Misunderstood terms and concepts identified through user testing of educational materials for fragile X premutation: "Not weak or fragile?"

Complicated genetic mechanisms and unpredictable health risks associated with the FMR1 premutation can result in challenges for patient education when the diagnosis is made in a newborn. From October 15, 2018, to December 10, 2021, North Carolina parents could obtain FMR1 premutation results about their newborns through a voluntary expanded newborn screening research study. The study provided confirmatory testing, parental testing, and genetic counseling. We developed web-based educational materials to augment information about fragile X premutation conveyed by a genetic counselor. Many genetics education materials are developed for the lay population. However, relatively little research is published on how well individuals understand these materials. We conducted three rounds of iterative user testing interviews to help refine web-based educational materials that support understanding and self-paced learning. The participants included 25 parents with a 2-year college degree or less and without a child identified with fragile X syndrome, premutation, or gray-zone allele. Content analysis of interview transcripts resulted in iterative changes and ultimately saturation of findings. Across all rounds of interviews, there were two terms that were commonly misunderstood (fragile and carrier) and two terms that elicited initial misconceptions that were overcome by participants. Many also had difficulty understanding the relationship between fragile X premutation and fragile X syndrome as well as appreciating the implications of having a "fragile X gene." Website layout, formatting, and graphics also influenced comprehension. Despite iterative changes to the content, certain issues with understandability persisted. The findings support the need for user testing to identify misconceptions that may interfere with understanding and using genetic information. Here, we describe a process used to develop and refine evidence-based, understandable parental resources on fragile X premutation. Additionally, we provide recommendations to address ongoing educational challenges and discuss the potential impact of bias on the part of expert content developers.

Outreach to new mothers through direct mail and email: recruitment in the Early Check research study.

Meeting recruitment targets for clinical trials and health research studies is a notable challenge. Unsuccessful efforts to recruit participants from traditionally underserved populations can limit who benefits from scientific discovery, thus perpetuating inequities in health outcomes and access to care. In this study, we evaluated direct mail and email outreach campaigns designed to recruit women who gave birth in North Carolina for a statewide research study offering expanded newborn screening for a panel of rare health conditions. Of the 54,887 women who gave birth in North Carolina from September 28, 2018, through March 19, 2019, and were eligible to be included on the study's contact lists, we had access to a mailing address for 97.9% and an email address for 6.3%. Rural women were less likely to have sufficient contact information available, but this amounted to less than a one percentage point difference by urbanicity. Native American women were less likely to have an email address on record; however, we did not find a similar disparity when recruitment using direct-mail letters and postcards was concerned. Although we sent letters and emails in roughly equal proportion by urbanicity and race/ethnicity, we found significant differences in enrollment across demographic subgroups. Controlling for race/ethnicity and urbanicity, we found that direct-mail letters and emails were effective recruitment methods. The enrollment rate among women who were sent a recruitment letter was 4.1%, and this rate increased to 5.0% among women who were also sent an email invitation. Study Highlights WHAT IS THE CURRENT KNOWLEDGE ON THE TOPIC? Under-representation by traditionally underserved populations in clinical trials and health research is a challenge that may in part reflect inequitable opportunities to participate. WHAT QUESTION DID THIS STUDY ADDRESS? Are direct-mail and email outreach strategies effective for reaching and recruiting women from traditionally underserved and rural populations to participate in large-scale, population-based research? WHAT DOES THIS STUDY ADD TO OUR KNOWLEDGE? Despite sending recruitment letters and email invitations in roughly equal proportion by urbanicity and race/ethnicity, women living in rural areas were less likely to enroll (2.8%) than women from urban areas (4.2%). Additionally, enrollment rates decreased as the probability that women were members of a racial or ethnic minority group increased. HOW MIGHT THIS CHANGE CLINICAL PHARMACOLOGY OR TRANSLATIONAL SCIENCE? Results from this study might encourage researchers to take a holistic and participant-centered view of barriers to study enrollment that may disproportionately affect underserved communities, including differences in willingness to participate, trust, and access to resources needed for uptake.

Parental Views on Newborn Next Generation Sequencing: Implications for Decision Support.

OBJECTIVE: This study aimed to understand parental decisions, perspectives, values, and beliefs on next generation sequencing in the newborn period (NGS-NBS) to inform the development of a decision aid to support parental decision making in the North Carolina Newborn Exome Sequencing for Universal Screening study. METHODS: We conducted dyadic interviews with 66 current or expectant parents (33 couples) to understand overall decisions about NGS-NBS and reasons for and against learning NGS-NBS results differing by age of onset and medical actionability. Audio recordings were transcribed, coded, and analyzed using qualitative framework analyses. RESULTS: Favorable views of NGS-NBS included benefits of early intervention, preparedness, child autonomy, and altruism. Unfavorable views were the potential negative effects from early intervention, psychosocial harm, and religious beliefs. Parents universally reported quality of life as important. CONCLUSION: Interviews elucidated what is important in deciding to have NGS-NBS. Understanding parental perspectives, values, and beliefs and integrating evidence-based findings into a parent-centric decision aid provides value and support in making decisions related to NGS-NBS, where there is no clear course of action.

A Digital Decision Support Tool to Enhance Decisional Capacity for Clinical Trial Consent: Design and Development.

BACKGROUND: Challenges in the clinical and research consent process indicate the need to develop tailored, supportive interventions for all individuals, especially those with limited decisional capacity. We developed a tool to enhance shared decision making and the decisional capacity for individuals with fragile X syndrome engaged in the informed consent process for a clinical trial. OBJECTIVE: We describe the design and development process of a tablet-based decision support tool. METHODS: Our development process for the decision support tool employed a user-centered, feature-driven design approach. We began with an environmental scan to catalog relevant mobile apps, and we conducted interviews with people with a diagnosis of fragile X syndrome and clinicians at fragile X syndrome clinics. To develop content for the decision support tool, we extracted key concepts and elements from a real clinical trial consent form and rewrote it using plain-language principles. RESULTS: We used iterative testing to continuously evaluate and revise the decision support tool content. The tool was finalized in 2016 and contained a series of vignettes, quiz questions, and a sorting activity. A randomized controlled trial was then conducted to compare the efficacy of the decision support tool with a standard verbal presentation of material that mimicked typical informed consent practice. CONCLUSIONS: The informed consent process is primed to leverage digital health resources that promote increased understanding and engagement of research participants in the consent and research process. The process and experiences we describe may provide a model for other digital health design and development initiatives seeking to create more interactive and accessible decision support resources. TRIAL REGISTRATION: ClinicalTrials.gov NCT02465931; https://www.clinicaltrials.gov/ct2/show/NCT02465931 (Archived by WebCite at http://www.webcitation.org/6zx2KY9YW).

An Evidence-Based, Community-Engaged Approach to Develop an Interactive Deliberation Tool for Pediatric Neuromuscular Trials.

Duchenne/Becker muscular dystrophy (DBMD) and spinal muscular atrophy (SMA) are rare neuromuscular disorders that present challenges to therapeutic and clinical trial decision making. We developed an interactive, evidence-based online tool designed to encourage thoughtful deliberation of the pros and cons of trial participation and to inform meaningful discussions with healthcare providers. Prior research demonstrates the importance of tool availability at the time each family is considering trial participation, which may be prior to the informed consent process. The tool is intended to be easily modified to other pediatric disease communities. Tool development was informed by prior qualitative research, literature reviews, and stakeholder input. Specific items were derived based on an online exploratory questionnaire of parents whose children participated in a trial for DBMD or SMA to understand motivations for participation. Parent participants in the exploratory survey reported strong impact of altruistic and individual benefit motivations and placed much greater emphasis on anticipated trial benefits than on harms when making participation decisions. We used this data to develop the evidence-based deliberation tool using a community-engaged approach. We initially targeted the tool for DBMD while using SMA survey data to evaluate ease of transition to that population. We conducted two iterative sets of activities to inform development and refinement of the tool: (1) community engagement of key stakeholders and (2) user experience testing. These activities suggest that the tool may increase deliberation and the weighing of benefits and harms. Ongoing evaluation will determine the acceptability and efficacy of this online intervention.

Virtual Versus In-Person Focus Groups: Comparison of Costs, Recruitment, and Participant Logistics.

BACKGROUND: Virtual focus groups-such as online chat and video groups-are increasingly promoted as qualitative research tools. Theoretically, virtual groups offer several advantages, including lower cost, faster recruitment, greater geographic diversity, enrollment of hard-to-reach populations, and reduced participant burden. However, no study has compared virtual and in-person focus groups on these metrics. OBJECTIVE: To rigorously compare virtual and in-person focus groups on cost, recruitment, and participant logistics. We examined 3 focus group modes and instituted experimental controls to ensure a fair comparison. METHODS: We conducted 6 1-hour focus groups in August 2014 using in-person (n=2), live chat (n=2), and video (n=2) modes with individuals who had type 2 diabetes (n=48 enrolled, n=39 completed). In planning groups, we solicited bids from 6 virtual platform vendors and 4 recruitment firms. We then selected 1 platform or facility per mode and a single recruitment firm across all modes. To minimize bias, the recruitment firm employed different recruiters by mode who were blinded to recruitment efforts for other modes. We tracked enrollment during a 2-week period. A single moderator conducted all groups using the same guide, which addressed the use of technology to communicate with health care providers. We conducted the groups at the same times of day on Monday to Wednesday during a single week. At the end of each group, participants completed a short survey. RESULTS: Virtual focus groups offered minimal cost savings compared with in-person groups (US $2000 per chat group vs US $2576 per in-person group vs US $2,750 per video group). Although virtual groups did not incur travel costs, they often had higher management fees and miscellaneous expenses (eg, participant webcams). Recruitment timing did not differ by mode, but show rates were higher for in-person groups (94% [15/16] in-person vs 81% [13/16] video vs 69% [11/16] chat). Virtual group participants were more geographically diverse (but with significant clustering around major metropolitan areas) and more likely to be non-white, less educated, and less healthy. Internet usage was higher among virtual group participants, yet virtual groups still reached light Internet users. In terms of burden, chat groups were easiest to join and required the least preparation (chat = 13 minutes, video = 40 minutes, in-person = 78 minutes). Virtual group participants joined using laptop or desktop computers, and most virtual participants (82% [9/11] chat vs 62% [8/13] video) reported having no other people in their immediate vicinity. CONCLUSIONS: Virtual focus groups offer potential advantages for participant diversity and reaching less healthy populations. However, virtual groups do not appear to cost less or recruit participants faster than in-person groups. Further research on virtual group data quality and group dynamics is needed to fully understand their advantages and limitations.

Engaging Patient Advocates and Other Stakeholders to Design Measures of Patient-Centered Communication in Cancer Care.

BACKGROUND: Patient-centered communication (PCC) is an essential component of patient-centered care and contributes to patient satisfaction, health-related quality of life, and other important patient outcomes. OBJECTIVE: The aim of this study was to develop and test survey questions to assess patients' experiences with PCC in cancer care. METHODS: We used a conceptual model developed by the National Cancer Institute as our framework. The survey questions align with the six core functions of PCC defined in the model: Exchanging Information, Managing Uncertainty, Enabling Patient Self-Management, Fostering Healing Relationships, Making Decisions, and Responding to Emotions. The study focused on colorectal cancer patients. We conducted two rounds of cognitive interviewing to evaluate patients' ability to understand and provide valid answers to the PCC questions. Interviews were conducted in Maryland and North Carolina in 2014. We involved a patient advocacy group, Fight Colorectal Cancer, and a multidisciplinary panel of stakeholders throughout the measurement development process to ensure that the survey questions capture aspects of PCC that are important to patients and meet the needs of potential end users, including researchers, healthcare organizations, and health professionals. RESULTS: Patient and other stakeholder input informed revisions of draft survey questions, including changes to survey instructions, frame of reference for questions, response scales, and language. CONCLUSION: This study demonstrated the feasibility and value of engaging patients and other stakeholders in a measurement development study. The Patient-Centered Outcomes Research Institute (PCORI) conceptual model of patient-centered outcomes research provides a useful guide for patient engagement in research. Research funders should call for meaningful roles for patients and other stakeholders in health research, including in the development of patient-centered outcomes.

Peer-Generated Health Information: The Role of Online Communities in Patient and Caregiver Health Decisions.

Individuals increasingly access peer-generated health information (PGHI) through social media, especially online health communities (OHCs). Previous research has documented PGHI topics, credibility assessment strategies, and PGHI's connection with well-being. However, there is limited evidence on where, when, and why individuals seek PGHI and how they use PGHI in health decisions. We conducted in-person and online focus groups with verified OHC members (N = 89)-representing 50 different medical conditions and 77 OHCs-to explore these topics. Two researchers independently coded transcripts with NVivo 9.2 and thematically analyzed responses. Most individuals accidentally discovered PGHI during Web searches rather than intentionally seeking it. Individuals valued PGHI primarily as an alternative information source about treatment options, self-care activities, and health care provider questions rather than a source of emotional support, and they acknowledged PGHI's limitation as anecdotal evidence. Individuals used PGHI as a springboard for additional research and patient-provider discussions, ultimately making treatment decisions alongside providers. These findings suggest that individuals use PGHI in much the same way they use traditional online health information and that PGHI facilitates, rather than obstructs, shared decision making with health care providers.

A Review on Spinal Muscular Atrophy: Awareness, Knowledge, and Attitudes.

Spinal Muscular Atrophy (SMA) is one of the most common genetic causes of infant death. There is presently no cure, but the therapeutic pipeline is promising. Given the prevalence of SMA coupled with the potential for new treatment options, universal carrier screening, and newborn screening, we conducted a literature review of the awareness, knowledge, and attitudes held by the public and non-geneticist clinicians about various aspects of SMA. We then identify recommendations for targeting additional research, training, and educational efforts to increase awareness. In the limited available literature, we found that the public is generally unfamiliar with SMA but has favorable views of carrier and newborn screening. Clinicians also had limited understanding of SMA. Further research into knowledge and attitudes of healthcare providers and the general public will help develop a better understanding of education gaps and inform outreach efforts. These educational efforts are needed to complement the momentum as treatments are being developed and tested. Furthermore, professional societies are proposing routine carrier screening and SMA may achieve newborn screening status, which will change the SMA landscape for genetics professionals and families. Thus, it is important to explore knowledge and attitudes about SMA to allow us to prepare for when SMA attains higher public and clinician recognition.

Visual presentations of efficacy data in direct-to-consumer prescription drug print and television advertisements: A randomized study.

OBJECTIVE: To determine whether visual aids help people recall quantitative efficacy information in direct-to-consumer (DTC) prescription drug advertisements, and if so, which types of visual aids are most helpful. METHODS: Individuals diagnosed with high cholesterol (n=2504) were randomized to view a fictional DTC print or television advertisement with no visual aid or one of four visual aids (pie chart, bar chart, table, or pictograph) depicting drug efficacy. We measured drug efficacy and risk recall, drug perceptions and attitudes, and behavioral intentions. RESULTS: For print advertisements, a bar chart or table, compared with no visual aid, elicited more accurate drug efficacy recall. The bar chart was better at this than the pictograph and the table was better than the pie chart. For television advertisements, any visual aid, compared with no visual aid, elicited more accurate drug efficacy recall. The bar chart was better at this than the pictograph or the table. CONCLUSION: Visual aids depicting quantitative efficacy information in DTC print and television advertisements increased drug efficacy recall, which may help people make informed decisions about prescription drugs. PRACTICE IMPLICATIONS: Adding visual aids to DTC advertising may increase the public's knowledge of how well prescription drugs work.

Improving the implementation of diabetes self-management: findings from the Alliance to Reduce Disparities in Diabetes.

To enhance the health and well-being of patients managing type 2 diabetes, the five grantees comprising the Alliance to Reduce Disparities in Diabetes implemented evidence-based approaches to patient self-management education as part of their programs. This article describes strategies implemented by the grantees that may help explain program success, defined as improvement in clinical values and patient-reported outcomes. A process evaluation of grantee programs included interviews and document review at the beginning, midpoint, and end of the Alliance initiative. A total of 97 interviews were conducted over time with 65 program representatives. The Alliance programs served 2,328 people from diverse racial and ethnic backgrounds and provided 36,826 diabetes self-management sessions across the intervention sites. Framework analysis of the interviews identified four key themes that emerged across time and program sites that may help account for program success: empowerment, increasing access and support, addressing local needs and barriers, and care coordination. The overall evaluation findings may help other diabetes self-management programs seeking to translate and implement evidence-based approaches to reduce disparities and enhance patient well-being.

Perceived healthcare provider reactions to patient and caregiver use of online health communities.

OBJECTIVE: Many Internet users seek health information through online health communities (OHCs) and other social media. Yet few studies assess how individuals use peer-generated health information, and many healthcare providers (HCPs) believe OHCs interfere with patient-provider relationships. This study explored how individuals use OHC content in clinical discussions and how HCPs react to it. METHODS: We conducted in-person and virtual focus groups with patients/caregivers who visited OHCs (n=89). A trained moderator asked about reasons for membership, sharing OHC content with providers, HCP reactions, and preferred roles for HCPs. Two researchers independently coded verbatim transcripts (NVivo 9.2) and conducted thematic response analysis. RESULTS: Participants described OHCs as supplementing information from HCPs, whom they perceived as too busy for detailed discussions. Almost all participants shared OHC content with HCPs, although only half cited OHCs as the source. Most HCPs reacted negatively to OHC content, making participants feel disempowered. Despite these reactions, participants continued to use OHCs, and most desired HCP feedback on the accuracy of OHC content. CONCLUSIONS: Individuals do not use OHCs to circumvent HCPs but instead to gather more in-depth information. PRACTICE IMPLICATIONS: HCPs should discuss OHC content with patients to help them avoid misinformation and make more informed decisions.

Presenting efficacy information in direct-to-consumer prescription drug advertisements.

OBJECTIVE: We evaluated whether presenting prescription drug efficacy information in direct-to-consumer (DTC) advertising helps individuals accurately report a drug's benefits and, if so, which numerical format is most helpful. METHODS: We conducted a randomized, controlled study of individuals diagnosed with high cholesterol (n=2807) who viewed fictitious prescription drug print or television ads containing either no drug efficacy information or efficacy information in one of five numerical formats. We measured drug efficacy recall, drug perceptions and attitudes, behavioral intentions, and drug risk recall. RESULTS: Individuals who viewed absolute frequency and/or percentage information more accurately reported drug efficacy than participants who viewed no efficacy information. Participants who viewed relative frequency information generally reported drug efficacy less accurately than participants who viewed other numerical formats. CONCLUSION: Adding efficacy information to DTC ads-both in print and on television-may potentially increase an individual's knowledge of a drug's efficacy, which may improve patient-provider communication and promote more informed decisions. PRACTICE IMPLICATIONS: Providing quantitative efficacy information in a combination of formats (e.g., absolute frequency and percent) may help patients remember information and make decisions about prescription drugs.