Abby Miller

Dr. Anne McCabe

ENGL 1900

December 14, 2016

The Power of the Human Genome:

A Psychological and Ethical Discussion of Genetic Screenings

Introduction

In the 1950s Rosalind Franklin used X-ray to capture a photograph of

Deoxyribonucleic Acid, or DNA (Science: DNA, 2014). Her work would then be

analyzed by the scientists, James Watson and Francis Crick, who would famously be

credited with the discovery of the molecules revolutionary structurethe double helix

(Science: DNA, 2014). The structure allows DNA to have a self-replicating function,

enabling genes to be copied, and cells to duplicate (Science: DNA, 2014). While this

process is vital to life, it can also be vital to disease and death. Mutations, or the alteration

of a gene, can be destructive, and when not caught by our cells protection mechanisms,

lead to diseases (Science: DNA, 2014). Tumor growth, for example, is a mutation of

the gene P-53, a gene that usually acts as a tumor suppressor. Each time the DNA of that

mutated cell is replicated the mutation is copied, allowing for the growth of a tumor.

Hidden within that DNA double helix lies the code to life. Each gene corresponds

to a specific set of traits that make a person who they are. OCA2 and HERC2 are two of

the genes identified for determining eye color, for example (Science: DNA, 2014).

There are other genes that are responsible for regulating hair color, metabolism, and any

other aspect of human functioning conceivable. The importance of DNA is not

controversial, but the power of the molecule and secrets hidden inside the double helix

have proven to be.

 Miller 2

The discovery of DNA, though integral to medical progress, was not the first

discovery important to genetic testing. Chromosomesmolecular strands that house

DNA and its encoded geneswere discovered in the late 1800s followed shortly by the

hypothesis that diseases were somehow linked to chromosomes (Science: DNA, 2014).

After the double helix was discovered, the link between DNA, the chromosome, and

diseases became clear. Genetic testing was initially used to make or confirm a diagnosis

of a genetic condition so that early interventions and treatments could be

administered, (Genetic Testing 2013). Testing still provides preventative measures as

it was originally intended, but it also is leading us into a completely new realm of

medicine.

Genetic testing is, by definition, a medical analysis of a patients DNA to identify

mutations within the chromosomes, genes, or proteins (Help Me Understand Genetics,

2016). The information provided by such a test holds a lot of power. It can detect the

presence of certain diseases or identify the risk that a patient has for contracting a certain

disease. Initially the possibilities of genetic testing seemed solely positive; in recent

decades however, testing has become a controversial topic with debates forming on the

ethical and psychological implications of such knowledge. Today, genetic testing can

identify over 2000 conditions, serving as an example of modern scientific power that

needs to be used cautiously, with an understanding of its impact. The psychological and

ethical implications, magnified by testing in pediatrics and the modern complications of

screenings, need to be reviewed in order to truly understand the power genetic testing

holds.

Psychological Implications of Genetic Testing

 Miller 3

The results from a genetic test can cause a multitude of reactions, perhaps the

most logical two being relief or distress. Imagine a hypothetical situation in which a man

has Huntingtons disease (HD) in his family history. Huntingtons disease attacks brain

cells causing degeneration, robbing the victim of movement, cognitive, and psychological

control (Huntingtons Disease Symptoms, 2016). At 30 years old, he knows that within

the next ten years his life could be drastically changed and shortened by the disease.

Opting to get tested is not an easy choice. Finding out he does have the disease may lead

to clinical depression or thoughts of suicide. However, results saying the Huntingtons

mutation is absent could give him great relief, sparing him the anxiety of the unknown.

In a review of several scientific studies, The National Society of Genetic

Counselors reports clinical patient reactions to a positive Huntingtons test similar to the

hypothetical reactions above: Immediately following testing, scores highlighted an

increase in distress with an escalation in thoughts and feelings associated with intrusion

and avoidance, as well as for a negative HD test: Non-carriers appeared to experience a

decrease in depression and anxiety one year post-test and in hopelessness up to ten years

post-test, compared to baseline scores, (Crozier, Robertson, & Dale, 2014). The results

of the reviewed research follow logicto receive a diagnosis that is either positive or

negative would warrant strong reactions.

That being said, the decision to get tested is not undertaken on a whim. While it

has been shown that adverse reactions occur after a positive screening, they can also have

a beneficial impact on the patient. Andrea Farkas of the American Psychological

Association believes that, In general, many people find knowing their results helpful and

empowering, and professional support is often helpful (Farkas, 2013). Knowing, in

 Miller 4

other words, is comforting. To be able to plan for the risk or onset of a disease may have

a calming effect on the patient. This calming effect may explain why the review from

the National Society of Genetic Counselors also reported After an initial peak in

hopelessness after the test, carriers scores showed a general decrease from one year

onwards, (Crozier et al. 2014). These results may also be due to the fact that, one-year

post test, patients are starting to come to terms with the results and have grown to accept

their fate.

The psychological response following a negative screening is just as complex as

that for a positive result. For those who were determined as non-carriers of Huntingtons

Gargiulo et al. (2009) says, some studies reported a positive psychological impactwith

a significantly lower level of hopelessness and distress (as cited in Crozier et al., 2014).

However, a negative result does not always guarantee an improved psychological state. In

the case of terminal illnesses that have strong genetic lineages, like Huntingtons, those

who receive a negative screening may experience survivors guilt, or remaining healthy

whilst others will test positive and develop the diseaseespecially if other family

members are showing signs and symptoms of the disease (Crozier et al., 2014; Hayden &

Bombard, 2005).

It is sufficient to note that there is an assumption regarding genetic testing often

made in research, that the results have a consistent influence on many aspects of the

counselees life (Vos et al., 2010). However, the authors of a study surrounding the

psychological impact of increased, decreased, or un-affirmed risks of breast cancer, say a

direct influence only exists for the counselees decision for surgery, which is directly

predicted by the communication of a pathogenic or uninformative DNA test result (Vos

 Miller 5

et al., 2010). According to the study in Vos et al. (2010), only those who opt for further

treatment have a prolonged response to the results. These results can be applied to breast

cancer, as that was the focus of the study, but also reflect the field of genetics as a whole.

Post-testing decisions are important after a patient is tested for any disease, and as seen

above, have an impact on the psychological state of the patient.

While the decisions made post-testing are influential in the psychological

response, they are no more so than the pre-test decisions. The choice to be tested is driven

by a variety of psychological motives. Decruyenaere et al. (1997) lists reducing

uncertainty, shaping reproductive choices, responding to reactions of family members and

practical planning, as well as fears of coping in the event of a positive test result, as such

psychological motives (as cited in Crozier et al., 2014). Patients reasons for testing may

impact their psychological status after receiving results, as their motives are a reflection

of their ability to handle the outcomes. Someone testing chromosome 4 for the

Huntingtons disease mutation in order to make decisions on starting a family may be

better equipped to handle a positive screening than someone who is testing to reduce

uncertainty. Both have different assumptions regarding the result when they make the

decision to test. Planning a family around a result suggests one is prepared for the

outcome either way, but testing to reduce uncertainty suggests one is counting on a

negative diagnosis. It is when individuals receive a diagnosis contradicting their,

conscious or unconscious, expectations that they are most heavily impacted

psychologically (Hayden & Bombard, 2005).

An Ethical Discussion
 Miller 6

Just as in the psychological debate surrounding genetic testing, there are differing

opinions on the ethical challenges posed by testing. There are two important ethical

considerations to be made when discussing genetic screenings. Firstly, an examination of

genetic discrimination is appropriate. In the United States patients are protected by the

Health Insurance Portability and Accountability Act, otherwise known as HIPAA. This

act holds the physician accountable to their duty of confidentiality, preventing them from

disclosing confidential information regarding a patients medical status without consent.

HIPAA, however, does not include protection of genetic information. Janet K. Williams,

Heather Skirton, and Agnes Masny reflect on the lack of genetic protection, known as

genetic discrimination. Genetic discrimination is the loss of social benefits, such as

employment or insurability, based on ones genetic characteristics (Williams, Skirton, &

Masny, 2006). Without protection from HIPAA peoples genetic information is vulnerable

and can cause discrimination dependent upon the results from a screening. This particular

ethical dilemma is one major factor in the decision to get tested. Williams et al. (2006)

cite a study by Armstrong et al. (2003) that reports 55 percent of women who are at risk

of having the BRCA1 mutation, cited fear of life insurance discrimination as a moderate

or important factor in their testing decision (as cited in Williams et al., 2006). It is not

unlikely that this response is indicative of patients across the board discrimination from

either an employer or insurance company is not something to be taken lightly.

Sharing information is not only a concern with employers or insurance

companies, but is also a familial matter. Genetic mutations are hereditary; therefore a

positive screening may imply that other family members are also at an increased risk for

said disease (Wendelsdorf, 2013). Results from genetic tests can both reveal information
 Miller 7

about family members who did not wish to be tested, or can create problems when family

members are at risk but patients do not wish to divulge their own status (Williams et al.,

2006). There are differing viewpoints on how physicians should handle such situations.

Laberge & Burke write in the AMA Code of Medical Ethic Opinions on Genetic Testing

(2009) that a physician has a duty to patient confidentiality that restricts them from

communicating genetic risk to a family member based on patient test results regardless of

the nature of the potential diseases, (as cited in Wendelsdorf, 2013). The American

Society of Human Genetics (1998), on the other hand, believes that disclosure of genetic

risk to a patients relative should be permitted if (i) disease is highly likely to occur; (ii)

the disease is serious and imminent; and (iii) the disease is preventable and

treatable (as cited in Wendelsdorf, 2013). Patients who chose to withhold genetic

information from their families create a conflict between the principles of confidentiality

and doing no harm (Williams et al., 2006).

The second of the two major ethical considerations to be made when testing is

related to consentor rather lack of consent. Those who do not have the capacity to

make medical decisions, namely children and adults who are mentally disabled, still need

to be protected. It is the physicians duty to ensure that their privacy and best interests are

protected (Williams et al., 2006). Difficulties arise when the patient may not directly

benefit from the test but the family would. Altruistic behaviors of mentally disabled

persons have been studied. Some, like author Paul Penner, believe that the inability for

mentally disabled persons to develop abstract thought is correlated to and concludes that

they cannot engage in altruistic behavior (Penner, 1995). However, the Genetic Interests

Group during the Joint Committee on Medical Genetics (2004), strongly argue that
 Miller 8

people with learning disabilities or dementia should not be presumed to be less altruistic

than are others in the community (as cited in Williams et al., 2006). This debate on

altruism amongst the mentally disabled grounds the ethical debate on their consent, or

lack there of, for genetic testing for the benefit of someone other than themselves. The

Cambridge English Dictionary defines Altruism as willingness to do things that bring

advantages to others, even if it results in disadvantage for yourself (Altruism Definition,

2016). Taking the later stance on altruism in mentally disabled persons would imply that

there is no ethical dilemma regarding disabled persons being tested for the benefit of their

families. Taking Penners (1995) stance would create an ethical issue, as without the

ability to engage in altruistic acts, there would be no willingness on the patients behalf to

be tested in light of the lack of self-benefit. In an altruistic case there is not a concern of

doing no harm, namely because there is no risk to the patient to be tested, but a greater

concern for the patients privacy (Williams et al., 2006). The patients autonomy is at

stake, and their inability to make medical decisions for themselves complicates the

decision to test for familial benefit.

Pediatric Screening

The pediatric population poses these discussed psychological and ethical

implications on a greater, more challenging, scale. As the American Society of Human

Genetics points out, though parents have their childrens best interests in mind, a request

for genetic testing can often have more harmful outcomes than anticipated (Wilfond et

al., 1995). Typically speaking, genetic testing is only recommended when the potential

medical benefit greatly outweighs the risks; but of course there are exceptions.
 Miller 9

One such exception is newborn screenings, of which approximately 4 million

infants in the United States undergo each year (Ross et al., 2013). These infants are

tested for conditions in which an early diagnosis, leading to early treatment, would lower

the chances of morbidity or mortality (Ross et al., 2013). Just as children, infants do not

have the capacity to make medical decisions; however, newborn screenings are justified

by their discernible effectiveness. For example, phenylketonuria (PKU) is tested for due

to its cost-effectiveness and ability to reduce unnecessary treatment as well as morbidity.

Testing for PKU became regulatory in 1961 when such reasons made wide-scale

population screening both feasible and acceptable (Ross et al., 2013). The only other

genetic screening seen as wholly acceptable for children and adolescents is paternity

testing.

Aside from newborn screenings and paternity tests, the screening of children is

quite uncommon. Usually, it is recommended that if there is no immediate medical

benefit for the child, that genetic testing be deferred (Wilfond et al., 1995). Testing a child

when it is not absolutely necessary creates several problems. The child could face

discrimination for their condition, including discrimination from parents; the child could

be resentful towards the parents at a later age if they wished they had not been tested; or

parents could be falsely led to believe their child has a susceptibility to disease, take

unnecessary precautions, and be overbearing to the child (Wilfond et al., 1995). That is

not to say that there are absolutely no benefits to pediatric screening. If the test would

refine a prognosis, clarify a diagnosis, reduce uncertainty, or aid in the treatment plan of a

child, testing can be considered (Wilfond et al., 1995).

 Miller 10

Carrier testing, as described above, is the most controversial genetic testing in

pediatrics. However, there are other situations in which testing may be considered.

Histocompatibility testing is widely accepted because there is a 25 percent chance of

siblings having identical bone marrow, making the test beneficial to family members

without creating a risk for the child (Ross et al., 2013). Pre-adoption testing is slightly

less accepted and in fact widely debated. With the rights of the adoptive parents in mind,

and the fact that they may be adopting to avoid passing on certain genetic diseases they

themselves are carriers for, adoptive children have been given the same rights as

biological children (Ross et al., 2013). This means they are protected from unnecessary

testing, especially with the possibility of having a stigmatizing diagnosis that interferes

with permanent placement (Ross et al., 2013). Children are an extremely vulnerable

population with very little voice in what happens to themit is important that their best

interests are kept in mind when determining the need for genetic testing. Adults pose a

certain simplicity. Yes testing comes along with its implications, but children magnify

those effects, making the field of pediatrics a challenging one.

Modern Complications

Gone are the days when people had to rely solely on a medical professional for

knowledge of their health status. As medical knowledge and technology has progressed

over the years, so too has the consumers access to it. Direct-to-Consumer (DTC) genetic

screening allows the consumer to extract a sample of DNA at home and send it away for

testing. The results are then mailed back to the consumer directlythere is no

involvement of a healthcare practitioner (Help Me Understand Genetics, 2016). This

missing link is where the controversy with DTC testing lies, people can acquire certain
 Miller 11

genetic information about themselves without the opportunity to discuss it with a

healthcare professional (Williams et al., 2006). With DTC people dont generally

consider the benefits and risks to being tested. This lack of understanding can create both

psychological and ethical issues. Lack of preparation for the results, let alone the lack of

ability to comprehend the results, as well as the privacy of the information obtained,

creates much debate in the field of genetics. There is also an issue with false advertising

companies promote false and misleading products for a profit and leave people with

fabricated genetic information (Williams et al., 2006). For this reason, the Federal Drug

Administration and Federal Trade Commission in the United States oversee the DTC

market (Williams et al., 2006). People are becoming more invested in their own

healthcare and less reliant on the sole opinion of a doctor. Shifts like this in medicine are

directing people towards more self-induced care, but the risks of such advancements need

to be strongly considered and evaluated. With the proper systems in place, such as readily

available genetic counseling for those who utilize DTC, medicine could progress in a

positive direction.

Personalized medicine is another progressive avenue in which genetics is guiding

medicine. This new term, personalized medicine, is the idea that each patient requires

individualized treatment for their condition determined by their genome. Physicians have

noted that there are individual differences in drug effectiveness and toxicity, and it is

believed that genetic information can be used to select drugs or dosages that will

decrease the risk for adverse outcomes from medications (Williams et al., 2006).

Personalized medicine, while impressive in theory, has many, namely financial, hurdles to

jump before it will be standardized. The National Institutes of Health says that
 Miller 12

personalized medicine require[s] attention to psychological issues already encountered

by genetic counselors and physicians, implying that the same psychological

considerations are relevant (Cornetta & Brown, 2013). The NIH supports this claim with

evidence from a study done on Huntingtons disease that revealed only 21 percent of the

75 percent interested in knowing their risk opted to be tested when it became available

(Cornetta & Brown, 2013). Their logic follows that the idea of personalized medicine is

novel and sounds appealing, but the actual utilization of such genetic information may be

overestimated. There are ethical issues with personalized medicine as well, namely

regarding insurance companies. With personalized medicine the entire genome is tested,

giving insurance companies the grounds to require testing before funding treatment

(Cornetta & Brown, 2013). Such requirements would be both a violation of personal

preference for knowledge, as well as privacy as all medical information is, ethically,

confidential.

The growing concern, both in the medical and larger community, is the power that

genetic testing really holds. People are worried about discrimination against disabilities

and sex via prenatal genetic testing, and that selective breeding will become common

practice (Ethics of Genetic Testing, 2011). Eugenics has been a real issue in the past

and there is rising alarm that it will continue to prevail in society as genetic testing makes

it easier to conduct.

Conclusion
 Miller 13

The National Human Genome Research Institute has put together a collective

effort to discuss these modern complications that have arisen with genetic testing. They

say, as genetic tests become more widely available, some even through direct-to-

consumer distributors, concern is growing about their misuse (Ethics of Genetic

Testing, 2011). The discussion has begun about the safe and practical use of genetic

testing; it is imperative that the discussion continues to develop and unlock the

psychological and ethical issues at hand.

There was a time in the not-so-distant past when genetic testing was a novel, new

idea. It was the stuff of science fiction; the idea that an individuals genome could be

mapped from a visit to the doctors office was unimaginable. Today, in such a different

world, its a test that can be taken at home. In 2003 The Human Genome Project, aimed

at identifying all of the genes and loci in the human genome, was successfully completed.

Such advances in knowledge have allowed medicine to progress greatly, including the

expanded role of genetic testing. Some scientists believe we are headed for a world of

personalized medicine where genetics will play a far greater role in every aspect of

medicine, while others are concerned of how testing reflects discrimination. As for now,

genetics is still simply an identification and prevention tool, a tool, however, that comes

with great responsibility. The psychological and ethical impacts of such information are

substantial, and are amplified within the pediatric population as well as in the modern

complications that face the field of genetics. Genetic testing needs to be treated with

cautionas long as there is an understanding of the risks that are associated with results,

testing can be viewed as a valuable medical resource.

References
 Miller 14

Altruism Definition. (2016). Cambridge English Dictionary. Retrieved December, 2016.

Armstrong, K., Weber, B., FitzGerald, G., Hershey, J., Pauly, M., Lemaire, J., et al.
(2003). Life insurance and breast cancer risk assessment: Adverse selection,
genetic testing decisions, and discrimination. American Journal of Medical
Genetics, 120A, 359364.

BBC. (2014). Science: DNA. British Broadcasting Corporation. Retrieved December,

2016.

Cornetta, K., & Brown, C. G. (2013). Perspective: Balancing Personalized Medicine and
Personalized Care. Retrieved December, 2016, from
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3584182/

Crozier, S., Robertson, N., & Dale, M. (2014, September 20). The Psychological Impact
of Predictive Genetic Testing for Huntingtons Disease: A Systematic Review of
the Literature. Journal of Genetic Counseling, 24(1), 29-39. doi:10.1007/s10897-
014-9755-y

Decruyenaere,M., Evers-Kiebooms,G., Boogaerts, A., Cloostermans, T., Cassiman, J.,

Demyttenaere, K., et al. (1997). Non-participation in predictive testing for
Huntington disease: Individual decision-making, personality and avoidant
behavior in the family. European Journal of Human Genetics, 5, 351363.

Ethics of Genetic Testing Being Examined. (2011). Biotechnology Law Report, 30(4),
465-465. doi:10.1089/blr.2011.9840

Farkas A., PhD. (2013, May 32). Addressing Psychological Impacts of Genetic Testing on
Patients, Families. American Psychological Association.Retrieved December 06,
2016.

Gargiulo,M., Lejeune, S., Tanguy, M. L., Lahlou-Lafort, K., Faudet, A., Cohen, D., et al.
(2009). Long-term outcome of presymptomatic testing in Huntington disease.
European Journal of Human Genetics, 17, 165171.

Genetic Testing: How it is Used for Healthcare. (2013, March 29). National Institutes of
Health. Retrieved November 30, 2016.

Hayden, M. R., & Bombard, Y. (2005). Psychosocial effects of predictive testing for
Huntingtons disease. Advances in Neurology, 96, 226239.

Help Me Understand Genetics: Genetic Testing. (2016, November 1). Genetics Home
Reference. Retrieved from U.S. National Library of Medicine.

Joint Committee on Medical Genetics. (2004, October 19). Minutes of the meeting held
at the Royal College of Physicians, London, England.
 Miller 15

Knoppers, B., Strom, C., Clayton, E., Murray, T., Fibison, W., Luther, L., . . . Handelin,
B. (1998). Professional Disclosure of Familial Genetic Information. American
Journal of Human Genetics, The American Society of Human Genetics, 62, 474-
483.

Laberge, A., MD, PhD, & Burke, W., MD, PhD. (2009). AMA Code of Medical Ethics
Opinions on Genetic Testing. AMA Journal of Ethics, 11(9), 683-685.
doi:10.1001/virtualmentor.2009.11.9.code1-0909

Mayo Clinic Staff. (2016). Huntington's Disease Symptoms. Retrieved December, 2016,
from Mayo Clinic.

Penner, P. S. (1995). Altruistic behavior: An inquiry into motivation. Amsterdam: Rodopi.

Ross, L., Saal, H., David, K., & Anderson, R. (2013). Technical report: Ethical and policy
issues in genetic testing and screening of children. Genetics in Medicine, 15(3),
234-245. doi:10.1038/gim.2012.176

Vos, J., Gmez-Garca, E., Oosterwijk, J. C., Menko, F. H., Stoel, R. D., Asperen,
J....Tibben, A. (2010). Opening the psychological black box in genetic
counseling. The psychological impact of DNA testing is predicted by the
counselees' perception, the medical impact by the pathogenic or uninformative
BRCA1/2-result. Psycho-Oncology, 21(1), 29-42. doi:10.1002/pon.1864

Wendelsdorf, K. (2013, October 1). You have a genetic disorder: Should your family be
told they might carry the mutation? Retrieved December, 2016.

Wilfond, B., MD, Pelias, M., PhD, JD, Knoppers, B., PhD, JD, Reilly, P., MD, JD, Wertz,
D., PhD, Billings, P., MD, Farber, D. (1995). Points to Consider: Ethical, Legal,
and Psychosocial Implications of Genetic Testing in Children and Adolescents.
American Journal of Human Genetics, 57, 1233-1241.

Williams, J., Skirton, H., & Masny, A. (2006). Ethics, Policy, and Educational Issues in
Genetic Testing. Journal of Nursing Scholarship, 38(2), 119-125. Retrieved
December, 2016.