Abstract
Genomic testing of adolescents is increasing yet engaging them in decision-making is not routine. We assessed decisional conflict in adolescents and a parent making independent decisions about actual genomic testing results and factors that influenced their choices. We enrolled 163 dyads consisting of an adolescent (13–17 years) not selected based on a specific clinical indication and one parent. After independently choosing categories of conditions to learn for the adolescent, participants completed the validated Decisional Conflict Scale and a survey assessing factors influencing their respective choices. Adolescents had higher decisional conflict scores than parents (15.6 [IQR:4.7–25.6] vs 9.4 [IQR:1.6–21.9]; P = .0007). Adolescents with clinically significant decisional conflict were less likely to choose to learn all results than adolescents with lower decisional conflict (19.6% vs 80.4%; P < .0001) and less likely to report their choices were influenced by actionability of results (33.3% vs 18.9%; P = .044) and feeling confident they can deal with the results (71.2% vs 91.9%; P = .0005). Our findings suggest higher decisional conflict in adolescents may influence the type and amount of genomic results they wish to learn. Additional research assessing decisional conflict and factors influencing testing choices among adolescents in clinical settings are required.
Keywords: adolescent, conflict (psychology), decision-making, genomics
1 |. INTRODUCTION
Whole exome and whole genome sequencing (WES/WGS) are increasingly utilized in clinical and research settings. These sequencing technologies can generate vast amounts of genetic information unrelated to the primary indication for WES/WGS.1 The American College of Medical Genetics and Genomics’ (ACMG’s) initial recommendation for reporting secondary findings2 anytime WES/WGS was performed for clinical purposes was met with much debate from the genetics community.3 In particular, the lack of choice about learning results, as well as the recommended return of some adult-onset conditions not actionable in childhood to parents of children, challenged personal autonomy and a child’s future autonomy.4,5 Subsequently, updated recommendations introduced the choice to “opt in or out” of learning all secondary findings,6 including both childhood and adult-onset conditions7 but did not allow the choice to learn “some” secondary findings.
The ACMG’s recommendations for return of secondary results for clinical WES/WGS do not extend to research settings.8 However, potential study participants should be informed about whether or not a study may offer to return genomic results identified during the course of the study9,10 and the type of choices participants are permitted to make about learning results. Genomic studies focused on discovery may not offer to return any results, or may offer to only return results relevant to a participant’s phenotype. Some studies may also offer to return medically actionable secondary results as recommended by the ACMG while others may offer to return genomic screening results specific to study aims.9,11–13 Offering large amounts of genomic information to participants can make decision-making about which results to learn increasingly complex. When faced with such a complex decision, individuals may experience decisional conflict, which is a “personal uncertainty about which course of action to take when choice among competing options involves risk, regret or challenge to personal life values.”14
Making decisions about learning genomic information can be particularly challenging for asymptomatic minors - especially if they are offered the option to learn about carrier status or adult onset conditions that are not actionable in childhood. Concerns about learning carrier results or adult-onset conditions include psychosocial harms such as undue loss of autonomy and privacy; stress, anxiety and stigmatization.15,16 However, benefits also include being aware of treatment and screening options, not being blindsided by a diagnosis at a later age, and the ability to make informed reproductive decisions and prompt life changes.17
Literature focusing on the return of secondary genomic results has mainly focused on understanding the preferences of adults and parents with children who are at risk of or previously diagnosed with a genetic condition.16,18,19 Adolescents’ preferences about secondary findings and factors that influence their decisions to learn genomic information have largely been unexplored. In addition, most studies have involved hypothetical return of secondary findings and may not accurately depict preferences of the participants when actual genomic results are returned.20 From the limited studies that have returned actual results from genomic studies, approximately 70% to 80% of adults wanted to learn results for their children, with the minority wanting to learn only a subset or none of the conditions.21,22 Conditions included in the studies that returned actual results were, treatable, nontreatable and adult onset conditions, early onset childhood disease as well as carrier status for recessive disorders.
Research indicates that adolescents and adults have similar decision-making capacities when providers have clearly detailed the costs and benefits about each possible decision.23,24 Thus, adolescents’ right to be engaged in medical decision-making, including clinical genomic testing is increasingly recognized. In addition to clinical settings, adolescents may be involved in decisions about learning genomic results through direct-to-consumer genetic testing25 companies and large research studies such as the “All of Us” Research Program, which is currently developing protocols to allow the enrollment of adolescents.26 As avid users of the internet, adolescents may also encounter advertisements, news, and postings about others’ experiences with direct-to-consumer genetic testing.25,27 To date, no study has examined whether adolescents making complex decisions about genomic testing experience decisional conflict. The primary aim of our study was to determine the level of decisional conflict among adolescents, who were not selected based on a clinical indication, and their parent when making decisions about learning actual genomic testing results, and to examine whether decisional conflict differed between adolescents and their parent. Our secondary aim was to explore what factors adolescents and parents reported as influencing their choices and if these factors differed by whether or not participants had clinically significant levels of decisional conflict.
2 |. MATERIALS AND METHODS
This study was a cross-sectional sub study of a site specific electronic Medical Records and Genomics (eMERGE) Network Phase III study and was approved by the Cincinnati Children’s Hospital Medical Center Institutional Review Board. Participant recruitment and study design for the eMERGE III study were previously described.13,28 Briefly, participants were recruited from the community and existing CCHMC clinics. Adolescents were eligible to participate if they were between the ages of 13 and 17 and were willing to sign up for MyChart, an electronic health record portal where their genetic testing results from the study would become available. Adolescents were not selected based on clinical indication. One parent or legal guardian of the adolescent who was willing to have their child’s study results included in their medical records and sent to the child’s primary care provider were eligible to participate in the study.
Adolescents, together with one parent, were enrolled in the study after watching a video about genomics, and the potential benefits and limitations of receiving positive and negative genomic test results, and after providing written assent and consent. Adolescents and parents were separated and independently completed a decision tool to indicate the categories of conditions they wanted to learn. Categories included learning about conditions that were preventable, not preventable, or both; treatable, not treatable, or both; adult-onset; and carrier results for autosomal recessive conditions.29 Participants could also include or exclude individual conditions in each category. The conditions were informed by a subset of genes and single nucleotide variants on a sequencing gene panel specifically designed for the eMERGE network.30 The site-selected subset of genes offered for return to participants included the original set of genes recommended by the ACMG. After making their choices, participants completed the validated Decisional Conflict Scale (DCS)31 as well as an investigator-developed survey to assess what factors influenced participants’ choices about conditions to learn. Independent decision-making lessened the likelihood that adolescents and parents influenced one another’s initial choices. After making their independent decisions, parent and adolescent reconvened to make a joint decision about what categories of conditions to learn about the adolescent.
2.1 |. Demographics
Demographic variables gathered via questionnaire included, age, sex, race, education level, household income, marital status and health status. Participants were asked to report if they had prior genetic testing or a family history of a genetic condition. A respondent was considered to have “prior genetics exposure” if they reported any previous genetic testing or if they or a family member had been diagnosed with a genetic condition.28
2.2 |. Decisional conflict
The DCS consists of 16 questions and is divided into five subscales: informed subscale, values clarity subscale, support subscale, uncertainty subscale, and an effective decision subscale. The informed subscale measures understanding of benefits and risks of the available options. The values clarity subscale measures a participant’s feelings about the benefits and risks of the choice made. The support subscale measures feelings of support during decision-making. The uncertainty subscale measures a participant’s level of confidence about the decision made. The effective decision subscale measures the satisfaction with the decision made.31 The total DCS score equally weights all five subscales.
Responses to each question are reported on a 5-point Likert scale (0 = strongly agree to 4 = strongly disagree). The total DCS scores are calculated by summing item scores and then normalizing the score to range from 0 to 100, where 0 implies no decisional conflict and 100 implies extremely high decisional conflict. Scores <25, 25 to 37.5, >37.5 indicate low, moderate and high decisional conflict, respectively. Scores 25 and higher reflect clinically significant decision conflict.32 Total DCS scores and subscale scores were calculated for adolescents and parents.
2.3 |. Influencing factors
Participants were provided 14 statements and asked whether each had influenced their choices about which conditions to learn. The statements addressed test features (test is unique; test is free), attitudes toward research, anticipated reactions toward receiving different types of results, concerns about privacy and confidentiality, and actionability of results. Participants were asked to choose between “It influenced my choices” and “It did not influence my choices.” The survey items were informed by the literature and perspectives raised by adolescents and parents during focus groups conducted for decision tool development.29 The investigator-developed survey was pretested for comprehension and completion time with a convenience sample of three adolescents and one parent.
2.4 |. Statistical analysis
For the quantitative DCS scores, data are described using medians, and interquartile ranges since scores were not normally distributed. To compare the DCS total and subscores between adolescents and parents, Wilcoxon sign ranked test was used. To evaluate the degree of decisional conflict present, the percentage of adolescents and parents with low, moderate and high DCS scores as well as those with clinically significant scores were calculated. Accounting for the paired nature of the dyads, McNemar’s test was used to evaluate differences in proportions, including whether the proportion of participants with low, moderate or high DCS scores, as well as influencers, differed between adolescents and parents. Among adolescents we explored whether demographics, choices about which conditions to learn, and influencers differed between adolescents with and without clinically significant DCS scores, using contingency tables and chi-square or Wilcoxon rank sum (for age and income). For statistical analyses, participants’ categorical choices were collapsed into the aggregate choices to learn “All” or “Not All” results. Statistical analyses were conducted using the software, JMP (SAS Institute Carey NC). Alpha ≤0.05 was considered significant. With the exception of income, which was not reported by 11% of participants, missing data were excluded from descriptive results and comparative testing.
3 |. RESULTS
3.1 |. Demographics
Of 184 dyads who scheduled study visits, 163 adolescent and parent dyads enrolled and completed the tools during a study visit. The remaining dyads canceled (n = 16) or did not show-up (n = 5) for their scheduled study visit. Demographic data have been previously reported.28 Briefly, adolescent participants were predominantly female (62.0%) and white (79.1%). Mean adolescent age was 15.4 years while mean parent age was 45.0 years. Parent participants were also predominantly female (90.2%) and white (79.1%). Over half of parents had a household income over $60 000. Only 27.6% of adolescents and 31.9% of parents had prior genetics exposure (Table 1).28
TABLE 1.
Participant characteristicsa
| Adolescent (n = 163) no. (%) |
Parent (n = 163) no. (%) |
|
|---|---|---|
| Age, mean (±SD), y | 15.4 ± 1.2 | 45.0 ± 7.3 |
| Sex | ||
| Female | 101 (62.0%) | 147 (90.2%) |
| Male | 61 (37.4%) | 16 (9.8%) |
| Other | 1 (0.6%) | |
| Race | ||
| White | 129 (79.1%) | 129 (79.1%) |
| Black or African American | 25 (15.3%) | 27 (16.6%) |
| Multiple races/other | 15 (9.2%) | 7 (4.3%) |
| Hispanic or Latino ethnicity | ||
| Hispanic | 8 (4.9%) | 3 (1.8%) |
| Not Hispanic | 147 (90.2%) | 158 (96.9%) |
| Unknown | 8 (4.9%) | 2 (1.2%) |
| Education level | ||
| Some HS | 4 (2.5%) | |
| HS/GED | 14 (8.8%) | |
| Post HS | 20 (12.6%) | |
| Associates | 26 (16.4%) | |
| Bachelors | 49 (30.8%) | |
| Masters | 40 (25.2%) | |
| Doctoral/professional | 6 (3.8%) | |
| Adolescent age (y) | ||
| 13 | 23 (14.1%) | |
| 14 | 39 (23.9%) | |
| 15 | 44 (27.0%) | |
| 16 | 41 (25.2%) | |
| 17 | 16 (9.8%) | |
| Household income | ||
| Less than $15 000 | 7 (4.3%) | |
| $15 000–$29 99916(9 | 16 (9.9%) | |
| $30 000–$44 999 | 17 (10.5%) | |
| $45 000–$59 999 | 13 (8.0%) | |
| $60 000–$89 99929 | 29 (17.9%) | |
| $90 000–$149 00030 | 30 (18.5%) | |
| $150 000 or more | 32 (19.8%) | |
| No answer | 18 (11.1%) | |
| Health insurance (parent) | ||
| Private | 123 (75.9%) | |
| Not private | 39 (24.1%) | |
| Marital status (parent) | ||
| Married | 110 (67.9%) | |
| Never married | 14 (8.6%) | |
| Divorced | 27 (16.7%) | |
| Separated | 6 (3.7%) | |
| Widowed | 2 (1.2%) | |
| Living with partner | 3 (1.9%) | |
| Health | ||
| Poor | 3 (1.9%) | 3 (1.9) |
| Fair | 16 (10.1%) | 17 (10.5%) |
| Good | 47 (29.6%) | 66 (40.7%) |
| Very good | 49 (30.8%) | 52 (32.1%) |
| Excellent | 44 (27.7%) | 24 (14.8%) |
| Ever had a genetic test? | ||
| Yes | 16 (9.8%) | 22 (13.5%) |
| No | 132 (80.1%) | 136 (83.4%) |
| Not sure | 15 (9.2%) | 5 (3.1%) |
| Ever been told by a doctor you have a genetic condition? | ||
| Yes | 22 (13.6%) | 16 (9.9%) |
| No | 126 (77.8%) | 140 (87.0%) |
| Not sure | 14 (8.6%) | 5 (3.1%) |
| Anyone in immediate family been told they have a genetic condition? | ||
| Yes | 30 (18.6%) | 37 (22.8%) |
| No | 102 (63.4%) | 110 (67.9%) |
| Not sure | 29 (18.0%) | 15 (9.3%) |
| Prior genetics exposure | ||
| Yes | 45 (27.6%) | 52 (31.9%) |
| No | 118 (72.4%) | 111 (68.1%) |
As previously published.28
3.2 |. Decisional conflict scores in adolescents and parents
Adolescents had a significantly higher median total DCS score of 15.6 (IQR: 4.7–25.6) than parents who had a median DCS score of 9.4 (IQR: 1.6–21.9) (P value = .0007). Adolescents also had a significantly higher total median score than parents on all five DCS subscales. In general, the median subscale scores for adolescents were twice that of parents’. The values clarity subscale had the highest median DCS for both adolescents and parents, and is the only subscale whose median reached the clinical threshold of 25 (Table 2).
TABLE 2.
Median (interquartile range) decisional conflict scores of adolescents and parents
| Adolescents (n = 163) |
Parents (n = 163) |
P-value | |
|---|---|---|---|
| Total decisional conflict score | 15.6 (4.7–25.6) | 9.4 (1.6–21.9) | .0007 |
| Uncertainty subscale | 16.7 (0–33.3) | 8.3 (0–25) | .035 |
| Informed subscale | 16.7 (0–25) | 8.3 (0–25) | .0032 |
| Values clarity subscale | 25 (0–33.3) | 16.7 (0–25) | <.0001 |
| Effective decision subscale | 12.5 (0–25) | 6.3 (0–25) | .019 |
| Support subscale | 8.3 (0–25) | 0 (0–16.7) | .0095 |
Nearly 32% of adolescents but only 20% of parents reported moderate or high DCS scores. Furthermore, the proportion of adolescents and parents with low, moderate and high DCS scores differed significantly (P value = .017) (Table 3).
TABLE 3.
Percentage of participants with low, moderate and high decisional conflict scores
| Adolescents (n = 163) n (%) |
Parents (n = 163) n(%) |
P-value | |
|---|---|---|---|
| Low DCS score (<25) | 111 (68.1%) | 130 (80.0%) | |
| Moderate DCS score (25–37.5) | 34 (20.9%) | 26 (16.0%) | .017 |
| High DCS score (>37.5) | 18 (11.0%) | 7 (4.3%) |
3.3 |. Clinically significant decisional conflict in adolescents by demographics and choices
Adolescents with clinically significant decisional conflict were less likely to want to learn all results than adolescents who had a total DCS scores less than 25 (20.0% and 80.0%, respectively; P value = <.0001). The percent of adolescents with clinically significant DCS scores (Total DCS score ≥25) did not differ by adolescents’ demographics and their prior genetics exposure (Table 4).
TABLE 4.
Proportion of adolescents with clinically significant decisional conflict by demographics and choices (n = 163)
| Demographics | DCS score <25 n = 110 (68%) | DCS score ≥25 n = 52 (32%) | P-value |
|---|---|---|---|
| Agea | |||
| 13 | 16 (69.6%) | 7 (30.4%) | |
| 14 | 23 (59.0%) | 16 (41.0%) | |
| 15 | 28 (63.6%) | 16 (36.4%) | .24 |
| 16 | 34 (82.9%) | 7 (17.1%) | |
| 17 | 10 (62.5%) | 6 (37.5%) | |
| Sex | |||
| Male | 42 (68.9%) | 19 (31.2%) | |
| Female | 68 (67.3%) | 33 (32.7%) | .84 |
| Race | |||
| White | 88 (71.5%) | 35 (28.5%) | |
| Black | 12 (48.0%) | 13 (52.0%) | |
| Other | 11 (73.3%) | 4 (26.7%) | .06 |
| Parental incomea | |||
| Less than $15 000 | 6 (85.7%) | 1 (14.3%) | |
| $15 000-$29 999 | 12 (75.0%) | 4 (25.0%) | |
| $30 000-$44 999 | 12 (70.6%) | 5 (29.4%) | .45 |
| $45 000-$59 999 | 7 (53.9%) | 6 (46.2%) | |
| $60 000-$89 999 | 20 (69.0%) | 9 (31.0%) | |
| $90 000-$149 000 | 20 (66.7%) | 10 (33.3%) | |
| $150 000 and above | 21 (65.6%) | 11 (34.4%) | |
| Prefer not to answer | 12 (66.7%) | 6 (33.3%) | |
| Prior genetics exposure | |||
| Yes | 32 (71.1%) | 13 (28.9%) | |
| No | 79 (67.0%) | 39 (33.1%) | .61 |
| Choices | |||
| All | 84 (80.0%) | 21 (20.0%) | <.0001 |
| Not all | 27 (46.6%) | 31 (53.5%) | |
Compared using Wilcoxon Rank sum.
3.4 |. Factors influencing adolescents’ and parents’ choices
Parents were more likely than adolescents to indicate issues of privacy and confidentiality influenced their choices. “My/my child’s genetic test results might not be kept private” was reported by 34.2% of parents as an influencing factor compared to 18.4% of adolescents (P value = .0005). “I don’t want my/my child’s health insurance company to know my/my child’s genetic test results” was reported by 32.9% of parents as an influencing factor compared to 12.5% of adolescents (P value <.0001). Finally, 29.4% of parents reported “I don’t want the genetic test results in my/my child’s medical record” as an influencing factor compared to 11.1% of adolescents (P value <.0001).
Both parents and adolescents reported the same top three factors as influencing their choices. The most frequently reported influence on choices for both parents and adolescents was the ability to gain more knowledge. Approximately 97% and 91% of parents and adolescents, respectively, chose “I want to learn as much as I can about my/child’s health” as an influencing factor. The second most frequent influencing factor was the ability to improve health. Over 95% of parents and adolescents chose “I can use the genetic test results to improve my/my child’s health” as a factor influencing their choices. The altruistic nature of the research study was the third most frequently chosen influencer, where 95% of parents and 91% of adolescents chose, “Taking part in research helps others.” (Table 5).
TABLE 5.
Factors influencing adolescents’ and parents’ choicesa
| N dyads | Adolescents (n%) | Parents (n%) | P-value | |
|---|---|---|---|---|
| 1 can use the genetic test results to improve my/my child’s health | 162 | 154 (95.1%) | 155 (95.7%) | .80 |
| Taking part in research helps others | 163 | 149 (91.4%) | 154 (94.5%) | .30 |
| 1 want to learn as much as I can about my/child’s health | 162 | 147 (90.7%) | 156 (96.6%) | .039 |
| 1 am confident that I can deal with the genetic test results | 163 | 139 (85.3%) | 142 (87.1%) | .62 |
| This test is a unique opportunity | 161 | 133 (82.6%) | 141 (87.6%) | .17 |
| This test is free | 157 | 92 (58.6%) | 108 (68.8%) | .042 |
| 1 will feel relief if I get a negative test result | 159 | 91 (57.2%) | 102 (64.2%) | .20 |
| 1 might worry if I/my child get(s) a positive genetic test result | 161 | 68 (42.2%) | 68 (42.2%) | 1.0 |
| 1 only want results if there is something I can do to prevent the onset of a disease | 153 | 43 (28.1%) | 44 (28.8%) | .87 |
| 1 do not want to know health information if there is nothing 1 can do about it | 156 | 36 (23.1%) | 46 (29.5%) | .096 |
| My genetic test results might not be kept private | 158 | 29 (18.4%) | 54 (34.2%) | .0005 |
| 1 prefer not to know certain things about my health | 150 | 27 (18.0%) | 34 (22.7%) | 0.29 |
| A positive genetic test result might cause others to treat me differently. | 147 | 20 (13.6%) | 30 (20.4%) | .11 |
| 1 do not want my/my child’s health insurance company to know my genetic test results | 152 | 19 (12.5%) | 50 (32.9%) | <.0001 |
| 1 do not want the genetic test results in my/my child’s medical record | 153 | 17 (11.1%) | 45 (29.4%) | <.0001 |
Data restricted to information from both parent and adolescent. P-value used McNemar’s test to account for relatedness within dyads.
3.5 |. Clinically significant decisional conflict and influencers in adolescents
Adolescents with clinically significant decisional conflict were more likely to indicate actionability of the results as an influencer than adolescents with a decisional conflict score less than 25. Specifically, adolescents with clinically significant decisional conflict were more likely to choose “I don’t want to know health information if there is nothing I can do about it” as an influencer than adolescents with no decisional conflict (33.3% vs 18.9%, respectively; P = .044). Adolescents with clinically significant decisional conflict were also more likely to indicate, “I only want results if there is something I can do to prevent the onset of a disease” as an influencer than adolescents without clinically significant decisional conflict (42.0% vs 21.6%, respectively; P = .0077).
Ability to successfully cope with the results was also noted as an influencing factor on adolescents’ choices. Adolescents with clinically significant decisional conflict were less likely to indicate, “I am confident that I can deal with the genetic test results” as an influencer than adolescents without clinically significant decisional conflict (71.2% vs 91.9%, respectively; P = .0005). (Table 6).
TABLE 6.
Clinically significant decisional conflict and influencers in adolescents
| DC score < 25 n = 110 (68%) |
DC score ≥25 n = 52 (38%) |
P-value | |
|---|---|---|---|
| 1 can use the genetic test results to improve my health. | 106 (96.4%) | 48 (92.3%) | .27 |
| Taking part in research helps others. | 100 (90.1%) | 49 (94.2%) | .38 |
| 1 want to learn as much as I can about my health. | 102 (91.9%) | 46 (88.5%) | .48 |
| 1 am confident that I can deal with the genetic test results. | 102 (91.9%) | 37 (71.2%) | .0005 |
| This test is a unique opportunity. | 92 (82.9%) | 42 (82.4%) | .93 |
| This test is free. | 69 (62.2%) | 26 (50.0%) | .14 |
| 1 will feel relief if I get a negative test result. | 60 (54.1%) | 34 (66.7%) | .13 |
| 1 might worry if I get a positive genetic test result. | 44 (39.6%) | 25 (48.1%) | .31 |
| 1 only want results if there is something I can do to prevent the onset of a disease. | 24 (21.6%) | 21 (42.0%) | .0077 |
| 1 do not want to know health information if there is nothing I can do about it. | 21 (18.9%) | 17 (33.3%) | .044 |
| 1 prefer not to know certain things about my health. | 18 (16.4%) | 14 (26.9%) | .12 |
| My genetic test results might not be kept private. | 25 (22.5%) | 7 (13.5%) | .17 |
| A positive genetic test result might cause others to treat me differently. | 15 (13.5%) | 9 (17.3%) | .52 |
| 1 do not want my health insurance company to know my genetic test results. | 13 (11.7%) | 10 (19.2%) | .2 |
| 1 do not want the genetic test results in my medical record. | 11 (9.9%) | 8 (15.4%) | .31 |
4 |. DISCUSSION
To our knowledge, this study was the first to investigate decisional conflict among adolescents and parents who chose genomic testing and were not selected based on clinical indication. Adolescents who participated in our study demonstrated higher decisional conflict than parents when making independent decisions about learning genomic results. Among the adolescents, nearly a third reported clinically significant decisional conflict and those who had clinically significant decisional conflict chose to learn about fewer conditions than those with lower decisional conflict. We explored the possible reasons for adolescent choices and found that adolescents with high decisional conflict scores were more likely to indicate they did not want results unless they were actionable and less likely to indicate they were confident they could deal with the results than adolescents with low decisional conflict scores.
Our findings are novel as adolescents who receive clinical genetic testing are not the primary decision makers and receivers of the results, rather their parents make decisions and receive results.33 In the United States, individuals have full authority to make health decisions at the age of 18. Adolescents between the ages 13 and 17 are on a developmental trajectory toward full autonomy and can gradually start taking ownership of their health by becoming primary partners in medical decision-making.34 In fact, engaging adolescents in medical decision-making has been shown to be associated with lower decisional conflict.35 Working toward reducing decisional conflict is important, as clinically significant decisional conflict if not resolved can translate into decisional regret, decisional delay and higher anxiety.32,36
In our study, both parents and adolescents scored the highest decisional conflict for the values clarity subscale. Values clarity refers to the participant’s understanding of the benefits, risks and side effects of the possible choices to be made.31 Higher values clarity scores suggest that some participants had unresolved uncertainty about the benefits and risks of learning genomic results when making their independent choices. While adolescents had higher decisional conflict than parents on all subscales, adolescents only scored clinically significant decisional conflict (score of 25 or higher) on the values clarity subscale score. It is possible that incorporating greater detail about the risks and benefits of making decisions to learn specific genomic results could help lower decisional conflict scores on the values clarity subscale. It has also been suggested that in adolescents with a previous medical diagnosis, prior experiences making medical decisions could lead to increased capacity to make informed medical decisions.37 Since our study enrolled adolescents who were not selected based on a clinical indication, lack of experience making health decisions for themselves and weighing the benefits and risks of health decisions may explain why adolescents but not parents had a clinically significant score on the values clarity subscale.
It is possible that decisional conflict was reduced after our facilitated joint session when adolescents and parents explained their reasons for their independent choices, including perceived risks and benefits; considered one another’s reasons; obtained clarification if needed; and made final joint decisions.13 Unfortunately, repeated measure of decisional conflict was not a study procedure. Since shared decision-making may be associated with less decisional conflict surrounding medical decisions,38,39 adolescents’ decisional conflict post joint decision-making should be assessed in future studies.
Previous studies have reported that most adolescents with or at risk for a genetic condition, and their parents, want to learn all secondary findings when proposed hypothetically.16,23,40 Unlike these previous studies, our study showed that adolescents unselected for clinical indication chose to learn fewer conditions if they experienced higher decisional conflict. Participants’ choices to learn selected results may reflect their familiarity with the condition and their comfort with the uncertainty of receiving unexpected information about their health.20 Based on our findings, providing flexibility of choice about the types of genomic results one can learn seems to be important especially for adolescents with higher decisional conflict. Additional research is needed to determine whether adolescents undergoing genome sequencing for clinical purposes experience decisional conflict when making decisions about learning secondary findings.
When assessing reasons for adolescents’ choices in our study, adolescents with high decisional conflict were more likely than those with low decisional conflict to indicate they did not want health information if there was nothing they could do about it and that they only wanted results if they could prevent the onset of disease. These influencing factors were also expressed during joint decision-making sessions, where adolescents indicated that their choices were influenced not just by the actions they could take to reduce their disease risk, but also by making choices to avoid information that could influence life plans.13 It is unclear whether there is an association between anxiety and level of decisional conflict.41,42 In our study, adolescents with higher decisional conflict were more likely than those with lower decisional conflict to indicate they were less confident with their ability to deal with the results. It is unclear if higher anxiety about learning nonactionable results, with potential future health repercussions, as an adolescent was a reason adolescents with higher decisional conflict chose to learn fewer results.43 Additional research is needed to better understand the relationships between adolescent’s choices, factors influencing those choices, and decisional conflict.
Adolescents and parents in our study selected the same top three factors as influencing their decisions about learning secondary genomic results (improve health, help others, learn as much as possible). However, parents were more likely than adolescents to indicate privacy and confidentiality of genetic test results from medical records and health insurance companies were influencing factors when deciding to learn secondary genomic results about their adolescent. Parents likely have more experience dealing with health insurance and knowledge about potential discrimination on the basis of medical information compared to adolescents. Adolescents who are growing up in this era of social networking have been confronted with issues of digital privacy but may not be as familiar with the concerns of privacy and confidentiality of genomic test results.25,29 With the advancement of genomic technologies to include the ability to upload one’s genetic information online, and access genomic information on mobile applications,25,44,45 greater focus needs to be directed to issues of privacy and confidentiality. Involving adolescents in discussions about privacy and confidentiality of genomic results to help them become more informed genomic citizens25 should be of high priority.
4.1 |. Limitations
Ours was a convenience sample and findings may not be generalizable to all adolescents and parents who make decisions about learning genomic information. Over 90% of our participants indicated helping others influenced their choices, implying that participants in our study may be biased toward willingness to participate in research studies. In addition, adolescents and parents enrolled in our study did so without being selected based on clinical indication. Hence, our data may not reflect similar decisional conflict experienced by those in clinical settings who are considering learning about secondary findings when pursuing genomic testing for diagnostic purposes. Participants in our study were predominantly white participants and all were English speaking. Others have shown that differences in decisional conflict exist by race, ethnicity, and language spoken.46 Due to the limits of the generalizability of the study, additional studies are needed that engage adolescents and parents particularly in medically underserved areas and for whom English is not their first language.
Finally, although the questions assessing influencing factors among parents and adolescents were investigator-developed and not validated, we have no reason to suspect that adolescents and parents interpreted the questions differently.
5 |. CONCLUSION
This study provides a snapshot of the decisional conflict faced by adolescents, who were not selected based on clinical indication, when making independent choices to learn specific genomic results. With the increase in utilization of and accessibility to genomic testing, engaging adolescents in the genomic testing decisions and developing strategies to reduce decisional conflict is crucial. Our findings add to the limited evidence regarding adolescent participation in decision-making about genomic results and suggest that adolescents may experience higher decisional conflict than their parents. While some may interpret decisional conflict in adolescents as an indication for parents to be the primary decision makers, we suggest more research be directed to help understand and clarify doubts in adolescents and identify opportunities to engage adolescents in shared decision-making to reduce their decisional conflict. Our findings may help inform future guideline revisions to facilitate the optimal participation of adolescents in making decisions about receiving genomic results.
ACKNOWLEDGEMENTS
This research is part of a single site eMERGE III network project initiated and funded by the National Human Genome Research Institute (NHGRI) through grant U01HG8666 (Cincinnati Children’s Hospital Medical Center, John B. Harley, PI) and was also supported by the National Institutes of Health’s National Center for Advancing Translational Sciences under award number UL1 TR001425. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
This study was conducted when the first author was enrolled in the Genetic Counseling Graduate Program, College of Medicine, University of Cincinnati and Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH. The authors would like to thank the study clinical research coordinators who recruited participants and managed the study visit procedures (Matthew Veerkamp, Larragem Parsley, Paul Gecaine) and the genetic counseling trainees who helped with facilitated joint discussions (Alanna Kongkriangkai, Jessica Shank, Kayleigh Swaggart, Josie Pervola and Bryana Rivers).
Footnotes
CONFLICT OF INTEREST
The authors declare no conflict of interest.
DATA AVAILABILITY STATEMENT
The data that support the findings of this study are available from the senior author upon reasonable request.
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