conclude paper