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Genetic Screening: A Transforming Science and its Ethical Considerations
Genetic Screening: A Transforming Science and its Ethical Considerations
Shannon Mikrut
Concordia University
Public Health Ethics
MPH 560
Dr. Shalah Watkins-Bailey
22 February 2014
Genetic Screening: A Transforming Science and its Ethical Considerations
Abstract
Genetic screening is an evolving science that has the potential to improve the face of medicine.
The advances brought on by genetic testing are changing the ethical environments of science,
health, healthcare, medicine, and policies. Ultimately, genetic screening will enable health
promotion; expand knowledge and understanding about genetics, disease, and potential
predispositions; and provide an opportunity to cure cancer and other illnesses. The development
and integration of genetic screening into research and assessment, policy, and practice will be a
multi-dimensional challenge throughout the 21st century.
Genetic Screening: A Transforming Science and its Ethical Considerations
Genes and the Development of Genetic Screening
It is no accident that children resemble their parents. Within all of the body’s cells, there are
hereditary genes that hold the information to build and maintain a living organism. All genes together in
an individual’s body is known as their genome. A genome comprises four main types of molecules, or
bases including adenine, thiamine, guanine, and cytosine (Karthikeyan, 1999). These molecules are
arranged in pairs and make up a code known as DNA, or deoxyribonucleic acid, and RNA, or ribonucleic
acid. There are 3 billion base pairs and their order is a complex genetic blueprint that distinguishes each
human being. Genes are the tiny subunits within DNA that carry genetic instructions to make the body’s
proteins. Each human receives a chromosome, or genetic code, from both of their mother and father, and
this is why off-spring resemble their parents.
Genomics is the study of the functions and interactions of all genes in the genome (Thomas,
Irwin, Zuiker, & Millikan, 2005). The Human Genome Project (HGP) was an international research
program that was originally introduced in 1985 and formally started in 1990 (National Human Genome
Research Institute [NHGRI], 2012). The project was established to map out and gain understanding of all
the genes in a human being. The project was successfully completed in 2003, and the entire sequence of
human DNA has been mapped (American Cancer Society, 2003). Defining the sequence of the human
genome has led to a new understanding of the biological processes in inherited and chronic diseases
(Williams, Skirton, & Masny, 2006). The HGP has advanced the understanding of the molecular basis of
disease-causing genes and the characterization of thousands of gene mutations (Rosen, Wallenstein, &
McGovern, 2002). This means, that with genome sequencing obtained through genetic screening, an
individual can know if they have a certain gene mutation, are carriers of a specific disease, or if they are
at risk of passing on an illness or trait to their children.
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Genetic Screening: A Transforming Science and its Ethical Considerations
Genetic Screening Today
Genetic screening is a rapidly advancing and growing science. Currently, there are an array of
genetic tests that are used to identify changes in chromosomes, genes, and proteins. These medical tests
use blood, tissue, hair, or body fluids, such as saliva, to study genotype orientation. Screening is used to
determine the genetic cause of a disease; confirm a suspected diagnosis; predict future illness; look back
at one’s ancestry; detect if a gene mutation will be passed on to an individual’s off-spring; and to better
understand how one will respond to certain types of treatment or medications (NHGRI, 2013). Genetic
testing is available for fetuses, infants, children, and adults.
There are three forms of genetic testing: diagnostic, carrier, and predictive testing. Diagnostic
testing is used to identify current disease states (Fulda & Lykens, 2004). This form of testing can lead to
earlier detection of disease, and in turn, can allow for patients to seek treatment before the onset of severe
symptoms or stages. Prenatal and newborn screening is diagnostic, and is the most common form of
genetic testing (Fulda & Lykens, 2004). Fetal and newborn screening is prevalent in the U.S. and can help
healthcare professionals detect and treat genetic disorders early on.
Carrier testing examines the features of the chromosomes, including their structure, arrangement,
and number. It has been found that chromosomes can be missing, expanded, or even in a different
chromosomal location (NHGRI, 2013). Carrier testing can determine if an individual carriers a certain
genetic trait and whether a genetic disorder is dominant or recessive (Fulda & Lykens, 2004). Carrier
testing is also utilized by couples during the family planning stages to see if any genetic disorders will be
passed on to their off-spring.
The third type of testing, predictive testing, is typically performed on healthy individuals who are
interested in knowing if they have any gene mutations that could lead to a late onset disorder. Predictive
tests are available for conditions such as Huntington’s disease, cystic fibrosis, breast cancer, sickle cell
anemia, Down’s syndrome, and phenylketonuria (Fulda & Lykens, 2004). Predictive testing can also be
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Genetic Screening: A Transforming Science and its Ethical Considerations
used to detect one’s genetic susceptibility to environmental hazards; for example, workers exposed to a
toxic substance in the workplace could use genetic testing to better understand the impact the toxin may
have on their health in the future (Karthikeyan, 1999).
This new and upcoming science has the ability to improve diagnosis, maintenance, and treatment
of chronic illnesses and disease. Genetic tests can be used to predict prognosis in disorders not resulting
from a single mutation (Williams, Skirton, & Masny, 2006). Additionally, an early prognosis can allow
an individuals to take preventative measures to help prevent and/or prolong development of an illness.
Undergoing genetic testing is an individual choice, with the exception of specific newborn screening tests
that are routinely completed in the U.S. Genetic counseling is strongly encouraged for individuals prior to
having their genome sequenced, as testing can produce damaging results. Counseling can help patients
consider all of their options prior to testing, prepare for potential results, and establish a
resource/relationship for patients to access after testing, if they so choose.
Another major feat of genetic screening is the exploratory progress in pharmacogenomics.
Pharmacogenomics is a field that combines the study of drugs with the study of genomics (Genetic Home
Reference, 2014). Medical drugs do not metabolize the same way in each human. Therefore, one drug
may be effective for one person, but not for another. Pharmacogenomics aims to develop safe and
effective medications that can be tailored to each individual and their genetic make-up (Genetic Home
Reference, 2014). This field is still in its beginning stages, but it is projected that advancements in
medication development, with the help of genetic sequencing, will be suited to individual differences in
drug effectiveness and toxicity in the near future (Williams, Skirton, & Masny, 2006).
Genetic screening is, and will continue to change the face of medicine. Richard Resnick, a
genome mapping expert, believes that genome sequencing will lead to cures for illnesses such as cancer
and malaria (National Public Radio, 2013). This won’t mean that people won’t get cancer anymore, but it
does mean that it can be effectively treated. Resnick also explains that the technology for “designing
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Genetic Screening: A Transforming Science and its Ethical Considerations
babies” is available right now (National Public Radio, 2013). Currently, sequencing of a fetus’s whole
genome can be done through a blood draw. This would mean that babies could be “created” in a test tube
with traits chosen specifically for them (National Public Radio, 2013). For example, genes could be
altered so the baby is tall, has blue eyes, and has a stronger back than the baby’s parents. The technology
is there to alter the genes of a fetus; the only question is whether this is something society will allow to
happen.
Limitations of Genetic Screening
Despite the many benefits of genetic screening, there are also risks and limitations. At this time,
genetic testing is relatively expensive and it can take several weeks for test results to be processed
(American Cancer Society, 2013). Conversely, it is likely that with technological advancements that
screening will become more accurate, time sensitive, and cost effective (American Cancer Society, 2013).
Physical risks of genetic testing are fairly limited; a simple blood draw or cheek swab is commonly used
to collect an individual’s DNA for testing. However, prenatal testing procedures can pose a small risk of
miscarriage due to needing to collect a sample of amniotic fluid or tissue from around the fetus (Genetics
Home Reference, 2014). The risk is small and precautionary measures are taken, but there is still a risk. A
limitation of pre-pregnancy and fetal testing is that it can produce undesired options for expecting parents
(Lea, Williams, & Donahue, 2005). Positive test results can create additional considerations for women
and couples, including whether or not to perform more, and sometimes invasive testing; whether to
terminate a pregnancy; or choose to forego having children altogether due to risk of passing on a genetic
trait (Lea, Williams, & Donahue, 2005).
Another limitation of genetic testing is that it does not provide precise answers about an inherited
disease. In other words, testing positive does not always mean that the individual will ever get the disease.
On the other hand, a negative test result does not ensure that a person won’t get the disease. The screening
can tell a person what might happen, but it cannot tell someone what will happen.
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Genetic Screening: A Transforming Science and its Ethical Considerations
The effects of genetic testing can also take the form of psychological or emotional distress.
Learning that you have or might have a serious disease can be frightening. Some patients with positive
test results experience feelings of fear, worry, and anxiousness. Individuals may worry about when their
disease will surface and feel that their life has become a waiting game; others fear of passing mutant
genes to their children; and feel helpless in absence of a cure (McLean, 1998). Adding on, an individual
may experience a false sense of hope, or a false sense of fear due to the tests not being 100% accurate.
The screening method can be flawed, which could produce both false-positive and false-negative results
(American Cancer Society, 2013). Currently, genetic testing is not heavily regulated and different testing
labs may use different techniques of looking for a gene mutation (American Cancer Society, 2013). Due
to varying tests, standards, and human error, it is possible for test results to be interpreted incorrectly by
the test administrator, and therefore cause inaccurate information to be relayed to the patient.
Lastly, a genetic test result may not help the patient; certain diseases and cancers have no cure.
For example, testing can confirm Huntington’s disease, but there is no treatment or cure for the
devastating symptoms (McLean, 1998). Therefore, positive test results for a non-curable condition can
lead to feelings of helplessness, fear, anxiety, anger, etc. Genetic testing of conditions with no treatment
also has the potential to cause stigmatization and discrimination (Lea, Williams, & Donahue, 2005). This
then raises the question of whether or not genetic screening should be done in conditions of which there is
no perceived benefit for the patient.
There are risks and limitations to genetic screening that should be considered by individuals
interested in undergoing genetic testing. Individuals should be fully educated and informed about the
testing process, its potential risks and benefits, and possible limitations, no matter the results. All vested
stakeholders have a civic and inherent duty to protect one another and do no harm. The discipline of
genomics is rapidly evolving. As we move into uncharted territory, it is essential for individuals, the
greater community, scientists, researchers, healthcare professionals, public health officials, insurance
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Genetic Screening: A Transforming Science and its Ethical Considerations
companies, employers, and policy makers to evaluate the implications of the technology and develop
ethical standards that are specific to the field.
Ethical Implications of Genetic Screening
Ethics is a complex, multi-dimensional topic that brings together professionals from a variety of
different disciplines. Ethics are a set of moral principles and values that guide behavior and affect
decisions; ethics is a concern about someone or something other than yourself (BBC, 2014). Moral
principles can take place on an individual and societal level. Ethical standards can deem what is
acceptable behavior in the workplace; what is culturally appropriate in the community; how individuals
interact and treat one another; a patient’s rights and how one should be treated when receiving medical
care; and what laws and policies are implemented.
Genetic discrimination dates back to the early 1900s in the U.S. and has severe moral and ethical
implications (Fulda & Lykens, 2004). At one time, people were involuntarily sterilized because of their
genetic health conditions (Fulda & Lykens, 2004). Policies have been implemented to protect individuals
and the community against such acts; but as the field of health changes, more are necessary. The topic of
genetic screening has created an array of unique, complex ethical questions that need to be addressed and
defined from an ethical standpoint by the many different stakeholders involved.
As genomic technologies are relatively new and rapidly advancing, the application of the
technology in the clinical environment poses vast individual, social, and policy-making dilemmas (Sharp,
Yudell, & Wilson, 2004). To start, patient privacy and confidentiality are of upmost concern. Genetic
testing reveals an individual’s genetic make-up and inherent risk for disease and disability. This
predictive information can be misused and abused. Employers and insurance companies have been known
to deny healthcare coverage or employment based on an individual’s genetic disposition (WHO, 2014). In
1995, the Equal Employment Opportunity Commission (EEOC) established guidelines for individuals to
sue their employer if they thought they had been discriminated against because of predictive testing
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Genetic Screening: A Transforming Science and its Ethical Considerations
(Fulda & Lykens, 2004). Even with the EEOC guidelines, the Burlington Northern Santa Fe Railroad
Company was found guilty in 2002 for genetic discrimination of employees who were genetically tested
and sought medical services for carpal tunnel due to workplace injury (Fulda & Lykens, 2004). Further, in
2006, the Health Insurance Portability and Accountability Act, commonly referred to as HIPAA, was
enacted to prevent insurance companies from denying health care coverage to individuals because of their
genetic predispositions. Despite these efforts, there is still fear and uncertainty around confidentiality and
discrimination. A survey conducted by the National Society of Genetic Counselors Special Interest Group
in Cancer found that 68% of the survey respondents would not submit a bill for genetic testing to their
insurance company and 26% would use an alias for fear of discrimination for themselves and their
children (Fulda & Lykens, 2004).
Public health genetics can be defined as “the application of advances in genetics and molecular
biotechnology to improve public health and prevent disease” (Bernheim, Bonnie, & Nieburg, 2003).
Public health, as a discipline, is concerned with the health of the entire population, rather than the health
of individuals (Childress, Faden, Gaare, Gostin, Kahn, Bonnie, ... Nieburg, 2002). Therefore, impeding on
individual rights is at times justified in the face of public health efforts that seek to protect the greater
community. From a public health standpoint, there are ethical issues around genetic testing, such as,
identifying possible exposures and encouraging testing for communicable diseases that are deemed
reportable conditions (Fulda & Lykens, 2004).
Adding on, healthcare professionals face questions around informed consent, individual
autonomy, disclosure of results, and upholding the code of do-no-harm. Should a family member be
notified if they too may be a carrier of genetic mutation and are at risk? Should testing be done when
there is risk for psychological harm to be caused if there are no treatments or cures for the disease tested?
Should nurses and doctors discuss the results with their patients if they have not been adequately trained
to answer questions about genetic testing; on how to counsel and provide support for those who receive
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Genetic Screening: A Transforming Science and its Ethical Considerations
positive test results; and are not fully aware of available resources, such as genetic counselors? All of
these ethical questions need to be considered, so that patients have the information and resources they
need; that their rights and privacy are protected; and that patients are not stigmatized and discriminated
against.
Another ethical dilemma is that not all genetic screening is done in the presence of medical
professionals. There are direct-to-consumer personal genome tests (DTC-PGT) that are marketed by
companies directly to the public. In DTC-PGT the consumer receives a test kit through the mail, takes a
sample of their DNA using a swab to the inside of their cheek, and then mails the swab directly to the
company’s laboratory (Samuel, Jordens, & Kerridge, 2010). Results of the screening are accessed online
and can be shared with both family and friends. These tests are not federally regulated and there is
currently no way to measure the validity of the test (Samuel, Jordens, & Kerridge, 2010). Many of the
companies do not offer counseling support, which is unfortunate due to the unknown validity of these
tests and potential for consumers to not fully understand the implications of the results. Additionally,
since there are no regulations, the private companies marketing DTC-PGT may mislead or provide
inaccurate information. Issues of privacy and confidentiality are of great concern due to the possibility
that the genetic information is not adequately maintained and secured by the testing company (Samuel,
Jordens, & Kerridge, 2010). It is also possible that the consumer submitted another person’s DNA
without their knowing or consent; this too could be a breach in privacy.
The technology and growing possibilities of genetic testing pose ethical dilemmas that have not
technically happened yet. Pre-natal screening could lead to altering genetics before a person is even born.
This could change the way humans have babies (National Public Radio, 2013). Regulations and standards
need to be established to ensure that people are thoroughly educated on the subject; that they are receiving
accurate and consistent test results when undergoing testing; access to adequate resources; and emotional
and medical support. The ethical lines of genetic testing are blurry and the future of what is to come from
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Genetic Screening: A Transforming Science and its Ethical Considerations
this technology is uncertain. Ethical policies are going to be essential in un-blurring the lines and guiding
moral decisions that are in the best interest of the individual and the community.
Conclusion
Genetic screening is an advancing science that has the potential to change the future of health and
medicine. Mapping out the entire sequence of human DNA has expanded our knowledge and
understanding of genetics, disease, mutations, and drug treatment. Sequencing can provide an opportunity
to cure cancer and diseases; to develop medications tailored to an individual; and enrich and lengthen
people’s lives (National Public Radio, 2013). Yet, despite the many benefits and opportunities presented
through advances in genetic screening, it is crucial to understand, consider, and address the limitations,
risks, consequences and ethical dilemmas so that processes can be improved upon.
This author recommends that efforts be made immediately to develop ethical guidelines and
genomic policies with consideration to all stakeholders. Further, scientific research and studies should be
performed to provide scientific and epidemiological data. This data can help guide policymakers and
ethical professionals in considering the various aspects of genetic screening and its implications. Adding
on, the data can be used to assist in the development of federally regulated standard test processes.
“Policymakers must be aware of the opportunity to improve consumer protection, to monitor the
implications of genomics for health, social, and environmental policy goals and to assure that genomic
advances will be tailored not only to treat medical condition, but also to prevent disease and improve
health” (Brand, Brand, & Schulte, 2008, p. 9).
It is imperative that both individuals and society are protected from unethical treatment and
misuse of genetic information by other entities. This author suggests that along with creating ethical
guidelines, that adequate training should be provided to all health and medical professionals. Doctors and
nurses are on the front-line in many clinical situations, and they need to be prepared in providing
educational information to patients interested in genetic testing; referrals and resources to genetic
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Genetic Screening: A Transforming Science and its Ethical Considerations
counseling be offered to patients; and should be trained in how to understand and manage the
psychological and emotional feelings that patients may experience during the entire genetic screening
process. It should be made mandatory procedure that genetic counseling is offered to an individual prior
to genetic testing and that human rights are maintained at all costs.
Finally, it is central that public health be achieved. Individuals and communities need to feel safe,
respected, and heard. Costs and benefits to the health of individuals and the community need to be
analyzed prior to the decision making process. This author suggests that ethical standards and policies be
developed and implemented as soon as possible; that continued monitoring and assessment of new
genetic advances continues; and that the health of the community is preserved and protected.
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Genetic Screening: A Transforming Science and its Ethical Considerations
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Genetic Screening: A Transforming Science and its Ethical Considerations
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