Unlocking and Unleashing all Genomes: Is this even up to you?
By Emma Littlejohn
Imagine a world where your whole existence and what people viewed you as was entirely based on your genome. Even though, you did not ask to find out things such as your probability to obtain a certain disease in the future: this decision was made for you and now you are forced to live it. If today’s newborn screening system is expanded so that a child’s full genome is sequenced at birth, a whole new string of information would be accessible about the child’s future in this world. It is possible that no information would be held back, including the probability of late onset diseases. If given the option, a child might not have wanted to gain knowledge of that, or might have wanted to learn it when she was older and perhaps opted to keep the information from her parents. On the other hand, finding out at birth means, the parents help their child prepare financially and mentally for the procedures that will need to occur in their future, instead of being blindsided by this type of news. That is, the child’s autonomy to make the decision for oneself about whether to be tested and when, can conflict with the benefit to the family of being able to discover more about themselves and how to help their child. Furthermore, sequencing the genomes of newborn babies could have social implications relating to privacy and justice in a person’s employment, insurance and everyday relationships. Is there a solution to learning more about one’s child without interfering with that child’s freedom to make their own decisions about what they would like to know and not know?
Table of Contents
- Current United States System
- Genome Sequencing
- Ethical Consideration #1: Child’s Right Not to Know
- Ethical Consideration #2: Family’s Right to Know
- Ethical Consideration #3: Implications on Society
- Modern Applications
Imagine a world where your whole existence and what people viewed you as was entirely based on your genome. Even though, you did not ask to find out things such as your probability to obtain a certain disease in the future: this decision was made for you and now you are forced to live it. This paper will be discussing whether it is ethical or not to expand the current United States newborn screening system to include genome sequencing.
Each year, about four million babies are born in the United States alone. Almost every single one is screened at birth for a certain number of conditions, depending on which state he or she is born in. In America, babies are only screened for conditions that can develop early in their life and are treatable in some way. Restricting testing to treatable, childhood onset conditions means that parents are given information that they can use to access treatments and early intervention services for their child. For example, today parents of a girl born in New Jersey can find out she has homocystinuria. Homocystinuria is a genetic condition where the body cannot break down all types of food properly. It can be treated with a strict diet if detected early enough.
If today’s newborn screening system is expanded so that a child’s full genome is sequenced at birth, a whole new string of information would be accessible about the child’s future in this world. It is possible that no information would be held back, including the probability of late onset diseases. For instance, that same girl’s family could receive news that she has a gene related to a high chance of developing breast cancer when she is an adult. If given the option, that girl might not have wanted to gain knowledge of that, or she might have wanted to learn it when she was older and perhaps opted to keep the information from her parents. If the information is provided to her parents at birth, she will never have the chance to make those choices. On the other hand, finding out at birth means, the parents help their daughter prepare financially and mentally for the procedures that will need to occur in her future, instead of being blindsided by this type of news. That is, her autonomy to make the decision for herself about whether to be tested and when, can conflict with the benefit to her family of being able to discover more about themselves and how to help their daughter. Furthermore, sequencing the genomes of newborn babies could have social implications relating to privacy and justice in a person’s employment, insurance and everyday relationships. Is there a solution to learning more about one’s child without interfering with that child’s freedom to make their own decisions about what they would like to know and not know?
Factual Information: Current United States System
Newborn screening has been evolving since the 1960s. At first, the only test conducted on infants was a PKU (phenylketonuria) test. One of the high points of the expansion was in 2011 when the United States began to screen for 34 conditions while other countries were still far behind this development. For instance, Germany was screening for 12 conditions, the United Kingdom 2 and France as well as Hong Kong still only performed the PKU newborn test. Today, every time that a baby is born in the United States, using a lancet, he or she receives a prick on their heel. Four spots of blood are then dropped onto a blood spot card within their first 24 to 48 hours of life, in order to begin the first steps of carrying out the newborn screening system. Parents are not asked for their consent to this procedure. Newborn screening is a public health program paid for using state funds. It is available to all families regardless of whether or not they have health insurance. The only possible reason for declining is for religious beliefs. (March of Dimes)
Following the prick of the heel, the blood spot card is then sent to a nearby newborn screening lab to undergo testing for that little girl or boy. Genetic screening is the process of measuring the risk for genetic diseases. Screening is not diagnostic; it is about assessing risk. There can be false positives, however, there are no dangers to the mother or the baby, nor costs to the baby’s parents. The baby’s pediatrician will receive the results within five day noting any serious health conditions while the rest of the results are received in seven days.
Depending on which state a child is born in, the number of conditions screened for differs. Although it is recommended by the Advisory Committee on Heritable Disorders in Newborns and Children (HRSA) that all babies are screened for at least 34 disorders, states can screen for more or less. Right now, there are 77 possible conditions to screen for. Massachusetts screens for the most conditions (64) while Kansas screens for the least amount (29). The HRSA divided all the conditions into seven main categories: organic acid metabolism disorders, fatty acid oxidation disorders, amino acid metabolism disorders, hemoglobin disorders, lysosomal storage disorders, adrenal gland disorders and other disorders which incorporates seven disorders. All of the conditions a state is able to screen for are early onset, meaning they are developed early in one’s life and are treatable once diagnosed. There is a high possibility of serious health problems like intellectual disabilities, seizures, vision loss, strokes, organ failure and death that can result if the child is left untreated. Also, if these symptoms begin, in many cases they are irreversible. Parents are given an opportunity to change their babies lifestyle or access treatments and other interventions to save the newborn’s life or improve their health using the knowledge acquired. Treatment can usually begin before symptoms start.
Every day newborns lives are saved due to parents obtaining results from screening at birth. One girl named Danyella was diagnosed with sickle cell anemia through Minnesota’s newborn screening program. The screening displayed a positive for this condition which led her parents to return to the hospital to get genetic testing on Danyella. This genetic testing was diagnostic. Sickle Cell Anemia is one of the hemoglobin disorders that is recommended to be tested for in the current newborn screening system. The condition is more common in certain ethnicities and populations as it affects one out of every 375 African American infants. This disease is caused by the body not making enough healthy red blood cells because some are made crescent or sickle shaped, rather than a round shape. The abnormal shaped cells tend to get stuck in the body’s blood vessels leading to parts of the body not receiving enough blood, meaning not enough oxygen for the body. Sickle cell anemia is an autosomal recessive genetic condition, so parents of the child do not show signs or symptoms of the condition. (Wikipedia)
“I am so glad Newborn Screening tested my blood when I was born.”-Danyella (source: Minnesota Department of Health)
Without this screening, Danyella could have been left untreated causing a shortage of red blood cells, organ damage and death within the first year of birth. Now she is living a healthy life in Minnesota working with her doctor to keep treatment going.
Factual Information: Genome Sequencing
A technology relating to a person’s genome, the complete set of genes present in a cell or organism, is genomic sequencing: the process of determining the entire sequence of a person’s DNA. Today, a person’s full genome can be sequenced for $1,000. Generally, that person must be 18 years old to undergo this process as 18 is the age a person can make medical decisions for themselves. Before that age, medical decisions are in the power of the parent.
A project called BabySeq is starting to sequence some babies’ whole genome soon after their birth if that baby’s parents enroll in the study. In this case, the parents are making the decision to find out an immense amount of detailed information about and for their child, like the child’s probability for many diseases in the future. The BabySeq project is co-led by scientists Robert Green, MD, MPH, of Division of Genetics and Alan H. Beggs at Boston Children’s Hospital. The project is funded by the National Institutes of Health, and participants do not have to pay to be in the study. The study has two objectives: to evaluate the risks and benefits of genome sequencing in newborns with developing evidence to support guidelines for the use of this technology; and, to analyze parent’s thoughts and feelings about genome sequencing as well as how those might change over time. To fulfill the second objective, enrolled parents are asked to fill out four surveys during the first year of their involvement in this project. The questions are about how parents have been feeling, relationships, genetic knowledge, and the utility of the information received. Before this project launched, a survey was given to parents of newborn babies to analyze the interest level of new parents in sequencing of their children. Almost half of people surveyed said they were “very” or “extremely” interested in having their newborn’s genome sequenced, and 37% declared they were “somewhat” interested. However, since the project began offering sequencing to parents of newborns in May 2016 only 7% of more than 2,400 couples approached have agreed to participate. Additionally, the participation rate is around the same for healthy and sick babies: 6.9% for sick babies and 6.6% for healthy babies. The reasons some people give for declining include the following: not wanting to return to the hospital, being overwhelmed already with the birth of the child, privacy issues, troubled by insurance discrimination, and concerns about receiving negative or unclear results. The project encourages those who are interested in being in the study to agree to genetic counseling before deciding for sure whether to participate, and around 70 percent that do the counseling end up later enrolling in the study. (BabySeq)
The project raises many questions, including whether it should serve as a model to be later introduced as a norm in society? Is it fair for this life altering decision to be made for the child by their parents, instead of the child having the choice to enroll into this project? In order to to answer these questions properly, one needs to examine the ethical values that come into play with dilemma.
Ethical Consideration #1: Child’s Right Not to Know
The dilemma of whether or not a newborn should have their genome sequenced brings up the argument that a child has a right not to know their genomic information. The value supporting this idea is respect for persons, which includes respecting the decisions of autonomous persons. Autonomy is a concept known as self rule where an individual has the right to make their own decisions by themselves. Respecting persons is one of the four principles of biomedical ethics. A person is autonomous if they have the capacity to make informed and voluntary decisions. Respecting persons usually requires allowing them to make an informed choice.
The value of respect for persons comes into play when considering whether or not it is ethical to sequence a child’s entire genome sequenced at birth because this decision is being made for the child. That child’s right not to know all of that information, and not to have others know it, is not being taken into account. As the newborn grows up, people around that child will have access to personal information about them that they might not have even wanted to know themselves, let alone have others know. Therefore, that child would be discovering his or her sequenced genome regardless of what their views are on the matter. The current newborn screening system is an exception to this dilemma because it only screens for early onset conditions that are treatable whereas genome sequencing will display untreatable, late onset news.
There are many different reasons people may have for not wanting to know the information on their genome. One reason is some people are concerned they could use their genomic information as an excuse for certain behavior. For example, if they read they have genes associated with antisocial tendencies they could start to behave a certain way because they believe there is no changing this idea about themselves. Furthermore, if a person’s sequenced genome says they have genes associated with violent dispositions, this could lead to others treating that person differently. That person could be treated more harshly in legal courts, or others could begin to “tip toe” around their feelings during everyday life.
Second, anxiety could develop in many people as some discover they are going to or have a risk of developing a certain disease or condition later in life. Anxiety is the most common disorder already in the United States today with around 3.3 million American adults suffering from this condition. (Anxiety and Depression Association of America) Will this be subject to increase if the newborning screening system were to be expanded? Another argument against newborn genome sequencing that goes along with the concern for increasing anxiety, is the idea of ignorance is bliss. Some people argue that if there is no delaying or preventing certain conditions, like Alzheimer’s, why worry about them? As of now, there are many conditions with no treatment available, so gaining awareness will not change the outcome. The director of the Biomedical Ethics program, Dr. Richard Sharp, at the Mayo Clinic in Minnesota, says, “We’re going to have to find the right ways to curb our enthusiasm for genetic testing, and really limit genetic testing only to situations that we have reason to suspect are going to be useful to the patient’s well being. Excessive testing can cause distress…” Also, one’s genome provides an overwhelming amount of information about oneself that they could have uncovered for themselves through experience. Overall, it could lower the chance of people trying new things and taking risks because they can just read a fact about themselves from their genome.
A third concern that is raised, is where the money would come from to expand the current system. If more people wanted genomic sequencing the price would rise. If it became a standard procedure, and if sequencing were to be done as part of the public health system as newborn screening is today, taxes would need to be raised. In addition, the sequence could tell a person they have a chance of getting a certain disease which could require a lot of medical follow-up. One example this applies to is certain genes associated with a high risk of breast cancer. In reality, a person could read they have a high risk percentage, undergo a lot of medical monitoring and perhaps even treatments, change their lifestyle, yet never end up actually developing the condition. Lastly, genome sequencing at birth can lead to social implications like discrimination, higher insurance rates and relationship troubles if everyone were to be aware of each other’s genomic information. This will be expanded on later in this paper.
Ethical Consideration #2: Family’s Right to Know
On the flip side of the argument that newborn sequencing should not proceed because it violates the child’s right not to know, is the value of beneficence, which backs up the family’s right to know their child’s sequenced genome. Beneficence is the principle requiring us to take actions for the benefit of others. It is also one of the four biomedical principles. In this application, a doctor or those controlling public health could argue sequencing newborns would benefit the family and/or the newborn child. This could mean looking out for the best interest of the entire family, or just solely the child. When a child’s genome is sequenced, information can also be revealed about the parents. For example, if a girl receives information that she has a high chance of getting breast cancer, then it is concluded that the mother might carry that same gene for breast cancer but not know about it. If she is told, she could access treatment that could save her life. The family could grow stronger knowing more about their history of the genes that have been passed down and which ones will continue to be passed down. Additionally, the family would be able to cope with the news together and deal with it as a whole family, not alone. With a child’s parent having access to their child’s genetic risk, they will be able to plan their lives differently to prepare for the future.
A question that arises from the decision to sequence a newborn’s genome is if and when will the child find out their sequenced genome information? Where is the line drawn? Is it fair for a parent to never disclose the child’s sequenced genomic information to the child? When determining what that age would be in the United States, there are currently different age guidelines for when people receive privileges. At 18 years old in the United States, a person can make all decisions on their own without parental consent or involvement as they are a legal adult. However, a person cannot hold office until 35 or drink alcohol until 21, yet a person can get emancipated from their parents at age 16. Also, many countries have different ages where a person is considered an adult, ranging from 15 in Saudi Arabia to 21 in several other countries. Another factor to examine is if a person were to only gain access to their sequenced genome at 18 or a particular age, there is a potential for conditions to develop during those 18 years which could have been treated or a person could have changed their lifestyle.
Many scientists are very passionate about everyone getting their genome sequenced and have already gotten their own sequenced. A genetics professor at the University of Geneva, in Switzerland said, “I think everyone should have their genome sequenced yesterday!” Most scientists and geneticists are very passionate about people getting their full genome sequenced because it would give useful data to them since they are still trying to understand certain bits of DNA and what the certain nucleotides correspond to in traits and characteristics of people. The understanding of other people’s genomes could be improved by simply having more people undergo genome sequencing. Another common reason people want to know their genomic information is it can allow a person to prepare themselves, financially and with support from others, for what is or might be to come. Furthermore, a person can potentially prevent certain conditions from occurring by having this prior knowledge of it, before the condition actually develops. For instance, the chances for one to get heart disease can be discovered which could help a person change their lifestyle by increasing exercise, in order to prevent it. Lastly, a person can learn more about what makes them who they are from bringing to light their family tree as well as what genes have the potential to be passed down.
Finally, people may want to know their sequenced genome because of an application that could save many lives. Precision medicine is when one’s medicine and health care is customized from their genome. Right now, medicine is prescribed for everyone based on the “average patient”, but many times people can be allergic or non- responsive for certain medications, leading to misdiagnosis. There are approximately 12 million diagnostic errors each year. Precision medicine is done by analyzing millions of people’s genomes in a group. This way doctors can better predict which medication will work best for what type of person, leading to fewer mistakes and more precise prescriptions. The downside to taking millions of people’s genomes in a large pool to analyse is a person’s whole medical history and genome would have to be shared. This is a major privacy issue because for scientists to truly gather their data, the genome could not be stripped of the person’s identity. More so, a person’s genome could be being used for research right now without their consent. It is legal for a researcher to obtain a person’s blood that is no longer needed for them. They could then use that blood to sequence that person’s genome, therefore gaining complete control of it for whatever research is desired. Your fingerprint is protected under federal 2003 HIPAA Privacy and Security, however a genome is not. Additionally, cyberattacks can occur at hospitals, laboratories and insurers. What if a system is hacked and they gain access to your genome? A system needs to be created to protect a person’s sequenced genome in order for precision medicine to be used to advance the medicine field.
Ethical Consideration #3: Implications on Society
Society as a whole will be significantly impacted if everyone gets their genome sequenced at birth. Profound consequences would result in all aspects of everyday life. In this dystopian society, when a person meets someone new they would take in their name, appearance, family and genome. A person’s genome could end up being valued over one’s acts or achievements. Overall, genetic discrimination could appear with people judging others based solely on what is on their genome.
One area relates to employment, as some people could have even more terrible difficulties getting a job. Employers could refuse employers who have the possibility of developing certain conditions as they would have to pay for their insurance. An even more scary issue is a person’s sequenced genome could be the only thing required to get a job. This is shown in the movie, GATTACA, where a man is only allowed to have certain jobs like cleaning bathrooms due to his genomic information. Less emphasis could be placed on a person’s personality and work ethic and more emphasis on the code inside that person.
A second area is insurance, as rates could increase with the knowledge of disease probability. In 2008, a Genetic Information Nondiscrimination Act (GINA) was passed and later put into action in 2009. GINA is a federal law so it applies to all states as the minimum coverage, preventing genetic discrimination for Americans in health insurance and in employment; however, it does not cover life insurance, disability insurance, long term care insurance, schools, mortgage lending or housing. Some states have passed their own laws regarding other areas of discrimination though. For example, Illinois, Iowa, New Hampshire, New Jersey, New York, North Carolina, Oregon, Rhode Island, Texas and Wisconsin have more protections for their citizens in the employment. Arizona and Colorado are the only two states that provide protection against genetic discrimination in disability insurance. Lastly, Arizona, New Jersey, Maryland and Montana have limited legislative protections for discrimination regarding life insurance.
A third area of life that would be affected, consciously or self consciously, would be in relationships. People may begin to choose to only get involved with others based on their “good” genes and choose to not get involved with those who have the probability for certain diseases like Parkinson’s. Overall, this would lead to the surfacing of eugenics as this is the concept of science or movement of improving the human race. Another scene from the movie, GATTACA, is where the lead woman gives the lead man a piece of her hair and says to let her know if he is still interested. This reflects the large impact and influence that one’s genome could have on a person’s dating life.
The last aspect of this topic that raises important questions is where everyone’s sequenced genomes will be stored. If the government is storing all of them in a database, who has access to it? Are there or could there be any limitations on who has access to this, or will one lose all control over their genome? Also, what if other countries hack the United States’ databases? Could a person really have enough faith in their national security to trust the government with that sensitive of personal information?
Adoption is a situation that raises some of the same questions as genome sequencing for a newborn. For example, the adoptive parents of a child must decide if and when to inform their child that they are adopted as well as disclose information about his or her biological parents. A parent could decide to never inform their child that they were adopted. Is that fair? Should a parent be able to withhold a child’s genome information if a parent can withhold their parental biological information? Some parents make the decision not to inform their child because they want to spare their child of hurtful information. This same reason could be applied to a parent deciding to spare a child of scary genomic information like their child going to develop Alzheimer’s. Additionally, a parent could not know when to tell their child and be worried about telling them too early as that could come off as confusing or unclear to the child. This directly corresponds to newborn genome sequencing because those same thoughts could be going through a parent’s mind about deciding how and when the best time is to tell their child about their sequenced genome without scarring them. The director of the Biomedical Ethics program at the Mayo Clinic located in Minnesota, Dr. Richard Sharp, says, “If the child is sequenced at birth and the information is already there, there will be all of these complexities about what point do you start the conversation? There’s going to be a real need for a national level discussion on when and how to breach the conversation with a child.” Research does find that a child benefits most from learning early that they were adopted and it is recommended to tell your child, not hide that from them. However, it is ultimately up to the adopted parents of a child to decide if and when to do this.
23andMe is a company that sells kits for only $199, where the consumer spits in a tube at home that they will then send back to the company. There are two different options for what type of information one can receive back based on their genome within 6-8 weeks after submission. The first is only an Ancestry Service where a person can discover the proportions and percentages of which countries one’s ancestors originated from as well as their history of migrants. The other package includes the Ancestry Service along with, what the company calls, a Health Service. The Health Service includes testing for variants corresponding to certain diseases like Alzheimer’s or Parkinson’s, wellness reports for things like alcohol flush reaction or genetic weight, a traits report that displays unique characteristics in a person like bitter taste perception or male hair loss, and the last section shows carrier status reports that depict which genes one is going to pass down to their child such as the cystic fibrosis variant or the sickle cell anemia variant. As of now, this is FDA approved however initially the FDA did not permit the at home testing this company supplies because they thought mental anguish would be experienced and because they were worried about patients making medical decisions without advice of a medical professional . This argument was made because not all patients are going to necessarily have access to a doctor, meaning they could be all alone when receiving results. Also, there is no guarantee that they will seek genetic counseling or professional help. Furthermore, results could be misconstrued since the report does not take into account environmental factors and is not diagnostic. Undue harm could be affecting a person’s lives because of these tests. Another issue about 23andMe, is there are discrepancies about them selling their consumer’s genomes to researchers and taking a profit from that. When a person is submitting their spit, they risk permanently losing control over their genome and who has access to it; their privacy could be gone forever. (23andMe)
I think a newborn’s full genome should be sequenced at birth but the only parts of the genome the family can have access to is early onset and treatable conditions. A child’s right not to want to know their genome or have their family know their genome should be respected. However, beneficence can still be applied because diseases where a lifestyle can be altered by the parents of the child to benefit the family are accessible. A child should be able to gain access to their sequenced genome at the age of 18 in the United States because that is when they are declared a legal adult and subsequently able to make their all of their own medical decisions. Although, that person is not obligated to analyze their genome, only if they desire to. If a person chooses to have access to their sequenced genome at the age of 18, he or she needs to undergo a process to do this. Part of the process will include genetic counseling to help them determine whether or not they really should gain access to their sequenced genome as the answer to this can depend on the type of person they are. In addition, they need to fully come to acceptance with the possibility of what information they could find out as well as how they will try to deal with the news in a healthy way. Things to further explore would be how society as a whole would change or not change based on whether or not the majority of the population choose to gain access to their sequenced genome at age 18 or not.
Society and the government need to acknowledge this growing technology. For instance, one modification that I believe should occur is for GINA to be expanded to include more aspects of life: all types of insurance, schools and housing. There is still an issue in social interactions like relationships. In an effort, to help subdue the effects of a sequenced genome controlling all human interactions, it could be encouraged to keep aspects of genome between yourself and your family. In addition to this, I think one’s genome should be protected the same way a fingerprint is today. National talks must start soon to bring awareness to people everywhere of what is evolving right now because genome sequencing has the powerful ability to bring a revolution to humankind.