Abstract 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.

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.

The presence of pathogenic bacteria is a major health risk factor in food samples and the commercial food supply chain is susceptible to bacterial contamination. Thus, rapid and sensitive identification methods are in demand for the food industry. Quantitative polymerase chain reaction (PCR) is one of the reliable specific methods with reasonably fast assay times. However, many constituents in food samples interfere with PCR, resulting in false results and thus hindering the usability of the method. Therefore, we aimed to develop an aptamer-based magnetic separation system as a sample preparation method for subsequent identification and quantification of the contaminant bacteria by real-time PCR. To achieve this goal, magnetic beads were prepared via suspension polymerization and grafted with glycidylmethacrylate (GMA) brushes that were modified into high quantities of amino groups. The magnetic beads were decorated with two different aptamer sequences binding specifically to Escherichia coli or Salmonella typhimurium. The results showed that even 1.0% milk inhibited PCR, but our magnetic affinity system capture of bacteria from 100% milk samples allowed accurate determination of bacterial contamination at less than 2.0 h with limit of detection around 100 CFU/mL for both bacteria in spiked-milk samples.

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.

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.

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. (c) 2020 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

Introduction: The Cancer Health Risk Assessments Reaching Many (CHARM) study (NCT03426878) aims to increase access to genetic testing for hereditary cancer in low-income, low-literacy, and minority populations (hereafter referred to as “underserved”). To implement the study, we have capitalized on the availability of electronic medical record (EMR) systems, developed innovative web-based tools, and designed a novel telemedicine protocol for return of clinical genetic testing results. Methods: Patients aged 18-49 years are recruited from two centers: Kaiser Permanente Northwest (KPNW; an integrated health care system in Portland, OR) and Denver Health (DH; a federally qualified health care center in Denver, CO). Specific protocols were developed to identify potentially eligible patients from the EMR and invite them to complete a web-based family history assessment. KPNW patients were recruited using email, text messaging, and in-clinic booths; DH patients were recruited via mail, phone, and provider referral. Validated risk assessment tools for Lynch syndrome (PREMM5) and heredity breast and ovarian cancer syndrome (B-RST) were adapted for our low-literacy and bilingual (English and Spanish) target population. Genetic testing is offered to patients with greater than average risk for hereditary cancer, or where risk cannot be assessed because of unknown family history or limited family structure. Eligible patients review a multipart, multimedia online consent. Those who consent to participate provide a saliva sample for clinical exome sequencing. Genetic counselors return results by telephone using traditional (usual care active comparator) or modified, communication-focused (experimental) counseling for pathogenic variants, likely pathogenic variants, and select variants of uncertain significance in 39 genes related to cancer risk, pathogenic variants in 79 genes related to medically actionable secondary findings, and 14 genes related to carrier status. Results: In the first four months of recruitment, 258 patients have completed the risk assessment tool (48% are underserved). Of those, 180 (70%) had greater than average risk of hereditary cancer (or limited family history information) and were invited to participate (53% were underserved); 86% of underserved patients and 78% of patients who do not meet criteria for the underserved category have consented. The vast majority of participants complete enrollment without assistance from study staff, and in-person visits are not required for participation. Telephone genetic test result disclosure will begin in December 2018. Conclusions: We have successfully developed online tools for cancer risk assessment that are accessible to underserved and low-literacy populations. These tools may be a cost-effective approach for improving the capture of family history data in the EMR. It does not require a provider to gather the information and the patient gets immediate feedback on results of the risk assessment and appropriate next steps. This abstract is also being presented as Poster A37. Citation Format: Heather Spencer Feigelson, Kathleen F. Mittendorf, Tia L. Kauffman, Katherine Anderson, Sonia Okuyama, Benjamin Wilfond, Gail P. Jarvik, Laura M. Amendola, Carmit McMullen, Fances Lynch, Donna Eubanks, Elizabeth Shuster, Jake Allen, Stephanie A. Kraft, Galen Joseph, Sandra Soo-Jin Lee, Katrina A.B. Goddard. Using web-based tools to assess familial cancer risk in diverse populations [abstract]. In: Proceedings of the AACR Special Conference on Modernizing Population Sciences in the Digital Age; 2019 Feb 19-22; San Diego, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2020;29(9 Suppl):Abstract nr PR02.

Introduction: The Cancer Health Risk Assessments Reaching Many (CHARM) study (NCT03426878) aims to increase access to genetic testing for hereditary cancer in low-income, low-literacy, and minority populations (hereafter referred to as “underserved”). To implement the study, we have capitalized on the availability of electronic medical record (EMR) systems, developed innovative web-based tools, and designed a novel telemedicine protocol for return of clinical genetic testing results.Methods: Patients aged 18-49 years are recruited from two centers: Kaiser Permanente Northwest (KPNW; an integrated health care system in Portland, OR) and Denver Health (DH; a federally qualified health care center in Denver, CO). Specific protocols were developed to identify potentially eligible patients from the EMR and invite them to complete a web-based family history assessment. KPNW patients were recruited using …

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.

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.