Forbes and Fifth

Ethical and Privacy Issues with Pediatric Genetic Testing


            Genetic testing has become a popular commodity in recent years, especially when one considers clinical genetic testing, as well as easily accessible direct-to-consumer genetic tests. While the information obtained from clinical testing does not largely differ from direct-to-consumer testing results, clinical results are typically more precise, and a greater number of privacy and ethical concerns surround direct-to-consumer tests. Still, privacy concerns exist for all participants whether they seek medical or direct-to-consumer testing. Basic medical ethics principles serve as a moral backbone in supporting genetic testing in clinical contexts. At the same time, these principles do not guide policies and practices for at-home genetic tests. Pediatric genetic testing further complicates the picture because it poses even greater challenges for privacy and ethical considerations. Taken together, parents’ decisions to test their children for genetic factors using direct-to-consumer methods are particularly concerning, whether that be for ancestry or health-related purposes. Using U.S. federal privacy laws, scholarly articles and studies, direct-to-consumer privacy policies, and basic principles of ethics, I argue that clinical pediatric genetic testing possesses a higher degree of validation compared to direct-to-consumer genetic testing and offers substantially greater privacy protections. Therefore, when a child’s health is genuinely compromised and genetic testing is in the best interest of the child, the benefits of clinical testing outweigh any consequences. Conversely, direct-to-consumer genetic testing not only lacks support from medical organizations but also lacks useful medical benefits to children, further suggesting that the maximal benefit and minimal harm generated by pediatric genetic testing occurs in a clinical setting.


Direct-to-consumer genetic testing companies changed the genetic testing landscape by conveniently making genetic information available to people without leaving home. Consumers swab the inside of their cheeks to collect a DNA sample at home, then mail their sample to a laboratory for analysis. On the other hand, those curious about their genetic information may seek advice from a physician or genetic counselor instead. Healthcare professionals can order specific genetic tests for medical purposes and review the results with the patient. Genetic tests can uncover an individual’s ancestry, disease susceptibility, and supposedly a child’s creativity level. However, mere access to such powerful information may not have transparent benefits without professional guidance and support.

Scholars raise privacy and ethical concerns about genetic testing on children in both medical and nonmedical contexts. Commonly, adults worry about employers and insurance companies using health information as a basis to discriminate. Insurance companies may raise rates on individuals requiring more healthcare, which could also raise employers’ health insurance rates. Additionally, employers may think that individuals with health conditions may be less efficient workers and find ways to eliminate those workers. On top of discrimination, genetic testing may harbor a child’s future if the results indicate unfavorable genetic conditions. Depending on how a family reacts to grim testing results, a child’s future plans related to their academics, intended career, and extracurricular activities may be altered. Pediatric genetic testing also raises issues regarding both parents’ informed consent as well as a child’s assent. Though there are drawbacks, certain circumstances justify genetic testing on children regardless of ethical and privacy concerns. The circumstances need to generate substantial benefits that outweigh any unwanted consequences. Clinical genetic testing differentiates from direct-to-consumer genetic testing and possesses a higher degree of validation because there are fewer privacy concerns, increased regulation, and healthcare professionals have a duty to act in the best interest of the patient.

First, the current privacy laws that protect genetic information will be defined. Basic medical ethics can then introduce some of the moral principles that healthcare providers and parents should consider when making medical decisions for children. Next, clinical pediatric genetic testing recommendations identified by various medical organizations will be explored, followed by evaluations of direct-to-consumer genetic testing. Lastly, scholars’ ethical concerns with pediatric genetic testing will be discussed.

Current Privacy Safeguards

In the U.S., few federal laws regulate the sharing of individuals’ information. Under the Privacy Act’s “No Disclosure Without Consent” Rule, agencies are not permitted to release an individual’s records unless the person grants the agency authorization.[1] This rule applies to health records, and thus protect an individual’s genetic testing results stored in a health record. However, the Privacy Act outlines twelve exceptions for disclosing information from a record. For example, records may be disclosed to those who “need to know” within an agency, the Census Bureau, law enforcement upon request, or Congress.[2] Since there are possible instances for records to be released, genetic data in a health record is not protected. Luckily, other policies exist that further protect genetic information in health records.

            Discrimination in the workplace and for insurance purposes are major concerns of protecting genetic testing results. The Genetic Information Nondiscrimination Act (GINA) of 2008 prohibits employers and health insurance companies from using genetic information “to fail or refuse to refer for employment, or otherwise to discriminate against,” “to limit, segregate, or classify individuals,” or “to cause or attempt to cause an employer to discriminate against an individual in violation of this title.”[3] GINA applies to both genetic information stored in health records as well as genetic information obtained from consumer testing. GINA adds a layer of security to genetic testing by preventing the results from being used as a basis to discriminate. Children do not have an opportunity to be discriminated against in the workplace, but genetic information never changes. By the time an individual enters the workforce, their genetic information could potentially be used as a basis for discrimination. GINA alleviates concerns about the possible employer and insurance discrimination. However, GINA lists a few exceptions where employers may request genetic information from an individual. Genetic information may be requested, required, or purchased by an employer if the health or genetic services are offered by the employer, or if the employer requires medical history for their own purposes.[4] Additionally, employers may obtain aggregate genetic information as long as the identity of the tested individual or family member is not disclosed.[5] Obtaining aggregate data may be problematic if genetic information inadvertently gets linked to an employee. In the worst possible scenario, employers may find other reasons to fire an employee if the relevant health condition(s) raises the employer’s insurance or other costs. Though there is a slim possibility of genetic information being tied back to an individual, GINA protects against a common concern for adults and the future workforce. There is an additional safeguard that applies to all health records, which provides another layer of protection to health information: the Health Information Portability and Accountability Act (HIPAA) protects health information in a health record from being shared with other entities or for unnecessary purposes.[6]

            HIPAA’s protection standards alleviate privacy concerns regarding clinical pediatric genetic testing, but not for direct-to-consumer testing. Direct-to-consumer testing results are not stored in a health record, so HIPAA does not apply. HIPAA protects an individual’s health records from employers or insurance companies, thus barring the potential for genetic discrimination. 3 Similar to GINA, HIPAA’s privacy protection is not absolute. Under HIPAA’s Privacy Rule, there are six reasons health information may be released without the individual’s consent. Health records may be disclosed to the “individual” for treatment, payment, and healthcare operations; by informally asking the individual if their information can be shared with a named entity; in an incident that discloses the minimum amount of information necessary while following reasonable safeguards; in the public’s interest and benefit, such as to law enforcement; and to a Limited Data Set for research, public health or health care operations.[7] Though there are exceptions to disclosing protected health information, the exceptions describe specific circumstances where disclosure will likely not harm the individual, or where disclosure benefits the greater good of society. In conjunction with each other, the Privacy Act, GINA, and HIPAA provide a strong level of privacy protection for genetic information stored in health records.

Medical Ethics

The Convention on the Rights of the Child outlines basic children’s rights, and these rights apply to healthcare services. The four principles of the Convention include “non-discrimination, devotion to the best interest of the child, the right to life, survival, and development, and respect for the views of the child."[8]  Further, healthcare providers should practice medicine while keeping the four key principles of medical ethics in mind: justice, beneficence, nonmaleficence, and autonomy of the patient.[9] Each set of principles go hand in hand; for example, delivering justice as a physician means treating each patient the same, regardless of their social or genetic determinants. When deciding if genetic testing on a child is appropriate, both sets of principles serve as providers’ moral standards.

If two or more of the aforementioned principles conflict when determining the addition or withdrawal of treatment, healthcare professionals should utilize six criteria for infringement of prima facie principles: changing treatment may be suitable when better reasons exist to act on the overriding norm rather than on the infringed norm; there is a reasonable chance of success; the treatment is a last resort, and the infringement is necessary; effort is made to minimize the infringement; effort is made to minimize effects from the infringement. The infringement is chosen impartially to all affected parties.[10] Genetic testing yields objective results, which physicians can then use to make treatment decisions with more certainty. In situations where a family interferes with treatment decisions, the results provide concrete information for physicians to add, change, or withdraw treatment without familial opinions clouding their decision process. In addition to using ethical principles in making decisions regarding genetic testing, physicians may also follow recommendations from medical organizations.

Genetic Testing for Medical Purposes

Pediatric patients gain access to genetic tests for medical purposes from physicians or genetic counselors. A variety of medically related genetic tests exist. Most commonly, pediatric patients undergo newborn screening, diagnostic testing, carrier testing, and testing for late-onset conditions.[11] Newborn screening is utilized more frequently because the results address whether a child has a genetic disease that can be treated early in life.[12] Diagnostic testing identifies a specific allele or a specific genetic code for a particular disease.[13] Carrier testing helps providers spot alleles that may cause disease when both copies are present, but not necessarily with only one copy.[14] Predictive or pre-symptomatic testing reveals if a child carries a gene for diseases that may develop later in life, such as the BRCA gene linked to breast cancer.[15] Genetic testing results aid providers in improving a child’s health outcome and help guide a family in making necessary lifestyle changes. The American Academy of Pediatrics (AAP), American College of Medical Genetics (ACMG), the American Society of Human Genetics (ASHG), as well as several other medical organizations, outline appropriate conditions for the different types of genetic testing that can be performed on pediatric patients.

            The AAP, ACMG, and Secretary’s Advisory Committee on Heritable Diseases in Newborns and Children support newborn screening for 29 primary targets identified by the ACMG.[16] Certain circumstances increase the usefulness of pediatric genetic testing to such a large extentthat obtaining informed consent from parents is not required in all states.[17] Notably, rapid genetic tests for newborns in intensive care units yield the highest clinical utility compared to ordinary genetic tests.[18] Results for rapid tests return much quicker than traditional sequencing, which increases the tests’ usefulness in dire situations. Gyngell et al. examined the usefulness of rapid genetic tests for NICU patients and raised a few ethical concerns. Gyngell et al. support rapid genetic testing for NICU patients due to the test’s ability to identify and rule out rare genetic disorders, as well as its ability to quickly guide providers towards a treatment for ill newborns.[19] Medical professionals have recognized the usefulness of rapid newborn genetic testing for a few decades. In 2001, the AAP’s Committee of Bioethics suggested that states should mandate the offering of newborn screening tests.[20] However, Gyngell et al. raise concerns about obtaining consent from parents who recently gave birth, possible child-caregiver bonding compromises, and the distribution of health care.[21]

            When survival is on the line, the time it takes to explain genetic testing and allow new parents to think through a decision could instead be allocated towards saving the newborn’s life. Parents who recently gave birth may feel distraught and not have a clear decision-making capacity to give informed consent. Additionally, the ASHG found that “Although all state programs provide information to parents about NBS, usually in the form of a brochure, the literature shows that most parents do not read this information.”[22] Waiting to obtain informed consent may prolong the initiation of life-saving treatment, and consent may not be fully informed. In this case, it may be worse to withhold the newborn from genetic testing if the results quickly pinpoint a treatment. Another issue raised by Gyngell et al. is that the results from the test may impact parents’ relationship with their newborn if the results reveal their child has a genetically linked disease.[23] The child and parents may not form as close of an emotional bond, possibly affecting the child’s epigenetics. Many genes are turned “on” and “off” during nurturing early in life, which can affect the individual’s behavior later in life. If a newborn is in the ICU, parents have a limited opportunity to personally nurture their child. Diagnosing and treating the newborn gives the newborn a greater chance to be released from the ICU and be nurtured by their caregivers. Similar to other types of testing concerns, a newborn’s open future, meaning their potential plans related to academics, careers, or other engaging activities, may be compromised depending on a family’s reaction to a set of results. However, a newborn’s future may already be compromised if their declining health status landed them in the NICU. Withholding genetic testing may lead to worse health outcomes for a NICU patient; therefore, the benefits of newborn screening outweigh these possible consequences.

            Though rapid genetic testing on newborns yields high clinical utility, children who did not undergo newborn screening can still benefit from genetic testing during childhood. The AAP and ACMG released a joint policy statement on pediatric genetic testing in 2013. Though the ASHG released a separate position statement in 2015, all three organizations take similar stances. The AAP and ACMG’s policy states that decisions regarding genetic testing should be made in the best interest of the child, which aligns with standard medical ethics and the Convention on the Rights of the Child.[24] The AAP and ACMG support diagnostic genetic testing on children with suspected genetic diseases upon obtaining parental informed consent and preferably the child’ assent.[25] The consent of a minor is called assent. The ASHG supports diagnostic testing for a single gene or a panel of genes based on the patient’s symptoms.[26] Both policies imply that diagnostic testing is not recommended for asymptomatic children.

            While all three medical organizations support diagnostic testing, they view carrier and predictive testing differently. Carrier and predictive testing have a greater potential to create unnecessary anxiety for asymptomatic children and their families. The AAP and ACMG bluntly state they do not support pediatric carrier testing, but the ASHG “neither recommends nor discourages offering carrier testing to adolescents who desire such testing in the setting of a positive family history,” as long as the relative potential benefits outweigh any negative consequences.[27], [28] The ASHG supports their position by citing small-scale studies, which analyze psychosocial outcomes from carrier testing. The studies did not find an increase in anxiety after learning of carrier status.[29] The medical community continues to debate appropriate stances on carrier testing. Predictive and pre-symptomatic testing for adult-onset genetic diseases is less debated by the AAP, ACMG, and ASHG. Both statements recommend that minors wait until adulthood to undergo predictive testing unless there is a possible childhood intervention for an indicated disease.[30], [31] In consideration of the minor and/or the family’s anxiety, each policy takes a slightly more accepting position on predictive testing. Both policies stress that the psychosocial benefit needs to outweigh any negative consequences to test for adult-onset conditions.[32], [33] While the ACMG jointly released pediatric genetic testing recommendations with the AAP in 2013, they released a separate statement on reporting incidental findings the same year.

The 2013 ACMG policy statement regarding whole genome sequencing recommends disclosing incidental findings for 56 possible disease markers.[34] The number of disease markers increased to 59 in a more recent update in 2016.[35] The ACMG’s stance on reporting incidental findings has sparked debate within the community. Whole-genome sequencing provides more information on pertinent negatives and diagnoses compared to an analysis consisting of a single gene or a set of genes. Another benefit from whole-genome sequencing is that knowledge of a child’s genetic disposition and susceptibility may catalyze lifestyle changes, which could improve a child’s health outcome. However, if a family only has an interest in testing for a few possible diseases, incidental findings may feel overwhelming. A child’s open future has a greater risk of diminishing under the ACMG’s policy. Chung and Hardart, neither of whom have a conflict of interest with either organization, analyzed the ACMG’s separate policy in an article published in the journal Pediatrics. They argue that “the ACMG arrogates the authority to make this determination by mandatorily including these tests whenever genomic testing is performed. This usurpation of parental authority is problematic, considering the highly variable contexts in which decisions such as this are made.”[36] Disclosing unexpected results may compromise a child’s future plans if the child was asymptomatic for the indicated genetic disease. Children may feel hopeless, especially if there is no known prevention or treatment for the disease. This could lead to mental health issues that may have not otherwise developed. Other medical organizations take a different stance on disclosing incidental findings compared to the ACMG.

The ASHG approaches the complex issue of disclosing incidental findings by categorizing their recommendations based on the severity of testing results. First, ASHG recommends that parents fully understand that the decided genetic test may reveal secondary findings.[37] The ASHG’s stance respects a family’s autonomy by respecting parents’ desire to not know secondary findings. These parents likely support their child’s open future and are only interested in the few diseases their child shows symptoms for. In the event of secondary findings, the ASHG recommends that healthcare professionals only disclose information that “has clear clinical utility for the child and/or his or her family members.”[38] They take a stronger stance when results indicate a life-threatening condition, in which they recommend the healthcare professionals disclose the results to the family, regardless of the family’s wishes.[39] Serious medical conditions will compromise a child’s health and future, so disclosing life-threatening incidental findings is in the best interest of the child. Children already diagnosed with medical conditions may undergo genetic testing when the children are suspected to have additional underlying medical conditions.

Commonly, physicians will order genetic tests for children with autism spectrum disorder (ASD) because those affected by ASD have an increased risk of having co-morbidities.[40] A study conducted by Zhao et al. discusses and analyzes the results of a survey which gathered parental opinions on their genetic testing experience for their child with ASD or who was suspected to have ASD. The authors stated they have no conflict of interest, and that all procedures followed the ethical standards of the 1964 Helsinki declaration. The study was published in the Journal of Autism and Developmental Disorders, which has no affiliations in genetic testing industry. Zhao et al. argue that testing children who have ASD or who are suspected to have ASD leads to better health outcomes, reduces parental anxiety, helps parents in planning their family if they want to expand, and avoids unnecessary medical visits.[41] The results showed that 62.4% of respondents felt either very satisfied or satisfied with ASD genetic testing.[42] The survey results provide concrete reasons for satisfaction, which include

 (1) [they] contributed to scientific knowledge (61.8%); (2) played a role in future reproductive decisions (19.1%); (3) helped with treatment planning for the child(ren) with ASD (16.2%); (4) helped gain a better understanding of the child(ren)’s strengths and weaknesses (11.8%); (5) assisted to explain to other people that the child(ren)’s behavior was the result of a medical condition (10.3%); and (6) provided an explanation for the condition of the children with ASD (10.3%). (4826).[43]

Based on Zhao et al.’s survey, satisfied parents felt the benefits from the test outweighed any negative consequences they may have faced, which supports clinical pediatric testing on children with ASD.

            Conversely, 37.6% of respondents did not feel satisfied with testing their child, suggesting that improvement is necessary to achieve greater utility from medical genetic testing.[44] From the survey responses, 53.7% of parents who felt dissatisfied reported that genetic testing did not lead to better treatment for their child’s condition, and 51.2% reported that there was no change in the family’s lifestyle after testing.[45] On the other hand, this idea suggests that 48.8% of dissatisfied respondents did make a change in their lifestyle after testing. The significance of the testing results is that families may use this information as a guide to change their lifestyles. Zhao et al.’s study also found positive correlations between parent demographics and their satisfaction level, which is important for understanding the usefulness of tests nationwide.[46] Understanding health information is only one aspect of health care, and the correlation found in Zhao et al’s survey suggests that more effort needs to be placed in healthcare systems in lower socioeconomic areas. If no health inequities existed, then no correlation between demographics and satisfaction level would exist. If there were a universal level of understanding of test results and accessible interventions for all, then the utility of genetic testing for children with ASD would increase nationwide. Despite parental dissatisfaction, the greater rate of overall parental satisfaction supports genetic testing on children diagnosed with ASD, or on children suspected to have ASD.

There is no defined value placed on pediatric genetic testing for medical purposes. Testing circumstances, as well as the usefulness, range broadly. Greater pressure on healthcare professionals to find pertinent positive or negative results increases the test’s utility. Physicians unable to diagnose symptomatic children may turn to genetic testing if other routes of diagnosis have been exhausted, if the test is in the child’s best interest, and if the physician upholds the four basic principles of medical ethics. Testing for late-onset conditions and carrier genes is not recommended until the child is of the legal age of consent, unless the benefits of testing, such as relieving familial anxiety, outweigh the negative consequences, such as diminishing a child’s open future. Clinical pediatric testing greater withstands critical views than subjecting children to direct-to-consumer (DTC) genetic testing. DTC testing companies lack medicine’s ethical backbone and sturdy protection of health information.

Direct-to-Consumer Testing

            Advancements in technology have allowed millions of Americans to obtain genetic and ancestral information without guidance from medical or genetic professionals. Consumer testing companies have connected family members through their ancestry services. In a TED talk interview, a mother told a heartwarming story about how her 17-year-old adopted daughter found her birth father through a DTC testing company.[47] The daughter connected with her birth father’s second cousin, leading her to finally contact her birth father.[48] Familial matching serves as one purpose for DTC companies to store users’ information in large databases. Law enforcement also has access to databases owned by DTC companies, with a particular interest in genetic information deemed useful to solve crimes. For example, the Golden State Killer case was solved after California law enforcement uploaded the suspect’s DNA to GEDmatch and traced him through family members.[49] Users acknowledge that law enforcement may access their information when they agree to most privacy policies. A quick search on Google brings up dozens of similar stories of finding unknown family members or resolving cold cases, shining a light on the consumer genetic testing industry. However, utilizing this type of testing under lesser-importance circumstances may not justify an individual losing authority over their personal information. Unfortunately, the DTC industry is not as heavily regulated as clinical genetic testing, raising privacy concerns.

            Information retained by direct-to-consumer genetic testing companies is not subject to the same laws protecting health records. The DTC genetic testing industry is regulated by three federal agencies: The Centers for Medicare and Medicaid services through their Clinical Laboratory Improvement Act (CLIA); the Federal Trade Commission under the Federal Trade Commission Act of 1914 (FTC); and by the Federal Food and Drug Administration (FDA).[50] The CLIA outlines standards regarding the validity of tests, however the Centers for Medicare and Medicaid services cannot assess the clinical validity of DTC tests because DTC companies lie outside the scope of the CLIA.[51] At best, the DTC genetic testing companies may use CLIA guidelines as a consideration, but are not required to uphold testing standards by law. The FTC monitors healthcare products for false or misleading advertising, and their regulations do apply to direct-to-consumer companies.[52] Lastly, FDA regulations apply to the health-related tests offered by DTC companies, not ancestry or family relationships tests.[53] In addition to federal regulations, multiple medical organizations have made recommendations regarding direct-to-consumer genetic testing.

            The ACMG, and the ASHG have released short statements regarding their position on DTC genetic testing. In 2007, The ASHG released a policy statement outlining multiple requirements for DTC health screening, and the ACMG released a similar policy statement in 2016. Both the ASHG and ACMG recommend that the chosen DTC company utilizes a CLIA-accredited or similarly-accredited lab; the consumer should fully understand how to interpret the test results and the scope of the test’s prediction; the validity and utility of the test based on scientific evidence should be stated; and consumers should have full informed consent regarding the privacy of their collected information.[54], [55] Additionally, the ACMG recommends that the consumer should consult a genetics expert before and after testing.[56] Currently, not all DTC companies uphold ASHG or AMCG recommendations. The DTC testing industry is profit-driven and self-regulating, with limited government regulation. While consumers choose to order DTC testing kits, the privacy risks associated with DTC genetic testing may not be apparent upon purchasing. Despite regulations, the Department of Defense advises military personnel against using direct-to-consumer genetic testing.[57] The security of users’ information varies in magnitude among the DTC testing companies, however each company’s privacy policies explicitly state how they collect and share information.

             Most DTC privacy policies are available on each company’s website. Consumers should read the privacy policies and terms of service before purchasing a testing kit to fully understand the privacy risks. Some DTC testing companies provide definitions for specific terms described in their privacy policies. However, an extensive list of definitions, which many have, can make their privacy policies more confusing. The privacy policy from 23andMe, a popular DTC testing company, provides insight into how consumer-based genetic testing companies protect their users’ genetic information. The privacy policy states “23andMe will not sell, lease, or rent individual-level information to a third party for research purposes without explicit consent,” including public databases or insurance companies.[58] ORIG3N, another direct-to-consumer genetic testing company, also claims they will never send genetic information to a third-party entity without consent, which is similar to 23andMe’s policy.[59] Both policies align with the Privacy Act of 1974. However, both policies list details about the sharing of personal and aggregate data with other entities without the user’s consent. Hence, a consumer interested in 23andMe would need to understand the differences between individual-level information, personal information, and aggregate information. 23andMe also states they may share personal information with companies under common ownership, which is not uncommon in the industry.[60]

            Another direct-to-consumer genetic testing company, FamilyTreeDNA, explicitly states they use and share personal information with third parties.[61] FamilyTreeDNA defines genetic information as part of personal information.[62] The double-edged sword of this type of policy is that users are told their information will be used, but at the same time it should alarm consumers that companies share consumers' information in ways where explicit consent is not obtained. FamilyTreeDNA lists a number of reasons for sharing information, including for internal improvement reasons, with companies under common ownership, with “targeted Advertising” service providers, and with law enforcement.[63] Deliberately sharing and commercializing users’ information is an increasingly common concern in the digital age. FamilyTreeDNA claims they have “certified its compliance with both the EU-U.S. and Swiss-U.S. Privacy Shield Frameworks as set forth by the U.S. Department of Commerce regarding the collection, use, and retention of personal information.”[64] The average person likely does not know what the policy standards entail, but the statement may provide the user with a false sense of security. Looking closely at privacy policies suggests that users do not have much control over the actions DTC testing companies take with their information, to the point where some companies claim ownership over collected information.

            By claiming ownership of consumer information, DTC companies gain more capital. One way DTC companies retain this type of capital is by not allowing users to delete all of the information DTC companies originally collected. 23andMe allows users to request data deletion. However their privacy policy states, “23andMe and/or our contracted genotyping laboratory will retain your Genetic Information, date of birth, and sex as required for compliance with applicable legal obligations.”[65] ORIG3N also claims the right to retain DNA and samples required by law or by data retention policies, and states genetic samples may or may not be destroyed by request.[66] Retaining genetic information for legal purposes is not necessarily malevolent if there are little to no privacy concerns for the user. However, some companies retain users’ information for their own benefit, which is particularly concerning when children’s samples are tested. Other companies within the industry outline different data deletion policies than 23andMe or ORIG3N. Hazel and Slobogin, who conducted a thorough analysis of direct-to-consumer privacy policies, found that 17 out of 24 companies allow consumers to delete only some of their genetic data, five said that the consumer could delete all their data, and one company said that users cannot delete any data.[67] The companies revealed that users’ information may be shared with third parties prior to a deletion request, which would complicate the absolute deletion from databases.[68] Young children likely do not understand privacy risks with data retainment, which means they cannot give proper assent. Parents who send in their young child’s sample to a company upholding this type of policy strip their child from having authority over the information collected by the DTC testing company. Losing the option of deleting data increases the magnitude of which authority over information is lost. Once the companies grab hold of users’ information, the user loses control over who can access their personal information and what is done with their information.

            Children lose authority over their personal information when direct-to-consumer companies sell user information. Hazel and Slobogin’s study also found that 10 out of 55 companies claim the company has the right to commercialize consumers’ genetic data, and seven stated that the consumer kept ownership of their genetic data.[69] An example of commercializing data occurred in 2018, when 23andMe granted pharmaceutical giant GlaxoSmithKline access to their customers data in exchange for 300 million dollars.[70] Parents utilizing direct-to-consumer companies willingly give up their child’s private information to entities whose goal is to make a profit. To act in a child’s best interest, parents should not subject their child to genetic testing from companies that commercialize such private and volatile information. The risks of data leakage and tracing genetic information back to the individual outweigh the benefit from learning a child’s ancestry or hidden talents. Privacy and non-discrimination policies may change by the time a child enters the workforce, but the potential for hackers, data leakage, and discrimination increases exponentially when genetic information is stored in databases, even with policies like GINA in place.

            Hackers and security breaches are other areas of concern for large databases. For example, hackers broke into GEDmatch’s system, making private users’ information public and opting for everyone to law enforcement matching.[71] During this time, users lost any authority (that they still had) over the information shared with GEDmatch. The very real potential for security breaches may be reason enough not to purchase genetic testing of this fashion for minors. Minors should defer from utilizing DTC genetic testing until an individual is of the legal age of consent and can fully understand all of the risks. In the case of security breach, Hazel and Slobogin’s study found that only three out of 55 responding companies stated that they notify consumers of security breaches.[72] The 52 other companies did not explicitly state how they would deal with a security breach or whether users would be notified.[73] Minors should have autonomy over what happens their information, and parents are responsible for upholding their child’s autonomy. The concern for children’s privacy makes direct-to-consumer testing even more unsuitable. Unfortunately, children face losing autonomy over their information not only through the companies themselves but through parents’ reckless online behavior.

            Sharing a child’s genetic information online presents several concerns. Nila Bala, an attorney specializing in criminal justice policy and civil liberties, wrote an article published in the New York Times urging parents to stop sharing their children’s genetic information online.   Parents share both clinical and direct-to-consumer genetic testing results on platforms such as Facebook or in blogs, and also upload DTC genetic testing results to DTC company databases.[74] The fact that Bala’s article exists demonstrates the widespread presence of parents oversharing their children’s private information, described as the phenomenon of “sharenting”.[75] Bala argues that parents invade their children’s privacy when they post their children’s genetic information online, and she advocates for pediatric privacy.[76] Not only do children have to worry about having control over the knowledge of their genetic information, but they may also have to worry about the privacy of it within their own families. Unfortunately, this problem cannot be stopped by any regulation besides the personal concealment of information. Bala proposes educating parents on the risks of online sharing in a manner that makes “sharenting” socially unacceptable.[77] Online oversharing is not limited to either clinical or direct-to-consumer pediatric genetic testing, creating a similarity for the negative consequences between the two.

            The first step in validating the use of direct-to-consumer testing should involve the child showing interest in participating in this type of testing. Parents should not encourage their children to participate due to the magnitude of trust and influence they have on their kin. To act in their child’s best interest, parents should read privacy policies themselves to understand the risks associated with handing over their child’s information to direct-to-consumer companies. A parent should gain assent from their child before allowing their child to utilize the test, and the child also needs to demonstrate a sufficient maturity level capable of understanding privacy risks. Only under these circumstances can a parent argue they are acting in a child’s best interest.      

Ethical Issues Regarding All Forms of Genetic Testing

            Philosophers question the need for certain genetic tests, especially for carrier testing and pre-symptomatic and predictive testing. Gregory Pence, a philosopher and professor at the University of Alabama-Birmingham, raises ethical concerns with genetic testing in pediatrics in his book Medical Ethics. Pence reviews the position of Nancy Wexler, who was a pioneer in developing a predictive test for Huntington’s disease.[78] Wexler thought people would develop a sick identity before developing the indicated disease if a person tests positive for a carrier gene or late-onset condition.[79] A child could develop illness anxiety as well, especially if they do not understand the indicated condition. Utilizing the AAP and ACMG’s recommendation to defer carrier or late-onset testing until adulthood diminishes the potential for a child’s unnecessary psychosocial burden. Parents may seek special treatment for their child, or if the child is old enough to understand their predisposition, they may seek special treatment themselves. Justifying preventative treatment is a slippery slope due to the variability in the chances of developing a late-onset disease. Pence also suggests that an individual who knows they have a predisposition to a disease may feel a decrease in responsibility for taking care of themselves, leading them to engage in risky behavior that is known to stimulate the disease’s progression.[80] This issue relates to diminishing a child’s open future. If a child learns they will develop a life-threatening disease, they may not put forth effort in school or activities, and they may feel hopeless about their future. In an otherwise healthy child, deterring development due to anxiety about future health supports letting the individual decide to undergo genetic testing once they reach the age of consent, and can fully understand the possible consequences.

            Once parents know their child’s genetic information, they may implicate further interventions to fix or prevent genetic diseases. Exploring the possible outcomes following genetic testing applies to clinical and DTC genetic testing. Parents’ motivation for either type of testing could arise for several reasons. A child showing symptoms of an undiagnosed illness or a history of familial genetic disease could motivate parents to seek genetic counsel from a healthcare professional. Advertisements or an interest in ancestry likely motivate parents to purchase direct-to-consumer tests. The actions parents may take after acquiring genetic information can push ethical boundaries.

            Gene therapy treatments are available for individuals who have a genetic disease. When individuals seek this same treatment without a genetic disease, the treatment is considered gene enhancement. For example, a treatment developed for muscular dystrophy, which has genetic causes, repairs muscle cells damaged by the disease.[81] The treatment also strengthens normal muscle cells in individuals without muscular dystrophy.[82] Those seeking treatment without muscular dystrophy take resources away from those with a debilitating disease and gain an unnecessary muscular advantage. Similarly, parents may seek enhancement treatment for a child who tested negative for genetic diseases but feel their child needs a competitive edge in society. Parents ultimately make healthcare decisions for their children, and the motivation for subjecting a child to enhancement treatments raises concerns about society’s changing expectations.

            Philosophers also challenge the morals of those seeking gene enhancement. Michael Sandel, a philosopher, explores the moral differences between gene therapy and gene enhancement in his widely read article “The Case Against Perfection.” Sandel questions society when he states, “The fundamental question is not how to ensure equal access to enhancement but whether we should aspire to it in the first place.”[83] To seek enhancement for a child, parents must feel unsatisfied with some aspect of their child’s performance or disposition, otherwise treatment would not be considered. Parental dissatisfaction, especially for young children, raises concern for parents’ acceptance of their children. Seeking enhancement treatment suggests that parents place high expectations on their child and feel that their child cannot meet those expectations as they are now. Sandel brilliantly states, “Like cosmetic surgery, genetic enhancement employs medical means for nonmedical ends—ends unrelated to curing or preventing disease or repairing injury.”[84] Dissatisfaction, the fear of not meeting expectations, and lack of belief in their child’s abilities could serve as nonmedical reasons that motivate parents to subject their children to enhancement treatment. If society offers cures for worries such as these, society may be sending the wrong message to parents. The mere offering of enhancement treatment may imply an increasing competitiveness level in society, deeming it acceptable to subject children to unnecessary treatment. Beyond changing societal mores, enhancement treatment also diminishes a child’s natural growth and development.

            Parents may feel willing to give their child any advantages in life, even when the child does not have any mental and physical disabilities. For instance, 40% of HGH (human growth hormone) prescriptions were prescribed to children without hormone deficiencies in 1996.[85] This idea suggests both physicians and parents thought children could benefit from a height advantage, even when they biologically did not need treatment. When treatment is done at a young age, children lose their autonomy over their health outcomes. Administering unnecessary treatment could cause a child to bear the weight of their parents’ dissatisfaction, which could lead to negative mental health consequences. Conversely, the child may appreciate enhancement treatment in adulthood, suggesting the parents’ and physician’s decision was acting in the child’s best interest. Genetic testing provides a vast amount of information about an individual, and once that information is known, it is natural to strive for improvement in weak areas. Parents tend to want the best for their children, which could lead them to pursue medical enhancement procedures for an otherwise healthy child. Analogous to the increasing number of genetic tests targeted towards parents and children, the number of available enhancement treatments will likely increase as technology advances. Western culture embraces clinical and direct-to-consumer genetic testing as well as enhancement procedures, suggesting the future acceptance of possible controversial advancements in both sectors.


            Backed by medical organizations, federal laws, and ethical standards, clinical pediatric genetic testing better suits a child’s best interest compared to direct-to-consumer genetic tests. Common concerns for children include compromising a child’s open future, respect for the child’s autonomy, and issues of informed . The clinical utility and validity of genetic tests are upheld by multiple positional statements, while privacy protection is enforced by federal laws. Health professionals have a moral duty to practice medicine utilizing the four principles of medical ethics, unlike direct-to-consumer companies. Medical organizations weaken direct-to-consumer genetic testing validity by outlining punctilious recommendations or opposing DTC genetic testing altogether. Children growing up in the current digital age subjected to current genetic procedures will likely pass on their assessment of genetic testing and treatment, whether positive or negative, shaping their children’s beliefs and possibly future generations. Society’s position on genetic testing reveals only a glimpse of society’s views on privacy, respect for autonomy, and reliance on technology, but positional shifts regarding genetic testing likely translate to overarching transitions in society’s values and norms.















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[1] Privacy Act of 1974, 67.

[2] Privacy Act of 1974, 83-119.

[3] “Genetic Information Nondiscrimination Act.”

[4] “Genetic Information Nondiscrimination Act.”

[5] “Genetic Information Nondiscrimination Act.”

[6] “HIPAA Privacy Rule,” 1.

[7] “HIPAA Privacy Rule,” 4-9.

[8] Office of the Advocate for Children & Young People, “Rights of the Child”.

[9] Pence, “Medical Ethics,” 16-18.

[10] Joyce Babyak.

[11] “Types of Genetic Tests.”

[12] “Types of Genetic Tests.”

[13] “Types of Genetic Tests.”

[14] “Types of Genetic Tests.”

[15] “Types of Genetic Tests.”

[16] Botkin et al. "Implications of Genetic Testing,” 12.

[17] Committee on Bioethics. "Ethical Issues with Genetic Testing," 1452.

[18] Gyngell, et al. “Genomic Neonatal Intensive Care,” S15.

[19] Gyngell, et al., S15.

[20] Committee on Bioethics. "Ethical Issues with Genetic Testing," 1452-1453.

[21] Gyngell, et al. “Genomic Neonatal Intensive Care,” S15.

[22] Botkin et al. "Implications of Genetic Testing,” 12.

[23] Gyngell, et al. “Genomic Neonatal Intensive Care,” S16.

[24] Committee on Bioethics  et al., "Ethical and Policy Issues," 621.

[25] Committee on Bioethics  et al., 621.

[26] Botkin et al., “Implications of Genetic Testing,” 8.

[27] Committee on Bioethics  et al., "Ethical and Policy Issues," 621.

[28] Botkin et al. "Implications of Genetic Testing,”  10.

[29] Botkin et al., 10.

[30] Committee on Bioethics  et al., "Ethical and Policy Issues," 621.

[31] Botkin et al., "Implications of Genetic Testing,” 8.

[32] Botkin et al., 10.

[33] Committee on Bioethics  et al., "Ethical and Policy Issues," 621.

[34] Kalia et al., “Recommendations for Secondary Findings,” 1.

[35] Kalia et al., 1.

[36] Chung, Wendy K, and George E Hardart. “Genetic Testing of Children,” S104.

[37] Botkin et al., "Implications of Genetic Testing,” 9.

[38] Botkin et al., "Implications of Genetic Testing,”  9.

[39] Botkin et al., 9.

[40] Zhao et al., "Genetic Testing Experiences," 4821.

[41] Zhao et al., 4822.

[42] Zhao et al., 4825.

[43] Zhao et al., 4825.

[44] Zhao et al., 4825.

[45] Zhao et al., 4827.

[46] Zhao et al., 4830.

[47] Kay, “DNA Secrets.”

[48] Kay, “DNA Secrets.”

[49] Mendoza and Diallo, "The Best DNA Testing Kit.”

[50] Hazel and Slobogin, “Survey of the Privacy Policies,” 6-7.

[51] Hazel and Slobogin, 7.

[52] Hazel and Slobogin, 8.

[53] Hazel and Slobogin, 7-8.

[54] Hudson et al., "ASHG Statement," 635-637.

[55] ACMG Board of Directors, "Direct-to-Consumer Testing," 207-208.

[56] ACMG Board of Directors, 207.

[57] Mendoza and Diallo, "The Best DNA Testing Kit.”

[58] 23andMe, “Full Privacy Statement.”

[59] Orig3n, “Privacy Policy - Genetic Information.”

[60] 23andMe, “Full Privacy Statement.”

[61] FamilyTreeDNA, “FamilyTreeDNA Privacy Statement.”

[62] FamilyTreeDNA.

[63] FamilyTreeDNA.

[64] FamilyTreeDNA.

[65] 23andMe, “Full Privacy Statement.”

[66] Orig3n, “Privacy Policy - Genetic Information.”

[67] Hazel and Slobogin, “Survey of the Privacy Policies,” 18.

[68] Hazel and Slobogin, 18.

[69] Hazel and Slobogin, “Survey of the Privacy Policies,” 19.

[70] Mendoza and Diallo, "The Best DNA Testing Kit.”

[71] Mendoza and Diallo, "The Best DNA Testing Kit.”

[72] Hazel and Slobogin, “Survey of the Privacy Policies,” 19-20.

[73] Hazel and Slobogin, 20.

[74] Bala, "Publicly Sharing Child’s DNA?”

[75] Bala.

[76] Bala.

[77] Bala.

[78] Pence, “Medical Ethics,” 325.

[79] Pence, 336.

[80] Pence, 341-342.

[81] Sandel, “The Case Against Perfection,” 52

[82] Sandel, 52.

[83] Sandel, 52.

[84] Sandel, 51.

[85] Sandel, 53.

Volume 19, Fall 2021