Adolescent and Young Adult Perspectives on Receiving Pathogenic or Likely Pathogenic Results in a Prospective Genomic Screening Clinical Trial

Abstract

Introduction

Professional societies recommend pediatric genetic testing only when results may impact medical management in childhood. However, with increasing access to genetic information in various settings, young people’s responses to learning pathogenic or likely pathogenic (P/LP) genetic results remain understudied.

Methods

The Engaging Adolescents in Decisions about Return of Genomic Research Results clinical trial enrolled 483 adolescents and young adults (ages 13–21 years) who made decisions about whether to undergo prospective genomic screening to learn their personal results related to 32 sets of treatable, preventable, and adult-onset conditions and carrier traits. Participants (n = 15) who received P/LP results were invited to participate in an interview at least 3 months after receiving their results.

Results

Eleven individuals (ages 14–19 years) participated in an interview. Most interviewees accurately recalled their P/LP results and reported satisfaction with learning personal genetic information, despite experiencing short-lived anxiety and confusion. While participants had knowledge of relevant risk reduction and screening measures, most viewed their genetic test results as a future consideration. Several participants’ family members underwent cascade testing after learning the young person’s results. Reactions to or risk-reducing behaviors taken since learning results did not differ between disease categories associated with the result.

Conclusion

In support of a growing body of empirical research engaging young people in genetic testing decisions and outcomes, our findings suggest that young people who choose to learn genetic information about themselves understand the implications and potential actionability of P/LP results and actively incorporate results into their and their family members’ lives.

Introduction

Next-generation sequencing allows for the rapid analysis of genomic data and can reveal pathogenic or likely pathogenic (P/LP) genetic variants conferring increased disease risk. Next-generation sequencing is used in research, clinical, and commercial contexts and may reveal medically actional variants [1]. The American College of Medical Genetics and Genomics (ACMG) recommends reporting a specified set of medically actionable P/LP secondary findings, which include variants for both childhood and adult-onset conditions [2]. The public consistently expresses a desire to access their genomic data, including both secondary and incidental findings [3–13]. In the pediatric setting, however, there is ongoing debate about whether genetic testing without a known clinical indication should be offered, and in cases where it is performed, when and how to return results for adult-onset conditions that are not actionable in childhood and carrier traits that may affect future reproductive decisions [14]. Medical organizations including the American College of Obstetricians and Gynecologists (ACOG), the American Academy of Pediatrics (AAP), and the American Society of Human Genetics (ASHG) recommend against pediatric testing for adult-onset conditions unless there is opportunity for childhood intervention and call for empirical research on the psychosocial impact of predictive testing in young people [15–17]. Although pediatric genetic testing without clinical indication or actionability is not broadly recommended, scholars and professional societies advocate for involving young people in decision-making regarding the prospect of receiving genomic results [18, 19].

The question of whether to return P/LP variants for adult-onset conditions becomes especially salient during adolescence, a developmental period marked by advances in young peoples’ cognitive, social, and emotional abilities which support increasingly independent decision-making [20, 21]. While the ability to consider risk and benefits is influenced by both life experiences and cognitive abilities, studies suggest that by 14 years, most minors demonstrate a level of cognitive competency equivalent to that of adults and are capable of rational decision-making [22, 23]. Adolescence is also a period where significant life planning occurs and where reproduction is possible.

Limited research suggests that adolescents and their parents would want to learn about secondary and incidental findings in both research and clinical contexts [24–28]. However, the return of P/LP results for adult-onset conditions to adolescents and young adults (AYAs) is understudied, and little is known about perceived benefits and harms from learning these results. In a study of adolescent and parental decision-making about genetic testing of adolescents, Myers et al. [29] found that compared to their parents, adolescents wanted to learn less genomic information, highlighting the importance of including adolescents in conversations around their participation in genetic testing and outcomes of these studies. Similarly, in a study of parent and adolescent decision-making about learning personal genomic information for the adolescent, Pervola et al. [30] found that 98% of adolescent study participants wanted to make the decision to learn genomic results for themselves or involved their parents in decision-making, and parents respected and were responsive to adolescent decisions. Additionally, two studies examining psychosocial outcomes of AYA research participants who underwent genetic screening without known clinical indications found that AYAs appreciated the opportunity to make medical decisions for themselves and experienced minimal psychological harm from receiving personal genetic test results, even when results were positive [31, 32].

Benefits of genetic testing for P/LP in AYAs may include improved surveillance and earlier diagnosis, reduction of anxiety and uncertainty, and an opportunity for adjustment and incorporation into one’s sense of self, while possible harms could include ineffective interventions, alteration of self-image or familial relationships, and increased anxiety [17]. Similar analyses of potential harms and benefits occur in decision-making for genetic testing in adulthood, with some adults at risk for risk-conferring genetic variants choosing not to pursue testing [33, 34]. Without empirical evidence on how adolescents experience and respond to such results, potential benefits and harms to this population remain speculative.

Despite increasing opportunities for adolescents to participate in genetic testing, there are no established best practices for engaging adolescents in decisions about the return of genetic results. This is in part due to a scarcity of empirical data on adolescents’ experiences with genetic testing. Understanding the perspectives of adolescents who have completed genetic testing is crucial to genomic medicine as well as the successful implementation of large-scale genomic research studies which increasingly include pediatric populations. To address this gap, we examined AYAs’ psychosocial and behavioral responses to receiving genetic test results which conferred increased disease risk in the context of a nonrandomized prospective genomic screening clinical trial.

Methods

The clinical trial, Engaging Adolescents in Return of Genomic Research Results (EAS) (ClinicalTrials.gov Identifier: NCT04481061) enrolled 483 AYAs (ages 13–21 years). The clinical trial protocol is described in-depth elsewhere by Blumling et al. [35]. Briefly, AYAs and their parents (where applicable) chose whether and how much genetic information to learn about the AYA across four categories of conditions – preventable, treatable, adult-onset, and carrier status – using an electronic decision tool (https://demo.mygenechoices.com/). The panel offered in the EAS trial included 75 genes related to 32 groups of conditions, informed by ACMG and ACOG recommendations for returning personal and carrier screening results as of 2021 [36–38]. Following independent and facilitated decision-making, AYA participants and parents (where applicable) who chose to learn personal genetic information submitted a saliva or blood sample for next-generation sequencing [35]. For minor participants (who enrolled in the trial with a parent or legal guardian), results were only returned for conditions for which the adolescent and parent participant both agreed to learn, minimizing the potential for parents to opt into learning genetic information without engaging the adolescent. Once the laboratory returned results to the research team, a genetic counselor or genetic nurse returned genetic test results to clinical trial participants whose results conferred personal increased disease risk (P/LP results) and/or carrier status of an autosomal recessive condition, reported elsewhere in Grimes et al. [32], via a Microsoft Teams video visit. Participants under 18 years had a parent present for the return of results (RoR) session. Variants of uncertain significance were not returned to participants.

A member of the study team invited AYA participants who received P/LP results to participate in a qualitative interview at least 3 months after receiving their result. Invitations for interviews were sent to AYA clinical trial participants via text message, phone call, or email. The semi-structured interviews aimed to capture how participants incorporated genetic test results into their lives and that of their families, with emphasis on lifestyle choices and health behaviors, emotional well-being, and sharing of results.

Study team members conducted interviews via Zoom cloud-based software and communication platform between March 2023 and March 2025. Participants received a $35 incentive for participation in the interview. Interview recordings were transcribed, and a member of the study team with graduate training in qualitative methods coded transcripts using inductive and deductive coding methods using the qualitative data analysis software ATLAS.ti Web (version 9.22.0) [39]. The first author coded all transcripts independently using a revised codebook informed by prior research with a comparable study population and developed thematic summaries of each interview [32]. The second author then independently read all interview transcripts and noted emerging themes and salient points made by participants, followed by a second review of transcripts with the project’s aims in mind to help guide interpretations. The second author also developed brief thematic summaries of each interview. The first and second authors then compared emergent themes and key points, discussing and resolving any discrepancies in interpretation. Through this process, the study team engaged in reflexive thematic analysis to identify and describe patterns of experience across interviews [40]. This study was approved by the Cincinnati Children's Hospital Medical Center Institutional Review Board (IRB) as part of the clinical trial Engaging Adolescents in Decisions about Return of Genomic Research Results IRB# 2020-0517.

Results

Of the 483 clinical trial participants, 431 participants chose to learn personal genetic information and submitted a sample of DNA. One participant chose to learn results but opted out of receiving them after sequencing (further information regarding this participant’s decision stability can be found in Blumling et al. [41]). Of the 430 who received results, 81% (n = 347) received negative results, 16% (n = 68) received carrier results, and 3% (n = 15) received P/LP disease-risk results. This rate of P/LP results is comparable to other studies. For example, Haer-Wigman et al. [42] found 2.7% of healthy individuals from a cohort of European decent (n = 1,640) had P/LP variants in one of the ACMG’s clinically actionable variants. All 15 participants who received P/LP results were invited to participate in an interview; four individuals did not respond to our interview request and 11 completed an interview with a member of the study team.

Interviewee demographics are presented in Table 1. Participants were between the ages of 13 and 18 years when they enrolled in the EAS clinical trial. At the time of interview, 10 participants were in middle adolescence (ages 14–17 years) and one was in late adolescence (18–24 years). Disease-risk categories associated with the P/LP result are displayed in Table 1 (e.g., P/LP variant conferring increased cancer, cardiovascular, or malignant hyperthermia risk).

Table 1.

Participant demographic information

Characteristics	p value
Gender
Boy/man	4
Girl/woman	6
Nonbinary/transgender	1
Race
White	6
Black or African American	3
Multiracial	2
Age at interview
14–15	3
16–17	7
18–19	1
Disease risk category associated with result
Cancer	7
Cardiovascular	3
Malignant hyperthermia	1
Time between return of results and interview
3–6 months	5
7–12 months	4
13–35 months	2

Recall and Knowledge

Almost all participants, across disease-risk category, accurately recalled their results and provided a description of the disease or condition associated with their genetic variant.

“I only tested positive to be prone to one thing...PALB2...it just means that I just have a higher risk of getting breast cancer in the future.” (Interview 02)

“[The condition is] just basically certain types of anesthesias or muscle relaxers will essentially start a chain reaction due to a certain faulty calcium receptor in my muscle cells, which is triggered by those specific anesthesias.” (Interview 06)

“They explained that Titin [TTN] gene mutation could affect dilated cardiomyopathy... this isn’t a diagnosis, just like a mutation, which has potential to become a problem, but may not be.” (Interview 03)

Although most participants were able to recall their results and offer some description of its disease impact with minimal prompting, two participants (one with an increased cancer risk result and one with a cardiovascular disease-risk result) had difficulty describing their result and its impact to their own health, beyond recalling it was a positive result that may be passed on and affect their children.

Like recollection of results, most participants were aware of possible measures to minimize lifetime disease risk or offer earlier intervention. These included lifestyle changes, regular screening, and medication limitations related to their result.

“I started doing like more sports … I’ve tried being more healthy just in food options. But I’m not always the best at that. And then I wanted to start going out and start working at the gym.” (Interview 11)

“Every year [since learning results], I would need to have a blood sample taken. If they find any markers, then I would have either an MRI or a CT scan done to make sure that I don’t have a tumor or cancer.” (Interview 04)

“Me and [my mom] have talked about like things like, I could take preventive measures such as like, just like getting [a mastectomy]. … Probably getting my breast tissue taken out, and possibly my uterus...I [am] considering it like right when I turn 18.” (Interview 09)

“As long as I just, you know, make it clear [to clinicians] that those anesthesias absolutely can’t be used, I’m at zero risk of it happening, basically.” (Interview 06)

However, three participants were unable to identify potential screening and risk reduction measures related to their cancer or cardiac disease-risk results.

Almost all participants appreciated the option to meet with a genetic counselor or genetic nurse virtually, citing that this allowed them to ask questions about their results while avoiding traveling to and navigating the hospital for an in-person visit. One participant would have preferred to receive the results in person, as they “don’t like doing all the technology.” (Interview 10)

All participants under 18 years of age valued having their parents involved in the study because they could ask their parents questions about their results and parents could offer support throughout the study, including after RoR. Additionally, minor participants acknowledged that their parents often served as stewards of information for participants, maintaining the genetic knowledge learned in this study and its potential implications, both for the adolescent and other family members. One participant said that if given the option, they would not have participated with their parent but would still share the results with them.

“It was nice to talk to like someone if I was like … ‘what would this mean?’ Or … definitely … after … we figured … the genetic counseling. She [participant’s mother] was like taking notes and everything, writing all down … I was like, I know everything now … She has it for me.” (Interview 07)

“Just because I didn’t know a lot, and I didn’t understand a lot. And they’re [parents] there to clarify for you when you don’t understand.” (Interview 01)

“I just feel like because she’s [participant’s mother] like better at that type of stuff than I am, and she would help me understand it more if I was confused.” (Interview 05)

Mental and Emotional Implications

No participants expressed regret about choosing to learn their results. One participant, who chose to learn only treatable and preventable conditions, stated they would choose to learn all possible results if they could do the testing again. This participant expressed that they occasionally worry that there are other things that they may test positive for that they do not know about and although they realize those conditions would not be preventable, they could learn more about the disease.

Additionally, most participants reported that their results had little impact on how they view their own health and well-being. Some participants, however, reported that they were paying more attention to certain lifestyle choices or behaviors since learning their results, like diet, exercise, alcohol or drug use, weight, or sports involvement.

Although some reported that learning their positive results initially made them feel nervous or anxious, these feelings of discomfort were short lived as participants reported learning results ultimately helped them feel more prepared for the future or better in control of their health.

“I definitely think that like it made me, obviously, it made [me] nervous in that way of kind of like increasing my anxiety a little bit. But just knowing that I can help take steps to kind of try to prevent it, that definitely settles my anxiety about it.” (Interview 02)

Family Effects and Cascade Testing

Eight participants reported that their family members pursued (n = 6) or expressed interest (n = 2) in pursuing cascade testing or screening related to the AYAs P/LP result. Several family members who underwent cascade testing also received positive results for the same P/LP variant as the AYA who participated in the study.

Of the 11 interviewees, two participants had the knowledge of family history of the condition associated with their result and two additional participants had family members who previously received positive results for the same genetic variant as the AYA. However, only one of these AYA participants was aware of the P/LP variant in their family prior to participating in the EAS trial.

At the time of the interview, 6 months after receiving their result, the only young adult (YA) interviewed who received a P/LP result had not shared their results with their family. Because they were 18 years or older at the time of study enrollment, this participant consented to the study without parental involvement. This participant said they were not yet ready to have a discussion with their parents about their results and the potential implications it might have for their siblings, feeling the conversation may be difficult to approach and lead to more questions than they could answer.

“It’s one of those things, especially generationally, that you have to like approach the conversation when they’re not busy or in a calm mood and can understand that it’s not a diagnosis. My mom is a healthcare professional, but it’s also still like, it’s a very delicate thing to approach. This first is going to start with, ‘why do you know this? How do you know this? Where did you go? Where are you at? What do you mean? Explain.’” (Interview 03)

Current and Future Medical Relevance

Most participants felt their result was not currently relevant to them and felt it would become more relevant when considering parenthood, in their 30s–40s, or when result-related screening would likely start (which varied depending on the specific P/LP variant and family history). Because most participants saw results as a future consideration, most had not talked to their healthcare provider about their positive result at the time of the interview. Some said they planned to mention their result at their next annual checkup, while others did not plan to talk to their provider regarding their results until later in adulthood when it might be more relevant (i.e., reproductive considerations, recommended age for commencing screening).

Participants who felt their results were not immediately relevant for them still found it “interesting” to learn personal genetic information and that “knowledge is power.” Some participants also felt that learning their results better prepared them for future concerns.

“You just know. Instead of having it come at you like a surprise, you just know to be prepared in the future.” (Interview 01)

At the time of the interview, two participants had already discussed their results with their doctor. One participant, who received a malignant hyperthermia result, verified their results were prominently and accurately documented in their medical record to ensure safety for any future procedures, as well as documented their result in a digital watch equipped with medical alerts in case of emergency that may require the use of anesthesia. Another participant, who received a result conferring increased risk of cancer that could have presented in childhood, had begun recommended medical surveillance related to their result, including annual blood tests.

One participant, who was 18 years or older at the time of enrollment and did not participate with a parent, reported wanting to talk to a provider and begin recommended medical surveillance and testing related to their result. However, they had not yet acted due to their insurance status, as they were still on their parent’s health insurance plan and did not want to incur expenses or talk to their family about their genetic test result. This participant instead wanted to wait until they obtained their own health insurance plan and felt financially stable enough to pay for medical expenses related to recommended testing, despite their increased disease risk for a condition that may present at any age [43].

Discussion

In a group of 11 AYA research participants who received P/LP variants after undergoing genetic testing without a known clinical indication, participants experienced satisfaction with their decision to participate in genetic testing with minimal psychological harm. While results felt like a future concern for most interviewees, they largely understood the positive result and potential implications for their own health, as well as recommended preventative or surveillance measures related to their result.

Factors of Recollection

The time between receiving results and the interview ranged from 3 to 35 months, with an average of 9.5 months. Recollection of results may be a function of the limited time between RoR and interview; however, the amount of information recalled by the participant interviewed at nearly 3 years post-RoR was not significantly less than those interviewed at any other time. An additional factor to consider in recollection of results is the manner of return offered in this study. In addition to being in a virtual environment, RoR sessions included a detailed discussion of the result, risk, preventative measures, and additional potential implications, as well as a handout sent to participants containing all information discussed. The RoR sessions were similar in length and detail to a clinical genetic counseling encounter, suggesting that a comparable amount of information could be relayed in a clinical setting. Participants who received P/LP results were largely able to accurately recollect their results, further supporting findings by Lillie et al. [31] that showed adolescents and parents who received P/LP results for autosomal dominant conditions had greater accuracy and detail of recall compared to those who received carrier or negative results.

Immediate versus Future Relevance

The extent to which pediatric genetic testing should be used to benefit family members beyond the proband is a topic of debate [44]. In 2013, the ACMG recommended reporting 57 genes which were likely to cause disease when genetic testing was performed in any patient in part because secondary findings might have significant implications for the families of the patient [45]. However, ACOG and AAP argue that pediatric genetic testing and screening should be driven by the best interest of the child, with limited consideration of potential familial benefit [14–16].

In our cohort, participants discussed benefits to their families and themselves as a result of participating in the study. Eight participants indicated family members either completed (n = 6) or intended to pursue (n = 2) cascade genetic testing. At the time of the interview, multiple family members had already been identified as having P/LP genetic variants. ACMG highlights the potential benefit to the family of young people undergoing genetic testing because it facilitates the identification of risk and opportunities for intervention (i.e., cascade testing, regular screening, prophylactic therapy), increasing the potential for earlier intervention or prevention of adult-onset conditions [46]. AYAs in our study described minimal negative mental and emotional effects from learning P/LP results about themselves, contributing to a growing literature suggesting that pediatric genetic testing may not pose significant emotional risk to young people [31, 47, 48]. Instead, learning this information as a young person may help AYAs and their families adapt to potentially impactful genetic information during a period of psychological flexibility [32, 49, 50].

In addition to helping identify other at-risk family members, results guided participants to be more conscientious about healthy lifestyle choices, like regular exercise, healthy diets, and avoiding substance use. Previous research, largely in adult populations using direct-to-consumer genetic screening tools, reported mixed findings with some studies demonstrating genomic screening has no effect on diet and exercise habits [51–53] and others finding a modest positive impact on healthy choices [54–56]. Our study relies on AYA participants’ accounts of their lifestyle behaviors and does not directly measure exercise, diet, and substance use activity nor does it incorporate longitudinal evaluation of behavior changes or future morbidity and mortality related to disease results. Self-reported behaviors and medical encounters may best be utilized in conjunction with longitudinal electronic health record data to better evaluate health outcomes of learning P/LP variants over time [57].

Behaviors of participants who may immediately benefit from learning positive P/LP results varied. One participant, who received a malignant hyperthermia result, had future medical procedures scheduled that would potentially include the use of anesthetics that may cause life-threatening complications. After learning the result, this participant ensured their medical providers were aware that they should not be given certain medications. Another adolescent, who received a result conferring increasing cancer risk, had already initiated annual laboratory screening at the time of the interview. However, this participant was unaware of their screening results and relied on their parent to maintain this information and future screenings, highlighting how young people may “hand-off” genetic knowledge to parents [31]. The YA who participated in the EAS clinical trial without a parent wished to begin recommended screening for the condition but remained on their family’s health insurance plan and did not want to impose screening costs on their parents. The variety of actions taken by participants who received results with immediate clinical relevance displays the complexity of learning genetic information as a young person. Factors such as parental stewardship of information, health insurance coverage, cost, and existing medical conditions and healthcare needs impact how genetic information is utilized by AYAs.

Appropriate Timing of Genetic Testing

The legal distinction between minors and adults does not account for adolescence as a period of developing decision-making ability without legal independence to do so. Although research has suggested adolescents are capable of rational decision-making [22], human subjects research regulations set 18 years as the age of consent in most jurisdictions in the USA, meaning adolescents cannot legally consent to participate in genomic research regardless of decisional capacity [58]. Nevertheless, all interviewees believed adolescents should have access to personal genetic data and felt they were old and mature enough to receive their results, at whatever age they were when they learned results (from 13 to 18 years). The importance of engaging adolescents in a collaborative decision-making process with their parents, as opposed to the parent making a unilateral decision on genetic testing for the adolescent, cannot be understated, as active decision-making likely contributes to participants’ confidence in learning genetic information for themselves. This finding is consistent with prior literature suggesting that adolescents and parents alike find a collaborative multistage decision model to support decision confidence, understanding, and independence [59].

The study team’s prior work with 13- to 21-year-old EAS participants who made a range of decisions about what results to learn for themselves found that in adolescents of ages 14 years and above, decisions about genetic testing were very stable and decision conflict levels out at 16 years [41, 60]. This cohort of interviewees, all aged 14 years and older at the time of interview, demonstrated decision stability and were satisfied with their decision to take part in the study.

The binary framework of childhood versus adulthood overlooks adolescence and young adulthood as a distinct developmental period. For one participant, the genetic counselor recommended that they initiate screening, but they had not done so because they did not want the testing to go through their parents’ insurance. This case reveals an unanticipated consequence of giving genetic information to YAs who are more likely to face financial limitations, rely on family members for health insurance, and still depend on their parents in a variety of ways. This participant’s response is consistent with existing literature on YAs’ medical functional independence. YAs have variable and often limited health insurance literacy, as well as lower insurance enrollment and less regular engagement with medical services compared to adolescents [61, 62]. Many YAs, especially those with chronic conditions, can feel overwhelmed with the transition from pediatric to adult care resulting in disengagement from services [63]. As seen in this YA who received a P/LP result in a research context, concerns about confidentiality are common among young people, particularly for those on their parents’ insurance plans [64, 65]. Thus, although the YA population may be legally independent and able to make rational decisions, limited functional independence may hinder their ability to act on P/LP results.

Limitations and Next Steps

This study was limited by cohort size. With only 11 participants, we cannot draw conclusions about AYAs’ reactions to genetic testing on a large scale; instead, we aim for this research to contribute to existing literature of AYA genetic testing and RoRs conferring personal disease risk and to promote future research with larger and longitudinal cohorts. Additionally, participants reported psychosocial impact of learning genetic results conferring increased risk of disease at least 3 months following RoR, limiting our understanding of short-term distress AYAs may experience immediately following RoR that may be relevant in developing best practices for supporting young people undergoing genetic testing. Quantitative analysis of decisional regret one week after learning results within the larger clinical trial found that decision regret was low among AYAs who learned genetic test results, but uncertainty in decision-making may impact post-RoR decision regret [66].

The potential for selection bias also exists in those who choose to participate in a research study. These participants may generally be more knowledge seeking and more likely to be health literate and/or have parents who are health literate. Additionally, participants with a family history of potentially inheritable conditions may have been more likely to enroll in the larger EAS clinical trial cohort than individuals with no family history of inheritable conditions.

Because interviews were conducted virtually, it is possible participants were not alone during the interview, and they may have had parents off-screen. Potential outside influence may impact our conclusions regarding participants’ ability to accurately recall and explain their results.

Conclusion

In a small cohort of AYAs who received P/LP results upon prospective genetic screening in a clinical trial, most participants were able to accurately recall their results and were satisfied with their decision to learn their results. While most participants believed their results would be more relevant for medical intervention and reproductive decision-making in adulthood, some participants experienced immediate implications, such as beginning recommended screening and adjusting lifestyle behaviors. Our results support a small but growing body of literature that suggests AYAs can make decisions about learning genetic information independently and collaboratively that may potentially benefit themselves and their families with earlier disease detection and preventative measures without inducing significant psychosocial harm. Future research may benefit from a larger cohort and by following young people’s health behaviors into adulthood after receiving genetic test results in adolescence or young adulthood.

Acknowledgments

The authors would like to thank Cynthia A. Prows and Rebecca Sisson for their contributions to the Engaging Adolescents in Decisions about Return of Genomic Research Results clinical trial.

Statement of Ethics

The study protocol was reviewed and approved by the Cincinnati Children’s Hospital Medical Center Institutional Review Board as part of the research project, IRB number 2020–0517. Written informed consent was obtained from participants and their parent/legal guardian (when applicable) to participate in this study.

Conflict of Interest Statement

The authors have no conflicts of interest to declare.

Funding Sources

This study was supported by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (award number R01-HG010166 to Melanie F. Myers and Michelle L. McGowan, principal investigators) and Mayo Clinic. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

Author Contributions

J.A.S. and M.L.M. confirm that they have full access to all the data in the study and take responsibility for the integrity of the data. All authors gave final approval for this version to be published and agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. J.A.S. contributed to data collection, data analysis and interpretation, and drafting and revision of the manuscript. M.L.M. and M.F.M. contributed to study conceptualization and methodology, funding acquisition, supervision, data collection, and revision of the manuscript. E.C.D. contributed to data analysis and interpretation and drafting and revision of the manuscript. E.M.M. and C.L.B. contributed to revision of the manuscript.

Funding Statement

This study was supported by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (award number R01-HG010166 to Melanie F. Myers and Michelle L. McGowan, principal investigators) and Mayo Clinic. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

Data Availability Statement

The data that support the findings of this study are not publicly available to maintain anonymity of participants but are available from the corresponding author upon reasonable request.