Clinical vs. Direct-to-Consumer Genetic Testing: Education and Ethical Awareness

The rising popularity and availability of DNA and genetic testing to the general public has opened new pathways for adopted persons to learn about their health and genetic ancestry. Genetic testing has also created new avenues for search and reunion with biological families. 

This article will focus on informing adoptive families on how to distinguish between direct-to-consumer (DTC) and clinical genetic testing methods, the considerations that should be taken when making decisions about genetic testing, and the type of information each testing can provide. Additionally, we’ll provide some brief insight about potential ethical concerns and confidentiality issues with genetic testing and the questions you may want to start asking yourself if you are considering genetic testing for your child.

This article is the third installment in an educational series aiming to improve health literacy and empowerment for adoptive families when assembling a biological family health history for their adopted child(ren). The information in this article is provided for educational purposes only and does not constitute as medical/clinical advice nor endorsement of these tests.

What Information Can Be Provided to Adopted Children Through Genetic Testing? What are Some of Its Pitfalls?

Genetic testing is a tool that has the potential to provide adopted children experiencing medical conditions and their adoptive families with more biological medical information or ancestry data. Genetic testing is able to provide insight into an individual’s genetic ancestry, health risks, particular genetic conditions one may have and potential family search.

A survey of more than 1,200 adopted adults from the National Council for Adoption in 2023 showed that over two-thirds of adopted adults completed genetic testing at some point in their lives. They report their reasons for doing so included: 

• understanding medical situation/condition 
• obtaining general health information 
• searching for relatives
• learning more about ancestry

However, there are several pitfalls to genetic testing. These pitfalls broadly fall into the categories of accuracy, privacy and ethical concerns. We will dive into more details surrounding these, but some main concerns the adoption community has surrounding genetic testing are: concerns about the accuracy and predictive validity of genetic tests, hesitations regarding data sharing, and potential unwanted connections between genetic relatives.

Research has found that adult adopted individuals have mixed feelings about genetic testing. While many have seen it as an opportunity to provide clarity and relief about their health risks and genetic ancestry, adopted adults also reported concerns about privacy, disappointment in family search, and receiving surprising or unwanted health risk information. For these reasons, it’s important to consider how genetic testing can affect your child not only in the present but also in their future. Adoption-competent counselors and genetic counselors can help guide these decisions and conversations as well as explore options, motivations and expectations. 

It’s crucial to note that while DTC genetic tests can be done for minors with parental consent, national medical societies discourage this practice. For example, the American Academy of Pediatrics (AAP) has publicly discouraged the use of DTC genetic tests for individuals under the age of 18 and encourages parents to speak with their pediatrician or family doctor about genetic testing if they have any concerns for their child.  

Furthermore, the American Society of Human Genetics (ASHG) and the American College of Medical Genetics (ACMG) outline specific recommendations for genetic testing for adopted children: 

1. All genetic testing of newborns and children in the adoption process should be consistent with the tests performed on all children of a similar age for the purposes of diagnosis or of identifying appropriate prevention strategies.
2. Because the primary justification for genetic testing of any child is a timely medical benefit to the child, genetic testing of newborns and children in the adoption process should be limited to testing for conditions that manifest themselves during childhood or for which preventive measures or therapies may be undertaken during childhood.
3. In the adoption process, newborns and children should not be tested for the purpose of detecting genetic variations of, or predispositions to physical, mental or behavioral traits within the normal range.

For adopted children, genetic testing may be able to provide insight into what preventative measures families and doctors can take that may improve the prognosis (likely course or outcome) of a treatable illness. However, this process should be approached with much care and guidance from adoption professionals and professionals in pediatric health and genetics.

What is Direct-to-Consumer Genetic Testing?

Direct-to-consumer (DTC) genetic testing, also known as “at-home genetic testing” or DNA tests, is a broad classification of genetic tests that are performed between consumers and genetic testing companies without the direct involvement of a clinician (e.g., physician or genetic counselor). These genetic tests are the types you may most commonly see on commercials, the internet/social media, or in-store advertising. While there are about 250 different DTC genetic testing companies that exist in the U.S., some notable or familiar names you may have heard of are 23andMe and Ancestry.com. DTC test samples are typically taken at home from a kit using a cheek/mouth swab and are mailed to the company’s lab, where the sample is analyzed. 

Within the category of DTC genetic tests, companies may tailor and advertise their tests depending on consumer interests and goals for using the test. For example, some companies focus on producing data more centered around genetic ancestry. This means that DNA segments are analyzed and compared to those in particular geographic regions, indicating where biological ancestors may have lived. It is important not to conflate this with race and ethnicity, as those are social labels; whereas ancestry refers to strictly biological/genetic lineage. 

Another area DTC genetic tests may report on is traits. This can include things like the likelihood of having a particular hair or eye color, muscle composition and athleticism, your natural sleep cycle, etc. While these traits may be entertaining to see, they don’t offer significant insight into one’s health or majorly influence decisions about health.  

Some DTC genetic tests create reports that screen for things such as cancer risk (e.g., breast, colorectal), kidney disease, diabetes, Alzheimer’s, Celiac Disease and many more. Individuals can also be screened for carrier status, meaning they can pass down a disease-associated variant of a gene to their offspring, but might not have the disease themselves. It’s important to recognize that health risk reports delivered through DTC tests often vary in methods for screening or don’t screen for all known biological or genetic risks. This can result in potential false-positive or false-negative results for particular genetic variants linked to a disease. Due to this, DTC genetic testing results related to health and medical conditions are typically advised to be reviewed with a trusted medical provider before they are used to change one’s health decisions or behavior, especially for children. 

Additionally, the FDA regulates “in-vitro diagnostic” products, i.e., products that analyze human samples (blood, tissue, saliva) outside the body to diagnose diseases or monitor health. This can include carrier screening tests, genetic health risk tests, pharmacogenomics tests and cancer predisposition tests. The FDA does not review tests such as low risk general wellness tests and ancestry tests. You can read more on the FDA’s website about what tests are reviewed and authorized by the FDA as well as what types of testing do not fall under their jurisdiction.

Ethical and Practical Considerations for Direct-to-Consumer Genetic Testing

Direct-to-consumer (DTC) genetic testing offers individuals the ability to independently access genetic information without requiring a healthcare provider, including opt-in features such as identifying potential biological relatives and exploring ancestry. These tests may also provide preliminary insights that could inform future clinical screening decisions. 

However, there are several limitations and important considerations. The specific testing methods used by companies are not always transparent, and results are not diagnostic, meaning some genetic variants may be missed or inaccurately characterized. Reported findings may emphasize results with lower statistical reliability or those more likely to occur by chance, which can affect interpretation. Additionally, testing is typically paid for out of pocket, which may present a financial barrier to many. Privacy is another key consideration, as many companies are for-profit entities that may retain ownership of genetic data or biological samples; it is important to review company-specific privacy policies before conducting a test. Furthermore, while uncommon, unexpected health-related findings could have downstream implications, such as influencing eligibility for certain types of insurance (not including health insurance), intense emotions, and changing how one may consider future family planning. 

It should be noted that DTC and clinical genetic tests are not mutually exclusive. It is not uncommon for individuals to do a DTC genetic test (for a multitude of potential reasons, such as family search or curiosity about traits and health predisposition), and if they see a positive result for genetic risk for a tested condition, they bring the results of their test to a genetic counselor or physician to verify the results via a clinical test. It’s important that if you and your child make a decision to do a DTC genetic test and want to seek out a diagnosis, you come to your family’s clinician with an understanding that DTC tests cannot give a conclusive answer about medical conditions, but can be used as a consideration before deciding on an official screening.

What is Clinical Genetic Testing?

Clinical, also known as medical, genetic testing is when your doctor orders a genetic test to diagnose a specific medical disorder or identify risk for developing a particular disease like cancer. These tests can be ordered if your child begins to present symptoms of a particular disease, to guide prevention and treatment plans or learn about your child’s potential to pass on genetic diseases to their future children. There are three main types of tests that can be ordered. 

• Single gene tests look for changes in one gene. This is typically used when a patient is displaying symptoms of a certain disease that is caused by changes in a specific gene (also called a monogenic disorder or single-gene disorder). Some common examples you may have heard of are sickle cell disease, Huntington’s disease and cystic fibrosis. 
• Genetic testing panels look for changes in multiple genes. This is typically recommended when a patient is displaying symptoms of a disease or condition that can be caused by genetic changes in many different genes. Testing panels look at a number of genes that may be associated with a specific disease or disorder. Some common examples include epilepsy, cerebral palsy and primary immunodeficiency. 
• Large-scale genomic testing looks for genetic changes across the entire genome. This testing may be called whole exome or whole genome sequencing. This is typically recommended when a patient is displaying symptoms of a complex medical condition that has a known genetic contribution, but there are a multitude of possible indications, including both known and unknown genes. A highly prevalent example in child health is autism spectrum disorder (ASD) because there are many different genetic changes that can contribute to ASD, and not every individual with ASD has the same changes.

Ethical and Practical Considerations for Clinical Genetic Testing

Clinical genetic testing is typically conducted within a healthcare setting and can provide information that contributes to an official medical diagnosis. Results are interpreted with guidance from trained genetics professionals, which may support clinical decision-making, including strategies for disease prevention, monitoring, or treatment. In many cases, testing may be partially or fully covered by health insurance, depending on the indication and policy. 

However, access to clinical genetic testing often depends on the presence of relevant personal or family medical history or specific symptoms that justify its use, which may limit eligibility. Additionally, the process requires involvement from a healthcare provider for test ordering, interpretation, and follow-up care, which may be more challenging for those without a long-term, continuous care provider. Guidance from a genetic counselor who has experience working with adopted patients can be incredibly helpful when navigating genetic testing in general due to their expertise in genetics, complex family history, ethics and communicating with families.

Recognizing and Addressing Emotional Responses to Information about Genetic Health

Sometimes, results from genetic tests can be unexpected and surprising. Even results that may be suspected can still elicit strong, emotional responses. As earlier addressed, when it comes to child health, the ethical approach is to only genetically screen for preventable illnesses. In this type of screening, a positive result is meant to signal for future prevention and early intervention. However, positive results can still bring about stress to both the child and parents. Navigating changes in lifestyle and medical treatment to prevent and address illness can be challenging, but framing things in a positive and proactive light can help give a hopeful outlook on your child’s health. 

It’s important to acknowledge that positive and negative results do not directly correlate to positive and negative emotions. For example, sometimes negative results can result in survivor’s guilt – “why do others/my family have to suffer from this condition and I don’t?” 

Although not the main focus of this article, ancestral and genealogical testing can also bring about both positive and negative feelings. There can be positive feelings of community, cultural exploration, and excitement to learn about oneself. On the other hand, there can also be ambiguous and negative emotions like confusion, imposter syndrome, and fear. Seeking help from an adoption-competent therapist can help address and confront these sometimes unexpected emotions in a healthy and guided manner. Navigate to the Cradle’s blog posts about having difficult conversations with your adopted child here: ages 2-5, ages 6-12, and ages 13-19. 

Factors for Families Considering Genetic Testing

Genetic testing may allow for insights into your child’s history. However, it’s important to acknowledge that with this information may come heavy questions and surprising realizations. When making the decision to pursue genetic testing, it’s important to have your child’s consent and protect their information. 

It’s important to know that the privacy of your child’s genetic information is crucial. The Genetic Information Nondiscrimination Act (GINA), passed in 2008, protects healthy consumers from health insurance and employment discrimination based on genetic predisposition; GINA does not protect against discrimination by life insurers or long-term care insurers. 

Additionally, family search can be a sensitive and difficult process that not every adopted person may want to go through. On many DTC genetic testing platforms, you can opt out of family search functions. If your child later decides they would like to use this tool, they can later opt in. You can read more in The Cradle’s blog article about how DNA testing kits are changing search and reunion.