Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews.

BACKGROUND: Risk assessment for hereditary cancer syndromes is recommended in primary care, but family history is rarely collected in enough detail to facilitate risk assessment and referral - a roadblock that disproportionately impacts individuals with healthcare access barriers. We sought to qualitatively assess a literacy-adapted, electronic patient-facing family history tool developed for use in diverse, underserved patient populations recruited in the Cancer Health Assessments Reaching Many (CHARM) Study. METHODS: Interview participants were recruited from a subpopulation of CHARM participants who experienced barriers to tool use in terms of spending a longer time to complete the tool, having incomplete attempts, and/or providing inaccurate family history in comparison to a genetic counselor-collected standard. We conducted semi-structured interviews with participants about barriers and facilitators to tool use and overall tool acceptability; interviews were recorded and professionally transcribed. Transcripts were coded based on a codebook developed using inductive techniques, and coded excerpts were reviewed to identify overarching themes related to barriers and facilitators to family history self-assessment and acceptability of the study tool. RESULTS: Interviewees endorsed the tool as easy to navigate and understand. However, they described barriers related to family history information, literacy and language, and certain tool functions. Participants offered concrete, easy-to-implement solutions to each barrier. Despite experience barriers to use of the tool, most participants indicated that electronic family history self-assessment was acceptable or preferable in comparison to clinician-collected family history. CONCLUSIONS: Even for participants who experienced barriers to tool use, family history self-assessment was considered an acceptable alternative to clinician-collected family history. Barriers experienced could be overcome with minor adaptations to the current family history tool. TRIAL REGISTRATION: This study is a sub-study of the Cancer Health Assessments Reaching Many (CHARM) trial, ClinicalTrials.gov, NCT03426878. Registered 8 February 2018.

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

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; odds ratio [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.

Adaptation and early implementation of the PREdiction model for gene mutations (PREMM5™) for lynch syndrome risk assessment in a diverse population.

Lynch syndrome (LS) is the most common inherited cause of colorectal and endometrial cancers. Identifying individuals at risk for LS without personal cancer history requires detailed collection and assessment of family health history. However, barriers exist to family health history collection, especially in historically underserved populations. To improve LS risk assessment in historically underserved populations, we adapted the provider-facing PREdiction Model for gene Mutations (PREMM5™ model), a validated LS risk assessment model, into a patient-facing electronic application through an iterative development process involving expert and patient stakeholders. We report on preliminary findings based on the first 500 individuals exposed to the adapted application in a primary care population enriched for low-literacy and low-resource patients. Major adaptations to the PREMM5™ provider module included reduction in reading level, addition of interactive literacy aids, incorporation of family history assessment for both maternal and paternal sides of the family, and inclusion of questions about individual relatives or small groups of relatives to reduce cognitive burden. In the first 500 individuals, 90% completed the PREMM5™ independently; of those, 94% did so in 5 min or less (ranged from 0.2 to 48.8 min). The patient-facing application was able to accurately classify 84% of patients as having clinically significant or not clinically significant LS risk. Our preliminary results suggest that in this diverse study population, most participants were able to rapidly, accurately, and independently complete an interactive application collecting family health history assessment that accurately assessed for Lynch syndrome risk.

Cancer Health Assessments Reaching Many (CHARM): A clinical trial assessing a multimodal cancer genetics services delivery program and its impact on diverse populations.

Advances in the application of genomic technologies in clinical care have the potential to increase existing healthcare disparities. Studies have consistently shown that only a fraction of eligible patients with a family history of cancer receive recommended cancer genetic counseling and subsequent genetic testing. Care delivery models using pre-test and post-test counseling are not scalable, which contributes to barriers in accessing genetics services. These barriers are even more pronounced for patients in historically underserved populations. We have designed a multimodal intervention to improve subsequent cancer surveillance, by improving the identification of patients at risk for familial cancer syndromes, reducing barriers to genetic counseling/testing, and increasing patient understanding of complex genetic results. We are evaluating this intervention in two large, integrated healthcare systems that serve diverse patient populations (NCT03426878). The primary outcome is the number of diagnostic (hereditary cancer syndrome) findings. We are examining the clinical and personal utility of streamlined pathways to genetic testing using electronic medical record data, surveys, and qualitative interviews. We will assess downstream care utilization of individuals receiving usual clinical care vs. genetic testing through the study. We will evaluate the impacts of a literacy-focused genetic counseling approach versus usual care genetic counseling on care utilization and participant understanding, satisfaction, and family communication. By recruiting participants belonging to historically underserved populations, this study is uniquely positioned to evaluate the potential of a novel genetics care delivery program to reduce care disparities.

Participant Reactions to a Literacy-Focused, Web-Based Informed Consent Approach for a Genomic Implementation Study.

BACKGROUND: Clinical genomic implementation studies pose challenges for informed consent. Consent forms often include complex language and concepts, which can be a barrier to diverse enrollment, and these studies often blur traditional research-clinical boundaries. There is a move toward self-directed, web-based research enrollment, but more evidence is needed about how these enrollment approaches work in practice. In this study, we developed and evaluated a literacy-focused, web-based consent approach to support enrollment of diverse participants in an ongoing clinical genomic implementation study. Methods: As part of the Cancer Health Assessments Reaching Many (CHARM) study, we developed a web-based consent approach that featured plain language, multimedia, and separate descriptions of clinical care and research activities. CHARM offered clinical exome sequencing to individuals at high risk of hereditary cancer. We interviewed CHARM participants about their reactions to the consent approach. We audio recorded, transcribed, and coded interviews using a deductively and inductively derived codebook. We reviewed coded excerpts as a team to identify overarching themes. Results: We conducted 32 interviews, including 12 (38%) in Spanish. Most (69%) enrolled without assistance from study staff, usually on a mobile phone. Those who completed enrollment in one day spent an average of 12 minutes on the consent portion. Interviewees found the information simple to read but comprehensive, were neutral to positive about the multimedia support, and identified increased access to testing in the study as the key difference from clinical care. Conclusions: This study showed that interviewees found our literacy-focused, web-based consent approach acceptable; did not distinguish the consent materials from other online study processes; and valued getting access to testing in the study. Overall, conducting empirical bioethics research in an ongoing clinical trial was useful to demonstrate the acceptability of our novel consent approach but posed practical challenges.

A decision aid for additional findings in genomic sequencing: Development and pilot testing.

OBJECTIVE: To describe the development of a web-based, patient-facing decision aid to support patients and research participants to make an informed, values-based decision about whether to receive additional results from genomic sequencing. METHODS: We developed the decision aid following the multi-step process described in the International Patient Decision Aids Standards. This utilized literature review, focus groups, and alpha testing with research participants undergoing clinical genomic sequencing. RESULTS: The decision aid, the Optional Results Choice Aid (ORCA), includes a seven-question "values clarification exercise," illustrative patient quotes, and summative guidance for the user. The decision aid was found to be highly readable, acceptable and relevant in alpha testing. CONCLUSION: We developed a decision aid to support informed, values-based decision making for patients and research participants considering whether to receive additional results from genomic sequencing. ORCA is being implemented in the NHGRI-funded Cancer Health Assessment Reaching Many (CHARM) study, where we are measuring informed values-choice congruence. PRACTICE IMPLICATIONS: ORCA was designed to support patients and research participants to make an informed, values-based decision about whether to receive additional results from genomic sequencing.

Using web-based screening to enhance efficiency of HMO clinical trial recruitment in women aged forty and older.

BACKGROUND: Screening potential participants for clinical trials can be labor-intensive, particularly when using long questionnaires administered by telephone. PURPOSE: This report describes the development and use of an interactive recruitment website as a supplemental screening strategy for a study using telephone screening interviews. METHODS: Female HMO members, aged 40 and older, were recruited for a study testing dietary change interventions. Cohorts of potential participants were identified from electronic membership records every two to four weeks; they were sent a letter describing the study and then contacted by telephone. Those interested in the study were asked to complete a 27-question screening interview focused on dietary habits. After 14 cohorts of women were recruited by this method (n=4246), a recruitment website was added and an additional 12 cohorts (n=3000) were contacted. The modified recruitment letter for these later screening cohorts included the website address and a personal password for each woman. The website contained study information, and those who were interested could complete eligibility screening on-line. RESULTS: Proactive participant response (women actively seeking study participation/screening) to the recruitment mailing was 9.5% (95% confidence interval (CI), 8.6-10.4%) in the cohorts without the website option and 11.5% (CI, 10.4-12.7%) after addition of the website option (P=0.004). About half of women screened were ineligible for the study, a proportion that did not statistically differ by recruitment method. LIMITATIONS: The study population was limited to middle-aged and older female members of a non-profit health plan, so the generalizability of these findings to other populations is unknown. The pre-post design used in this study does not control for possible temporal changes unrelated to the study methods. CONCLUSIONS: The addition of the website screening option was associated with a relative 22% increase in recruitment combined with reduced staff time required for screening, thereby increasing screening efficiency. Web-based options for clinical trial recruitment and screening in targeted populations may increase response rates while also reducing staff time.

Overcoming Depression on the Internet (ODIN) (2): a randomized trial of a self-help depression skills program with reminders.

BACKGROUND: Guided self-help programs for depression (with associated therapist contact) have been successfully delivered over the Internet. However, previous trials of pure self-help Internet programs for depression (without therapist contact), including an earlier trial conducted by us, have failed to yield positive results. We hypothesized that methods to increase participant usage of the intervention, such as postcard or telephone reminders, might result in significant effects on depression. OBJECTIVES: This paper presents a second randomized trial of a pure self-help Internet site, ODIN (Overcoming Depression on the InterNet), for adults with self-reported depression. We hypothesized that frequently reminded participants receiving the Internet program would report greater reduction in depression symptoms and greater improvements in mental and physical health functioning than a comparison group with usual treatment and no access to ODIN. METHODS: This was a three-arm randomized control trial with a usual treatment control group and two ODIN intervention groups receiving reminders through postcards or brief telephone calls. The setting was a nonprofit health maintenance organization (HMO). We mailed recruitment brochures by US post to two groups: adults (n = 6030) who received depression medication or psychotherapy in the previous 30 days, and an age- and gender-matched group of adults (n = 6021) who did not receive such services. At enrollment and at 5-, 10- and 16-weeks follow-up, participants were reminded by email (and telephone, if nonresponsive) to complete online versions of the Center for Epidemiological Studies Depression Scale (CES-D) and the Short Form 12 (SF-12). We also recorded participant HMO health care services utilization in the 12 months following study enrollment. RESULTS: Out of a recruitment pool of 12051 approached subjects, 255 persons accessed the Internet enrollment site, completed the online consent form, and were randomized to one of the three groups: (1) treatment as usual control group without access to the ODIN website (n = 100), (2) ODIN program group with postcard reminders (n = 75), and (3) ODIN program group with telephone reminders (n = 80). Across all groups, follow-up completion rates were 64% (n = 164) at 5 weeks, 68% (n = 173) at 10 weeks, and 66% (n = 169) at 16 weeks. In an intention-to-treat analysis, intervention participants reported greater reductions in depression compared to the control group (P = .03; effect size = 0.277 standard deviation units). A more pronounced effect was detected among participants who were more severely depressed at baseline (P = .02; effect size = 0.537 standard deviation units). By the end of the study, 20% more intervention participants moved from the disordered to normal range on the CES-D. We found no difference between the two intervention groups with different reminders in outcomes measures or in frequency of log-ons. We also found no significant intervention effects on the SF-12 or health care services. CONCLUSIONS: In contrast to our earlier trial, in which participants were not reminded to use ODIN, in this trial we found a positive effect of the ODIN intervention compared to the control group. Future studies should address limitations of this trial, including relatively low enrollment and follow-up completion rates, and a restricted number of outcome measures. However, the low incremental costs of delivering this Internet program makes it feasible to offer this type of program to large populations with widespread Internet access.

Overcoming depression on the Internet (ODIN): a randomized controlled trial of an Internet depression skills intervention program.

BACKGROUND: Psychoeducational programs are increasingly being delivered over the Internet. We created an Internet-based, cognitive therapy, self-help program to be used as a stand-alone intervention for mild-to-moderate depression, or as an adjunct to traditional services for more severe depression. OBJECTIVE: To evaluate the effectiveness of a web-based intervention program to reduce depression in a randomized, controlled trial. METHODS: In a private, nonprofit health maintenance organization, we mailed recruitment brochures to two populations: depressed adults (n = 6994) who received traditional medical services for depression, and an age/gender matched sample of nondepressed adults (n = 6996). Participants consenting to the study were randomized to either the experimental Web site (n = 144), or a no-access control group (n = 155). Participants in both groups were free to obtain nonexperimental, usual care services for their depression. All participants completed an on-line version of the Center for Epidemiological Studies Depression Scale (CES-D) at enrollment and at 4-, 8-, 16- and 32-weeks after enrollment. Mean intake scores were in the severely depressed range. 74% of participants completed at least one follow-up assessment. Unfortunately, most intervention participants accessed the Internet site infrequently. RESULTS: We failed to find an effect for the Internet program across the entire sample. However, post-hoc, exploratory analyses revealed a modest effect among persons reporting low levels of depression at intake. CONCLUSIONS: The negative results might have resulted from infrequent patient use of the Internet site, or a more seriously depressed sample than the intervention was intended to help. Future studies should focus on recruiting persons with mild to moderate levels of depression, and on increasing participant use of the Internet site.