Home Genetic Testing, Helpful or Harmful?
Home Genetic Testing, Helpful or Harmful?
$99 for a Lifetime of Worries: The Ethical Implications of Direct-to-Consumer Genetic Testing
By Arden Meyer
This research paper explores the widely popular direct-to-consumer genetic test, 23andme, and participants’ potential sacrifice of privacy and autonomy. These sacrifices create risks of genetic exploitation, genetic discrimination, and unnecessary angst about an individuals future state of health. Many individuals choose to take a 23andMe test to learn about their genome – what their ancestry looks like or what genetic health predispositions they carry. Although learning about one’s genome can seem harmless at times, there are many risks such as genetic exploitation, genetic discrimination, and a loss of privacy. Hackers, the government, insurance companies, or employers have the possibility to receive an individual’s genetic information. This would grant them access to the genome of another individual and would give them the opportunity to identify their DNA. This has the possibility to lead to genetic discrimination. GINA attempts to prevent genetic discrimination, but there are faults within our own legislation. There are many ethical complications in this area under the values of privacy, equality, and autonomy. This paper strives to answer the question: Is it ethically permissible to participate in 23andMe with the potential risks of loss of privacy and genetic discrimination.
Table of Contents
- 23andMe Background
- DNA Identification
- Legal Ramifications
- Who is involved?
- Is Privacy Power or Ignorance?
- DTC Creating More or Less Equality?
- Providing or Violating Autonomy?
“Welcome to you” is the slogan printed across the box of the 23andMe test. Simple yet promising, these three words draw customers in to see what this test is truly about. 23andMe is an easily accessible as well as a popular direct-to-consumer genetic test that has been used by more than five million individuals. This simple and seemingly harmless test can provide information about ancestry along with genetic health. It is attractive to individuals who are curious about their ancestry or their possible predisposition to certain diseases or conditions.
However, learning about one’s genetic health risks could create a multitude of problems including a loss of privacy and unnecessary angst about one’s future health. Currently, 23andMe has created complications in the areas of privacy between the consumer and company, family members, and others that are distantly related to the subject of the test. The ability of hackers or the government to retrieve information obtained from these home genetic tests is fairly simple for individuals with a background in hacking, which would allow others to access the details of one’s genome. This direct loss of privacy has the potential to create a much larger and more complex issue of genetic discrimination. Genetic discrimination is the process by which individuals are treated differently because of their genetic profile. The federal anti-discrimination law, GINA, addresses the possibility of genetic discrimination and provides some protection. However, it does not address the full array of potential discriminatory conduct or the possibility of state action. The possibility of genetic discrimination stemming from the use of 23andMe creates conflicts in the field of ethics, specifically with the values of privacy, equality, and autonomy. This paper will focus on the topics of privacy, equality, and autonomy of direct-to-consumer genetic testing, specifically, 23andMe. It will outline where the participants’ genetic information goes, the effect that it has on them as well as others, and how it could lead to genetic discrimination. Ultimately, this paper will strive to answer the question: Is it ethically permissible to participate in 23andMe with the potential risks of loss of privacy and genetic discrimination?
Direct-to-consumer genetic tests are defined as genetic tests that are marketed directly to customers and can be purchased either online or in stores. They also provide access to an individual’s genetic information without involving a healthcare provider or health insurance company (What is direct-to-consumer genetic testing?). Customers send their DNA sample directly to the company and receive results about their ancestry or genetic health.
DNA and genetics are the main focuses of 23andMe, which analyzes a participant’s DNA in an attempt to inform them about their genetic health, traits, or ancestry. DNA, deoxyribonucleic acid, is defined as a self-replicating material present in nearly all living organisms as the main constituent of chromosomes, which are the carriers of genetic information.
DNA is what makes humans unique and contains all of the information and the coding behind an individual’s phenotypes, the physical expression of an individual’s traits.
Genetics is defined as the study of heredity and the variation of inherited characteristics. 23andMe is heavily reliant on genetics because that is how an individuals’ DNA is studied. Direct-to-consumer testing, specifically 23andMe, uses the participants’ DNA sample to inform the user about what lies in their genetic profile.
History of DTC and 23andMe
Direct-to-consumer genetic testing was developed earlier this century and allowed consumers to access their genetics without the involvement of a physician or a healthcare provider. The early models, though popular, were controversial in the medical field and difficult to regulate (Allyse). In the early stages of direct-to-consumer genetic testing, prices were high. Testing was initially around $1000 and by 2012 decreased to $99-$500. In 2012, most of the direct-to-consumer genetic tests provided medical information based on genetics. The majority of the services offering medical information based on genetics were forced out of business when the FDA temporarily banned these companies from providing that sensitive information. In 2017, these tests began to make a comeback because the FDA once again authorized their use. In 2006, 23andMe was founded by Anne Wojcicki, Linda Avery, and Paul Cusenza. One year later, 23andMe launched their Personal Genome Service (23andMe.com). 23andMe originally involved just ancestry testing.
However, in 2017, 23andMe was the first company to obtain FDA authorization to test for BRCA1 and BRCA2 genes. The BRCA 1 and BRCA 2 genes are known to be associated with a higher risk for breast, ovarian, and prostate cancer.(https://mediacenter.23andme.com).
The primary mission of 23andMe is to help individuals access, understand, and benefit from knowledge obtained from their genome. One of 23andMe’s main goals is to improve healthcare by using data derived from DNA to revolutionize health and research. Another goal is to accelerate the pace of research and to develop pharmaceuticals quickly. 23andMe has partnerships with medical research and drug companies that will help them accomplish these goals. 23andMe strives to use science to help consumers understand their DNA along with being a trusted source of genetic information. Additionally, 23andMe wants consumers to understand that they know that there is a person behind every saliva sample and that everyone’s genetic journey is different and special (23andMe.com).
23andMe provides multiple options and different types of kits to accommodate their customer’s desires. There are three different kit options for 23andMe: Ancestry and Traits, which costs $99.00; Health and Ancestry, which costs $199.00; and the VIP Health and Ancestry Service, which costs $499.00. The Health and Ancestry kit is listed under “recommended” on the 23andMe website. Each kit offers different types of tests and yields different results. The Ancestry and Traits kit allows consumers to explore their family ancestry along with traits that are embedded in their DNA that have the possibility to make them unique. With this test, there is an additional option called the DNA Relative Finder. This extra program allows individuals that complete a test to see relatives whom they share DNA with and what general area they live in on a map. The relatives only appear on the map if they have taken a 23andMe test and have opted to participate in the DNA Relative Finder.
The participants in 23andMe can opt-in to have people be able to find them on the map or to see the map and their distantly related relatives. Participants have to opt-in to use the feature; the default is opting-out.
The Health and Ancestry kit yields the same ancestry information as does the Ancestry and Traits kit, but it adds information about an individual’s genetic health. Individuals can learn about their genetic health risk, specifically if they have an increased risk of developing certain health conditions, such as late-onset Alzheimer’s disease or Parkinson’s disease. It also determines if an individual is a carrier for a certain gene or mutations in certain genes. The final test they offer is the VIP Health and Ancestry Service. This service combines the two services mentioned above and offers information about ancestry, traits, and genetic health. What makes this service different from the other two, besides the cost, is that it provides benefits. The benefits include priority lab processing, premium customer support, and a 1-on-1 ancestry results walkthrough. The 1-1 ancestry Walkthrough allows the consumer to directly communicate with someone who will explain the details of their ancestry results. The individual who provides a walkthrough of ancestry results is a trained expert at 23andMe and does not provide a walkthrough of the health results. This individual is not a genetic counselor.
23andMe provides a multitude of kit options to satisfy consumer needs: Ancestry and Traits, Health and Ancestry, and VIP Health and Ancestry. Each of these kits varies in price and in function and the VIP Health and Ancestry kit comes with benefits. Participants also have the opportunity to opt into the DNA Relative Finder along with other extra options that come with participating in a test.
The testing process is fairly simple. The individual who takes the test submits a saliva sample and mails it to 23andMe along with a completed questionnaire. The questionnaire asks individuals information regarding their name, email, sex, date of birth, and credit card number. 23andMe receives their kit and analyzes their DNA.
The results are received in two to three weeks or sooner depending on the kit that is purchased. The information that was submitted to 23andMe is kept anonymized in the 23andMe database.
There is also the opportunity to opt-in to research involving the participant’s genetics. It is important to know, however, that if an individual opts-in and research is done that involves their genes and then they opt-out, their genetic information cannot be removed from the previous research that was done. A statistic about 23andMe and DNA research is that more than 80% of 23andMe’s two million-plus customers are having their DNA used for research whether they know it or not. Some knowingly opted in, while others did not.
After an individual completes a 23andMe test, their information is stored in the 23andMe database. As stated previously, 23andMe has a long term goal that includes selling individuals data for advertising purposes. 23andMe also has partnerships with academic institutions and drug companies such as Genentech and Otsuka and those companies could potentially use the DNA in the database for research (Fry).
23andMe has other partnerships with other drug and medical research companies where they sell aggregated data, or data without a name or any personal information, for profit.
Medical information related to genetics is very valuable for profit purposes and research. Research done using test results from genetic testing companies could help create treatments or prevention strategies for genetic disorders. 23andMe could disclose someone’s genetic information to make a profit, even if it harms someone’s genetic privacy. Are these goals impacting an individual’s autonomy? As stated earlier, the genetic information that lies in the database has the possibility to be hacked, requested for by multiple individuals, or leaked. This has the possibility to play into genetic exploitation. This is an obvious breach of privacy; is disclosing an individual’s genetic information worth the possible harm and genetic exploitation they could experience? The concept of genetic exploitation will be touched on in more detail later in the paper.
After a test is completed, the individuals’ data is stored in the 23andMe database. 23andMe has a long term goal that includes selling individuals data for advertising purposes. Genetic research is very valuable research and 23andMe could disclose someone’s genetic information to make a profit. The 23andMe database also has the possibility to be hacked or leaked.
To lower the risk of the leakage of DNA and personal information, 23andMe has many safeguards in place. First and foremost, 23andMe lets participants decide whether or not they store their saliva sample and if the participant wishes for their account to be visible by other 23andMe members. Additionally, participants have the option to choose if they want to participate in the DNA Relatives tool and also allows participants to make decisions on how their information is stored, utilized, and shared at any time.
The participants’ personal information recorded from registration is stored separately from the genetic information submitted. This reduces the likelihood that participants will be identified.
The participants’ genetic information is only identified using a barcode system. When participants decide to participate in research, data is shared with external research partners and in scientific publications. The data given will be summarized across all of the individuals that participate in the research to minimize the chance of personal information being exposed. The data shared is also stripped of personal information and is stored with the survey response data with a randomized research identification number (23andMe.com).
In addition to safeguards provided by 23andMe employees, there are numerous computer safeguards in place. Their information security management system protects 23andMe systems and has been certified under the ISO/IED 27001:2013 standard. 23andMe uses
“industry standard security measures to encrypt sensitive information both at rest and intransit.” – 23andMe.com, the company that administers direct-to-consumer genetic tests
Sensitive information’s access is also limited to authorized personnel. 23andMe’s access controls are multi-factor authentication, single sign-on, and strict least-privileged authorization policy. Despite the protection and safeguards in place to protect consumer’s data, 23andMe states,
“it is never possible to fully guarantee against breaches in security.” – 23andMe.com, the company that administers direct-to-consumer genetic tests
23andMe has many safeguards in place to protect consumers’ personal and genetic information. 23andMe lets participants decide on what they want to participate in, participants sharing settings can be changed at any time, and the participants’ genetic information is stored separately from their personal information and is de-identified. 23andMe also has a certified information security system, multi-factor authentication, and other safeguards to protect personal information.
Although the participants of 23andMe, test results, and DNA are stored anonymously in a database, hackers still have the possibility to access the database and steal or view an individual’s genetic information. The hacking of a database containing genetic information does not occur as often as one would think, but when it occurs it is a possibility that millions of individual’s genetic information could be leaked. 23andMe states that participants’ DNA is de-identified and can only be used by outside sources with their consent. De-identification is the process of removing the participants name and personal information from their DNA. Unlike a credit card leak or identity theft, genetic information cannot simply be changed. While credit cards can be replaced and changed, each person only has one genetic makeup and if that is leaked, individuals can’t simply change the sequence of their genes. The process that hackers use to put a name to a DNA sample is called re-identification. Re-identification is defined (specifically for DNA) as renaming or naming an anonymized sample of DNA. MyHeritage, another direct-to-consumer genetic test that specializes in ancestry information, revealed that they were hacked.
“This week, DNA testing service MyHeritage revealed that hackers had breached 92 million of its accounts. Though the hackers only accessed encrypted emails and passwords — so they never reached the actual genetic data — there’s no question that this type of hack will happen more frequently as consumer genetic testing becomes more and more popular.” – Angela Chen, a science reporter at The Verge and a previous staff reporter at the Wall Street Journal
To describe the process of re-identification, it is helpful to understand how hackers could obtain an individual’s genetic information. The genetic information or anonymized DNA sample begins in the 23andMe database. The database is hacked and the hackers steal all of the anonymized DNA or genetic information. If the data was de-identified, the hackers would only have access to the individual’s genetic profile and test results. Once the hackers acquire the DNA and test results, the data can be cross-referenced. This is the determining factor if the data is de-identified because this is how the DNA is connected to the individual’s identity. The hackers use the results from the test, specifically the medical information, in the database to connect the participant to other pharmaceutical purchases that they have made. By finding their prescription purchases, hackers can find the users name, address, phone number, email, and social security number. Hackers also cross-reference data with other sensitive files that hackers and thieves have obtained in years past. The final step that hackers use to re-identify information is a de-identification engine. This engine allows data miners to link anonymized records from multiple sources throughout the internet, which is correct 99% of the time. Another option is the software program REID, Re-Identification of DNA. This software uncovers occurrences in disease patterns across data collections that reveal the identities of patients who are linked to the DNA found in the database. At the end of the process, hackers have the possibility to gain a wide span of information about the participant in 23andMe. Information could stem from their name, email, and phone number to their address, social security number, medical information, and credit card information (Malin) (Tanner).
Even though the participants’ DNA is stored anonymously in a database, hackers still could access the database and steal or view a participants’ genetic information. Hacking does not occur as much as an individual may think, however, hacks could be detrimental to an individuals privacy.
The process that hackers use to put a name to a DNA sample is called re-identification. The steps of re-identification are as follows, 1. the database is hacked, 2. the data is cross-referenced, 3. the DNA is linked to pharmaceutical purchases that the participant has made or other files the hackers found, 4. de-identification engine or REID.
Genetic Exploitation and Discrimination
Genetic exploitation is defined as the sharing of one’s genetic information to a third party source without their consent. There are many risks of genetic exploitation, mainly, a loss of privacy and most importantly, genetic discrimination. The aspect of loss of privacy being partnered with genetic exploitation is very important and touches on the ethical value of privacy.
Privacy is something that individuals strive to maintain, but genetic testing has the possibility to breach someone’s privacy through genetic exploitation. It is possible for a participant’s genetic information to fall into the hands of a future employer, insurance company, friends, or family members. This is an obvious loss of privacy and do individuals want others to know what lies in their genes? The loss of privacy is not just important to the test-taker, it is important to their family members or anyone who shares DNA with them. By testing one person’s DNA, they are testing their entire family’s DNA even if they only share a few genes. Genetic discrimination is one of the main impacts and risks of participating in direct-to-consumer genetic testing.
Genetic discrimination is one of the main consequences of genetic exploitation and has the possibility to replace the “old fashioned” form of discrimination.
Genetic discrimination is defined as individuals being treated differently because of their genetic profile.
Consider this hypothetical scenario. An individual has completed a 23andMe test and the results are fairly reassuring, however; they have a 2% higher chance of developing Alzheimer’s. One day, they decide to apply for a mortgage and are not granted the loan because of their higher risk. This is a possible consequence of the participant’s information being purchased from 23andMe and genetic discrimination. Although this scenario may seem extreme, it is a possibility and one of the consequences of genetic discrimination. Once the individual’s genetic information is shared with 23andMe, it is out of their hands. The individual cannot control what happens to their genetic information or personal information. Any individual possessing a participant’s genetic information could lead to discrimination. This can occur between friends, family members, in the workplace, and within insurance companies. There have been multiple scenarios where an individual has been discriminated against in the workplace or with insurance because they possess a higher risk for developing a certain genetic disorder or are a carrier for a gene.
“A few weeks into sixth grade, Colman Chadam had to leave school because of his DNA. The situation, odd as it may sound, played out like this. Colman has genetic markers for cystic fibrosis, and kids with the inherited lung disease can’t be near each other because they’re vulnerable to contagious infections. Two siblings with cystic fibrosis also attended Colman’s middle school in Palo Alto, California in 2012. So Colman was out, even though he didn’t actually have the disease, according to a lawsuit that his parents filed against the school district. The allegation? Genetic discrimination.”– Sarah Zhang, was a writer at Wired and is now a staff writer at The Atlantic
The other two children with cystic fibrosis were allowed to stay in school while Coleman had to leave. This is a prime example of genetic discrimination creating a less equal world which will be touched on later in the paper. The example of discrimination given below is an example of unemployment as a result of an individual’s carrier status on a mutation being leaked.
“An employee’s parent developed Huntington’s disease-indicating that the employee had a 50 percent chance of inheriting the mutated gene that would cause her to develop the disease. She decided to be tested. A genetic counselor advised her to secure life and health insurance before testing, because a positive test result would not only mean that she would get the disease but would probably prevent her from obtaining insurance as well. A co-worker who overheard her making arrangements to be tested reported the employee’s conversations to their boss. Initially, the boss seemed empathetic and offered to help. When the employee eventually shared the news that her test results indicated that she did carry the mutated gene, she was fired from her job. In the 8-month period prior to her termination, she had received three promotions and outstanding performance reviews.”– Genetic Information and the Workplace, National Human Genome Research Institute
In this example above, a woman was discriminated against in the workplace because she would develop Huntington’s disease later in her lifetime. This is a prime example of the extent to which genetic discrimination could impact an individual in their workplace.
GINA, the Genetic Information Nondiscrimination Act, which was enacted in 2008, is the main law in the United States that prevents or attempts to prevent genetic discrimination.
GINA protects individuals from information derived from family health history, results of genetic tests, the use of genetic counseling and other genetic services, and participation in research.
GINA has two titles; Title I concerns health insurance and Title II concerns employment. Title I: GINA makes it illegal for health insurers to request, require, or use genetic information to make decisions about an individual’s health insurance, its cost, and what it entails. It is also against the law for an individual’s health insurer to use a genetic test or family history to deny health insurance or higher insurance rates. Title II: GINA makes it illegal for employers to use genetic information for hiring, firing, promoting, determining pay, privileges, or terms. It is also illegal to segregate or mistreat an employee. Additionally, it is against the law for an employer to request, require, or purchase the genetic information of a potential or current employee or his/her family members. There are a few exceptions to this. An exception to that law is when an employer can legally have an individual’s genetic information. If an employer does possess that information, they have to keep it confidential and in a separate medical file.
There are four main concerns about the loss of privacy and misuse of genetic information that sparked the creation of GINA. Individuals are concerned about having their privacy in relation to their health invaded by commercial companies that are searching for their health records for their genetic information. Individuals fear that they will be required to undergo genetic testing to acquire health insurance or to become employed. This would uncover information about their health that they may not want anyone else to know or that they might not want to know themselves. Individuals worry that their health insurer or employer will misunderstand their genetic information, which may result in losing a job or insurance. Having a disposition to a disorder does not equate to eventuality and individuals may worry that having a disposition to a disorder will result in unemployment or higher insurance rates. The results of genetic tests could be used to exclude them from something that is very valuable to them (Rothstein).
GINA protects individuals from genetic discrimination, allows individuals to feel more comfortable about speaking to healthcare providers about their genetic health, and makes individuals feel more secure about taking genetic tests. On the other hand, GINA does not apply when an employer has fewer than 15 employees. It also only protects individuals against genetic discrimination in a health insurance environment. GINA does not protect individuals in other forms of insurance.
One of the main problems with GINA is that it’s based on a concept called “genetic exceptionalism,” which is defined as genetic information being treated separately and differently than other health information. The idea of genetic exceptionalism is difficult to understand or base a law on for many reasons. First, it is impossible to define the term genetics because scientists have discovered that genetics or genes play a role in the vast majority of every human health problem.
It is also impossible to isolate genetic information in health records because of the strong relation between genetics and human health.
GINA increases the stigma associated with genetic disorders and conditions because having a separate law increases the worry and awareness. Having an act dedicated to limiting discrimination of individuals with genetic conditions or predispositions to a genetic condition draws more attention to the issue. As a result of increased attention, individuals begin to develop negative opinions about possessing a genetic condition or predisposition. Finally, it is difficult to make an argument that it is unjust to discriminate against individuals with a certain condition that is genetic and that it is just to discriminate against individuals with the same condition that is not related to genetics. Also, if there is genetic testing done and the results come back positive for a BRCA mutation, once the condition is developed, insurance companies and employers could discriminate.
“To take a common example, it would prohibit discrimination against a woman who tested positive for one of the genetic mutations associated with an increased risk of breast cancer. Nevertheless, after a period of time, assuming the woman developed breast cancer, GINA would provide no protection. GINA, like all of the state laws on the issue, would apply only to asymptomatic individuals. It would be a matter of state insurance law whether the insurer could decide not to renew the policy or to increase the rates substantially. Only a few states have guaranteed renewal laws.”– Mark A. Rothstein, Herbert F. Boehl Chair of Law and Medicine and the Director of the Institute for Bioethics, Health Policy and Law at the University of Louisville School of Medicine in Kentucky
For example, GINA would protect 5-10 percent of the women who get breast cancer from known causes that are related to genetics. GINA would not protect the other women who get breast cancer from unknown causes such as their environment. For an example of genetic discrimination in the workplace, see the Legislation sub-section under the Legal Ramifications section.
GINA, the Genetic Information Nondiscrimination Act, was enacted in 2008 and is the main law in the United States that prevents or attempts to prevent genetic discrimination. GINA has two titles: Title 1 concerns insurance and Title 2 concerns employment. There are four main concerns that prompted the creation of GINA – individuals are concerned about having their privacy in relation to their health invaded by commercial companies, individuals fear that they will be required to undergo genetic testing to acquire health insurance or to become employed, individuals worry that their health insurer or employer will misunderstand their genetic information, and that the results of genetic tests could be used to exclude them from something that is very valuable to them (Rothstein). GINA only protects individuals against genetic discrimination in a health insurance environment (not any other forms of insurance). There are many problems with GINA too – it’s based on “genetic exceptionalism”, increases the stigma associated with genetic disorders and conditions, and it is difficult to make an argument that it is unjust to discriminate against individuals with a certain condition that is genetic and that it is just to discriminate against individuals with the same condition that is not related to genetics.
Who is involved?
There is not just one reason why individuals participate in 23andMe testing because everyone has different motives or desires to learn information about themselves. One common reason why individuals participate in 23andMe testing is simple, curiosity. Individuals now have the opportunity to submit their saliva and learn about what lies in their genetics. This may sound appealing to some, but is knowledge pain or power? Is giving up privacy worth discovering what lies in an individual’s genes? These tests are also affordable and accessible for most which increases the risk that they will be taken. Many individuals may desire to know what lies in their ancestry or the traits that make them unique. Individuals may also take these tests to learn about their genetic health, which may provide them with relief or extra worry. It also allows individuals to plan to circumvent possible negative impacts. Does human nature have an innate curiosity and desire to know our identity?
Direct-to-consumer genetic tests have the possibility to impact many individuals. First, these tests impact the owners of 23andMe. 23andMe is administering these genetic tests, distributing them to the public, analyzing the participants’ DNA, and sending the results back to the individual. The company plays a large role in the process of genetic testing and is thereby a stakeholder. These tests also impact the individuals who participate in the testing. These individuals are submitting a sample of their DNA to be reviewed and analyzed by genetic professionals. There are many factors at risk for the participant, but there are also many benefits. Everyone who views the results is also a stakeholder because the valuable information that lies in the genetic test results could be used in a variety of ways, such as future medical treatment or discrimination. The individuals who view the test results have the opportunity to discriminate against the participant of the genetic test.
Also, one of the most overlooked stakeholders are the family members of the participant. When an individual submits their DNA to be tested, they also submit the DNA of people who share their genes, otherwise known as their family. Their family members may not want to know if there is something negative in their gene pool which could have a potentially negative impact on family dynamics.
For example, there was a woman who completed a 23andMe test along with her father. By using the DNA Relative Finder, she found that she shared 22% of her genome with someone that she was not familiar with. When an individual shares around 25% of their genome with someone it means that they are either their grandfather, uncle, or half-sibling. “Thomas” also shared 50% of his genome with her father and was predicted as his son. She discovered that her father had another child that she and her mother were not aware of. This destroyed her family’s dynamic and resulted in her parents getting a divorce (vox.com). Another example of a direct-to-consumer genetic test changing family dynamics, Dani Shapiro took a 23andMe ancestry test and expected her results to come back as 90-100% Eastern-European Ashkenazi. Her test results showed a completely different story; she was only 50% Eastern-European Ashkenazi and that she was not related to the family she has lived with all of her life. This was a life changing moment because she realized that she was not biologically related to the family that she has known and loved all of her life. Her family suddenly became her “social” and not “biological” family.
Is Privacy Power or Ignorance?
Genetic testing breaches the privacy of a participant’s family members and others related to them. Because they are retrieving information about their gene pool, they are also retrieving information about what lies in the gene pool of their relatives. All of the privacy risks that apply to them in this situation also apply to their relatives because they are submitting their genes as well as theirs. They also may not want to possess the knowledge of something negative or potentially dangerous lying in their gene pool.
It is possible that hackers or internet thieves on the internet could obtain the participant’s DNA by hacking. The government could also request to obtain an individual’s DNA and test results to solve a forensic crime where DNA is an integral component. It could be argued from a utilitarian standpoint that the government is requesting to obtain an individual’s DNA for the greater good. This could help solve possible forensic crimes to take criminals off of the street and possibly save the lives of many innocent civilians. Finally, a potential employer or insurer could receive an individual’s genetic test results and information. It is not common for an individual’s genetic information to fall into the hands of an insurance company, hacked, or bought by an employer. However, when it occurs, it could be detrimental to the participant’s life. Is this loss of privacy worth the benefits of 23andMe?
It is possible for the participants’ genetic information to fall into the hands of other individuals. Others may want the participants’ genetic information to conduct research on genetic disorders, sell genetic information for profit, uncover more information on the test taker, and even to solve crimes. A possible employer or insurer may want an individual’s DNA to determine insurance rates. For example, if someone has a risk of developing breast cancer, the insurer may make their rate higher.
“If you choose to opt-out of 23andMe Research, any of your data that have already been entered into a study cannot be withdrawn, but your data will not be included in studies that start more than 30 days after you withdraw.”– customercare.23andMe.com, the company that administers direct-to-consumer genetic tests
Credit card fraud and identity theft are repairable, however; if genetic information is stolen, it cannot be corrected. It is possible for individuals to be discriminated against because of genetic testing results. Individuals can lose their job if they have a disposition for a dangerous condition or insurers can higher insurance rates based on test results. It is also possible for research or studies to be done on the participants’ DNA and genome because genetic research is very valuable. Whoever possesses the test results and the participant’s genetic profile may sell that valuable and private information to make a profit. There are many other possible routes that a participant’s DNA could follow.
“As part of a four-year deal between the two companies, GlaxoSmithKline will comb 23andMe’s genetic data to look for new drugs to develop, also referred to as drug targets. It will also use the genetic data to inform how patients are selected for clinical trials.”– Erin Brodwin, senior health and tech reporter at Business Insider
As mentioned earlier in the paper, when an individual gives up their privacy, personal information, and genetic information to participate in these tests, their DNA has the possibility to be re-identified. Many individuals believe that their DNA can’t be reconnected with their identity and go into these tests unknowing of the re-identification process.
The loss of privacy could result in a participant’s information being used for research on genetic disorders/diseases. Research done on genetic disorders and diseases is very highly valued research and it could be used to help prevent or cure genetic conditions. Taking a genetic test and checking the box to participate in research could help create future treatments, prevention strategies, and possibly save lives.
The loss of privacy has the possibility to be beneficial to the test taker. These tests will give the participant a glimpse of their medical future whether it is good or bad. It will also inform the participant about what lies in their gene pool. If the participant decides to have children, they will know whether they are a carrier for a genetic disorder or a mutation and they could visit a genetic counselor for further guidance.
The view of consequentialism supports the arguments for privacy because there are more positive consequences for the person taking the test than negative consequences. Although this differs from person to person, there are more positive impacts than negative impacts when taking direct-to-consumer genetic tests. Having an individual’s DNA used for research on genetic disorders has the possibility to lead to medical breakthroughs. New remedies, medicine, or treatment strategies could be created. Also, possessing knowledge about what lies in an individual’s future is powerful and beneficial to the test taker. It could be argued that those two benefits outweigh the loss of privacy created from taking 23andMe.
The loss of privacy could result in an individual’s genetic information being used for research. This could possibly save lives and create treatment options for genetic disorders. The tests will give the participant a glimpse of their future of genetic health which has the potential to be beneficial. Under consequentialism, the positive outcomes outweigh the negative outcomes. On the other hand, taking 23andMe could cause unnecessary angst about the participant’s future state of health, breach the privacy of family members, and the genetic information and test results of the participant have the possibility to fall into the hands of others. Also, the personal and genetic information submitted to 23andme could fall into the hands of hackers, the government, friends, family members, and insurers. Each of those individuals could have positive or negative intentions or goals of what to do with the participants’ genetic and personal information. The participants’ DNA also has the possibility to be identified. Does DNA being stored anonymously really mean anything if the DNA can be re-identified and connected with the participants’ identity? There are more negative outcomes in this situation with long-lasting effects, so is giving up privacy really worth it?
DTC Creating More or Less Equality?
One major argument under the value of equality is that a wage gap would be created. Genetic discrimination could create a loss of jobs or insurance. This would have a major impact on individuals who rely on their jobs to support their family or their insurance to pay for medical bills. Individuals who have “perfect” genes, or genes without any negative mutations or predispositions to disease, will not be discriminated against and will keep their jobs and insurance while others will lose their jobs and insurance thereby creating a wage gap. It could also be argued that direct-to-consumer testing and genetic discrimination could create a further delay of equality between individuals. Discrimination as a result of home genetic testing would create a more unequal world and a new and more complicated form of discrimination. This form of discrimination would further delay the equality that many people seek today.
Utilitarianism supports the equality counter-argument. The path that would benefit the greatest amount of individuals would be to avoid taking home genetic tests. The risk of genetic discrimination and the number of people that it would harm outweighs the individual and familial benefits of direct-to-consumer genetic testing.
Many may argue that genetic discrimination is already occurring today. Genetic discrimination could be viewed as discriminating against individuals because of the expression of their genes, or their phenotypes. If genetic discrimination becomes as common as discriminating based on appearance, would it really change anything?
Many may also argue that genetic testing would create a more equal world. If many individuals begin to take these genetic tests, the scenario of a more equal world has the possibility to occur. Through genetic testing, individuals will discover that they are composed of more ethnicities that they were not aware of previously. They will most likely discover that they are composed of minority ethnicities. This would show that individuals who were originally different have similarities and some believe that this would eliminate discrimination all together and would create more equality.
Genetic discrimination is already occurring today because individuals are being discriminated against because of the expression of their genes or their phenotypes. Genetic testing would create a more equal world because individuals will find that they are all composed of similar ethnicities, especially minority ethnicities. On the other hand, a wage gap has the potential to be created. Individuals with perfect genes will not lose their jobs and insurance while others will because they have a certain predisposition or mutation which has the potential to create a wage gap. 23andMe could create a further delay of equality between individuals because it would give individuals more opportunities to discriminate against each other. Utilitarianism supports the counter-argument because the path that would benefit the most individuals would be avoiding taking 23andMe. The results of the tests also have the possibility to create a more unequal world and negatively impact participants and others around them.
Providing or Violating Autonomy?
Many may argue that taking the 23andMe test is a form of autonomy. Participating in a 23andMe test is a personal decision made by an individual to learn more about what lies in their genes. Is it truly a violation or act of autonomy if the individual chooses to participate?
It could also be argued that 23andMe is providing individuals with more autonomy because they are informed about their future state of health. This will give individuals more options about their future plan of action for their health because they are more informed and have more information about what genes they carry, mutations they possess, or genes that they might pass down to their children.
The dilemma of vaccinations relates to an individual’s decision to participate in direct-to-consumer genetic testing. Genetic testing is a personal decision to learn more about your genetic makeup. Earlier it was mentioned that these tests not only impact the participant, but they also impact their immediate families and distant relatives. Taking the test could result in other family members learning about what is in their genome, whether they want this knowledge, or not. There is a similar issue with vaccinations. A parent, or an individual when they become older, has the option to choose to have their child vaccinated. Vaccinations have the possibility to affect the individuals surrounding their child and their child themself. If an individual is not vaccinated, they could contract a disease such as the measles, or any other disease protected by vaccination, and spread this to other individuals at risk. The impact of one’s decision on the public is large in both scenarios, genetic testing and vaccinations. An individual’s decision to participate in direct-to-consumer genetic testing is not being directly compared to vaccinations. The comparison is truly about an individuals’ autonomy and their decisions as well as the impact that it has on the community and others around them. An individual’s decision on others can also be compared to COVID-19. If an individual has COVID and decides to leave their house and socialize instead of self-quarantining, they are spreading the virus and are putting others around them at risk. Similar to 23andMe, if an individual tests positive for COVID-19, they now have the knowledge to treat the disease and to self-quarantine. This knowledge is beneficial to that individual as well as others around them. However, if they socialize, they are knowingly spreading the virus. In comparison to 23andMe, getting tested for COVID-19 will reveal if an individual has a disease that is transmittable to others, but 23andMe reveals a genetic disposition that is not contagious.
23andMe is violating an individual’s autonomy indirectly. When individuals discover information about themselves through 23andMe, whether positive or negative, they have to consider their plan of action for their future health. These decisions that the individual makes could stem from taking precautionary measures, getting further testing done, or ignoring the test results. The results of the tests are impacting the decisions of the future test takers. It is also possible that the test results could cause unnecessary angst about the participants’ future. Having a predisposition to a genetic disorder or being a carrier for a mutation of a gene does not necessarily mean that the condition will develop or be passed onto children. Many individuals may take the results literally and worry about the possibility of developing a genetic disorder even though the possibility may still be remote.
“An experimental study of people who were tested for the risk of Alzheimer’s disease compared the experience of people who knew they carried a higher-risk variant with people who had the variant but didn’t yet know it. Participants who were told of their increased risk reported more memory problems and performed more poorly on objective measures of memory compared with those who were equally at risk but unaware of their status.”– Erik Parens, Ph.D., is a senior research scholar at The Hastings Center
The individuals that participated in the experiment above began to worry about their mental and genetic health shortly after their results were received. It is also possible that the results of these tests will not impact an individual and will not cause angst about their future state of health. If the results are reassuring, the individual may feel less angst about their future genetic health and health in general. The results given could also prepare individuals for the future, whether the results are positive or negative. They will either be watching their health to attempt to prevent these genetic disorders or they will not have to worry about them at all.
Also, the decisions that the individual makes based on their test results could not benefit in the long run because the results were false. Although 23andMe claims their results are 99% accurate, there have been many instances that question their level of accuracy. These inaccuracies result from a lack of thoroughness in testing and results being sent to the wrong individuals.
“In 2010, Dr. Pamela Munster mailed her saliva to 23andMe, a relatively new DNA testing company, and later opted in for a BRCA test. As an oncologist, she knew a mutation of this gene would put her at high risk for breast and ovarian cancer. She was relieved by the negative result. Two years later, after she learned she had breast cancer, she took a more complete genetic test from a different lab. This time it was positive. A study of 100,000 people released earlier this month suggested that this experience could be widespread. Nearly 90 percent of participants who carried a BRCA mutation would have been missed by 23andMe’s test, geneticists found.”– Heather Murphy, a general assignment reporter at The New York Times.
It was not disclosed which kit Dr. Munster purchased. The BRCA gene is one of the main and most shocking examples of lack of thoroughness in testing.
“‘That’s where I see potential downfall,’ says John E. Lee, program manager at the Genetic Counseling Clinic at Cedars-Sinai. ‘For the three variants they test for, they’re very accurate, but they’re not looking at the rest of the genes’ that can lead to breast or ovarian cancer. Lee says that finding a predisposition to a disease like breast cancer is much more complicated than essentially spell checking three pages in a 1,000-page book. Someone who comes from a line of women with breast cancer but who 23andMe shows does not have a BRCA mutation still needs further testing. In addition, the variants that 23andMe tests for are found almost exclusively in the Ashkenazi Jewish population. People outside of that group who test themselves for a BRCA mutation through 23andMe are unlikely to be told they have a dangerous mutation in the gene— but could still harbor one.”– Dorothy Pomerantz, former L.A. bureau chief for Forbes, is now managing editor at FitchInk, a boutique content firm
The excerpt above states that 23andMe tests for very few out of thousands of genes and factors that determine the risk of breast cancer. This information displays how little their test results are based off of. They are providing test results, saying that individuals are positive for this genetic mutation when they have only tested 3/1000 genes or factors that could determine their disposition for the mutation of this gene. It should also be understood by the consumer that these genetic tests should not replace regular doctors appointments or health screenings, especially if there is a history of family history of a specific illness or disease. It is stated on the 23andMe website that their tests should not replace regular doctors appointments.
In addition, there has also been a history of false positives in 23andMe:
“Our analyses indicated that 40% of variants in a variety of genes reported in DTC raw data were false positives. In addition, some variants designated with the ‘increased risk’ classification in DTC raw data or by a third-party interpretation service were classified as benign at Ambry Genetics as well as several other clinical laboratories, and are noted to be common variants in publicly available population frequency databases.”– Stephany Tandy-Connor, Supervisor, Cancer Reporting at Ambry Genetics
As a result of the lack of thoroughness in their genetic testing, participants are receiving false positives. False positives are a risk in any type of genetic testing, even with genetic counselors. False positives either cause the individual to feel unnecessary angst about their current state of genetic health and future state of their health or it causes them to spend more money to conduct the same test again. This information is communicated to consumers via the 23andMe website under the kit that they wish to purchase.
Taking the test is a form of autonomy because it is a personal choice. 23andMe provides individuals with more autonomy because they are informed about their future state of health which allows them to make more informed decisions. On the other hand, 23andMe is violating an individual’s autonomy indirectly.
The individuals are basing their future medical decisions on these test results which is an indirect violation of autonomy. Also, the lack of thoroughness in 23andMe testing could leave patients ill-informed about what genes or mutations they possess.
These future medical decisions could also be ill-informed or cause individuals to spend more money for no reason because of false positives. When an individual takes a test, they are also looking into their entire family’s genome. This results in their family uncovering what is in their gene pool and forces them to either make medical decisions or to ignore the results. Even though taking a 23andMe test is an act of autonomy, it has the possibility to also violate an individuals’ autonomy and leave them to make future medical decisions with false information. Should individuals allow their autonomy to be violated by participating in these tests only to find out that the results are false or incorrect?
Considering the ethical values and the stakeholders involved in the dilemma with 23andMe and genetic discrimination, I believe that completing a 23andMe test is not worth the possible ramifications and varied risks, with discrimination being one of them. Taking the genetic test has too many possible risks such as unnecessary angst about genetic health, disrupted family dynamic, genetic exploitation, genetic discrimination, loss of privacy, and finally, personal genetic information being sold to third party companies.
The important ethical values highlighted were privacy, equality, and autonomy.
Privacy has the potential to be violated while taking genetic tests and equality is in jeopardy because of genetic discrimination replacing the “old fashioned” form of discrimination. An individual’s autonomy over their future medical decisions is violated as well. Utilitarianism supports the argument against taking genetic tests because it would benefit the most individuals and leave the most individuals out of harm’s way. It would also protect the privacy of more individuals than if the genetic tests were taken.
Will these tests evolve to become even more or less of a threat to privacy, equality, and the mental health of individuals? I believe that these tests will evolve greatly in the years coming. As the tests continue to develop, so will their accuracy. Although the tests will improve and increase in accuracy, I do not believe that they will become the main or most used health screening tool. In my opinion, the health screenings performed by medical professionals will remain the most reliable. Although genetic counselors do work at 23andMe I believe that humans possess or will possess the ability to create genetic tests that have the capacity to provide more information about genetics. However, it is important to realize, with more information, comes a higher risk for loss of privacy. More information also creates the risk of increased unnecessary angst, less accurate testing and results, thereby creating a detriment to an individual’s mental health. I also believe that genetic discrimination will evolve to be the new form of discrimination and that creates the possibility of less equality in the world.
Will genetic discrimination be the new form of discrimination? There is a strong possibility that genetic discrimination will be the new form of discrimination because of the heightened test abilities that are likely to be developed in the future. Genetic discrimination could span from the outright discrimination against individuals with specific genes to discrimination of phenotypes, or simply the expression of one’s genes. An individual’s genetics relate to practically every aspect of their life which could create genetic discrimination affecting many facets of their life.
Will GINA prevent genetic discrimination? According to what was stated above, I do not believe that GINA will prevent genetic discrimination. There are too many loopholes in the act and there will be many individuals attempting to find ways around the act. I also believe that the act is very limited in what it has the ability to do or prevent. I believe that GINA should have more titles addressing genetic discrimination related to education and make guidelines more clear about what GINA protects and does not protect.
The only foolproof avoidance strategy of loss of privacy, violation of autonomy, and genetic discrimination is not taking genetic tests. Leaving the information hidden in an individual’s genes isn’t negative; people have done it for centuries. If an individual’s genetic information is not public, it is impossible to be genetically discriminated against. It is almost impossible to know what lies in an individual’s genetic information while keeping their genetic profile private. Even when testing with a genetic counselor, there is still a possibility that their database could be leaked or hacked. Another prevention strategy is to opt out of the 23andMe test to participate in testing and research. This removes an individual’s genetic information from the potential DNA research done with these genetic test results, however; the risk is not completely eliminated. There is still a possibility of a participant’s information being hacked, sold to a third-party, or requested for by the government. Another possible prevention strategy to genetic discrimination is to be familiar with the fine lines and the narrowness of GINA. This way, they will not opt into something or create a situation in which they are not protected by the act. The choice of whether to participate in these direct-to-consumer genetic tests is now yours. Think twice before completing these tests and remember that ignorance can be bliss.