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. Author manuscript; available in PMC: 2026 Mar 21.
Published in final edited form as: NEJM Evid. 2025 Oct 28;4(11):EVIDra2400455. doi: 10.1056/EVIDra2400455

Direct-to-Consumer Genetic Testing

Julianne M O’Daniel 1, Christine Kobelka 2, Kimberly Foss 2, Ann Katherine M Foreman 2, Laura V Milko 2
PMCID: PMC13003769  NIHMSID: NIHMS2150185  PMID: 41147825

Abstract

Direct-to-consumer genetic testing has become increasingly popular, offering individuals easy access to genetic data without the involvement of healthcare professionals. However, as availability grows, clinicians face challenges in interpreting and integrating this information into clinical care. This review provides insights for health professionals about the evolving landscape of direct-to-consumer genetic testing, with a focus on test offerings, limitations, challenges, and ethical concerns. It also highlights issues that can arise with direct-to-consumer genetic testing in the pediatric setting. Clinicians can play a pivotal role in guiding patients and families through the complexities of direct-to-consumer genetic testing, ensuring decisions are informed and risks are minimized.

INTRODUCTION

As costs related to genetic testing decrease and insurance coverage broadens, genetic testing is becoming more accessible and widespread across all healthcare settings. While most patients undergo genetic testing through their healthcare providers for specific clinical indications, a growing number of individuals are choosing to order tests directly, outside of a traditional medical setting1. Direct-to-consumer genetic testing refers to genetic tests marketed directly to patients as consumers, allowing individuals to access their genetic information without necessarily involving a healthcare provider. Over the past decade, the availability of direct-to-consumer genetic testing has expanded with an array of test options2. Companies may promote dramatic offers to “unlock your genome” and “learn who you really are”3. This messaging may appeal to those who are curious about their genetic makeup, proactive about their health, and willing to pay for insights. On the other hand, relatively lower costs and the hope of diagnostic breakthroughs may attract individuals with undiagnosed symptoms desperate for medical information and new treatment alternatives.

For those interested in clinically valid information, some direct-to-consumer genetic testing companies offer high-quality, clinical-grade genetic testing. However, these tests may or may not also provide clinical-grade interpretation. Without clinical context, individualized interpretation, and guidance of healthcare professionals, consumers may be left to navigate complicated genetic information on their own4. Many may bring results to their primary care clinician seeking help with interpretation and clinical guidance. In some cases, however, this has resulted in misinterpretation, and inappropriate or unnecessary recommendations5. It has, thus, become increasingly important for clinicians to gain an appreciation of the scope and limitations of direct-to-consumer genetic testing to best guide their patients and potential next steps.

Here we aim to provide an overview of what can be reliably gained from direct-to-consumer genetic testing and suggest strategies to help clinicians navigate discussions with patients about these tests.

Types and Examples of Direct-to-Consumer Genetic Testing

To fully understand a patient’s direct-to-consumer genetic testing requires understanding the testing method, as well as the content and origin of the test report—whether it was generated by the testing laboratory or a third-party interpretation company.

Testing Methods

Direct-to-consumer genetic testing employs two primary approaches: genotyping or sequencing-based methods6.Genotyping-based tests analyze pre-selected genetic positions to determine the presence or absence of a specific genetic variant in a person. These tests are commonly used to evaluate variant markers statistically associated with traits and genomic ancestry. Genotyping tests are also employed to analyze common or population-specific pathogenic variants associated with certain inherited conditions. Examples include testing for three Ashkenazi Jewish population founder variants in the BRCA1 and BRCA2 genes diagnostic of hereditary breast and ovarian cancer syndrome; two variants in the MUTYH gene diagnostic for MUTYH-associated polyposis, more commonly in people with European ancestry; and two common variants in the HFE gene associated with hereditary hemochromatosis. While there are numerous pathogenic variants in these genes, a genotype-based test will only identify the select variants it was developed to assess. Thus, patients who state they had normal direct-to-consumer genetic testing for a hereditary condition in their family may have a false negative if the direct-to-consumer genetic testing did not include their specific familial variant.

In contrast, sequencing-based methods provide a broader and more comprehensive analysis. These types of tests sequence or “read” each DNA base pair within targeted genomic regions, generating detailed sequence data. The resulting data are then compared to a reference genome which represents the most common or “wild type” base at each position. Differences from the reference are recorded in a variant file, which classifies the base at each position as either matching the wild-type or containing a variant. Technical standards for sequencing are updated regularly to guide laboratories in producing accurate clinical results7.

Similarly, standards for evaluating variant-specific evidence for clinical interpretation are also continuously updated to reflect advances in knowledge and interpretative tools8. Variant interpretation is a critical component of any genetic test. Most clinical laboratories follow the joint guidelines issued by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP)8, which specify the types of evidence to consider and how to weigh them in combination to determine a variant’s classification.

Under these guidelines, variants are classified into 5 general categories: benign, likely benign, variant of uncertain significance, likely pathogenic and pathogenic. As knowledge and evidence about a particular variant may change over time, the clinical classification may also change9. Based on the evidence categories, this should not impact variants classified as pathogenic or benign8. To address this, clinical laboratory standards require labs to maintain policies for periodic review and reclassification of variants to ensure that patients and clinicians receive the most current and accurate interpretations7.

It is important to recognize that the vast majority of variants are benign, representing normal population variation. For a variant to be considered clinically significant (i.e. pathogenic or likely pathogenic), there must be sufficient evidence of its impact on gene function and sufficient evidence that the gene itself is causally associated with the disease in question10. Although the human genome contains approximately 20,000 genes11, only about 5,000 are currently known to be causally linked to human disease, according to the Online Mendelian Inheritance in Man (OMIM) database12. Table 1 includes resources to help clinicians evaluate the clinical validity of a gene or variant meaning whether it is causally associated with a particular hereditary condition.

Table 1:

Key Resources for Clinical Interpretation

Resource Description
Clinical Variant and Gene Validity ClinGen19 https://clinicalgenome.org/ NIH-funded resource that curates and standardizes clinical evidence to assess the validity of gene–disease and variant–disease relationships in hereditary conditions.
ClinVar20 https://www.ncbi.nlm.nih.gov/clinvar/ NCBI database that serves as a repository for assertions of pathogenicity on the relationships between human genetic variations and phenotypes
GeneReviewhttps://www.ncbi.nlm.nih.gov/books/NBK1116/ NIH-funded online database containing standardized peer-reviewed summaries for evaluating and managing heritable conditions
Pharmaco-Genomics (PGx) PharmGKB21 https://www.pharmgkb.org/ Comprehensive resource that provides information on how genetic variations affect drug response
CPIC22 https://cpicpgx.org/ International consortium focused on pharmacogenomics and clinical practice guidelines
Clinician Educational Resources National Human Genome Research Institute https://www.genome.gov/about-genomics NIH institute educational resources for numerous topics in clinical genomics
https://www.genome.gov/For-Health-Professionals/Provider-Genomics-Education-Resources/Healthcare-Provider-Direct-to-Consumer-Genetic-Testing-FAQ NIH institute educational resource about direct-to-consumer genetic testing
Genomics Education Programme https://www.genomicseducation.hee.nhs.uk/ NHS England genomics education courses for clinicians
JAX Clinical Education https://www.jax.org/education-and-learning/clinical-and-continuing-education Online, CME/CNE courses and clinical tools
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NIH: National Institutes of Health; NCBI: National Center for Biotechnology Information; NHS: National Health Service; CME: Continuing Medical Education. CNE: Continuing Nursing Education

Sequencing-based direct-to-consumer genetic testing may include: (1) targeted gene panels focused on specific genes known to be causally linked to conditions such as hereditary cancer, (2) broad exome-based tests that analyze the protein-coding regions (exons) of all known disease-associated genes, or (3) genome sequencing, which includes both exonic and intronic (non-protein-coding) regions of the genome. While sequencing offers a more comprehensive assessment than genotyping, it may not detect all types of genetic variation13. For example, certain clinically relevant genes may harbor large structural variants such as multi-exon deletions, that can be missed by standard shot-read sequencing technology. An example is EPCAM, which is associated with Lynch syndrome through deletion-mediated inactivation of the adjacent MSH2 gene14. To comprehensively address such genes, additional technologies, such as copy number variant (CNV) detection or deletion/duplication analysis, may be required. It is critical that laboratories clearly disclose any limitations in their ability to analyze specific genes so that patients and clinicians can interpret the results with appropriate context7.

Sequencing also requires technical bioinformatics to ensure data quality and expert interpretation to assess the clinical significance, if any, of detected variants. Many direct-to-consumer genetic testing companies follow Clinical Laboratory Improvement Amendments (CLIA) guidelines to ensure analytical validity15, and some also hold accreditation from the College of American Pathologists (CAP) which provides additional quality assurance16. These U.S.-based regulatory bodies govern laboratory processes but do not regulate the interpretation of genetic variants. Clinical interpretation is considered a medical practice and falls under the purview of professional boards, such as the American Board of Medical Genetics and Genomics17.

Importantly, not all direct-to-consumer genetic testing companies follow CLIA or CAP standards, which can impact test reliability, and few, if any, employ board-certified genetics professionals to oversee clinical interpretation18. As a result, while a test may accurately identify the presence of a variant, its interpretation may be incomplete or incorrect. Consumers should attempt to verify a company’s CLIA certification and CAP accreditation and remain aware that the clinical interpretation of variants is not regulated under these laboratory quality frameworks.

Test Reports and Interpretation

Understanding direct-to-consumer genetic testing reports requires careful evaluation of both data quality and the interpretation of those data23. Laboratory methods generate genetic (or variant) data files that must undergo stringent quality control, including comparison to the human reference genome, to ensure accuracy. Although the initial, “raw” genetic data may contain both high- and low-quality data, only high-confidence variant data meeting established quality thresholds are typically included in consumer-facing reports. Accurate variant data is a prerequisite for accurate variant interpretation, but variant interpretation itself is far more complex and often subjective. This is where variation between companies is most apparent; differences arise based on the intended use of the test, the depth of variant curation, and each company’s internal standards and marketing approach.

Many direct-to-consumer genetic tests are designed to provide recreational insight into genetic associations that link certain variants with an increased or decreased statistical likelihood of exhibiting particular traits or phenotypes. These results are often delivered through interactive, web-based platforms rather than standard clinical laboratory printouts. This format enables direct-to-consumer genetic testing companies to incorporate colorful visuals, graphics, and educational content aimed at helping consumers engage with and understand their results. Commonly reported traits include physical characteristics (e.g. hair texture, eye color, dietary preferences), health-related traits (e.g. risk of obesity, heart disease, or macular degeneration), and ancestry composition. Some companies also report findings related to athletic ability, such as a predisposition to sprinting versus endurance, based on overly simplified applications of neuromuscular biology.

These types of findings are based on genome-wide association studies (GWAS), which analyze genetic variants across large populations to identify statistically significant correlations with specific traits. However, the science underlying these associations is inherently complex and, in many cases, still evolving. Early findings were often conducted in limited populations and may overestimate associations that often fail to replicate in broader, more representative cohorts24. Emerging research efforts, such as the NIH’s All of Us program, have underscored the multifactorial nature of complex health conditions such as heart disease, revealing the interplay of both genetic and non-genetic factors in disease risk prediction25,26. Thus, while such tests and results may be entertaining, the findings often reflect preliminary or incomplete science. Even when the variant reported is accurately identified, the associated trait or risk interpretation may lack robust clinical validation and is subject to change as new evidence emerges.

Another category of direct-to-consumer genetic testing results involves pharmacogenomics . These tests assess how a person’s genetic makeup may influence their response to certain medications[Cite Pharmacogenetics Evidence review] . Often genotype-based, pharmacogenomics results report associations between single variants or combinations of variants (haplotypes) and drug metabolism phenotypes. Some also indicate potential risks for adverse drug reactions to particular medications or drug classes. PharmGKB is a widely used database that curates expert-reviewed evidence on gene-drug associations and provides guidance on clinical relevance27. However, like other forms of genomic association testing, pharmacogenomics results should be interpreted alongside other patient-specific factors when guiding medicine or dosing. The Clinical Pharmacogenetics Implementation Consortium (CPIC) (https://cpicpgx.org) supports this process by publishing peer-reviewed guidelines to assist clinicians in applying genetic test results to optimize drug therapy.

In general, direct-to-consumer genetic testing is not regulated by the US Food and Drug Administration (FDA). However, a limited number of tests all offered by a single company, 23andMe, have received FDA approval to return well-validated pathogenic variants associated with certain predisposition conditions as well as pharmacogenetic response. For example, a pathogenic BRCA1 variant may be reported as diagnostic of hereditary breast and ovarian cancer syndrome. This result does not indicate that the individual currently has cancer; but rather that they carry a significantly increased lifetime risk for developing certain cancers. The FDA maintains an information page and list of approved direct-to-consumer genetic testing offerings28.

Some direct-to-consumer genetic testing companies offer genetic sequencing as a standalone service without accompanying interpretation. For these companies, the product is marketed as a high-quality genetic data file that meets quality standards. Consumers of these services must then seek interpretation of their genetic data, either by purchasing additional services from the same company or by seeking out third-party interpretation tools or services29. These services range from health- and trait-related insights, similar to those offered by genotype-based tests, to more clinically focused offerings. As a result, patients are then forced to seek out interpretation options or turn to their healthcare providers, many of whom may not have the time, training, or resources to provide comprehensive interpretation of raw genetic data files30.

Importantly, most direct-to-consumer genetic testing companies currently allow consumers to download their raw genetic data files containing all detected genetic variants, regardless of the initial purpose of testing. Thus even if the test was originally purchased for ancestry information, the consumer gains access to a full variant file that includes all available genetic data, regardless of quality, by company policy rather than legal requirement, and with the caveat that availability may change over time. These raw data files often include both high-confidence and low-confidence variant calls, including those that did not pass the laboratory’s quality control or bioinformatic filtering processes. Bioinformatic filters are computational tools used to flag or exclude data that may be inaccurate due to lower sequence quality or technical limitations. When consumers or third-party services interpret raw variant data without regard for these quality flags, they risk drawing inaccurate or misleading conclusions23,31.

These concerns are supported by emerging data. In one study, 40% of variants reported to patients by direct-to-consumer genetic testing companies were found to be false positives when follow-up clinical testing was performed. The majority of these errors stemmed from third-party interpretations of raw variant data32. Another study reported that only 3 out of 12 (25%) direct-to-consumer genetic testing raw data results suggesting a pathogenic variant were confirmed on clinical genetic testing33.

Navigating third-party interpretation further complicates the landscape for both consumers and clinicians. These services vary greatly in quality, scope, and purpose. Some free online tools offer basic variant analysis by comparing results to public databases, using software to flag potentially pathogenic variants. Fee-based services range from lifestyle and wellness reports, often marketed by supplement companies, to clinical grade interpretation offered by certified clinical labs34. Importantly, the same interpretation tools are available to consumers regardless of the underlying quality or reliability of their variant data.

The two primary concerns surrounding third-party direct-to-consumer genetic testing variant interpretation are the quality of the variant data and the validity of the underlying scientific evidence. If a consumer uses inaccurate or low-quality raw data, the resulting interpretation may be based on variants the patient does not actually have. Furthermore, evaluating the clinical significance of genetic variants requires specialized expertise in genetics and laboratory medicine35. Inaccurate interpretations from unqualified sources can lead to inappropriate health decisions or unnecessary anxiety36.

The ACMG guidance on the interpretation of variants in Mendelian disease serves as the gold-standard for clinical variant interpretation8. However, guidance for interpreting statistical risk associations, such as those derived from GWAS, remains less well defined, leaving room for interpretation challenges. Organizations like ACMG have begun addressing these gaps by developing resources to help clinicians navigate these ambiguous associations, offering specific insights into frequently misinterpreted variants, such as the well-known MTHFR polymorphisms, which are frequently linked to unsupported health claims37.

Clinical issues

With the growing interest in and availability of direct-to-consumer genetic testing, clinicians are likely to encounter patient inquiries about these tests. A solid understanding of the direct-to-consumer genetic testing landscape is helpful to guide patients appropriately.

Broadly, questions about direct-to-consumer genetic testing tend to fall into two main categories: questions about ordering a direct-to-consumer genetic testing test and questions about interpreting results. Figure 1 outlines a general approach for clinicians advising patients who are considering direct-to-consumer genetic testing. For patients interested in certain information, such as genetic markers related to ear wax consistency, caffeine sensitivity, or ancestry, direct-to-consumer genetic testing may be suitable. However, clinicians should still consider privacy and consent issues (discussed in the following section) and caution patients about the low quality of raw data.

Figure 1:

Figure 1:

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Decision Tree regarding participation in DTC-GT.

Conversely, for patients seeking genetic testing to inform preventive health measures or investigate specific medical concerns, direct-to-consumer genetic testing may not be appropriate. In these cases, a detailed assessment of personal and family medical history can help determine if a clinically ordered diagnostic or population-based screening test would be more suitable. Diagnostic testing is most appropriate for patients with a personal or family history of disease. In contrast, population-based genetic screening could be offered to all adults without concerning history, to screen for more common genetic conditions with evidence-based medical management recommendations, such as those classified as CDC Tier 1 (e.g., Lynch syndrome, hereditary breast and ovarian cancer syndrome and familial hypercholesterolemia)38.

For patients who have already completed direct-to-consumer genetic testing and seek guidance on understanding their results, Table 2 provides key questions that clinicians can use to better understand their patients’ genetic data. These questions, along with their personal and family history assessment, can help providers determine the most appropriate next steps, whether it be reassurance, additional testing, or referral to a specialist.

Table 2:

Questions to ask regarding direct-to-consumer genetic testing (DTC-GT) results

Direct-to-consumer genetic testing -Related Questions

  • What is the name of the testing company?

  • What certifications and accreditations do the lab hold?

  • What type of genetic testing is provided to the patient?
    • E.g. Genotyping, Sequencing?
  • What is the purpose of the test?
    • E.g. Trait information?

  • What type of report/data is provided to the patient?

  • Is clinical interpretation provided to the patient?

  • What company has provided the interpretation and on what data is it based?

  • Is there a lab director listed for test questions?
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Table 3 provides clinical examples, including suggested follow-up questions and actions to address different patient needs. Familiarity with genetic assessment and counseling services is essential for clinicians addressing direct-to-consumer genetic testing inquiries. Traditional clinical genetics departments, staffed by board-certified medical geneticists and genetic counselors, are often affiliated with medical centers. These clinics, however, may not accept referrals based on direct-to-consumer genetic testing-related requests in the absence of personal or family history. Alternatively, some private telehealth companies offer genetic counseling services, often with board-certified counselors who can assist patients in understanding results. These services may be covered by insurance if the patient’s medical history justifies the genetic counseling encounter, or they may be offered solely on a self-pay basis. Some direct-to-consumer genetic testing companies promote specific telehealth genetic counseling services to review their results. Whether these services incur an additional cost depends on the company.

Table 3:

Clinical examples of direct-to-consumer genetic testing (DTC-GT) -related patient inquiries

Request
Type		 Example Follow-up
Questions		 Information Potential Actions
Inquiring about DTC-GT for health history 65-year-old woman with a history of breast cancer at age 40 whose mother had breast cancer at age 48, and sister had colon cancer at age 67. Has the patient had clinical genetic testing for hereditary cancer risk in the past? Patient’s personal and family history are suggestive of a hereditary risk for breast cancer. Clinical genetic testing labs now offer multi-gene panels to test for hereditary cancer risk-related genes. Clinically indicated genetic testing for hereditary cancer genes is usually covered by insurance. Refer patient to a cancer genetics clinic for assessment and consideration of appropriate clinical genetic testing for hereditary cancer risk.
DTC-GT reports average risk for all conditions they assess 42-year-old man provides a DTC-GT report that indicates he is not at increased risk for common health conditions such as heart disease, cancer, diabetes. He is wondering what he should do for preventive medical care. Does the patient have a family history of heart disease, cancer or diabetes, or known personal risk factors for these conditions? Evidence-based guidelines such as US Preventive Services Task Force (USPSTF) may guide routine health screening based on known personal risk factors and family history. In the absence of known personal or family history to suggest otherwise, the patient can be reassured that routine preventive measures are appropriate. Consider population-based genetic screening.
DTC-GT results (genotyping) 34-year-old man has a family history of Cystic Fibrosis (CF). DTC-GT for the CFTR gene was normal. His reproductive partner is pregnant, and he wants to know whether he can be reassured that he is not a CF carrier. Are the CFTR variants in the affected family member known?
Did the DTC-GT specify which variants were tested? Does it include the variants from the family?		 For the patient’s result to be reassuring, genotyping in the patient must have 1) been accurate and 2) assessed the variants in the patient’s family member who has CF. If the answers to the questions are not clear, refer patient and partner for prenatal genetic assessment and consideration of appropriate clinical genetic testing for CF and other carrier testing as part of standard care.
DTC-GT genome sequencing results 28-year-old woman has a DTC-GT genome sequencing report that suggests she has variants in 4 different genes related to 4 different types of Ehlers-Danlos Syndrome (EDS). What service was provided by the lab - sequencing only or sequencing and variant interpretation? Is the interpretated variant report signed by a laboratory director or was it generated by a software program? Are the variants reported as pathogenic?
Does the patient have symptoms of any of these types of EDS?		 There are several subtypes of EDS, many with characteristic clinical features. It would be exceedingly rare for someone to have 4 different types of EDS. The most common type of EDS is the hypermobile type. The genes for hypermobile EDS have yet to be discovered and genetic evaluation is not generally recommended. If the patient has symptoms of Classic or Vascular EDS, refer for medical genetics assessment.
If the patient has no related symptoms, suggest the patient first use genetic counseling services associated with DTC-GT genome sequencing company to provide more information about the variants in question.
DTC-GT raw data interpretation by 3rd party vendor. 48-year-old man provides third-party interpretation results of raw data from ancestry-based testing that suggests he has a pathogenic variant associated with cardiomyopathy. Does the patient have a personal or family history of cardiomyopathy or sudden/unexplained death? There is a high rate of false positive results with third-party interpretation of raw data due to low quality of non-validated variants32. Pursue confirmation of results in a clinical lab. However, if there is no clinical suspicion for cardiomyopathy, insurance is unlikely to cover the clinical test.
Genetic counseling options may include telehealth vs traditional medical genetics clinic, depending on referral guidelines.
DTC-GT reports increased risk for an assessed condition 52-year-old woman has DTC-GT results showing “increased risk” for type 2 diabetes. Does the patient have a personal or family history of type 2 diabetes?
Does the patient have other personal risk factors for type 2 diabetes?		 DTC-GT “risk scores” or risk indicators are typically based on a small number of genetic variants that have been statistically associated with a given condition or trait. The robustness of the underlying evidence and whether the association was validated in the patient’s specific population (including age, sex, ancestry) will impact the strength of the association. In addition, such risk scores do not account for environmental factors or other non-genetic factors that contribute to disease.

Risk scores are different than monogenetic disease risks.		 Given current limitations, genetic risk associations are likely to have limited clinical utility for many patients.
Personal and family history remain the most important factors for assessing type 2 diabetes risk. Clinical judgement should guide whether additional laboratory tests are warranted or if standard care is sufficient for follow-up.
DTC-GT provides average “risk score” for various cancers 25-year-old woman provides a DTC-GT report that indicates she is not at increased risk for cancer, but she heard that this type of testing is “not the best” to understand cancer risk. Does the patient have a personal or family history that could be suggestive of a hereditary risk for cancer? “Proactive,” population-based screening genetic tests, which are intended to screen for hereditary diseases in otherwise healthy individuals, are available through clinical genetic laboratories. These tests typically focus on well-established genes and conditions that have evidence-based guidelines for prevention or early detection. Currently, proactive testing is generally not covered by insurance. Counsel about options for “proactive” clinical genetic tests that are available as screening tests for healthy populations.
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Direct-to-consumer genetic testing has been the focus of numerous studies, many of which highlight critical ethical and policy concerns39. Insufficient regulation and inconsistent standards of care are recurring themes, raising the risk of psychological harm from misunderstood or misinterpreted results. In addition, there have been privacy breaches of personal data including genetic data40,41. Consumers should understand that their genetic data are considered a company asset if the direct-to-consumer genetic testing company is ever sold or liquidated, especially given the limited protections for sensitive genetic data42. Many adults fail to grasp the limitations or potential consequences of their direct-to-consumer genetic testing results in a commercialized context43. As this body of research grows, it is increasingly clear that policy interventions are needed to address these challenges, for consumers to access the benefits of direct-to-consumer genetic testing without compromising their well-being, privacy, or trust in healthcare systems44.

Ethical Considerations in Pediatric and Adult DTC-GT

While direct-to-consumer genetic testing has been available for over two decades, it has more recently entered the pediatric space with companies marketing these services directly to parents. Like their adult counterparts, pediatric direct-to-consumer genetic testing offerings span a range of options, including trait-based associations, preventive genomic screening, and broad sequencing tests designed to evaluate clinical symptoms. However, the ethical and clinical challenges associated with direct-to-consumer genetic testing are significantly magnified in pediatric settings45.

Unlike adults, children cannot legally provide consent and may not fully understand the implications of genetic testing, raising critical concerns about autonomy, privacy, and long-term consequences. The potential psychological burden of test results, particularly those related to adult-onset conditions, can have lasting effects, influencing how children are perceived and treated by their families46. These concerns underscore the importance of professional guidance when applying direct-to-consumer genetic testing in pediatric populations, where the consequences often extend far beyond the immediate implications of test results47.

Trait-based Association Tests

Genetic tests aimed at predicting non-medical traits, such as physical attributes (e.g., height, hair or eye color) or abilities (e.g., athletic or intellectual potential), lack clinical utility and actionability, and are therefore problematic in the pediatric setting. They pose risks to a child’s psychological development, as parents may adopt unnecessary or harmful interventions, such as restrictive diets or unregulated supplements based on results. It should also be re-emphasized that the evidence supporting many of these associations is rapidly evolving and that direct-to-consumer genetic testing may not be utilizing up to date genomic models tailored to broadly representative populations48.

Preventive Genomic Screening

Preventive screening, such as newborn screening, is a cornerstone of public health that has improved health outcomes through early detection and treatment. Although current state-run newborn screening programs do not use genomic methods, advancements in gene panels and sequencing tests hold tremendous promise for expanding the range of conditions that can be detected during childhood49. Unlike trait-based tests, genomic screening tests provide results that are potentially diagnostic of a genetic condition. Currently available direct-to-consumer genetic tests, however, may include conditions with low prevalence, incomplete penetrance, or variable expressivity that may involve long latency periods requiring extensive surveillance and potentially complicated and burdensome follow-up care. Given the complexity of the conditions50 and need for medical evaluation to assess symptoms, this type of testing should be performed within a medical or clinical research context. Marketing these tests directly to parents raises numerous ethical concerns51.

Testing Minors for Adult-Onset Conditions

Testing children for adult-onset conditions is widely discouraged by clinical guidelines, including those from the National Society of Genetic Counselors, American College of Medical Genetics and Genomics, and the American Society of Human Genetics52,53,54. These organizations recommend deferring testing until the patient can make informed decisions about whether to learn their own genetic risks. Despite this guidance, direct-to-consumer genetic testing companies frequently include tests for adult-onset conditions in panels marketed to parents55,56.This practice raises concerns about autonomy and long-term psychological impact. Learning about a genetic predisposition early in life can cause unnecessary stress and anxiety, influence family dynamics, and lead to decisions that may not align with the child’s best interests57.

Paternity Testing

Direct-to-consumer genetic testing may also be used for paternity testing. This can be done within a legal context or covertly, to investigate the potential for misattributed paternity, causing emotional and familial strain58. Most direct-to-consumer genetic testing company policies fail to address the vulnerabilities of minors and families exposed to such information, exacerbating the risk of misuse. These gaps highlight the need for stricter guidelines to prevent harm and ensure ethical use of direct-to-consumer genetic testing in paternity testing58,59.

Privacy and Future Use

Privacy and the future use of genetic data are among the most critical concerns in pediatric direct-to-consumer genetic testing. While laws like the Genetic Information Nondiscrimination Act (GINA) provide protections against the misuse of genetic information in employment and medical insurance, they have significant limits60. For example, genetic information remains vulnerable in contexts such as military service, life insurance, disability insurance, and long-term care insurance. The legal framework governing the protection of genetic data generated during direct-to-consumer genetic testing is also limited, leaving significant gaps in safeguarding sensitive information. When parents submit their child’s DNA to a direct-to-consumer genetic testing company, the genetic data often become the property of the company. This allows the data to be shared with third parties, sold for research purposes, or even used by law enforcement conducting forensic investigations, often without explicit parental understanding or consent. Lastly, as company property, genomic data can be acquired as a company asset if the direct-to-consumer genetic testing company were to be sold.

Guidance for Clinicians

Clinicians play a key role in helping parents navigate questions about direct-to-consumer genetic testing for their children and can support families in making choices that prioritize the child’s long-term well-being and health outcomes. Table 4 provides strategies to guide these conversations.

Table 4.

Guidance for Pediatricians and primary care physicians (PCPs) for discussions about direct-to-consumer genetic testing (DTC-GT) in children

Strategy Explore
Assume Positive Intent

  • Begin discussions with the understanding that parents are motivated by care for their child’s well-being.

  • Parents may overestimate the utility of DTC-GT or be unaware of its risks, although their inquiries often stem from the perception that genomics is a powerful tool for health.

  • Positioned as allies in achieving these goals, PCPs can help weigh the potential risks and benefits, which often lean toward uncertainty or harm in the context of DTC-GT, especially for children.
Assess Parental Motivations

  • Understanding why parents are considering DTC-GT is critical to providing appropriate advice.

  • Parents may seek general health information, explanations for symptoms, or non-medical insights such as ancestry or paternity confirmation. Clinical genetic testing is generally better suited for investigating symptoms linked to potential genetic conditions.

  • While DTC-GT tests may offer insights into parentage or relatedness, using broad genomic tests for this purpose increases risks to the child and may not produce admissible results in legal contexts.

  • For legal purposes, specific paternity tests adhering to legal standards are recommended.
Collaborate with Genetics Specialists

  • PCPs should encourage families to consult genetics specialists but also set realistic expectations for what these clinicians can provide.

  • Genetics clinics are often unequipped to analyze raw data files from DTC-GT due to infrastructure and expertise limitations.

  • Wait times for clinical genetics appointments can be long, but PCPs can support patients and families during this period by reassuring them about the potential for false positives, especially if findings stem from unfiltered raw data.

  • Alternatively, PCPs may consider telehealth genetics services, which typically have shorter wait times, or consult genetics colleagues about ordering a confirmatory test while awaiting a formal evaluation.
Stay Informed About Genetic Testing Options

  • The field of genetics is rapidly evolving, and PCPs will likely encounter increasing inquiries about DTC-GT as these tests become more accessible and widely marketed.

  • Remaining updated on developments in genetic testing technologies, interpretation practices, and regulatory changes will help PCPs provide accurate, nuanced guidance in an ever-changing landscape.
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SUMMARY

Direct-to-consumer genetic testing has expanded public access to genetic information and can provide both clinical and other insights. However, it also presents challenges, including variable data quality, risks of misinterpretation, potential psychological distress, and the possibility of inappropriate medical actions. Privacy concerns such as the commodification and secondary use of genetic data remain insufficiently addressed, leaving consumers potentially vulnerable to misuse of their genetic data. Clinicians can play a pivotal role in guiding patients and families through the complexities of direct-to-consumer genetic testing, ensuring decisions are informed and risks are minimized.

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