Ethical Issues Genome Sequencing Newborns

Info: 7756 words (31 pages) Dissertation
Published: 9th Dec 2019

Tagged: Medical

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Genome Sequencing

Every individual develops from a set of 23 chromosomes that contributes to their genome. This genetic material forms the foundation for millions of characteristics ranging from the shape of your hairline to your resilience to stressful situations. Throughout the years, science fiction writers have contemplated the possibility of modifying humans in an attempt to obtain perfection. Current advances in scientific research allow this once idealistic notion to become more of a reality. With a sample of ones genome, scientists are able to sequence and map an individual’s unique genome. Using this information can help determine what disease one is at higher risk for.

This ability to screen for potential risk factors can play a crucial role for newborns. Parents may have the option to not only screen for these risk factors but also modify and genetically enhance their newborns. Genome sequencing testing in newborns raises several ethical questions and potential negative outcomes. Genome sequencing testing in newborns should not be allowed because it can result in false alarms, discrimination, and modification of genes that are not understood in their wholeness. The purpose of this paper is to explain the disadvantages of genome sequencing in newborns by utilizing ethical theory, ethical principles, faith integration and values to nursing

Understanding Genetics, Genes, Deoxyribonucleic Acid, & Human Genome

Humans are made from trillions of cells. Each cell develops to have different functions; from the color of the hair to the way nerve signals are sent to the brain. Inside the cell there is a nucleus that contains the human genome. The human genome is organized into 23-paired chromosomes. Each chromosome is made up of tightly coiled up genetic information called DNA or deoxyribonucleic acid. Everyone has different DNA, which makes every individual unique. DNA contains millions of pairs of bases or nucleotides. These nucleotides are arranged in RNA molecules into two longs strands and form base pairs to create a spiral shape called a double helix. These base pairs create genetic codes that serve as the genetic instructions for growth, development, and function. “There are 23,000 protein coding genes in the human genome” (Copstead & Banasik, 2013, p.34). The codes determine the color of the eyes, the height of an individual, and even if an individual might inquire a disease. It is known that this double helix protein creates 6 million base pairs (Copstead & Banasik, 2013).

Many decades ago, very little was known about the genetic factor that contributed to human disease. The two scientists who discovered the structure of DNA were James Watson and Francis Crick. According to the British Broadcasting Corporation (BBC) in 1953 the scientists explained “how DNA replicates and how heredity information is coded” (2014, para. 4). After this information was shared, many questions started to rise and opened many doors for research. During 1992 to 1998, James Watson directed the Human Genome Project at the American National Institutes of Health (BBC, 2014). The Human Genome Project was “an international research effort to sequence and map all the genes (National Human Genome Research Institute, 2000). This research effort to sequence and map all the genes created ethical and values conflict.

The Human Genome Project

The Human Genome Project (HGP) was initially incorporated with a research program whose purpose was to completely map and better understand the genes that make up human beings. According to Oak Ridge National Laboratory, the HGP was completed in 2003, this was a “13- year project coordinated by the United States Department of Energy (DOE) and the National Institutes of Health” (2016, para. 1). The project’s goals was to identify an average of 20,500 genes in human DNA, determine the sequences of the three billion chemical base pairs that make up human DNA, and address the ethical, legal and social issues (ELSI) that might rise from the project (Oak Ridge National Laboratory, 2016).

The ELSI is a program that was founded in 1990 (U.S. National Library of Medicine, 2017). The main purpose of the ELSI program was to discover the various ways genomic research would affect individuals and society. This program focused on psychosocial, ethical, legal, public policy, and broader societal issues. Genomic research including Human DNA sequence and genetic variation are closely tied with several complex issues that it is essential to investigate and obtain a better understanding of these issues. Understanding these issues allows us to weigh between the pros and cons and decide in what direction genomic research should move. Specifically, it is important to examine if advances in genomic research should allow for the implementation of whole genome sequencing into routine newborn screening.

Newborn Screening

Newborn screening (NBS) began in the 1960s and since then, millions of children have been tested annually in an effort to identify medical conditions that result in severe impairment. Currently, state run health programs do newborn screening. Each state is responsible for deciding how these programs are structured and run. This means that there is variation in newborn screening between states including variation in the number of diagnosed disorders. During 1995 and 2005, advances in screening occurred with the use of tandem mass spectrometry (MS/MS) testing technology (Tarini & Goldenberg, 2012). This testing technology measures molecular fragments and allows for the screening of multiple medical disorders with only the use of a small amount of blood from the baby’s heel (Tarini & Goldenberg, 2012). MS/MS significantly increased the amount of disorder detected, which resulted in further variation between states. In an effort to combat these variations, the Maternal and Child Health Bureau required a review of all the available evidence on screening in an effort to create a uniform screening panel for all states (Tarini & Goldenberg, 2012). Currently, every state mandates the screening of 29 core conditions including phenylketonuria, galactosaemia, and cystic fibrosis. The screening of these conditions are justified based on the idea that the information obtained will be used to benefit the child. Currently, newborn screening tests for conditions where rapid diagnosis and early intervention are crucial. Recent developments in technology, allow for the whole newborn genome to be sequenced. Although, whole genome sequencing promises several beneficiary clinical applications; it is essential to explore all the challenges it may raise.

Advantages of Whole Genome Sequencing in Newborns

Genetic sequencing in newborns has the potential to bring great health benefits. With the success of the Human Genome Project and technological advances in genome sequencing it is more possible than ever before to assess the risk for a disease from genotype. Ideally, genetic sequencing would allow for the prediction and prevention of several potential diseases through identification of causative genetic markers. Early identification can result in early initiation of treatment and overall reduction of health damages. Specifically, genomic sequencing approaches in newborns can have promising results in detecting hearing loss. According to Berg & Powell, “50 % of prelingual deafness has a genetic etiology” (2015, p. ). In other words, there are specific autosomal recessive, autosomal dominant and mitochondrial genes that result in hearing loss. Genomic sequencing can result in detection of these genes and implementation of early intervention that can improve language, cognitive, and social skills. Currently, there are several serious and treatable childhood conditions that are not currently screened for due to lack of an effective test. Many of these illnesses have a genetic etiology with causative genes identified and therefore can be identified through whole genome sequencing (Berg & Powell, 2015). There are illnesses such as Fabry disease, Wilson disease and Creatine Deficiency Syndromes that are not currently part of the standard newborn screening that could be detected with sequencing (Berg & Powell, 2015).

Whole genome sequencing can be a very beneficial tool when the test is conducted to specifically diagnose a disease or find potential therapies. There are cases where a newborn or child presents with symptoms of an illness but no definitive diagnosis can be made. A clinician can order a multitude of tests including karyotypes, fluorescence in situ hybridization or chromosomal microarray analysis (Wade, Tarini, & Wilfond, 2013). These tests are able to find significant insertions, deletions, or rearrangements in the child’s DNA (Wade, Tarini, & Wilfond, 2013). When all these tests fail to find an accurate diagnosis, whole genome sequencing offers more refined data. According to estimates, high- quality whole genome sequencing has excellent accuracy when it comes to identifying an individual base pair, near 100 % (Wade, Tarini & Wilfond, 2013). This suggests that whole genome sequencing can reveal new and rare mutations that can clarify the causes of a child’s condition (Wade, Tarini & Wilfond, 2013).

Ethical Theory and Ethical Principles

Ethics is what an individual believes that is good or bad. Ethics is the study “of social morality and philosophical reflection about society’s norms and practices” (Burkhardht & Nathaniel, 2014, p.35). There are different ethical theories. Deontology is an ethical theory that can be used for the advantages of genome sequencing in newborns.

Deontology According to Burkhardht & Nathaniel deontology theory means “based upon the rationalist view that the rightness or wrongness of an act depends upon the nature of the act, rather than its consequences” (2014). Performing genomic sequence testing can provide information to the parents about potential diseases that can cause their child to have disabilities and eventually even result in death. The parents need to decide if they want to perform the testing and have the information available. One of the consequences of genomic sequencing is obtaining information about specific genes and risk factors that could develop into a devastating disease. According to the deontology theory, these consequences alone to not justify the rightness of performing genomic sequencing and the nature of the act itself must be examined. The nature of genomic sequencing is done when the parents given consent for the newborn to be tested. Many parents give consent in an attempt to protect their child from any suffer and harm. In addition, the nature of the act of genetic sequencing is right because it does not directly cause any harm. The test itself is noninvasive and can be performed quickly without causing much harm to the child. Ethical theories are important because it allows individuals to respect others opinions. Ethical principles and theories need to be used interchangeable.

Truthfulness. When educating parents about the benefits of genome sequencing testing it is important to be truthful to the parents of the newborn. According to Burkhardht & Nathaniel, there are human rights that need to be respected and one of these is obtaining truthfulness. The health care providers need to be honest and describe the research process and explain the benefits and risks. The parents need to be notified of risk that the child might encounter when having genome sequencing testing done. The parents need to understand the genome sequencing is still complex and some information provided in the genome sequencing is still not well developed. As healthcare providers, it is important to be truthful about the cost of genome sequencing. It is known that genome sequencing is still a luxury for some people because they might not afford the cost. Parents need to be respected if they desire genome sequencing for their newborn.

Respect of Autonomy. Respecting of Autonomy “ denotes the ethical obligation to honor the autonomy of other persons” (Burkhardht & Nathaniel, 2014, p. 59) . The individual needs to have the ability to make decisions that will affect one’s life and needs to be respected from others. Parents need to have a clear understanding of the potential diseases that their child may face. As a health care provider, it is important to respect the decision of the parents. All parents need to be treated equally, regardless of whether or not they choose to have genomic sequencing performed on their newborn. The parents need to be knowledgeable and capable of making decisions for their child. When making this decision, parents need to understand the outcomes and risks.

Disadvantages of Whole Genome Sequencing in Newborns

Although neonatal genetic sequencing has the potential to save lives, there are several pending questions and challenges. These challenges bring forth many ethical and social concerns, which suggest that genome sequencing in newborns is actually more harmful than useful. Whole genome sequencing can result in false alarms regarding carrier status, false positives, indeterminate results, and over diagnosing. Additionally, whole genome sequencing can result in lack of adequate long-term follow up. Newborns who receive a positive diagnosis for a devastating illness may face several negative consequences including discrimination from health insurance and future employers. Newborns and families may also suffer from psychological harm due to increased stress and anxiety. Whole genome sequencing may open the door for genetic modification, which might cause more harm than good.

False alarms. One of the biggest issues with whole genome sequencing in children is that it can potentially result in unnecessary anxiety and worry through various false alarms. Whole genome sequencing in newborns can reveal if the child is a carrier for a certain disease. Carrier status means that the individual has specific genes that could be passed along to future generations but whom are not themselves suffering from a condition. Labeling newborns as carriers can result in several negative consequences. During the 1980s, there was mandatory screening for sickle cell disease (Tarini & Goldenberg, 2012). This screening labeled many newborns as carriers for sickle cell. The problem was that several parents were not educated properly and could not differentiate between their child carrying the sickle cell trait and actually having sickle cell disease (Tarini & Goldenberg, 2012). As a result, parents worried about the suffering their child would have as they grew up. Whole genome sequencing has the potential to reveal carrier status for a multitude of new diseases. This carrier information can have adverse affects on the way children are identified. Carrier information can change the way children are regarded within the family. Carrier information can also be an issue for children when they reach an age where they start to consider having a family of their own.

In addition to harmful carrier information, there is always a possibility for false positives. This means that the test is wrong and gives incorrect information. Imagine that a baby is told they will have a detrimental and highly maleficent disease but never develops any clinical symptoms. This creates so much anxiety and increased levels of stress for parents. Studies on parents who received false-positive results for congenital hypothyroidism had continuous psychological distress and high levels of lingering anxiety (Tarini & Goldenberg, 2012). Although, supporters of whole genome sequencing state that it has excellent accuracy. There are over 6 billion base pairs in a human genome. If an accuracy of 99.9 % is assumed, whole genome sequencing in one individual can result in approximately 6 million incorrect base pairs. This means that there is a very high probability that the person tested will receive one or more false positive results (Wade, Tarini & Wilfond, 2013). This suggests the whole genome sequencing will inevitably result in psychological distress for both the parents and the individual tested.

Whole genome sequencing can also yield indeterminate results that could cause more harm than good. Current newborn screening tests have results that are neither normal nor abnormal. These results classify children as “diagnostic dilemmas”. The problem with these “diagnostic dilemmas” is that for certain diseases the treatment could potentially be as harmful as the diagnosis (Tarini & Goldenberg, 2012). One example of a “diagnostic dilemma” is Krabbe disease. According to Cafasso, Krabbe disease is “a rare disease and usually deadly disorder of the nervous system” (2016). Krabbe is an inherited disease that can degenerate the nervous system causing many impairments in a child. People with Krabbe disease “ are not able to create enough of a substance called galactosylceramidase, which is needed to make myelin”(Cafasso, 2012). The lack of this enzyme can cause the body and brain to not work properly and even result in death. Krabbe disease is diagnosed by identifying low GALC activity and having mutations to the GALC gene (Tarini & Goldenberg, 2012). The problem with the positive screening for Krabbe disease is that many times this disease does not develop any clinical symptoms. The treatment for Krabbe disease is an allogeneic hematopoietic stem cell transplant. It would be unethical to have a young child undergo an extreme procedure like immediate bone marrow transplant if there is a possibility they will never actually develop any clinical symptoms. After a child tests positive for Krabbe disease, they must be followed throughout their life and closely observed for any symptoms. Parents have to deal with a great amount of stress as they cope with the possibility that their child might become detrimentally sick. Whole genome sequencing sequences over 6 billion base pairs; this increases the probability of finding mutations of unknown clinical significance. Such results suggest that the dilemma of indeterminate results will be much more common.

There can also be the possibility of over diagnosing. Genome screening only shows the genotype but does not develop phenotype so there might not be any real symptoms. Genome screening identifies certain base changes, insertions, deletions, or mutations that can be associated with a disease. However, it is possible for two children to have the same genotype and one develops the disease and the other does not. In this case, one of the children is over diagnosed. While providing information about the genome sequencing results not only provides parents with false alarms but also confuses them about the disorders that their child may develop. Parents might not be knowledgeable about how the genome sequencing tests functions. Furthermore, this can also cause problems for practitioners. When a practitioner is faced with an asymptomatic child who has the genotype for a detrimental disease, that clinician might feel inclined to treat the patient even though nothing is inherently wrong with them. Whole genome sequencing will certainly further complicate this issue of over diagnosing.

Lack of Long Term Follow- Up. A variety of false alarms are closely intertwined with the application of whole genome sequencing into newborn screening. The adoption of whole genome sequencing presents several major workforce challenges in order to alleviate some of these false alarms. Currently, primary care pediatric providers are not knowledgeable enough to tackle the questions that come with genetic sequencing. Genetic sequencing will inevitably result in a dramatic increase in genetic information and incidental findings. Specialists will have the added task of figuring out this information and effectively communicating this information with others. According to Wade, Tarini and Wilfond, there will be an increase preference in primary care physicians referring cases to genetic specialist (2013). The problem with this is that there is currently a shortage in medical geneticists. This means that several issues regarding carrier status, false positives, and indeterminate results will remain largely unsolved.

In order for genetic sequencing to be successful in newborn screening there needs to be effective communication of results and adequate follow-up care. Currently, newborns undergo mandatory screening. Although screening is mandatory, education is not. According to Tarini and Goldenberg, it is widely understood that parents are extremely undereducated about newborn screening (2012). Although genetic sequencing will provide a lot of genetic information, this genetic information is useless if it cannot be communicated in an effective and sensitive manner. This lack of appropriate communication can result in several issues including confusion, unnecessary anxiety, stress, and inadequate medical care. In addition to lack of follow up communication, there will also be a lack of follow up care. Expanding newborn screening to include genetic sequencing would also mean expansion of necessary testing and treatment resources. Genetic sequencing will result in incidental and novel findings where new research will need to be developed. Mostly likely it will be difficult for families to find appropriate health care coverage to cover the expenses. Without affordable treatment, many children will be diagnosed but not properly taken care of and treated. Lack of treatment raises several ethical concerns including the psychological harm to the child and family.

Discrimination Genetic discrimination can occur when there is possibility of acquiring a disease due to changes in the DNA causing health insurer and employer to act unfair. There are many disorders that a child can be predisposed to and might inherit such as Diabetes Mellitus, Alzheimer’s, Cystic Fibrosis, Breast Cancer or Huntington’s disease. Carrying a specific gene or mutation does not necessarily guarantee that a disorder will develop but there is a high probability that it might. Insurance companies focus on the chances and if there is a chance a child might develop a costly disorder, it is less likely that the child will be able to obtain appropriate health coverage. With genetic sequencing, it is possible for insurance companies to require testing and either refuse health care coverage, decrease benefits, or increase premiums (Fulda & Lykens, 2005). School, work, and insurance companies can take actions that can affect the diagnosed child mentally, physically, emotionally, and spiritually. Having the results of the genomic sequencing results in limitations. For instance, a child that might be carrying the gene of Cystic Fibrosis. According to Hockenberry & Wilson (2013), it is an autosomal recessive genetic disorder, inherited, and defective gene is found on chromosome 7. This disorder affects the lung and the pancreas. The patient presents malnourished, with excessive secretions, and bowel obstruction. The patient has a greater possibility of developing diabetes mellitus due to pancreatic function. The patient might need a great amount of treatments causing insurance to expend more money because of the long-term treatment such as oral enzymes, antibiotics, and steroids. This an example why insurance companies will not want to take a patient with Cystic Fibrosis because medical needs are in high demand (Hockenberry & Wilson 2013, pp. 747-752). The chances that genetic sequencing will result in discrimination by insurance companies are really high. There is simply a limit in funding and there will be a lack of appropriate treatment.

Having to live under loom of developing a disease can be frustrating and scary. Having to present a report that can be misinterpreted because of the lack of knowledge can be devastating. An employer might be able to make a decision on whether to hire or fire an employee after reviewing the DNA report. For example, a child might be able to have a specific gene that predisposes them to cardiac problems. In the future if this child tries to obtain a job that requires an extra amount of physical and mental effort, high stress, and increase pressure. This gene might serve as a red flag to an employer and result in employment discrimination due to the future liability that could cost the company. Even though, the employee appears to be healthy and with good physical appearance the employer might not hire because of the possibility of developing a heart disorder.

Even though, genetic screening has good intentions to possibly help alleviate a variety of health conditions; there is a possibility it will cause irreversible harm through discrimination.

Modifications on Genes As time evolves, new technology is invented and new discoveries are being used and making the impossible more available to the public. Genetic sequencing and identification of genes and mutations is the first step. It soon may be possible to take this step forward and not only identify but also modify these genes and mutations in an effort to resolve the issue. Being able to modify the gene of a newborn even before being born can create many ethical and medical dilemmas. Having the opportunity for parents to choose if a newborn should be tested for the whole genome sequencing can become controversial. The ability for technology to identify if a newborn carries a gene that was passed on from one or both parents can be modified and stop the possibility of passing it onto a new generation, but this great invention can create many complications. Genes work together in a multitude of complicated relationships. Relationships those are not fully understood in their entirety. Modifying a specific gene or mutation that is not fully understood in an effort to resolve and illness might actually create greater complications.

Ethical Theory

Genome sequencing in newborns raise ethical issues. Being able to modify whole genome sequencing can become controversial because technology is playing God and the disadvantages of contradicting the moral concept of right or wrong. Some individuals are still not ready to get the whole genome sequencing of the newborn. The ethical theory that is associated with genome sequencing is utilitarianism.

Utilitarianism According to Burkhardht & Nathaniel utilitarianism is “is the moral theory that holds that an action can be considered good or bad in relation to its end result” (2014). Genome sequencing actions are not good because it can increase the levels of stress and anxiety for the child and the parents. Having to live their entire life knowing that they might develop a disease that might be terminal or not treatable can become overwhelming. The results of genome sequencing can develop more disadvantages than advantages in the long run. Health insurance is very importance. It is very possible that a newborn can be rejected from receiving health insurance after they are diagnosed with a costly disease. As health care providers it is important to acknowledge if moral concepts of right or wrong are being respected. By not allowing genome sequencing in newborns, the greater number will benefit from this decision. The parents and child will benefit from not allowing performing this test at such an early age.

Ethical Principles

Genome sequencing in newborns is a very controversial and an unethical decision. As a health care provider it is important to take under consideration personal values, cultural norms, and moral development in the parent’s decisions. There are ethical principles and theories that can make the decision for the newborn more respectful and morally accepted. Even though the newborn does not have the ability to make their own decision until they are adults it does not justify the actions of the guardians. There are ethical principles that can be associated with genome sequencing such as justice, beneficence, and nonmaleficence. According to Burkhardt & Nathaniel, ethical principles guide decision makers on what is good and provide guidance on ethical dilemmas.

Justice. According to Burkhardt & Nathaniel justice relates to fair and appropriate treatment (2014, p.81). The newborn needs to have the right to be treated with dignity and respect. Newborn do not have the capacity to make their own decisions. It is important to know if the newborn will want to know about their genome sequencing. Genome sequencing can unlock mysteries and put privacy, self-esteem, and equality in danger. Genome sequencing should be allowed because individuals have the possibility of being treated unequally.

Beneficence. As a guardian of a newborn, it is important to make good decisions that will not affect the living of the newborn in a long run. Parents need to think about the outcome that genome sequencing can have on their children. According to Burkhardt & Nathaniel, beneficence is doing good (2014). It is important to promote good and prevent harm. During this genome sequencing parents needs to be aware of the harm that can be done to their children. If a child is going to be discriminated against and suffer from increased stress about their health, it should not be done because it promotes harm to the child.

Non-maleficence. Non-maleficence refers to avoid causing harm. Genome sequencing can cause harm to a newborn when trying to do good such as getting detrimental results from the genome sequencing. Obtaining results of genome sequencing can give false alarms, discrimination, and distress over the results of potential diseases. These results can affect them when they are trying to get health insurance. This does not avoid harm, as the newborn needs to deal with the embarrassment of being denied health insurance.

Faith Integration

Religion and spirituality can have disagreements over genome sequencing in newborns. The word of God needs to be respected and taken under consideration. In The New Oxford Annotated Bible (NOAB) there is not a specific part where it states that genome sequencing is good or bad but does state under Genesis 1:27 “so God created humankind in his image, in the image of God he created them” (2010). For instance, having the advantages of considering genome sequencing during birth and having the results that an individual can carry a gene that has the potential of developing a disease can be stressful. This evaluation soon might have the ability to modify a gene that may cause changes in an individual’s body during birth or in the future. In this situation, there is the possibility of having the curiosity of modifying the gene so no discrimination, illnesses, or stress can interact with their lifestyle even though in the Bible it is stated that God created the individual.

Technology and advancement in science now in day allows genome sequencing in a newborn. Science should not be allowed to play God. According to Oxford Living Dictionaries play God means “ behave as if all-powerful” (2017). Having the ability to re-engineer, alter, and advance ones features can create dilemma in religion. For instance, genome sequencing can change the practice of newborn screenings and find out genes that are still not recognized. Changing medicine practices can conflict with religion beliefs, because science is trying to perfect the genome of an individual. In Ecclesiastes 7:13 states, “Consider the work of God;  who can make straight what he has made crooked?  ” (NOAB, 2010). Science does have the ability to modify genes but no man can have the full potential to modify God’s creation. It is known that there are still genes and mutations that are not entirely understood which does not allow being more powerful than what God created.

Furthermore, as genome-sequencing modifications can be a controversial topic nurses and health care providers need to assess spirituality in the parents that are considering genome sequencing.

Values in Nursing

The Nurse Practice Act

Board of Registered Nursing

The Joint Commission

The Code of Ethics of Nurses

Conclusion

References

Berg, J. & Powell, C.M. (2015) Potential uses and inherent challenges of using genome-scale sequencing to augment current newborn screening. Cold spring harbor perspectives in medicine.doi: 10.1101/cshperspect.a023150.

British Broadcasting Corporation (2014). Crick and Watson. Retrieved from

http://www.bbc.co.uk/history/historic_figures/crick_and_watson.shtml

Cafasso, J. (2016). Krabbe disease. Healthline. Retrieved from http://www.healthline.com/health/krabbe-disease#overview1

Coogan, Micheal D., Editor. (2010) The new oxford annotated bible: New revised standard version with the apocrypha, 4^th Edition. New York: Oxford University Press, 2010. ISBN 978-0-19-528959-6

Copstead, L.C. & Banasik, J.L. (2013). Pathophysiology (5^th ed.). St. Louis, MO: Elsevier.

Fulda, K.G. & Lykens, K. (2006). Ethical issues in predictive genetic testing: a public health perspective. Journal of medical ethics, 32(3): 143-147. doi:10.1136/jme.2004.010272.

Goldenberg, A.J., Dodson, D.S., Davis, M.M., & Tarini, B.A. (2014). Parents’ interest in whole genome sequencing of newborns. Genetics in medicine: Official journal of the American college of medical, 16 (1), 78-84. doi:10.1038/gim.2013.76.

Hockenberry M & Wilson, D., (2013) Wong’s essentials of pediatric nursing (9^th ed.). St. Louis, MO: Elsevier.

Joseph, G., Chen, F., Harris-Wai, J., Puck, J.M., Young, C., & Koenig, B.A. (2016). Parental views on expanded newborn screening using whole-genome sequencing. Pediatrics, 137 (1), S36-S46. doi: 10.1542/peds.2015-3731H

National Human Genome Research Institute (2000). All about the human genome project. Retrieved from https://www.genome.gov/10001772/all-about-the–human-genome- project-hgp/

Oak Ridge National Laboratory (2016). Human genome project. Retrieved from http://web.ornl.gov/sci/techresources/Human_Genome/index.shtml

Oxford living dictionaries (2017). Play God. Retrieved from https://en.oxforddictionaries.com/definition/play_god

Tarini, B.A. & Goldenberg, A.J.(2012). Ethical issues with newborn screening in the genomics era. Annual review of genomic and human genetics, 13, 381-393. doi: 10.1146/annurev-genom-090711-163741

U.S. National Library of Medicine (2017). What were some of the ethical, legal, and social implications addressed by the human genome project? Retrieved from https://ghr.nlm.nih.gov/primer/hgp/elsi

Wade, C., Tarini, B., & Wilfond, B. (2013). Growing in the genomic era: Implications of whole- genome sequencing of children, families, and pediatric practice. Annual review of genomics and human genetics, 14, 535-555. doi: 10.1146/annurev-genom-091212- 153425.

Annotated Bibliography

This article talks about when newborn screening (NBS) began and current newborn screening information. It gives information on application of DNA sequencing in newborn screening. With given information it is learned that with genes there are always mutations occurring. So as soon as we discover something it will be changed. It is hard to tell if it will be positive or negative changes. This article will help with genome sequencing research because it provides material on benefits and consequences of when genetic sequencing programs are utilized.

Fulda, K.G. & Lykens, K. (2006). Ethical issues in predictive genetic testing: a public health perspective. Journal of medical ethics, 32(3): 143-147. doi:10.1136/jme.2004.010272.

Genetic testing is still a controversial subject that increases a lot of questions in society. This article provides information on how genetic testing might create fear in individuals. Some of the fears that an individual may encounter can be discrimination from insurance companies, employers, and society. This article will discuss the ethical principles such as utilitarian and libertarian in more depth. It also gives a background of genetic discrimination, moral, and ethical implications issues. This article will be helped with genome sequencing research because it provides information on genetic testing and ethical principles. Goldenberg, A.J., Dodson, D.S., Davis, M.M., & Tarini, B.A. (2014). Parents’ interest in whole genome sequencing of newborns. Genetics in medicine: Official journal of the American college of medical, 16 (1), 78-84. doi:10.1038/gim.2013.76.

The purpose of this study was to assess parent’s interest in whole genome sequencing for newborns. The study design was a nationally representative sample of United States population in 2012. This survey was conducted on 1,539 parents and was asked about the fascination on genome sequencing for newborns. The final result was that the parent’s had a high interest in having genome sequencing in newborns. This study will be essential for genome sequencing research because it provides information on parent’s interest and factors that influence fascination.

This article talks about how some parents are offered the option to do whole genome sequencing in addition to the normal screening. There are uncertainties if the whole genome sequencing becomes mandated because it will raise problems. This research compares the standpoint and beliefs of diverse healthy pregnant women and parents that have children with immunodeficiency disorders. There are four categories that have been analyzed. The four categories are perspective on traditional newborn screening (NBS), informed consent, returned of results, storage, and retrieval of results. In this study they conducted four focus groups with socioeconomically and ethically diverse pregnant women. There is information on participant demographic characteristic such as age, race, education, and annual household income. This article will be helpful with genome sequencing research because it provides information on parental views on expanding newborn screening using whole genome sequencing.

Tarini, B.A. & Goldenberg, A.J.(2012). Ethical issues with newborn screening in the genomics era. Annual review of genomic and human genetics, 13, 381-393. doi: 10.1146/annurev-genom-090711-163741

In this article there are communication barriers, parents do not fully understand, and the results that come with genetic testing. Also, the education regarding testing is not very effective, this can be problematic. Genetic testing can give results about genes that are carriers. This means the baby does not have the illness but they could still pass it on in the future. This article will be helpful while gathering information that drive understanding that genome sequencing can lead to discrimination.

This article discusses an important issue on how there is not enough studies demonstrating the effect on children’s psychosocial traits. There are also the issues that children have limited consent. Parents are making decisions based on these results that may not always be beneficial. There is description of the purpose and context of Pediatric Whole Genome Sequencing (P-WGS). These are some examples of types of P-WGS single gene and preventable childhood onset condition, single- gene and non-preventable childhood onset condition, and multi gene and preventable childhood susceptibility. This article will help develop and argue on how whole genome sequencing (WGS) will affect children growing up with WGS “result guiding their health care” (Wade, Tarini, & Wilfond, 2013).

Outline

I. Introduction

A. Thesis statement- Genome sequencing testing in newborns should not be allowed because it can result in false alarms, discrimination, and modification of genes that are not understood in their wholeness.

B. Purpose statement- the purpose of this paper is to explain the disadvantages of genome sequencing in newborns by utilizing ethical theory, ethical principles, faith and values to nursing.

II. Understanding Genetics, Genes, Deoxyribonucleic Acid, & Human Genome

III. The Human Genome Project