DNA Testing

Collecting DNA Sample ("Spit Test")

DNA testing, otherwise known as genetic testing, refers to the acquisition and analysis of DNA for academic, clinical and commercial purposes. Purposes of DNA testing include:

1. predicting or diagnosing genetic diseases and drug responses,
2. identifying predispositions toward specific behaviors,
3. selectively breeding plants and animals to develop desired characteristics, and
4. determining ancestry or paternity among people.

DNA samples can be acquired via hair, skin, amniotic fluid, blood, and cheek swab samples though test recipients must provide informed consent unless requested by law enforcement or requested by a judge . Medical practitioners (i.e., doctors, genetic counselors, technicians) can utilize DNA sequencing to identify specific mutations and abnormalities in an individual’s genetic makeup. Ethical implications of DNA testing include the lack of secuirty or sale of DNA data to third parties without the consumer's knowledge, as well as the potential abuse, misuse or misinterpretation of DNA data.

Commercial Use (Direct-To-Consumer)

Genetic genealogy and/or personal genomic companies - like Ancestry.com and 23andMe - have recently become popularized, advertised as a way to get to know your family history and yourself by extension. The first widely prominent genetic testing kit was by ancestry.com, and other companies, such as 23andMe and EverlyWell, have followed suit. Some DNA testing kits include very specific details such as allergy testing, genetic disease risk analysis, and stool sample testing, among others in addition to their ancestral history. These privately held companies provide consumers with access to DNA testing so that they are no longer required to ask a healthcare professional to order the test for them, should they so desire. This kind of service has been popularized to a point where it is not unusual to receive or present a DNA testing kit as a gift.

Direct-to-consumer (DTC) DNA testing may encourage individuals to be more proactive with respect to their health and well-being and is often less expensive than the alternative, which is genetic testing through a healthcare professional. However, DTC genetic testing is not considered to be diagnostic, in that “it cannot be used to diagnose any disease or a condition." Therefore, consumers run the risk of making “important decisions about disease treatment or prevention based on inaccurate, incomplete or misunderstood information from their results." Ultimately, experts maintain that DTC genetic testing is not as comprehensive as genetic workups ordered through healthcare professionals, and therefore, should not be used for "anything beyond entertainment". Furthermore, a study from Ambry Genetics analyzed how accurate direct-to-consumer tests are and they found out that of every five samples sent to them to confirm the result (confirmation testing) two of them were false positives. This lack of accuracy can put people using these genetic tests through unnecessary stress and anxiety because the receive unexpected, possibly life-changing, information just to be told that the results were a false positive.

23andMe's Genetic Testing Kit

Moreover, consumers commonly do not understand the privacy policies of these private DTC genetic testing companies. This becomes an issue, seeing as there are numerous risks to sharing personal genetic information. It is important that consumers question how their genetic information is handled by DTC companies (i.e., safe handling of DNA samples, secure data storage, etc.) and how it is being protected. When choosing a company, consumers should also consider the extent to which their genetic information is protected from the following: changes to privacy policies, the demise of the business, malicious actors (hackers), and/or the sales to third parties. According to Newstex Global Business Blogs, “In July, 23andMe announced a partnership with GlaxoSmithKline through which the pharmaceutical company will use home DNA results from 23andMe's 5 million customers for new drug research. Users are provided a link to opt out of the research, however, users who are unaware of this policy change are at a disadvantage of being able to decide if they want their information included in the study .These customers often do not realize that by sending a DNA sample to 23andMe, they allowed the company to profit off of their genetic information. Law enforcement agencies have also been pressuring companies into sharing genetic information via warrants and court orders. However, multiple DTC genetic testing companies like 23andMe often try to resist requests from law enforcement through legal practices and refrain from posting information on to public databases to prevent law enforcement officials from accessing the information. It is evident that consumers lack control in regards to their genetic information and rarely anticipate these types of situations taking place.

The Need for Oversight

Many critics believe that government regulation and oversight of private DTC genetic testing companies is lacking. The Genetic Information Nondiscrimination Act (GINA) is the only existing law that addresses this concept of genetic privacy. There are concerns among privacy experts regarding GINA’s narrow scope, which is limited to prohibiting health insurance companies and employers from exploiting an individual’s genetic information. As a result, health insurance companies cannot deny coverage based on an individual’s genetic information. In addition, employers cannot consider genetic information of an individual when making decisions (i.e., firing, hiring, promotion). Users who take the DNA test kits still have to be cautious and aware of the fact that companies may disclose the results since based on certain results, insurance prices could increase by asking for this prevalent information. Without sufficient regulation, we may find ourselves under “genetic surveillance”. As described earlier, law enforcement (and governmental organizations) have conducted searches of DTC databases of genetic information, all without the knowledge or consent of the clients.

Moreover, the insufficient regulation of DTC companies has allowed for poor maintenance of data, which reflects a failure to effectively “de-identify” genetic information with more than the simple removal of the individuals' names and addresses. Research suggests that it is still “possible to discover a study participant’s identity by cross-referencing research data about him and his DNA sequence… [with] genetic genealogy and public-records databases.”

Additionally, the exploitation of an individual’s genetic information can be attributed to the absence of a definition of its legal “owner”. This notion mirrors Floridi’s ownership-based interpretation (with respect to the value of informational privacy), which argues that “a person is said to own his or her information (information about him- or herself). Should this be resolved, and the consumer (the individual who provides the DNA sample) is determined as the legal owner of his or her own genetic information, DTC genetic testing companies would likely have a more difficult time abusing or exploiting the information.

Ethical Implications

Lack of Scientific Backing

23andMe's original launch included the results of their testing for predisposed genetic conditions. While it is true that genetic markers for these conditions exist, lifestyle also contributes a very significant amount to this risk which 23andMe did not and could not factor in telling the risk of genetic conditions to the users of their genetic testing kits. These companies are part of a growing trend of growing trend to personalized medical care which uses DNA to tailor treatments to an individual patient's needs. However, there is little research in this particular area and scientists are years away from being able to use a patient's DNA to affect their health care.

Group Disparities

In the U.S. and Europe, those with European ancestry are more likely to get their DNA tested . This results in more accurate and precise data for these people, even if non-European people pay the same price for a given DNA test. This is ethically challenging because it disadvantages groups of people by possibly giving them vague or erroneous information, which can lead to health complications, feelings of ambiguity with their identity all while paying the same amount for fewer benefits.

The use of race in genetic testing is controversial, given it can be personally identified, phenotypically determined, genetically demonstrated, and more. All of these ways to determine race have flaws in themselves, and race with a biological basis has been debunked. A person could identify as a certain race despite not being engaged in that culture or facing the discrimination traditionally and historically felt by a population when using self-identification. Phenotypes (expressed physical traits) and genetics are also controversial because genes and traits can be attributed to several groups of people, and in cases of people with mixed-races the cut-off for the qualification within a race is unclear.

Genetic Discrimination

Genetic discrimination is defined as institutional discrimination characterized by the refusal or approval of certain individuals to qualify for certain health-related assistance programs based on their genetic genotype health risks. Insurance companies and private employers are more motivated to make decisions based on associated diagnosis of a genetic abnormality found in an individual's genotype than the actual state of the individual's health, which can limit the access of healthcare related opportunities for individuals with a genome containing health risks.

Prenatal Genetic Screening

Today it is commonplace for pregnant women or couples trying to conceive to consult genetic counselors throughout the pregnancy process in order to gain insight into the genetic predispositions or conditions their future child may or may not be at risk of having. During the first trimester, the most common genetic tests that women elect to undergo are Chronic Villus Sampling (CVS), which samples from placental tissue, and Amniocentesis, which samples from the amniotic fluid surrounding the fetus. Despite the differences in terms of methodology and associated risk of miscarriage between these two invasive prenatal genetic tests, both can detect chromosome abnormalities in the fetus. Therefore, both CVS and amniocentesis can reliably identify trisomy 21, or Down Syndrome. Often, pregnant women over 40, who naturally have a higher risk of having a child with Down Syndrome, choose to conduct one of these two screenings early on in their pregnancy. However, the ethical uncertainty surrounding prenatal genetic testing arises with the occurrence of a positive test result, which would indicate the presence of a chromosomal abnormality, such as trisomy 21. Though some see this test result as an opportunity to provide parents with additional time to prepare and adjust to the knowledge that their child will have Down Syndrome, in reality, an estimated 67-85% of fetuses diagnosed with Down Syndrome in the United States are aborted. In fact, in certain European countries where prenatal genetic screening is used with pregnancies more universally, such as Denmark and Iceland, very few if any children are born with Down Syndrome each year. Strong critics consider this to be a form of eugenics and/or genocide. Though this clearly prompts an entirely different conversation and debate, the direct link between prenatal genetic screening to abortion and the eradication of the Down Syndrome population demystifies the controversial nature of the practice.

Security

The potential for the tracing back to or the identifying of the individual (from their genetic information) remains a significant ethical issue that casts a large shadow over DTC companies. According to Wired, “more than 60 percent of Americans with European ancestry can be identified through their DNA using open genetic genealogy databases, regardless of whether they’ve ever sent in a spit kit.” Genetic databases are so large that it no longer matters if an individual has willingly submitted a DNA sample, he/she can still be identified. If a genetic database was hacked, the personal genomic information can be compromised and/or abused for malicious purposes. This could result in our data and genetic information being used against us without our knowledge or involvement. However strange this may seem, this is a legitimate risk of DNA testing.

Accessibility

Though genetic testing is becoming more accessible, widely used, and affordable, it remains relatively expensive. Though it varies by specific test, the cost of a DNA test can range from $100 to over $2,000, which prompts the question: is accessing information related to personal genetic makeup a right, or a privilege reserved for those with the finances necessary to pay for genetic testing?

Privacy

The protection of informational privacy, according to Norman Mooradian, is crucial for a functioning society. On an individual level, an intrusion of privacy limits one's ability to form and maintain relationships. He explains, "individuals need to be able to control or restrict access to themselves and the spaces in which they conduct their relationships. If they do not have such control, they may be unable to engage in the behaviors constitutive of the specific kind of relationship ." Ultimately, if DTC companies fail to respect the informational privacy of its consumers, and genetic information were to become available to the public, government or private companies, we would likely see a breakdown of trust in relationships and in institutions.

Protecting Consumer Data

A major issue that arises when dealing with DNA testing and large amounts of people's genetic data is that it is easy to lose control of where this data it is going and who is using it. In 2018, 23andMe and one of the world's biggest pharmaceutical companies GSK signed an exclusive agreement that allowed GSK to gain access to all of 23andMe's 5 million users' data. In a case such as this, the consumers who had decided to use 23andMe's services just to gain a better understanding of potential health complications had no idea that their data would be sold on to another firm, and subsequently lose control over who their data was going to and what its ultimate use was going to be.

Autonomy

Individuals who choose to participate in DNA tests are faced with an ethical decision when they retrieve their results. When testing for malignant genetic mutations, if revealed to be a carrier of these genes they struggle to balance autonomy and responsibility. For participants who are told they hold diseases that are easily passed down through generations, they have the responsibility to inform their kin of this information so they can act accordingly. Autonomy opposingly grants individuals the right to choose whether they want to be informed about their genetic information revealed through DNA testing, and make decisions based upon it without interference by others. The risk who not only participants but their relatives face when deciding to receive or act upon DNA test results is an ethical dilemma in itself.

Transparency

DNA testing technology along with the collection of data poses a problem when doctors have related patients. People whose relatives share the same doctors are often concerned about their DNA test results being shared. The concern stems from the belief that their privacy is compromised. There is a conflict between whether or not to share results because a patient can possibly benefit from knowing information about their relatives DNA results. The battle over disclosing this information to other family members and compromising privacy, and even anonymity, is an ethically grey area that can only be dealt with through legislation.

Digital Bodies

The concept of "Digital Bodies" is one that was introduced in a preprint chapter of "Routledge Handbook of Physical Cultural Studies" written by Deborah Lupton, a faculty member of Arts & Design at the University of Canberra. In it she discusses the increasing emergence of digital technology as a means of depicting, representing and storing information regarding the human body. She describes the concept of a digital body as the modern day cyborg, "whose data outputs possess commercial, managerial and research as well as person value and status to a range of actors and agencies beyond the individual". DNA testing is among one of the many ways in which humans are now being represented digitally, and this has caused numerous concerns regarding personal privacy and health data.

Lack of Transparency

Genealogy sites help birth or biological parents find their children that they placed for adoption based on DNA testing results. Testing sites like Ancestry, 23AndMe and the MyHeritage are looking into more options to allow for biological parents to find their adoptees. A woman by the name of DeAnn Link is searching for her daughter who would be 7 years old as she is 23 years years old and put her baby up for adoption at 16 years old. She searched on LinkedIn, Google, and websites that allow birth parents and adoptees to register with contact information. However, the years of searching were pointless as she had no luck finding her daughter. Recently, Link opened an account on Ancestry.com and she is waiting on the next steps to submit her DNA so it can potentially match other DNA results that were submitted to the site. Interestingly, Adopted.com has been helpful with connecting adoptees and biological parents connect. Not everyone disconnected from their biological parents wants to be found. Linze Rice was contacted by her biological father in 2018, but she wasn't aware that her stepfather wasn't her biological father. She found out that he actually adopted her and felt no need to meet the biological father as she didn't lack a father figure. In other words, there are some people who don't want to be found as they are satisfied with their life.

See also

• Ancestry data
• Genealogy platforms