Pediatric DTC Genetic Testing for Adult-Onset Inherited Cancer Risk: The Perspectives of High-Risk Parents

Over 100 million people have submitted their DNA to direct-to-consumer (DTC) genetic testing companies [1]. 23andMe, the largest provider of DTC genetic testing, currently offers testing to detect specific pathogenic variants, including those associated with adult-onset hereditary breast, ovarian, prostate, and pancreatic cancer (BRCA1, BRCA2, HOXB1) and colon cancer (MUTYH). The availability of DTC genetic testing for disease susceptibility has raised bioethical concerns about informed consent, test limitations, consumers’ ability to interpret results, potential psychological distress, and data privacy [2‒6]. Despite these concerns, some companies accept and analyze genetic samples from children (i.e., those under the age of majority and full legal responsibility) to assess ancestral background and adult-onset disease susceptibility. Testing for the latter conflicts with clinical practice and policy guidelines from leading oncology, genetics, and pediatrics organizations that discourage testing of minors for adult-onset disease risks, including predisposition to inherited cancers [7‒12]. This recommendation is primarily justified by the fact that variants indicating susceptibility to adult-onset conditions are rarely medically actionable in childhood. Given that risk-reducing medical interventions are not recommended before adulthood, advanced knowledge of children’s genetic status may lead to psychological distress in children and families without immediate benefit.

Despite these recommendations, several studies have shown that some parents believe they should be able to clinically test their children for an inherited risk of adult-onset diseases [13‒20]. Moreover, in one study evaluating nearly 1,000 adults who underwent DTC testing for themselves, most parents in that study (over 80%) endorsed the use of DTC genetic testing in children [21]. Parents may use DTC testing for a variety of purposes, including to explore ancestry. However, these parents may incidentally learn their child has genetic health risks [22]. Alternatively, parents who know that they carry a pathogenic variant assessed by a DTC company may pursue DTC testing to determine whether their children inherited the same variant. Additionally, some parents may submit their children’s raw genotype data from DTC companies to third-party interpretation services. However, they may not realize that both raw data and its interpretation can be fraught with errors, potentially undermining their validity [23].

When parents use DTC testing, they face several risks: they may receive incorrect or incomplete results, miss out on vital education and counseling before and after testing, and deprive their children of the choice to decide if and when to undergo testing in adulthood. Moreover, parents risk compromising their children’s present and future privacy as most DTC companies retain DNA samples indefinitely and may share data with third parties [24, 25]. Furthermore, children may experience psychological and emotional harm, depending on whether, when, and how parents choose to disclose test results and how parents interact with them after learning their results [26]. Due to these concerns, several professional organizations have recognized the importance of genetic counseling when considering genetic testing for children. Unfortunately, such counseling is typically not included with DTC services [7‒9, 27].

The current study built on prior work indicating that some high-risk parents who underwent genetic testing for an inherited risk of breast/ovarian cancer, as well as other common adult-onset conditions, strongly favor making genetic testing available to minors [20, 26]. Currently, there are limited empirical data examining the perspectives of high-risk parents on testing children for adult-onset hereditary cancer risk through DTC companies. To address this gap, we sought to investigate parents’ attitudes and beliefs about the potential benefits, risks, and limitations of pediatric DTC genetic testing for adult-onset cancer risk in comparison to clinic-based testing.

Potentially eligible parents who had previously given permission to be recontacted for ancillary studies were recruited from two research registries: (1) the Prospective Registry of MultiPlex Testing (PROMPT) and (2) AliveAndKickn. PROMPT is an online registry of adults who have undergone multiplex gene panel testing for genes associated with an increased risk of cancer. AliveandKickin is an online advocacy organization that maintains a database of adults with Lynch syndrome who are interested in research. Participants for this study were drawn from a pool of high-risk parents (N = 126) who were originally enrolled in those research registries and consented to be part of an ancillary study surveying high-risk parents’ opinions about pediatric genetic testing for cancer risk [16]. All parents had a pathogenic variant in a dominantly or recessively inherited adult-onset cancer predisposition gene that was included in a DTC genetic test (BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, or MUTYH), and some had previously undergone genetic counseling. Participants were asked to enumerate children in their households, including their ages and sexes. An index child (10–21 years) was chosen by the study team using the “next birthday” method to serve as the study’s referent [28]. For the purposes of this study, age 21 was determined to be the upper limit of “childhood” because cancer screening and genetic testing are not typically initiated until young adulthood (e.g., ages 22 and up). At the close of the survey, parents were asked for permission to be contacted for a key informant interview, and all parents who responded “yes” were interviewed (N = 30; n = 24 from PROMPT [80%] and n = 6 from AliveAndKickin [20%]). Predefined sampling quotas were established in stratified categories to represent subpopulations of interest. Upon completion, parents were entered into a drawing for a chance to receive a USD 50 gift certificate for their time. The protocol was approved by the relevant Institutional Review Boards for the participating medical centers and registries at Georgetown University and the Chesapeake IRB (on behalf of PROMPT, Memorial Sloan Kettering Cancer Center, and the University of Pennsylvania).

The key informant interview phenomenologically explored parents’ opinions on genetic testing for adult-onset inherited cancer syndrome risk in their children, including parents’ thoughts about involving children in such decisions. These opinions were solicited regardless of whether their child had been tested. Interviews explored reasons behind parents’ opinions and decision-making regarding testing, the role of clinicians before or after testing, the communication of test results to children, and the permissibility of DTC genetic testing during childhood. Additionally, interviews investigated parent-clinician communication, children’s understanding of genetic testing, and parents’ insight into knowledge, attitudes, and experiences with both DTC and clinical genetic testing for children. Ranging in length from 13 to 50 min (M = 26.4 min, SD = 8.1 min), interviews were conducted in English and in private via telephone by a trained, bachelor’s-level female project assistant with expertise in behavioral research (co-supervised by two doctoral-level psychologists; J.G.H. and K.P.T.) and audio recorded and supplemented by field notes. No participant was interviewed more than once. Variation in interview length can be attributed to the amount of detail provided by parents in response to interview probes. Recordings were transcribed verbatim using digital speech-to-text software. Two independent coders cross-checked and edited transcripts to ensure accuracy for data analysis. The coders excluded names, identifying information, and aggregating data for additional masking. Transcripts were not released back to study parents for comment, nor were preliminary findings.

Transcripts were then uploaded into NVivo version 14 (Lumivero), a commonly used qualitative data management system. Each transcript was indexed for parental sociodemographic and clinical features to facilitate linking similar categories in analyses, if necessary. Following well-established thematic data analytic methods [29], the senior coder (J.G.H.) developed a coding scheme by completing a line-by-line review of responses and then grouping them into conceptually distinct units. These unit codes were labeled with key phrases that reflected underlying content domains, using parents’ own words whenever possible to preserve their voices in our analysis. First-level codes were then grouped into conceptually similar second-level codes. Detailed codebook definitions were created and used to content-code the remainder of the interviews in an iterative fashion. Another senior coder (B.N.P.) and two other coders (K.P.T. and M.R.Y.) then applied the codes to a random selection of transcripts, discussed discrepancies, reconciled differences in code usage, and further defined the codebook, codes, and code applications. Transcripts were independently coded by coding pairs: a set of 10% of all coded statements was randomly chosen for quality control. Intercoder agreement exceeded the prescribed threshold (K > 0.70), and discrepancies were resolved by consensus. Interviewing and coding were completed upon reaching saturation. Stratified frequency tables derived the number of transcripts to which each code was applied (one transcript per participant) and the number of times each code occurred (code frequency), producing illustrative themes within the data. For the purposes of data interpretation, we apply a series of hierarchically ordered adjectives for the range of percentages and as suggested in the research literature (“none” = 0%, “few” = 1–25%, “some” = 26–50%, “many” = 51–74%, “most” = 75–99%, and “all” = 100%) [30].

Parents (N = 30) carrying pathogenic cancer predisposition gene variants served as key informants: n = 5 had children who had previously undergone genetic testing for adult-onset inherited cancer syndrome risk (n = 3 through a DTC company, n = 2 through a clinician). Most parents were in their mid-40s, female, white, college graduates, middle class, in a partnered relationship, with both a personal and family history of cancer, and raising two children (Table 1). The sample of those who were interviewed was comparable to the larger population from which they were drawn.

Emergent themes regarding parents’ attitudes and beliefs about pediatric genetic testing for adult-onset hereditary cancer risk included (1) general considerations regarding pediatric genetic testing, (2) the relative risks and benefits of DTC and clinical genetic testing, and (3) the involvement of children in decision-making about such testing (Table 2). Major themes and their subthemes are organized by their relative frequency; percentages are included to reflect the proportion of transcripts in which these themes occurred.

Most parents (n = 25, 83%) did not pursue testing for their own children (prior to age 18) and may not have personally endorsed such testing. Yet parents identified a range of possible merits for pursuing testing in children more broadly. For example, one consideration offered by many parents (73%) was that testing might provide important health information that could be used to manage cancer risk and prevent or mitigate poor outcomes. Further, medical indications (e.g., family history of early-onset cancer) were reported by many parents (67%) as a potential driver of parental interest in pediatric genetic testing. Some parents (50%) also posited that early testing of children could prepare families psychologically, behaviorally, and practically for future cancer risk management (e.g., by enabling them to establish screening early on and to prepare financially). Some parents (43%) also acknowledged that testing may help parents gain peace of mind by eliminating uncertainty about whether a child inherited the pathogenic variant present in their family. This was expected to be true even if a child were to test positive because learning about the child’s genetic risk may still reduce anxiety and fear of the unknown, both for parents and children.

We next probed parents’ thoughts and feelings about the specific risks and benefits of testing children through a DTC company compared to the traditional clinic-based route, which often includes patient education and counseling. Below, we discuss subthemes illustrating parents’ perspectives on these different testing routes (DTC vs. clinic-based) and their rationales for preferring one method over another.

Parents tended to support genetic testing through a clinician (e.g., a pediatrician or genetic counselor) rather than through a DTC company and cited several reasons for this preference. Many parents (53%) cited that a clinician can offer a personalized counseling experience that better supports the family (both medically and psychologically). Some parents (47%) further suggested that undergoing genetic testing through a clinician would lead to a better understanding of their child’s results because the clinician has the expertise to dispel misinformation and help parents contextualize and interpret findings. Another benefit of testing through a clinician, articulated by some parents (47%), was that the provider can use their knowledge of a child’s family health history to recommend and order a broader range of genetic tests (and tests that are more accurate and updated) than what is available through DTC companies.

Parents recognized that DTC testing may or may not be appropriate for children and carries both advantages and disadvantages. Many parents (57%) voiced concerns about the reliability and clinical validity of DTC genetic tests, including the possibility of receiving false-negative or false-positive results. However, parents also endorsed several potential benefits associated with DTC genetic testing compared to clinical testing. Either singly or in combination, these benefits included affording greater privacy, allowing access to genetic information outside the healthcare system (which some families avoid or cannot otherwise access) and being convenient and easy. Two of the five parents who had their children tested chose the DTC route specifically because they had previously used the same DTC service themselves.

Echoing sentiments expressed previously, some parents (both who had and had not tested their children through DTC; 40%) believed that they should have the option to pursue DTC testing for their children. Although many other parents disagreed, contextual and developmental considerations (e.g., maturity levels, interest in testing, and anticipated psychological outcomes) were still acknowledged as factors that must be taken into account when deciding whether to involve children in genetic testing. For example, many parents (70%) emphasized that their decision to involve their child in the genetic testing process would depend on the child’s level of social-cognitive development and overall maturity. From these parents’ perspectives, maturity was likely to be reached during the later teen years when children start to make other major life choices with increasing independence. Although it was recognized that children have an interest in making autonomous choices about their bodies and health, their ability to adapt to their test results would influence decisions about whether and to what extent they, as parents, would involve children in the testing process. Some parents (50%) further maintained that they would involve their children if they felt that the child’s understanding of the testing process and the potential implications of results were sufficient for the child to make an informed choice.

Most parents (77%) also felt that children’s expressed interest in pursuing genetic testing and learning their results was highly pertinent to whether they would involve children in decisions about the testing process. Some noted that if their child were interested, they would want to engage in conversations with their child to understand the reasoning behind it. Moreover, some parents (43%) expressed that the decision to involve children in the testing process would largely depend on how parents thought the child would react (e.g., psychologically, behaviorally) to an offer to pursue testing. It was also recognized that other challenges or life events (e.g., social or school transitions) that their child may be experiencing, including cancer in a parent, would further influence decision-making.

Although professional guidelines discourage predictive genetic testing in children for adult-onset conditions, opportunities to test children have become more accessible, particularly through the growing DTC market. We interviewed parents carrying pathogenic variants associated with a range of adult-onset hereditary cancer syndromes. Our objective was to explore their perspectives and opinions on DTC genetic testing for children, including the potential risks and benefits of both DTC and clinical testing options, regardless of their personal experiences with pediatric genetic testing broadly or DTC genetic testing specifically.

While most parents in our study had not sought genetic testing for their children, they still acknowledged its potential benefits for some parents. For example, they may want a child to undergo testing if it could yield clinically actionable information for cancer risk management (e.g., in late adolescence or early adulthood) or if there was a compelling medical indication (e.g., a family history of early-onset cancer). These motivations apply to both DTC testing and clinical genetic testing and align with prior research on the reasons adults often give for pursuing genetic testing themselves [31, 32].

However, as evidenced by parents’ assessments of the risks and benefits of DTC, the possibility of learning health information must be balanced against the potential harms. Notably, parents seemed to have perceived DTC testing as particularly risky given that they generally preferred clinical testing over the DTC route. While parents identified various benefits associated with DTC testing, such as privacy, affordability, and convenience, they also noted that clinicians were better positioned to offer more comprehensive and accurate information. Concerns about the accuracy of results through a DTC company were raised, highlighting the need to explore this issue before such testing is pursued and to ensure that families receive robust post-test support. This uncertainty about the accuracy of DTC results may lead parents to seek confirmatory clinical testing, a highly recommended step before making any medical decisions based on DTC results [33]. Consequently, even parents who initially opted for DTC testing to bypass the clinical setting may eventually rely on clinicians to order and interpret subsequent genetic tests. The critical question, then, is whether the potential benefits of resolving uncertainty about a child’s genetic status through clinical confirmation – which may help to alleviate distress in families – justifies the risks and complexities associated with pediatric genetic testing [17, 34].

Parents recognized the need to consider a child’s age and developmental stage in deciding whether, when, and how to proceed with testing. Parents emphasized the importance of a child’s social and cognitive maturity – which usually corresponds to age – in determining their readiness to grasp and handle the implications of testing. Parents also raised concerns about the emotional and psychological impact of the test results on themselves or their children, though these concerns were raised by less than half of the parents. Interestingly, while parents welcomed involving their children in the decision-making process, they also felt that children should not have the final say over choices about testing, even if they express interest. These results, although discussed in the context of DTC genetic testing, align with those raised by clinical testing as well [13, 20].

As DTC services expand, it remains to be seen whether high-risk parents will consider these options for themselves and their children. Moving forward, a practical approach is for clinicians to use their time with parents, and potentially children, to provide education and guidance that supports the family’s decision-making process [35‒37]. During conversations between parents and clinicians about when and how to share parental test results with children, the conversation could naturally expand to cover DTC testing options, exploring their potential advantages and disadvantages while addressing common misconceptions. Clinicians should also explain professional guidelines that recommend against testing. To promote informed decisions and favorable outcomes, it is essential that clinicians serve as a resource for parents, emphasizing the importance of allowing children to make their own decisions upon reaching adulthood. Given the concerns about DTC testing expressed by parents in this study, clinicians should be prepared to meet families’ post-testing needs. Clinicians might also need to be ready to guide parents who ultimately sought testing for their children – even though the testing was not concordant with clinical guidelines. Furthermore, the frequent misinterpretation of DTC genetic test results by consumers underscores the need for enhanced parental education and support, both before testing and, if needed, when managing their children’s results [38‒40].

As professional guidelines evolve and DTC companies develop their own policies on pediatric genetic testing for adult-onset conditions, input from key stakeholders – including parents like those interviewed for this study – is crucial [40]. The increasing prevalence of DTC testing necessitates equipping both parents and clinicians with the necessary education and guidance to engage in meaningful conversations about the timing of testing, as well as the potential risks, benefits, and limitations of DTC testing compared to clinical options. Doing so will help ensure that families are well supported throughout the decision-making and testing process. Equally important are the responsibilities of DTC testing companies to their consumers. Specifically, companies should clearly communicate to consumers the possible risks and benefits of testing children, particularly for high-risk conditions associated with cancer predisposition genes.

This study has several limitations that affect the generalizability of its findings. First, the sample size was modest, and few parents had children who were tested as minors. Any conclusions drawn should be limited to those with pathogenic variants associated with adult-onset hereditary cancer syndromes. Second, the research registry sources and homogeneity of parents’ demographic characteristics are limitations of this study and attenuate external validity. Most parents were female, white, college educated, and had higher income. Future research with more representative study samples would be beneficial. Third, the parents who participated in this study are likely to be highly engaged, proactive information seekers, and interested in research related to pediatric genetic testing. The study lacks data on whether they had undergone DTC genetic testing themselves: research with parents who participated in DTC testing could be informative. Fourth, the ancillary study provided participants with a gift card as compensation for their time and involvement, which may have introduced bias. Fifth, parents who did not participate in this study or who were not interested in, or did not endorse, such testing may hold views that diverge from those expressed here. Sixth, most parents in this study had not tested their children using a DTC panel. Thus, their responses to interview items primarily relied upon their perceptions of hypothetical, rather than of their actual, experiences. Collecting additional data from parents who have pursued DTC testing of their children could yield valuable insights into existing challenges and inform evidence-based recommendations. Finally, we included quantitative results (frequency counts and percentages) in our data table to facilitate comparisons between themes and reduce ambiguity, supplementing the qualitative descriptors typically used in such research (e.g., “most,” “some,” etc.). However, we acknowledge that this approach has limitations. Specifically, the quantitative data should not be interpreted as statistically representative or generalizable; our findings are specific to this study’s context and participants, and caution should be exercised when considering their applicability to other settings or populations.

Despite these limitations, the findings from this study, along with emerging trends in the growing literature on parental attitudes toward predictive genetic testing in children, underscore the need for greater dialogue among clinicians, high-risk parents, and their children. This communication is crucial for navigating decisions about the timing and appropriateness of genetic testing, particularly in light of the increasing availability of DTC testing for adult-onset cancer risk.

The authors would like to thank the study staff and participants for their involvement in this research.

The protocol was approved by the relevant Institutional Review Boards for the participating medical centers and registries at Georgetown University and the Chesapeake IRB (on behalf of PROMPT, Memorial Sloan Kettering Cancer Center, and the University of Pennsylvania). At Georgetown University, the Approval No. is 00002978. Written informed consent was obtained from participants for their participation in research and publication of their data.

The authors have no conflicts of interest to declare.

This study was supported by CA246589, CA051008, CA008748, and CA016520 from the National Cancer Institute at the National Institutes of Health. The funding source had no influence on the study design; the collection, analysis, and interpretation of data; the writing of this manuscript; or the decision to submit the manuscript for publication.

K.P.T., J.G.H., B.S.W., L.F.R., and B.N.P. conceptualized and designed the study and, along with M.M.S., drafted the initial manuscript and critically reviewed and revised the manuscript. K.P.T. and J.G.H. designed the data collection instrument and collected data and, along with M.M.S. and C.S. carried out the initial analyses and critically reviewed and revised the manuscript. M.K.K., T.Z., M.R.Y., J.B., H.O., R.S., B.T., S.M.D., C.I., S.V., and M.R.S. critically reviewed and revised the manuscript for important intellectual content. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

The data that support the findings from this study are not publicly available due to their containing information that could compromise the privacy of research participants. Further inquiries can be directed to the corresponding author.