Use of a web-based portal to return normal individual research results in Early Check: Exploring user behaviors and attitudes.

Early Check is a voluntary, large-scale expanded newborn screening study in North Carolina that uses a self-directed web-based portal for return of normal individual research results (IRR). Little is known about participant perspectives in using web-based portals to receive IRR. This study explored user attitudes and behaviors within the Early Check portal using three methods: (1) a feedback survey available to the consenting parent of participating infants (typically mothers), (2) semi-structured interviews conducted with a subset of parents, and (3) Google Analytics. During an approximate 3-year period, 17 936 newborns received normal IRR and there were 27 812 visits to the portal. Most surveyed parents reported viewing their baby's results (86%, 1410/1639). Parents largely found the portal easy to use to get results, and helpful in understanding the results. However, 10% of parents said it was difficult to find enough information to understand their baby's results. In Early Check, providing normal IRR via the portal made a large-scale study practical, and was highly rated by most users. Return of normal IRR may be particularly amenable to web-based portals, as the consequences to participants from not viewing results are modest, and the interpretation of a normal result is relatively straightforward.

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.

Oncology patients' communication experiences during COVID-19: comparing telehealth consultations to in-person visits.

PURPOSE: The COVID-19 pandemic created significant disruptions in cancer care, much of which was transitioned to telehealth. Because telehealth alters the way clinicians and patients interact with one another, this investigation examined patients' perceptions of their communication with clinicians during the pandemic. METHOD: Patients were recruited from the Cancer Support Community, Fight Colorectal Cancer, and a market research firm to participate in an online survey. In addition to demographic and health-related information, respondents completed measures of patient-centered communication and evaluated how their communication in telehealth sessions compared with in-person visits. RESULTS: From October to December 2020, 227 respondents (65.6% female, 64.6% Non-Hispanic White, 33.5% had 6 or more telehealth sessions, 55% were 50 or older) reported having some of their cancer care provided via telehealth. Respondents who were of racial/ethnic minorities, male, had more telehealth sessions, or had poorer mental health reported less patient-centered communication with clinicians. Most patients thought communication in telehealth sessions was "about the same" as in-person visits with respect to good communication (59%). However, patients thinking communication in telehealth sessions was "better" than in-person visits were more likely to be Hispanic (49%), Non-Hispanic Black (41%), under 50 years of age (32%), male (40%), and had more telehealth sessions (34%). CONCLUSION: Respondents reporting less patient-centered communication during the pandemic-e.g., persons of racial/ethnic minorities and males-were also more likely to evaluate communication in telehealth sessions as better than in-person visits. Further research is needed to understand reasons underlying this finding. Cancer care clinicians should take into account patient preferences regarding telehealth care, which may be particularly important for racial and ethnic minority patients.

Preferences for Accessing Electronic Health Records for Research Purposes: Views of Parents Who Have a Child With a Known or Suspected Genetic Condition.

OBJECTIVES: The purpose of this study was to examine parental preferences for researchers accessing their child's electronic health record across 3 groups: those with a child with (1) a known genetic condition (fragile X syndrome FXS), (2) a suspected genetic condition (autism spectrum disorder [ASD]), and (3) no known genetic condition (typically developing). METHODS: After extensive formative work, a discrete choice experiment was designed consisting of 5 attributes, each with 2 or 3 levels, including (1) type of researcher, (2) the use of personally identifiable information, (3) the use of sensitive information, (4) personal importance of research, and (5) return of results. Stratified mixed logit and latent class conditional logit models were examined. RESULTS: Parents of children with FXS or ASD had relatively higher preferences for research conducted by nonprofits than parents of typically developing children. Parents of children with ASD also preferred research using non-identifiable and nonsensitive information. Parents of children with FXS or ASD also had preferences for research that was personally important and returned either summary or individual results. Although a few child and family characteristics were related to preferences, they did not overall define the subgroups of parents. CONCLUSIONS: Although electronic health record preference research has been conducted with the general public, this is the first study to examine the opinions of parents who have a child with a known or suspected genetic condition. These parents were open to studies using their child's electronic health record because they may have more to gain from this type of research.

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.

Ethical, Legal, and Social Issues Related to the Inclusion of Individuals With Intellectual Disabilities in Electronic Health Record Research: Scoping Review.

BACKGROUND: Data from electronic health records (EHRs) are increasingly used in the field of genetic research to further precision medicine initiatives. However, many of these efforts exclude individuals with intellectual disabilities, which often stem from genetic conditions. To include this important subpopulation in EHR research, important ethical, legal, and social issues should be considered. OBJECTIVE: The goal of this study was to review prior research to better understand what ethical, legal, and social issues may need further investigation when considering the research use of EHRs for individuals with genetic conditions that may result in intellectual disability. This information will be valuable in developing methods and best practices for involving this group in research given they are considered a vulnerable population that may need special research protections. METHODS: We conducted a scoping review to examine issues related to the use of EHRs for research purposes and those more broadly associated with genetic research. The initial search yielded a total of 460 unique citations. We used an evaluative coding process to determine relevancy for inclusion. RESULTS: This approach resulted in 59 articles in the following areas: informed consent, privacy and security, return of results, and vulnerable populations. The review included several models of garnering informed consent in EHR or genetic research, including tiered or categorical, blanket or general, open, and opt-out models. Second, studies reported on patients' concerns regarding the privacy and security of EHR or genetic data, such as who has access, type of data use in research, identifiability, and risks associated with privacy breach. The literature on return of research results using biospecimens examined the dissension in the field, particularly when sharing individualized genetic results. Finally, work involving vulnerable populations highlighted special considerations when conducting EHR or genetic research. CONCLUSIONS: The results frame important questions for researchers to consider when designing EHR studies, which include individuals with intellectual disabilities, including appropriate safeguards and protections.

Early Check: translational science at the intersection of public health and newborn screening.

BACKGROUND: Newborn screening (NBS) occupies a unique space at the intersection of translational science and public health. As the only truly population-based public health program in the United States, NBS offers the promise of making the successes of translational medicine available to every infant with a rare disorder that is difficult to diagnose clinically, but for which strong evidence indicates that presymptomatic treatment will substantially improve outcomes. Realistic NBS policy requires data, but rare disorders face a special challenge: Screening cannot be done without supportive data, but adequate data cannot be collected in the absence of large-scale screening. The magnitude and scale of research to provide this expanse of data require working with public health programs, but most do not have the resources or mandate to conduct research. METHODS: To address this gap, we have established Early Check, a research program in partnership with a state NBS program. Early Check provides the infrastructure needed to identify conditions for which there have been significant advances in treatment potential, but require a large-scale, population-based study to test benefits and risks, demonstrate feasibility, and inform NBS policy. DISCUSSION: Our goal is to prove the benefits of a program that can, when compared with current models, accelerate understanding of diseases and treatments, reduce the time needed to consider inclusion of appropriate conditions in the standard NBS panel, and accelerate future research on new NBS conditions, including clinical trials for investigational interventions. TRIAL REGISTRATION: Clinicaltrials.gov registration # NCT03655223 . Registered on August 31, 2018.

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.

Program Implementation Approaches to Build and Sustain Health Care Coordination for Type 2 Diabetes.

BACKGROUND: As more people enter the U.S. health care system under the Affordable Care Act (ACA), it is increasingly critical to deliver coordinated, high-quality health care. The ACA supports implementation and sustainability of efficient health care models, given expected limits in available resources. This article highlights implementation strategies to build and sustain care coordination, particularly ones consistent with and reinforced by the ACA. It focuses on disease self-management programs to improve the health of patients with type 2 diabetes, exemplified by grantees of the Alliance to Reduce Disparities in Diabetes. METHOD: We conducted interviews with grantee program representatives throughout their 5-year programs and conducted a qualitative framework analysis of data to identify key themes related to care coordination. RESULTS: The most promising care coordination strategies that grantee programs described included establishing clinic-community collaborations, embedding community health workers within care management teams, and sharing electronic data. Establishing provider buy-in was crucial for these strategies to be effective. DISCUSSION: This article adds new insights into strategies promoting effective care coordination. The strategies that grantees implemented throughout the program align with ACA requirements, underscoring their relevance to the changing U.S. health care environment and the likelihood of further support for program sustainability.

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.

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.

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.

Women's knowledge, attitudes, and beliefs about Down syndrome: a qualitative research study.

Women who are or may become pregnant need up-to-date information about Down syndrome (DS). Asking women about their knowledge, opinions, resources, and information needs on the topic of DS is an important precursor to develop effective strategies for education. We conducted 24 focus groups (N = 111) in two US cities with women who were recently pregnant (who had a child ≤ 3 years old without DS) and women who planned to have a child in the next year. Groups were further segmented by age and race-ethnicity. Questions explored women's knowledge, attitudes, and beliefs about DS; resources used to obtain information about health and DS; and information needs on the topic of DS. All participants reported having some knowledge of DS: facial features, chromosomal condition, and maternal age as a risk factor. Many participants had misconceptions, including the life expectancy for persons with DS, other maternal and paternal risk factors, and the idea that having a child with DS would disrupt their lives. Participants requested stories to help illustrate what life is like for families with DS. Many Hispanic and African American participants said they only saw or knew of Caucasian persons with DS and requested culturally diverse educational materials about DS. Participants said they would seek information on DS from the Internet and from their health care providers. Results suggest that women need tailored materials that contain clinical information about DS as well as information about living with a child with DS. Published 2012. This article is a U.S. Government work and is in the public domain in the USA.

Managing uncertainty and responding to difficult emotions: Cancer patients' perspectives on clinician response during the COVID-19 pandemic.

OBJECTIVE: Patients undergoing cancer treatment during the COVID-19 pandemic have experienced stress and uncertainty with respect to disruptions in cancer care and COVID-19 related risks. We examined whether clinicians' responsiveness to patients' uncertainty and difficult emotions were associated with better health and well-being. METHODS: Patients were recruited from cancer support communities and a market research firm. Respondents assessed clinicians communication that addressed uncertainty and difficult emotions. Health status measures included mental and physical health, coping during the pandemic, and psychological distress. RESULTS: 317 respondents participated in the study. Patients' perceptions of their clinicians responsiveness to patient uncertainty and negative emotions were associated with better mental health, physical health, coping, and less psychological distress (all p-values <0.001). Respondents with greater self-efficacy and social support also reported better health. CONCLUSION: Even when controlling for patients' personal and health-related characteristics, clinicians' communication addressing patients' uncertainty and difficult emotions predicted better health, better coping, and less psychological distress. Access to social support and self-efficacy also were associated with better health status. PRACTICE IMPLICATIONS: Clinicians' communication focused on helping with uncertainty and difficult emotions is important to cancer patients, especially during the pandemic. Clinicians should also direct patients to resources for social support and patient empowerment.

Patients' Experiences with Cancer Care: Impact of the COVID-19 Pandemic.

The COVID-19 pandemic heightened the psychosocial impact of a cancer diagnosis as patients face concerns about the risk of infection and serious disease and uncertainties about the impact on their treatment. We conducted an online survey (n = 317) and focus groups (n = 19) with patients to examine their experiences with cancer care during the pandemic. Most survey respondents (68%) reported one or more disruptions or delays in care, including appointments switched to telehealth (49%). Patients perceived both benefits (e.g., convenience) and drawbacks (e.g., more impersonal) to telehealth. For many patients, COVID-19-related restrictions on bringing family members to support them during appointments was a major concern and left them feeling alone and vulnerable during treatment. Patients' self-reported coping during the pandemic was positively associated with age, education, and income (P < .05 for each) and better communication with their doctors during telehealth sessions (P < .001). Study findings highlight the importance of patient-centered care and communication to help patients cope with the challenges of the pandemic. Further research is needed to develop guidelines for use of telehealth as part of patient-centered cancer care.

Education and Consent for Population-Based DNA Screening: A Mixed-Methods Evaluation of the Early Check Newborn Screening Pilot Study.

A challenge in implementing population-based DNA screening is providing sufficient information, that is, understandable and acceptable, and that supports informed decision making. Early Check is an expanded newborn screening study offered to mothers/guardians whose infants have standard newborn screening in North Carolina. We developed electronic education and consent to meet the objectives of feasibility, acceptability, trustworthiness, and supporting informed decisions. We used two methods to evaluate Early Check among mothers of participating infants who received normal results: an online survey and interviews conducted via telephone. Survey and interview domains included motivations for enrollment, acceptability of materials and processes, attitudes toward screening, knowledge recall, and trust. Quantitative analyses included descriptive statistics and assessment of factors associated with knowledge recall and trust. Qualitative data were coded, and an inductive approach was used to identify themes across interviews. Survey respondents (n = 1,823) rated the following as the most important reasons for enrolling their infants: finding out if the baby has the conditions screened (43.0%), and that no additional blood samples were required (20.1%). Interview respondents (n = 24) reported the value of early knowledge, early intervention, and ease of participation as motivators. Survey respondents rated the study information as having high utility for decision making (mean 4.7 to 4.8 out of 5) and 98.2% agreed that they had sufficient information. Knowledge recall was relatively high (71.8-92.5% correct), as was trust in Early Check information (96.2% strongly agree/agree). Attitudes about Early Check screening were positive (mean 0.1 to 0.6 on a scale of 0-4, with lower scores indicating more positive attitudes) and participants did not regret participation (e.g., 98.6% strongly agreed/agreed Early Check was the right decision). Interview respondents further reported positive attitudes about Early Check materials and processes. Early Check provides a model for education and consent in large-scale DNA screening. We found evidence of high acceptability, trustworthiness and knowledge recall, and positive attitudes among respondents. Population-targeted programs need to uphold practices that result in accessible information for those from diverse backgrounds. Additional research on those who do not select screening, although ethically and practically challenging, is important to inform population-based DNA screening practices.

Barriers and Facilitators to Genetic Service Delivery Models: Scoping Review.

BACKGROUND: Advances in diagnostics testing and treatment of genetic conditions have led to increased demand for genetic services in the United States. At the same time, there is a shortage of genetic services professionals. Thus, understanding the models of service delivery currently in use can help increase access and improve outcomes for individuals identified with genetic conditions. OBJECTIVE: This review aims to provide an overview of barriers and facilitators to genetic service delivery models to inform future service delivery. METHODS: We conducted a scoping literature review of the evidence to more fully understand barriers and facilitators around the provision of genetic services. RESULTS: There were a number of challenges identified, including the limited number of genetics specialists, wait time for appointments, delivery of services by nongenetics providers, reimbursement, and licensure. The ways to address these challenges include the use of health information technology such as telehealth, group genetic counseling, provider-to-provider education, partnership models, and training; expanding genetic provider types; and embedding genetic counselors in clinical settings. CONCLUSIONS: The literature review highlighted the need to expand access to genetic services. Ways to expand services include telehealth, technical assistance, and changing staffing models. In addition, using technology to improve knowledge among related professionals can help expand access.

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.

Preferences for the research use of electronic health records among young adults with fragile X syndrome or autism spectrum disorder.

BACKGROUND: Health researchers are increasingly using electronic health records (EHRs) to study the health care needs of people with neurodevelopmental disorders (NDDs). However, little is known about the preferences of people with NDDs for sharing EHRs for research. OBJECTIVE: To explore preferences for sharing EHRs for research among young adults ages 18-40 who make their own legal decisions and who have autism spectrum disorder (ASD), fragile X syndrome (FXS), or no NDDs. METHODS: We conducted a qualitative study with seven focus groups: 2 ASD groups, 3 FXS groups, and 2 no-NDD groups. We asked participants about factors that could affect their willingness to share their EHRs for research: type of organization, type of information, study purpose, duration, contact frequency, return of results, benefits, and risks. We analyzed the qualitative data using directed content analysis. RESULTS: Participants with NDDs valued personally relevant and directly beneficial EHR research. Participants with NDDs expressed willingness to share sensitive data if the study was personally relevant. Most participants wanted to receive results, but only participants with FXS indicated it would affect their willingness to participate. Participants were concerned about privacy risks, discrimination, researcher misconduct, and financial conflicts of interest. CONCLUSION: This study provides initial evidence suggesting that young adults with NDDs prefer EHR research that is personally relevant, benefits themselves and their communities, and is conducted in the context of trusting, reciprocal participant-researcher relationships. The findings point to the need for researchers to improve the informed consent process and to better engage individuals with NDDs in research.