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. Author manuscript; available in PMC: 2023 Aug 1.
Published in final edited form as: Genet Med. 2022 May 6;24(8):1664–1674. doi: 10.1016/j.gim.2022.04.008

ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial

Elizabeth G Liles 1,*, Michael C Leo 1,*, Amanda S Freed 2, Kathryn M Porter 3, Jamilyn M Zepp 4, Tia L Kauffman 1, Erin Keast 1, Carmit K McMullen 1, Inga Gruß 1, Barbara B Biesecker 5, Kristin R Muessig 4, Donna J Eubanks 1, Laura M Amendola 2, Michael O Dorschner 2, Bradley A Rolf 2, Gail P Jarvik 2, Katrina AB Goddard 4, Benjamin S Wilfond 3,6
PMCID: PMC9586129  NIHMSID: NIHMS1810472  PMID: 35522237

Abstract

Purpose

Individuals having genomic sequencing can choose to be notified about pathogenic variants in genes unrelated to the testing indication. A decision aid can facilitate weighing one’s values before making a choice about these additional results.

Methods

We conducted a randomized trial (N = 231) comparing informed values-choice congruence among adults at risk for a hereditary cancer syndrome who viewed either the Optional Results Choice Aid (ORCA) or web-based additional findings information alone. ORCA is values-focused with a low literacy design.

Results

Individuals in both arms had informed values-choice congruence (75 and 73% in the decision aid and web-based groups, respectively; OR 1.10, 95% CI 0.58–2.08). Most participants had adequate knowledge (79 and 76% in the decision aid and web-based groups, respectively; OR 1.20, 95% CI 0.61–2.34), with no significant difference between groups. Most had information-seeking values (97 and 98% in the decision aid and web-based groups, respectively; OR 0.59, 95% CI 0.10–3.61) and chose to receive additional findings.

Conclusion

The ORCA decision aid did not significantly improve informed values-choice congruence over web-based information in this cohort of adults deciding about genomic results. Both web-based approaches may be effective for adults to decide about receiving medically actionable additional results.

Keywords: Genomic sequencing, secondary findings, incidental results, decision aid, informed consent

Introduction

Genomic sequencing (GS) may yield medically actionable findings outside of the indication for testing. The American College of Medical Genetics and Genomics (ACMG) recommends that laboratories report these additional (also called secondary) findings to all patients having clinical genomic sequencing tests.1 We use the term ‘additional’ to describe these findings here, based on prior research indicating that patients prefer this term over others.2 Acknowledging that some people may not want to learn about additional results, ACMG also recommends that the informed consent process include the risks and benefits of receiving additional findings and the option to not receive them.

Pre-test genetic counseling for GS, including discussion of additional findings, is a time-intensive process.3 There are not enough genetic counselors to provide this to all patients who may benefit from GS, a situation that is expected to persist into the next decade.4,5 Accessible tools that can guide patients to make informed decisions about GS, including receiving additional findings, are needed. Web-based decision aids may streamline the informed consent process,6,7 while broadening access to genetic services.4,8,9 Two existing web-based decision aids and a set of educational videos for deciding about GS and additional findings have been well-received by study participants as an adjunct to pre-test genetic counseling.10–12

Less is known about the use of decision aids with minimal or no pre-test genetic counseling for helping individuals decide about additional findings. We also know little about the utility of lower-literacy decision aids for making GS decisions. While many decision aids compare quantitative estimates of benefit and risk,13 communicating the risk levels for potential additional findings is complicated, given that each finding can signify a unique prevalence, inheritance pattern, disease penetrance, and potential disease severity.14,15

To address these gaps, we designed a decision aid, ORCA, to help adults with varying levels of literacy decide about receiving additional findings of GS, focusing mainly on self-assessment of values, not on detailed descriptions of disease risk. After consenting to receive exome-based panel testing in the Cancer Health Assessments Reaching Many (CHARM) study,16, a subset of CHARM participants were enrolled in the randomized trial comparing the decision aid to web-based information alone. We studied the specific effects of the decision aid on decisional quality, as measured by “informed values-choice congruence.” This outcome combines understanding of key concepts and the consistency of the individual’s decisional choice with stated values.17,18 Informed values-choice congruence may be less susceptible to recall bias than decisional conflict, which is based on answers to questions about how participants felt about their decision-making process. We hypothesized that decision aid users would be more likely to achieve informed values-choice congruence than participants viewing web-based information alone.

Materials and Methods

Setting

Our study was one component of the CHARM study (ClinicalTrials identifier: NCT03426878), which seeks to increase access to genetic testing and counseling for hereditary cancer syndromes for adults ages 18–49 years, with a focus on recruiting diverse English and Spanish speaking adults.16 CHARM was conducted at Kaiser Permanente Northwest (KPNW), an integrated health plan serving an all-insured population in Oregon and southwest Washington, and at Denver Health (DH), an integrated safety-net health system primarily serving patients who are publicly insured or uninsured in Colorado.16

Study design

Figure 1 illustrates the study design. Most (98%) participants completed the consent process online without contact with study staff, while the rest (2%) completed it in a clinic setting with study staff available to answer questions. Interested patients completed a web-based family history risk assessment.19 Eligible patients then sequentially received web-based information about cancer genetic testing followed by information about the CHARM study; this initial part of the consent did not describe additional findings.20 Participants who consented to receive genomic sequencing from November 2019 through March 2020 were randomly assigned 1:1 to receive web-based information on additional findings (‘web-based’ group), or to receive a web-based decision aid to facilitate decisions about receiving additional findings (‘decision aid’ group). Participants learned as part of consent that the intent of CHARM was to learn how to best deliver medical care to those with hereditary cancer syndromes but did not receive a description of specific study designs. No time constraints were imposed on risk assessment or consent procedures. Randomization to different pathways to decide about additional findings was integrated into an electronic tracking system with sequential assignment of participants to numbered rows in a computer-generated sequentially numbered container table. The table row pattern was stratified by study site and used permuted blocks with randomized block sizes of 4, 6, and 8. A limited number of study staff members could trigger electronic randomization for participants when they had met programmed criteria for eligibility within the tracking system; though, the randomization table was blinded to all study staff (except for the web developer as needed for maintenance or troubleshooting) and to participants. Both the web-based and decision aid groups could choose to receive or not receive additional findings. The intervention group responded to ORCA value questions, reviewed illustrative quotes and received the summative feedback prior to making their choice. We implemented the decision aid randomization exclusively with English-speaking participants, due to time constraints and the small number of participants preferring Spanish materials.

Figure 1.

Figure 1.

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Flowchart of CHARM study design and embedded randomized trial of a decision aid about receiving additional findings.

After deciding whether they wanted the additional findings, participants in both groups were directed to a survey within REDCap.21 There, participants completed scales that assessed decisional conflict and genetic testing knowledge (as well as multiple other domains for the CHARM study, including self-reported race and ethnicity). Participants in the web-based arm also responded to the ORCA values statements in this survey. After deciding about the additional findings, participants provided a saliva sample and sent it to the laboratory for testing. Most participants completed consent and the baseline survey remotely and received a saliva testing kit in the mail, which they could complete with self-collection at home; 3 (1.5%) participants gave their consent in a clinical setting and received the test kit in person. Participants who completed the survey and provided a saliva sample received a $30 incentive. We assessed decisional regret (about the decision to receive additional results) for all participants in a follow-up survey one week after result disclosure.

Information contained within both the web-based and decision aid groups

Using plain language, we presented four core concepts about additional, medically actionable genomic findings to both the web-based and decision aid groups: (1) the findings can be acted upon to improve health, (2) they may include findings that would not be detected in usual medical care, (3) they represent a genetic risk rather than a certain diagnosis, and (4) a lack of additional findings does not guarantee a lack of risk for disease. Specific examples followed the concept descriptions. We used identical language in each group to describe and illustrate the four core concepts. At the end of the information, participants in the web-based group selected whether or not to receive additional results. We defined additional results as medically actionable findings in adults, excluding cancer related-results, which are traditionally additional results; participants received cancer-related results as the primary indication for testing for the CHARM study. See Supplemental Table 1 for the list of included gene-disease pairs.

Decision aid (ORCA)

We developed ORCA to guide participants through an exercise to clarify their values about receiving optional genomic results. A detailed description of decision aid development has been published.22

We asked participants randomized to the decision aid group to rate their agreement or disagreement on a four-point Likert scale with seven statements about values pertinent to the choice to receive additional findings (we asked those in the web-based group to go through the same exercise, though they did so within a REDCap-based questionnaire, after they had already decided about receiving additional findings). In the decision aid group, we interspersed 1–2 values statements between each information section. The end of the decision aid also illustrated alternate viewpoints with patient quotes—one describing a rationale for receiving additional findings and one describing a rationale for declining them. A final summative statement provided feedback on the participant’s responses to the values statements. Participants could select a choice to receive or not receive additional findings that agreed with (or was contrary to) their value summative statement. See Supplemental Figure 1 for an excerpt from ORCA.

Study measures

We refined and validated the content of the values clarification exercise, knowledge constructs and comprehension assessment using a modified Delphi method. We solicited input using expert focus groups, surveys and participant interviews; a detailed description is published elsewhere.22

Values-choice congruence.

This outcome was derived from the Likert scale answers provided in response to the values statements in combination with the choice made to receive (or not receive) the additional genomic results. Answers to the values statements ranged from 1 (Strongly Disagree) to 4 (Strongly Agree). Two composite scores were derived from the seven value statements. The ‘opt in score’ was the mean of the answers to four questions for which the positive answers were consistent with a desire to receive the findings. The ‘opt out score’ was the mean of the answers to three questions for which the positive answers were consistent with a desire to not receive the findings. Patients were classified as having ‘values-choice congruence’ if (1) the patient’s ‘opt in score’ was greater than the ‘opt out score,’ and they decided to receive the additional findings or (2) the patient’s ‘opt out score’ was greater than the ‘opt in score’ and they decided not to receive the additional findings. Those without these patterns of congruence were deemed “values-choice incongruent.”

Adequate knowledge.

Eight true-false survey questions developed and tested by the study team and pre-decision aid study participants assessed understanding of the four key concepts of additional findings described in both the web-based and decision aid groups. Two questions evaluated each of the four concept domains. We defined adequate knowledge as answering at least one question correctly within each of the four domains and answering six or more questions correctly. This definition of ‘adequate knowledge’ was determined by consensus of a multidisciplinary steering committee, who prioritized comprehension of the four key concepts of additional findings and knew of the consistently high scores achieved in alpha testing of these questions (92–100%).22

Informed values-choice congruence.

We categorized someone as having “informed values-choice congruence” if they had both values-choice congruence and adequate knowledge (see definitions of ‘values choice congruence’ and ‘adequate knowledge’ above).6,17,18 Any other combination categorized participants as not having informed values-choice congruence.

Decisional conflict.

We used the validated low-literacy version of the Decision Conflict Scale (DCS) to assess decisional conflict;23 higher scores indicated greater decisional conflict.

Decisional regret.

We measured decision regret with the Decisional Regret Scale;24 higher scores indicated greater decisional regret.

Time spent.

Using a web-based program, we measured and compared the time, in minutes, spent in the web-based information and the time spent in the decision aid. The time spent did not include the amount of time used to view the consent information preceding these.

Statistical Analysis

Multiple imputation of missing data

Some participants did not answer questions on decisional conflict (n = 5), values statements (n = 11 in the web-based group only), or comprehension of key concepts (n = 23). To handle missing data, we used multiple imputation with data augmentation via multivariate normal regression. All variables (except result disclosure) were used, as well as several auxiliary variables. Examination of imputation diagnostics suggested that forty datasets would lead to an appropriate solution.25 We used adaptive rounding for the individual knowledge items, as a binary indicator was required to use these as outcomes in a logistic regression; rounded versions were not used to form knowledge scale continuous scores. A sensitivity analysis using original data for a given outcome (i.e., pairwise deletion) demonstrated similar results to the pooled estimates across the imputed datasets; we report the results from the multiple imputation.

Analysis of outcomes

We used multiple logistic regression to determine whether those in the decision aid group were more likely to make an informed values-choice congruent decision than those in the web-based group. The binary indicator of informed values-choice congruence was the dependent variable; binary indicators of arm (0=web-based, 1= decision aid) and the randomization stratification factor of site (0=DH, 1=KPNW) were the independent variables. A significant odds ratio > 1 would support the effectiveness of the decision aid. We used the same analytical approach for the secondary binary outcomes of values-choice congruence, decision to receive additional findings, and adequate knowledge. For the continuous secondary outcomes of knowledge level, decisional conflict, decisional regret, and time spent, we used multiple linear regression to compare the two arms. The independent variables were the same as described for the logistic regression model.

Power Analyses

Based on a review of the literature, we assumed a web-based base rate of 25% for making an informed values-choice congruent decision.17,18 We planned on randomization of n = 234 in the trial and assumed that 93% (n=216) of participants would complete all or part of the baseline survey, based on completion rates prior to our trial. Given this base rate, sample size, and a two-tailed alpha level of .05, we had 80% power to detect an odds ratio for arm of at least 2.29, or an 18.3% or larger difference between the web-based (25% informed values-choice congruence) and web-based decision tool arms (43.3% informed values-choice congruence). This difference is smaller than what has been found in prior studies of informed values-choice congruence.17,18 Power calculations were performed with PASS 15.26

Results

See Figure 2 for the CONSORT flow diagram of study enrollment, allocation, baseline data, follow-up data and analysis. A total of 231 participants were randomly assigned to the decision aid and web-based groups and 203 participants subsequently completed part or all of the baseline survey.

Figure 2.

Figure 2.

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CONSORT flow diagram of study enrollment, allocation, baseline data, follow-up data and analysis.

Table 1 shows participants’ baseline demographic characteristics. Groups were comparable by age, sex, race and ethnicity, household income, educational level, and insurance type.

Table 1.

ORCA RCT participant characteristics (N= 203)

Decision Aid Web-Based
N N
All (%) 96 (100) 107 (100)
Age (mean, SD) 37.9 (7.8) 34.7 (8.3)
Sex (%)
  Female 83 (87) 85 (79)
  Male 13 (13) 22 (21)
Race/Ethnicity (%)
  Asian 9 (9) 9 (8)
  Black 7 (7) 11 (10)
  Hispanic 22 (23) 35 (33)
  Middle Eastern 2 (2) 0 (0)
  Multiracial/multiethnic 10 (10) 13 (12)
  Native American 3 (3) 2 (2)
  Pacific Islander 0 (0) 2 (2)
  White 43 (45) 35 (33)
Income (%)
  Less than $20,000 6 (6) 11 (10)
  $20,000 to $39,999 12 (12) 17 (16)
  $40,000 to $59,999 14 (15) 20 (19)
  $60,000 to $79,999 18 (19) 14 (13)
  $80,000 to $99,999 8 (8) 14 (13)
  $100,000 to $139,999 13 (14) 12 (11)
  $140,000 or more 14 (15) 5 (5)
  Unknown 11 (11) 14 (13)
Education (%)
  Less than high school (less than 9th grade) 1 (1) 0 (0)
  Some high school (9th to 12th grade), no diploma 0 (0) 4 (4)
  High school graduate (diploma or GED or equivalent) 6 (6) 6 (6)
  Some post-high school training (college or occupational, technical, or vocational training), no degree or certificate 14 (15) 20 (19)
  Associate (2-year) college degree, or completed occupational, technical, or vocational program and received degree or certificate 13 (14) 19 (18)
  Bachelor’s degree (for example: BA, AB, BS) 29 (30) 28 (26)
  Graduate or professional degree (for example: MA, MBA, JD, MD, PhD) 22 (23) 16 (15)
  Unknown 11 (11) 14 (13)
Insurance (%)
  Private: employer 61 (64) 61 (57)
  Unknown 11 (11) 14 (13)
  Medicaid 8 (8) 13 (12)
  Private: individual 9 (9) 9 (8)
  Uninsured 2 (2) 6 (6)
  Medicare 3 (3) 2 (2)
  Other 2 (2) 2 (2)
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ORCA Optional Results Choice Aid; RCT Randomized controlled trial

Values Assessments

Supplemental table 2 shows the mean scores for the values statements. Across most values statements, there were no significant differences between groups. Participants in the decision aid group reported feeling more comfortable seeing doctors.

Knowledge

Supplemental table 3 shows knowledge about additional findings in both groups. Both groups scored highly on the four key domains. There were no significant differences between groups. The domain with the highest proportion of correct answers (84%−92%) was the understanding that negative results do not guarantee a lack of risk for diseases. More than 75% (76%−78%) of participants answered questions correctly regarding whether an additional finding indicated increased genetic risk, not a diagnosis. Participants less consistently knew that the health risks noted by additional findings could improve with medical action (83% for one item, 67%−76% for the other) or that additional findings could reveal a health problem not previously detected in usual medical care (86%−89% for one item, 63%−72% for the other).

Primary and secondary outcomes

Table 2 shows the results for the primary and secondary binary outcomes in each group. Supplementary Table 4 shows results for the secondary continuous outcomes. Figure 3 illustrates results relevant to components of the primary outcome, informed values-choice congruence.

Table 2.

Pooled multiple logistic regression analyses and adjusted percentages by arm for binary outcomes

Study group
Outcomes Decision Aid Web-Based Odds Ratio 95% CI for Odds Ratio p
Knowledge
Demonstrated adequate knowledge (%) 79% 76% 1.20 [0.61, 2.36] .59
Values
Valued opting in to receiving additional findings (%) 93% 93% 1.01 [0.33, 3.08] .98
Decision
Chose to receive additional findings (%) 97% 98% 0.59 [0.10, 3.59] .56
Values-choice congruence
Made a values-choice congruent decision (%) 93% 92% 1.20 [0.38, 3.82] .75
Informed values-choice congruence
Made an informed, values-choice congruent decision (%) 75% 73% 1.11 [0.59, 2.10] .75
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Notes: n=203. All values reflect the pooled estimates across the 40 datasets using Rubin’s rules and are adjusted for the stratification variable of site.

Figure 3.

Figure 3.

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Schematic diagram of results relevant to components of the primary outcome, informed values-choice congruence.

Primary Outcome

Participants who received the decision aid were not more likely to make an informed values-choice congruent decision than those who received the web-based information (OR 1.10, 95% CI 0.58–2.08; p = 0.77).

Secondary Outcomes

There was no significant difference between the groups in the overall proportion of correct answers to knowledge questions or in the proportions with ‘adequate’ knowledge (‘adequate knowledge’: OR 1.20, 95% CI 0.61–2.34; p = 0.97). Most participants in each group (93%) answered the values statements consistently with wanting to receive additional findings (OR 1.01, 95% CI 0.33–3.08; p = 0.98). High proportions (97% and 98% for decision aid and web-based, respectively) also elected to receive additional findings (OR 0.59, 95% CI 0.10–3.59; p = 0.56). Nearly equivalent proportions in each group made a values-choice congruent decision (94% and 93%, respectively; OR 1.19, 95% CI 0.38–3.76; p = 0.77). Mean decisional conflict and mean decisional regret were not significantly different between the two groups; both groups demonstrated low decisional conflict (18.68 and 21.69 in the decision aid and web-based groups, respectively) and low decisional regret (8.00 and 10.25 in the decision aid and web-based groups, respectively) overall.

In evaluating time spent considering the decision aid and the decision about additional findings, we used winsorization to consider extreme outlier values to be equivalent to the highest reasonable time (just over 2 hours). Completing the decision aid took almost two additional minutes than viewing the web-based information only, IRR=3.94, 95% CI [2.96, 5.24]. Mean time spent considering the information, values assessment and decision about additional findings was 2.66 (SD= 0.20) minutes in the decision aid group, compared to 0.67 (SD=0.08) minutes considering the information and the decision about additional findings in the web-based group. Median times spent were 1.85 and 0.45 minutes, respectively.

Discussion

In this randomized trial, a values-focused decision aid (ORCA) did not affect the quality of the decision (as defined by informed values-choice congruence) about receiving medically actionable additional findings of genomic sequencing, when compared to web-based information alone. About three quarters of participants in both study arms made an informed, values-choice congruent decision. In a previous randomized trial (N = 225) that offered the option of learning additional findings from GS, about 60% of women receiving a low-literacy or standard consent form as an adjunct to pre-GS genetic counseling achieved informed choice.27 This study’s participants were more highly educated than those in our study. 73% of their participants overall had adequate knowledge of genomic concepts after the intervention (compared to our rate of 77% having adequate knowledge overall), with no difference in the rates of informed choice about receiving additional findings between groups. As in our study, most participants had positive attitudes toward receiving additional findings and expressed high intentions to learn of them, consistent with their intent to learn the primary genomic results in these studies. The findings of both of these studies contrast with studies of adults making decisions about invasive medical interventions, in which participants faced a medical procedure with more immediate consequences; knowledge scores differed substantially between the intervention and control groups and there was variability in choice and in values-choice congruence.17,18

We provided identical information to both groups at a low literacy reading level and focused on four key concepts. There were relatively high knowledge scores after a brief interaction with the web-based consent information or consent information plus decision aid. One explanation is that the high knowledge of genetics concepts across a socioeconomically and racially diverse population after exposure to CHARM consent materials may be a strength of the CHARM consent process, including ORCA.1 Alternatively, it is possible that some of the genomic concepts we targeted for testing knowledge were more readily recognized from our consent materials because more than half of our participants had education or training beyond high school. More of our study participants have a college degree than those responding to the United States Census survey,28 though fewer have a college degree or postgraduate degree than participants in other genomic studies.11,27 Lastly, it is also possible that participants in our study had enough genetic knowledge prior to the consent process to achieve high knowledge scores (though awareness and understanding of genetic testing have been described as low among ethnic minority groups).29 The CHARM study population is notably more racially diverse than those that have previously participated in research studies.30 Our study results may inform refinement of recent guidance about the need for pre-test genetic counseling for individuals considering genetic testing;31 for medically actionable findings, some adults may derive enough information from written or web-based materials to make an informed decision.

We found high informed values-choice congruence across our study in the context of homogenous reported participant values about receiving medically actionable additional findings. Our participants also had uniformly low decisional conflict. Most participants in each group indicated values consistent with receiving additional findings (wanting information, with less emphasis on anxiety or difficulty with health care visits), providing new insight into how adults weigh these considerations. Almost all participants elected to receive additional findings and made a values-congruent choice. This desire to know may reflect the ‘healthy volunteer bias’ of research participants seeking genetic information32 (though 7% of the CHARM study population had a prior history of cancer). Yet, it is also consistent with prior studies indicating that most adults wish to receive additional, medically actionable results of their own GS.27,33,34 A study of 8,843 individuals offered additional findings during consent for genomic sequencing found that almost half of the 2% of participants who initially refused additional findings subsequently accepted them when offered them a year later. Very few research participants persistently refused to learn of additional findings. The authors recommended a default approach of opting in for medically actionable, “high value” additional findings, with an option for those persistently wanting to opt out to decline receiving them.35 The self-identification and weighting of values within ORCA was designed to direct participants toward the decision most consistent with values, though the choice is left to the users without a default decision made for them.

Participants in this study exhibited low decisional regret. This finding may reflect the low overall prevalence of additional findings, as only two participants had positive additional result findings (a comparable proportion to that in other studies).36–38 Both participants had a decisional regret score (obtained after learning of results) of zero, which may be reflective of the existence of well-established treatment available for both conditions. Nonetheless, a prior large study of participants with a wide range of additional finding results similarly found that they were not anxious or distressed after learning their additional results.39

While robust, our study is not without limitations. We presented the decision aid only to English-speaking participants and so did not access some of the variability in cultural viewpoints that could be represented by those who do not speak English. We did not study decision making for all types of additional findings but focused on those that were medically actionable findings, the most common type offered in laboratories in the United States.40 ORCA did not attempt to describe or explain heterozygote findings or additional findings that do not have established medical interventions. Other decision aids describe a wider range of additional finding types, though require a greater investment of time for individuals to view, as an adjunct to pre-test genetic counseling.10,41 This study did not target recruitment of participants living in rural areas, who may have different priorities or values than adults who live closer to urban medical care. Answers to the values statements among those in the web-based group may have been affected by confirmation bias, since they decided about receiving additional findings prior to the self-evaluation of values. Nonetheless, we minimized this effect by having the web-based information group complete the values self-assessment shortly after deciding about these findings and before receiving their genomic results. A final limitation of this study is our inability to detect small differences in informed values-choice congruence, as a result of the uniformly high health information-seeking values, and the high proportions in each group choosing to receive additional findings; a larger sample size would improve our power to find small differences between the groups for this outcome.

Conclusions

Most adults in the CHARM study seeking GS valued getting medically actionable additional findings, leading to an informed values-congruent decision. The ORCA decision aid did not significantly improve decisional quality over web-based consent information in adults at increased risk for a hereditary cancer syndrome deciding about receiving their genomic results. Both web-based approaches may be effective. We could find no prior studies of genomic sequencing decisions in the literature that targeted rural adults. They may prefer less information about potential health problems than those who can easily travel for screening tests or risk-reducing procedures. Self-evaluation of values may be helpful in a clinical setting for those adults who have concerns about insurability or other reasons they do not want all available genomic information at the time of testing.

Supplementary Material

1
2

Acknowledgements

At the Kaiser Permanente Center for Health Research, we would like to thank Mari Gilmore for participating in focus groups to develop ORCA and Charisma Jenkins for project management. We would like to additionally thank Katherine Anderson from Denver Health, Alan Rope from Genome Medical, Inc., and Galen Joseph from the University of California San Francisco for participating in focus groups to develop ORCA.

We would like to acknowledge all of the institutions participating in the CHARM study: Kaiser Permanente Northwest, Denver Health, Dana Farber Cancer Institute, Columbia University, University of Washington, Seattle Children’s Hospital, University of California San Francisco, Denver Health and Hospital Authority, and Emory University. The work of ASF was supported by postdoctoral training grant 5T32GM007454 from the National Institute of General Medical Sciences of the National Institutes of Health.

This work was funded as part of the Clinical Sequencing Evidence-Generating Research (CSER) consortium funded by the National Human Genome Research Institute with co-funding from the National Institute on Minority Health and Health Disparities (NIMHD) and the National Cancer Institute (NCI). This work was supported by grant UM1HG007292 (MPIs: Wilfond, Goddard), with additional support from U01HG007307 (Coordinating Center).

Footnotes

Ethics Declaration

The KPNW Institutional Review Board (IRB) reviewed and approved of the study. Use of the ORCA decision aid was part of the CHARM study consent process and study measures were integrated into existing CHARM study surveys. All collaborating IRBs ceded to KPNW except for Dana Farber Cancer Institute and Columbia University, which reviewed and approved the study separately.

Conflict of Interest Statement

Disclosure: The authors declare no conflicts of interest.

Data Availability

Data sources for this study include baseline and follow-up surveys, the input into which occur through a CHR-hosted REDCap database. An additional data source includes an electronic tracking system linked to the web-based risk assessment tool used to identify eligible participants; this same tracking system is also linked to the web-based consent form (which includes both web-based and decision aid arms deciding about additional findings receipt) and used to track enrollment. Data sharing policies across the Clinical Sequencing Evidence Generating Research (CSER) Consortium allow disclosure of these data outside of the Consortium only to those trained in human subjects research and privacy protections, only in aggregate, when de-identified and when Data Use Agreements are in place. Those seeking access to aggregate data reported in this study can contact the corresponding author (Beth.G.Liles@kpchr.org).

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Associated Data

This section collects any data citations, data availability statements, or supplementary materials included in this article.

Supplementary Materials

1
NIHMS1810472-supplement-1.pdf (658.2KB, pdf)
2
NIHMS1810472-supplement-2.xlsx (13.3KB, xlsx)

Data Availability Statement

Data sources for this study include baseline and follow-up surveys, the input into which occur through a CHR-hosted REDCap database. An additional data source includes an electronic tracking system linked to the web-based risk assessment tool used to identify eligible participants; this same tracking system is also linked to the web-based consent form (which includes both web-based and decision aid arms deciding about additional findings receipt) and used to track enrollment. Data sharing policies across the Clinical Sequencing Evidence Generating Research (CSER) Consortium allow disclosure of these data outside of the Consortium only to those trained in human subjects research and privacy protections, only in aggregate, when de-identified and when Data Use Agreements are in place. Those seeking access to aggregate data reported in this study can contact the corresponding author (Beth.G.Liles@kpchr.org).

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