Abstract
Purpose:
With increased use of genomic testing in cancer research and clinical care, it is important to understand the perspectives and decision-making preferences of adolescents and young adults (AYAs) with cancer and their treating oncologists.
Methods:
We conducted an interview substudy of the BASIC3 Study, which enrolled newly diagnosed cancer patients <18 years of age with assent. Of 32 young adults (YAs) with cancer who reached the age of majority (AOM; 18 years) while on study, 12 were successfully approached and all consented to study continuation at AOM. Of those, seven completed an interview. Patients' oncologists, who enrolled and participated in return of clinical genomic results, were also interviewed (n = 12). Interviews were transcribed, deidentified, and analyzed using thematic analysis.
Results:
YAs cited the possibility of helping others and advancing science as major reasons for their assent to initial study enrollment and their willingness to consent at AOM. YAs thought obtaining informed consent from research participants for study continuation at AOM was a good idea in case they changed their minds or wanted to make their own decisions, and to keep them aware of study activities. There was diversity in what YAs understood and learned from genomic testing: some recalled specific findings, while some remembered minimal information about their results. Oncologists varied in their assessment of adolescents' engagement with the study and understanding of their results.
Conclusion:
Given the different ways AYAs engage with genomic information, careful assessment of AYAs' diverse communication and decision-making preferences is needed to tailor interactions accordingly.
Keywords: AYAs with cancer, genomic research, genomic sequencing, assent, age of majority consent, interview
Introduction
Clinical and ethical practice guidelines recommend meaningfully engaging adolescents and young adults (AYAs) when considering genomic research and testing.1–3 Research has shown that both AYAs with4 and without5,6 clinical indication of a possible genetic disorder appreciate having a role in decision making about genomic testing. However, little is known about decision-making preferences and experiences regarding genomic testing among AYAs with cancer. As such testing is increasingly used in cancer research and clinical care to understand cancer predisposition and tailor therapies,7 more AYAs with cancer will face these decisions. While there is consensus that medical professionals should include AYAs in research decisions,8–10 there are complexities, particularly for pediatric cancer patients. Psychosocial distress from having cancer may impact AYAs' decision-making preferences.11 One interview study (not genomics-focused) found AYAs with cancer felt the physical and emotional stress of a cancer diagnosis influenced their preferences regarding receiving caregiver support when making decisions about clinical research participation.12
Participation of AYAs with cancer in longitudinal research studies during which they reach the age of majority (AOM; defined as 18 years of age in most U.S. states) presents an additional challenge. AOM consent is resource intensive and practically challenging, given that young adults (YAs) may not return regularly for follow-up care after treatment13 or may transition to adult care. Some have made the case against AOM consent for minimal risk biobanking studies14 and medical record reviews.15 Others, however, have found that adult survivors of childhood cancer preferred consent be obtained at AOM for use of their biological samples and clinical data.16 Furthermore, studies including return of genomic sequencing results could have implications for health or reproductive decision making and therefore may be more than minimal risk.
Research with AYAs suggests that their preferences around genomic research do not always align with those of their parents.17 Compared with their parents, AYAs have reported higher decisional conflict related to genetic testing18 and a desire to learn less information from testing.19 However, these studies focused on AYAs without cancer. Therefore, a better understanding of the decision-making process of AYAs with cancer for consenting to and participating in genomic research is needed.
We conducted an exploratory interview substudy with YAs with cancer and pediatric oncologists treating AYAs with cancer who were enrolled under age 18 with assent in a genomic research project that included return of clinical genomic sequencing results. The aim of this study was to explore the decisional preferences related to genomic research of AYAs with cancer and their engagement with genomic results. We discuss considerations for clinical research practice around engagement of AYAs with cancer in decisions about genomic research and testing and paths for future research.
Materials and Methods
The BASIC3 Study
The BASIC3 Study was conducted at the Baylor College of Medicine (BCM) and Texas Children's Hospital (TCH) from 2012 to 2017 (including the study extension period) as a part of the NHGRI Clinical Sequencing Exploratory Research Consortium. The BCM Institutional Review Board approved the study, which enrolled pediatric cancer patients and their parents and pediatric oncologists to evaluate the incorporation of exome sequencing (ES) into clinical care.20,21 Oncologists and study genetic counselors returned results of germline ES and tumor ES (if available) in person to patients (where appropriate) and their parent(s). Results returned as a part of the BASIC3 study were standardized. All families received a germline report with findings related to: mutations indicating a cancer predisposition syndrome, medically actionable genes unrelated to cancer predisposition, pharmacogenomics, variants of uncertain significance, and, if parents opted in during enrollment, recessive carrier status.20,21 If there was sufficient tumor sample for testing, families also received a tumor report with results related to tumor-specific somatic mutations.20,21
Families were also provided the genomic test report and a counseling letter in lay language summarizing the results.22,23 Results were incorporated into patients' medical records. Patients' clinical information and age were abstracted from the medical record by the study team and entered into a database developed specifically for the BASIC3 study. The BASIC3 clinical genomic testing was performed by the study and directly entered into the study database. At enrollment, parent(s) provided patients' race and ethnicity and date of birth.20 Oncologists' demographic information was self-reported at enrollment.
Patient consent at the AOM
All patients under 18 years of age (adolescents) were initially enrolled in the BASIC3 study with standardized informed consent, obtained from their parent(s) or legal guardian(s) through a study coordinator. Patients over the age of seven provided age-appropriate assent as per the hospital's Standard of Procedures.21 The study team attempted to contact YA patients who reached the AOM for consent (18 years of age), either in person or by phone, up to three times during the BASIC3 study and the study extension period through August 2017. Potential insurance implications and other risks were addressed during the assent and AOM consent processes. Optional study procedures discussed at AOM consent included the use of tumor tissue from any additional surgeries for research, a clinic visit to review study testing results in a session with one of two study genetic counselors, and future recontact for research study purposes, including participation in an interview.
Patients were informed they could withdraw from the study and have their remaining samples discarded. It was explained that if their samples had already been analyzed, their genomic information would stay in the medical record as well as scientific databases (if their parents had agreed to that at study enrollment).
Participant interviews
We attempted to contact all YA patients who consented at the AOM up to three times by phone to invite them to participate in a semistructured interview. The AOM patient interview guide asked patients about their experience in the study, their enrollment decision-making process, what they learned from their ES results, and their decision-making process and opinions on AOM consent (Supplementary Data S1). Interviewees chose which language—English or Spanish—in which they preferred the interview be conducted. AOM interviews were conducted by BASIC3 study investigators trained in qualitative interviewing techniques (A.M.G., J.M.). All AOM interviews were conducted in English (as per the stated language preference of YA interviewees) between August 2016 and April 2017. Interviews with YAs were conducted in-person or over the phone and audiorecorded. Recordings were professionally transcribed and checked for accuracy by the study team. Patients were given USD$25 for completing the interview.
We interviewed treating pediatric oncologists enrolled in the BASIC3 study at three time points: at enrollment, after the return of genomic results to their first five patients in the study, and then 1 year later.22 Oncologists were interviewed by senior-level BASIC3 study investigators trained in qualitative interviewing techniques (A.L.M., J.M.). We have previously reported detailed methodology regarding the BASIC3 oncologist interviews, including interview guides as well as findings specifically related to oncologists' experiences integrating their patients' genomic results into their cancer care.22 In this study, we report findings from an exploratory analysis of yet unreported findings from those oncologist interviews specifically related to questions asked at the two post-return of result time points about oncologists' experience (if applicable) returning results to AYA patients and their families22 (Supplementary Data S2).
In the oncologist interviews at both time points, the interviewer probed about any patients who were old enough to participate in the discussion about the results. Given the broad range of possible patient ages, oncologists were not asked about patients of any specific age. Oncologists who provided responses relevant to this article may not have been the same oncologists who treated the YAs interviewed and thus oncologists' views could relate to AYAs with cancer in the BASIC3 study other than those YAs interviewed.
Qualitative analysis
The qualitative data analysis program MAXQDA (Version 2018.2.4; VERBI Software GmbH, Berlin) was used to manage all oncologist and AOM interview transcripts. Detailed methodology regarding analysis of BASIC3 oncologist interviews has been previously published.22 In the previous analysis, data identified as being related to AYAs were not analyzed. In the present exploratory study, two coders (A.M.G., J.O.R.) used thematic analysis to analyze those data24 using the same approach as that described below for the AOM interviews.
A multilevel analytical process was utilized to code, abstract, and interpret themes in the interviews.24 Using qualitative thematic analysis, two coders (A.M.G., J.O.R.) developed a coding scheme to both inductively and deductively identify major themes that arose in the data and based on research questions. Coders individually analyzed transcripts and then resolved coding discrepancies during meetings to reach consensus on the codes applied to all content.25 Thematically coded data were exported from MAXQDA to Microsoft Excel where a primary coder (A.M.G.) further abstracted and interpreted the data to evaluate theme prevalence through descriptive frequencies.24 The secondary coder (J.O.R.) reviewed all thematic abstractions and interpretations, and both coders met again to discuss discrepancies and reach consensus on all final code abstractions and interpretations. Frequencies are not mutually exclusive (participant responses may have fallen under multiple themes) and reflect the number of distinct participants whose response fell under a specific theme.
Results
During the study and follow-up period, 32 of 278 adolescents with cancer who enrolled in the BASIC3 study and completed exome analysis turned 18 years of age (Fig. 1). Twenty of these YAs did not participate in the AOM consent process because they could not be reached by phone after three contact attempts (n = 10), were lost to clinical follow-up for the BASIC3 study (n = 8), had transferred care (n = 1), or were unable to provide consent due to their cognitive state (n = 1). Twelve YAs were successfully contacted at AOM and all 12 consented to study continuation. Eleven YAs had received their ES results before AOM consent. One YA provided consent at AOM just before their results disclosure. Two AOM-consented YAs requested and completed a session to review their ES results with a study genetic counselor. Of the 12 AOM-consented YAs, 7 completed an interview (58%); we were unable to reach 4 YAs by phone before the end of the study and 1 declined to participate in the interview.
FIG. 1.
Study flow for consent for study continuation in BASIC3 at the age of majority.
Table 1 shows the demographic characteristics of YAs and oncologists who participated in interviews. At the time of the AOM interview, 5 YAs were 18 years of age, 1 was 19, and 1 was 20 (average: 19.0 years; range: 18.4–20.8 years). There was an average time of 21.9 months (range: 2–36 months) between the date that results were returned to the family and the AOM interview. AOM interviews averaged 29 minutes (range: 16–52 minutes). All patients were present for the initial session in which they and their parent(s) received results from their oncologist and a study genetic counselor.
Table 1.
Demographic Characteristics of BASIC3 Oncologists and Young Adults Who Participated in Interviews
| Characteristics |
N, unless otherwise noted |
|
|---|---|---|
| Young adults (n = 7) | Oncologists (n = 12) | |
| Gendera | ||
| Male | 4 | 9 |
| Female | 3 | 3 |
| Race and ethnicitya | ||
| Hispanic or Latino | 5 | 2 |
| Non-Hispanic White | 1 | 6 |
| Non-Hispanic Black/African American | 1 | 1 |
| Non-Hispanic Asian | 0 | 3 |
| Years of practice experience,b mean (range)22 | — | 6.1 (0.5–20) |
| Age in years, mean (range) | ||
| At cancer diagnosis | 16.4 (15.1–17.3) | — |
| At initial study consent and enrollment | 16.5 (15.2–17.4) | — |
| At genomic results disclosure | 17.1 (15.7–18.4) | — |
| At age of majority consent | 18.8 (18.1–20.8) | — |
| At age of majority interview | 19.0 (18.4–20.8) | — |
| Cancer type | ||
| Non-CNS solid tumors | 4 | — |
| CNS tumors | 3 | — |
Oncologist data were self-reported. Young adult data were reported by a parent at study enrollment.
Self-reported.
CNS, central nervous system.
Twelve oncologists were interviewed at the two time points described above for a total of 24 oncologist interviews. Across the two time points, oncologist interviews averaged 25 minutes (range: 17–48 minutes).22 On average, oncologists had 6 years of practice experience (range: 0.5–20 years). Further details on oncologist interviews have been previously reported.22
YAs' perspectives on enrollment, understanding, and AOM consent
Desire for involvement with the decision to enroll
All YAs reported being actively involved (as minors) in the initial decision to enroll in the BASIC3 study (Table 2: Theme 1). Four patients described having a larger decision-making role than their parents, in some cases making the final decision after discussing and considering their parent(s)’ preference (Table 2: Quote 1). Two YAs described sharing the final decision to enroll more equally with their parent(s) (Quote 2). One YA suggested their parent's preference had a larger role in the decision, but that they ultimately agreed on the final decision to enroll (Quote 3).
Table 2.
Illustrative Quotes of Young Adults' Involvement with the Decision to Enroll in the BASIC3 Study as Minors
| Quote ID | Subtheme | Representative quote |
|---|---|---|
| Theme 1: Young adults reported having active roles in decision making to enroll in the study | ||
| Quote 1 | Young adult's preference had larger role than parent's | My mom was kind of like whatever I wanted because it was me…So she put it up, like let me decide. (354) |
| Quote 2 | Young adult and parent shared roles equally | They talked to me as well, as much as my parents. So even though I was underage, I was still referenced to and asked for my opinion and my consent…I was involved with the process. (440) |
| Quote 3 | Parent's preference had larger role than young adult's | Me and my mom. It was really my mom. She was the main one, but we discussed a lot of things… I just know that we came to an agreement to do the research. (252) |
| Theme 2: Young adults gave multiple reasons for enrolling in the study as minors | ||
| Quote 4 | Possibility of helping others | I want to say I felt, not indifferent but, like I've said before it doesn't really directly affect me, and it has the possibility to help other people and maybe even myself, so I guess it wasn't pessimistic, not optimistic either, for myself but for others, and in general it was just something that could be done and there was no reason for it not to be done. (440) |
| Quote 5 | Learn about the cancer | Any test that they were going to do on it, I felt like that would be kind of like okay to help figure out why I got it…Maybe they would get more answers. (354) |
| Quote 6 | Their parent wanted the information | I remember they came in and they were like, “Do you want to?” I guess my mom wanted me to sign it to get the information. I was like, “Yeah go ahead and do it.” (243) |
YAs gave multiple reasons for assenting to enroll in the BASIC3 study as minors (Theme 2). Five YAs cited the possibility of helping others in the future as a major reason for enrolling in the study (Quote 4). YAs also described enrolling to learn more information about their own cancer, such as the cause (Quote 5). Another YA described enrolling mostly because their parent wanted the information the study could give (Quote 6).
Understanding of genomic results varied
What AYAs learned and understood from their genomic results varied (Table 3: Theme 3). Typical of the study as a whole,20 ES result reports of most YAs interviewed included recessive carrier status findings of any rare recessive disorder (n = 6/7) and/or pharmacogenomic findings (n = 6/7). All interviewed YAs received variants of uncertain significance. None of the seven patients interviewed received diagnostic results indicating a cancer predisposition syndrome. Two patients remembered minimal information about their genomic results (Table 3: Quote 1). Three patients remembered that there was not a genetic cause for their cancer (Quote 2). Three patients recalled their recessive carrier status results and the potential implications of those findings for their future family/children (Quote 3). One patient discussed what they learned about how their pharmacogenomic results could be useful in the future (Quote 4).
Table 3.
Illustrative Quotes of Young Adults' Understanding of Genomic Results
| Quote ID | Subtheme | Representative quote |
|---|---|---|
| Theme 3: Young adults' understanding of genomic results varied | ||
| Quote 1 | Remembered minimal information about results | I don't think they changed the treatment…I don't remember anything else about the BASIC3 study…I learned a few things on my future health. I don't remember. (252) |
| Quote 2 | Remembered there was no genetic cause for the cancer | I remember the results of it, that it wasn't passed down from them and that I can't pass it down if I do have children. I think that's all I remember. (312) |
| Quote 3 | Remembered information about carrier status | They said my DNA carried other possible…I had a gene for an effect, a dis-effect or something and that if I had my wife and I wanted to get her tested and make sure she didn't have the same defect that I could and stuff like that and just for my kids and when I had kids eventually…I guess if I had children and one of them had a disease or something, maybe I could use that to help figure out what's going on and maybe a way to treat it. (354) |
| Quote 4 | Remembered information about pharmacogenomic results | They said there was a potential difference in medications because of that one gene, that they would have to adjust certain medications if I ever needed [them]… They said if somebody ever asked me for the genetic results to give it to them because of that, or if I ever went to an emergency room and needed certain medication, to give them the results so they can make that alteration or so they don't have to test me again or something. (440) |
Importance of study consent at the AOM
Most patients thought consenting YAs in research at the AOM was important (Table 4: Theme 4). Three patients in this study thought it was useful in case YAs changed their mind as they aged and/or now wanted the chance to make their own decision(s) about study participation (Table 4: Quote 1). YAs also thought AOM consent was a way to keep the AYA up-to-date on study progress and ongoing study activities (Quote 2). One YA did not think AOM consent was necessary but thought patients should be reminded of their participation (Quote 3).
Table 4.
Illustrative Quotes of Young Adults' Decision Making for Study Consent at the Age of Majority
| Quote ID | Subtheme | Representative quote |
|---|---|---|
| Theme 4: Young adults thought age of majority consent was important | ||
| Quote 1 | Important in case young adult changed their mind | I feel you should [have to ask participants if they want to continue in the study when they turn 18] because the 18-year-olds might have a change of mind and maybe they were, I don't know, they don't like being controlled under their parents or whatever and they just want to make their own choice but then feel like you shouldn't because if the parents consented them, they need to stay in the study. (312) |
| Quote 2 | Helps keep young adult updated on study | …It would be nice for them to be aware of what they're involved in, so I guess the reconsent would be applicable just for awareness reasons, just for awareness, so they don't feel excluded or anything. (440) |
| Quote 3 | Unnecessary except to remind young adult of participation | No [researchers shouldn't have to ask participants if they want to continue in the study when they turn 18]. I'm always going to say yes to it… Probably not asked, but just to be aware of because I really wouldn't mind…I want to know what would go on and what would happen in the future, what I'm supposed to like, go through at that point. (419) |
| Theme 5: Young adults had similar reasons to age of majority consent as they did for enrolling in the study | ||
| Quote 4 | Possibility of helping others | I didn't really see a reason to withdraw. It didn't really directly affect me, and potential benefits for others or myself, and so there was no reason to withdraw from it. I was already in it, just continue with it. (440) |
| Quote 5 | Advance science and cancer research | Any way to help, so if someone else has it, maybe they can have more information to find maybe a cure or just closer to the cure. (354) |
YAs gave similar reasons for their initial assent to the BASIC3 study and for consenting at AOM (Theme 5). Six YAs cited helping others as their main reason for consenting at the AOM (Quote 4). Three YAs hoped that their decision to consent at AOM would advance science and cancer research, such as helping to find a cure for cancer (Quote 5). One YA did not remember the process of AOM consent.
Oncologists' perspectives of AYA engagement and understanding
When asked about their experiences with their BASIC3 adolescent patients in general (not specific to patients interviewed for this substudy), oncologists varied in their opinions of their adolescent patients' engagement with and understanding of their ES results. Most (n = 10) oncologists perceived that adolescents were not very active in the return of results discussion (Table 5: Theme 6), reporting that adolescents mostly listened and showed some interest, but did not usually ask questions or interact with the oncologist or genetic counselor (Table 4: Quote 1), or show much reaction to their results (Quote 2). Oncologists were also divided in their opinions about adolescents' understanding of their ES results (Theme 7), with five oncologists saying they did not think that their adolescent patients understood their results well (Quote 3). Patient age was a factor in oncologists' perceptions of adolescent engagement and understanding, with some noting that older adolescents were more involved in the conversation about their results (Quote 4). Oncologists reported that older adolescents were active during the discussion, understood their results, and appreciated getting cutting-edge information (Theme 8; Quote 5).
Table 5.
Illustrative Quotes of Oncologists' Perspectives of Adolescents' Engagement and Understanding During Return of Results Sessions
| Quote ID | Representative quote |
|---|---|
| Theme 6: Adolescents were not very active during the results session | |
| Quote 1 | They have listened to the information, but honestly, I can't remember them asking any questions or making any comments about the information to really say what they're getting out of it. (106, follow-up) |
| Quote 2 | There were one or two that were adolescents. They were there and they were quiet. They did not show any reaction. (102, follow-up) |
| Theme 7: Adolescents' understanding of results was difficult to gauge | |
| Quote 3 | I think that although they participated in the conversation, I'm not sure they really understood what was going on. I didn't have any patients who were in any way upset or kind of confused or anything by the results. I think they just mostly didn't really pay attention. (103, follow-up) |
| Quote 4 | I'd say most of the patients probably zoned out of the discussions. With the older patients some of them engaged similarly to their parents but I can't say I remember any of the patients asking a question. (105, follow-up) |
| Theme 8: Adolescents appreciated receiving results | |
| Quote 5 | We've had teenagers and they do ask questions. They do understand…They feel like they're a part of this and once again, it gives them an idea that we are doing something more than just giving medicines and taking care of them. The high school students and others, they really appreciate the fact that they are the cutting edge of this. (101, follow-up). |
Discussion
The findings from this exploratory interview substudy expand our understanding of the decisional preferences for genomic research of AYAs with cancer and their engagement with genomic results. Our interviews with oncologists and patients revealed a range in AYAs' levels of engagement and perceived understanding. We found that, even though study oncologists did not perceive adolescents to be actively engaged in return of results sessions and were uncertain if patients understood their ES results, most YAs interviewed remembered key points about their results. The YAs in our study recalled their carrier and pharmacogenomic results and were able to grasp the limited relevance of those findings to their current health and care. In line with other studies in a pediatric cancer context,26,27 YAs in our study reported being actively involved as adolescents in the research assent process with their parents but were also perceived as being less engaged than they actually were in research assent decisions.28,29 Together, this evidence warns against drawing parallels between adolescents' engagement and their ability to comprehend genomic information.27
These findings emphasize the need for researchers and clinicians to tailor approaches and communication with their adolescent patients, and assess adolescents' understanding of their genomic information rather than relying on observed behaviors. Future research should continue to gather information directly from AYAs with cancer about their understanding of their genomic results, as well as the potential impact of the information on their quality of life. Oncologists can also hone expertise specific to engaging adolescents with differing levels of cognitive development.30,31 Additionally, it may be that their parents' preferences influenced adolescents' decisions to enroll in the BASIC3 study, even for those adolescents who reported that they made the final decision. Future studies should further evaluate the parent/adolescent decision-making dynamic related to genomic research in a pediatric cancer context.
We found that YAs with cancer viewed consent of genomic research participants at the AOM as good practice and a way to respect YAs' autonomy. These views align with most literature that encourages consenting patients at the AOM to continue participating in genomic research.1,32–34 From a logistical standpoint, AOM consent can be difficult. For example, in BASIC3 we were only able to reach a minority of patients eligible for AOM consent due to logistical barriers, which may be further augmented when a study or research funding have ended. As such, questions about the need for AOM consent given concerns about its feasibility have been the subject of ethical discussion.13–15 However, YAs' own perspectives on AOM consent in this study have highlighted the important role they perceive AOM consent plays in respecting their autonomy and ability to make their own decisions. YAs' preferences should thus be valued highly in the larger ethical debate around the utility of AOM consent.
In terms of reasons for their decision to consent at the AOM, YAs in this study cited the possibility of helping others and advancing science as major reasons, similar to the reasons they gave for their initial assent. Similarly, other studies have found altruism to be a motivator for YAs with cancer to enroll in medical research generally35,36 and also to receive genomic results from research participation.37 While our results have begun to provide insight into YAs' own perspectives and preferences related to this debate, a more thorough understanding of the YAs' views toward AOM consent in genomics is needed.
Our study had several limitations, which mean these results may not be generalizable to other populations or other settings. First, we had a small sample size of seven YAs in this substudy despite extensive efforts to recruit eligible participants. It is possible that the interviewed participants were not representative of our entire study sample of YAs. It is also possible that there were issues and perspectives relevant to this population of YAs with cancer participating in genomic research that we were unable to identify in these seven interviews. However, the narrow aim of our study to explore the currently understudied perspectives of YA decision making around genomics along with our highly specific population and sampling of YAs with cancer in genomic research who have consented at AOM, allow these findings to provide insight into the topic of YAs' perspectives in decision making around genomics.38 These data can in turn generate hypotheses to guide future qualitative and quantitative research that further explores YAs' perspectives in decision making around genomics.
We were only able to approach patients who could be reached and had provided AOM consent. These practical challenges in BASIC3 suggest opportunities for future research around improving AYA patient engagement in longitudinal studies. Second, as we are missing the perspectives of those who did not have an opportunity to decide whether to consent at AOM, these results may represent perspectives from patients with distinctive values or who had a more positive study experience that influenced their decision to stay enrolled. This may also suggest there is a significant subset of our study population that was not substantially engaged in the research and its results. Given the small number of participants, we were unable to assess any differences in preferences based on patient age at initial entry, although this is an area for future research as previous studies have shown differences in AYAs' preferences5 and level of decision-making engagement based on their age.4,5,17 Third, no YAs with cancer interviewed for this study had diagnostic results indicating a cancer predisposition syndrome. AYAs' views may differ after receiving a genomic diagnosis.
We also did not assess what types of genomic information AYAs wanted to receive. However, AYAs in one study in a noncancer context chose to learn only genetic results that were actionable,6 pointing to an area of future study in the context of YAs with cancer. Fourth, we could not match AYAs' and oncologists' responses directly as we asked oncologists more generally about any patients who were old enough to participate in the result discussions and were thus unable to directly compare their perspectives or discern differences in responses based on the age of patients about which they responded. Finally, all interviews were conducted among patients whose preferred language was English, and future research should explore decision-making preferences of AYAs who prefer to speak languages other than English. Despite these limitations, this study helps fill a gap in our understanding of the preferences and experiences of YAs with cancer with genomic research.
Conclusion
We found that YAs with cancer were willing to engage with genomic information, including nondiagnostic findings, in the context of a research study. This exploratory study provides insight into the perceptions and decisional preferences of YAs with cancer for genomic research and testing. YAs with cancer viewed participation through assent and AOM consent in genomic research as important and cited the possibility of helping others as the main reason for study enrollment and continuation. Caution is needed to avoid assuming that YAs are not understanding or engaging with the information even if they do not participate actively in result sessions. As YAs engage with and understand their genomic information at different levels, more research is necessary to understand the diverse communication needs and decision-making preferences of AYAs with cancer.
Supplementary Material
Acknowledgments
The authors would like to thank the oncologists, parents, and patients for their time and participation in the BASIC3 study. They would like to thank Stephanie Gutierrez for her project support and work on the BASIC3 study.
Authors' Contributions
A.M.G.: conceptualization, methodology, formal analysis, investigation, data curation, writing—original draft preparation, writing—review and editing, visualization, and project administration. J.O.R.: conceptualization, methodology, formal analysis, writing—original draft preparation, writing—review and editing, and supervision. R.R-M.: data curation, writing—original draft preparation, writing—review and editing, visualization, and project administration. I.C.: writing—original draft preparation, and writing—review and editing. M.A.M.: writing—original draft preparation, writing—review and editing. S.S.: writing—original draft preparation, and writing—review and editing. L.R.D.: writing—original draft preparation, and writing—review and editing. R.L.H.: data curation, and writing—review and editing. W.A-R.: writing—review and editing. D.W.P.: funding acquisition, supervision, and writing—review and editing. S.E.P.: funding acquisition, supervision, and writing—review and editing. A.L.M.: funding acquisition, supervision, and writing—review and editing. J.M.: conceptualization, methodology, investigation, supervision, writing—original draft preparation, and writing—review and editing. All authors have read and agreed to the published version of the article.
Ethics Approval
The study was approved by the Institutional Review Board of Baylor College of Medicine (protocol code H-30755, approved on May 16, 2012). The Baylor College of Medicine Institutional Review Board (IRB) is the IRB for Texas Children's Hospital.
Data Availability Statement
Data available from the authors upon request.
Author Disclosure Statement
S.E.P. is a member of the scientific advisory panel of Baylor Genetics Laboratories. The other authors declare no conflicts of interest.
Funding Information
The BASIC3 study was a Clinical Sequencing Exploratory Research (CSER) program project supported by the National Human Genome Research Institute and the National Cancer Institute (U01HG006485).
Supplementary Material
References
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Data Availability Statement
Data available from the authors upon request.