Background: Now that severe combined immune deficiency (SCID) has been added to newborn screening panels in all 50 states in the U.S., there is a need to develop and disseminate well-designed educational materials to parents who need information to make informed decisions about treatment and care for identified infants. SCID Compass was designed to address this gap. We summarize the results of two needs assessment activities for parents—a journey mapping exercise and online survey—which will inform the development of a website and new resources. Methods: We conducted in-depth interviews with seven parents of children with SCID identified through newborn screening. Participants were asked to complete a journey map to describe key timepoints related to SCID, starting at diagnosis through present day. This qualitative information informed an online survey that was completed by 76 parents who had a child with SCID. All participants were from the United States. Results: Analysis of journey maps revealed five distinct stages that parents experience: (1) Diagnosis, (2) Pre-Treatment, (3) Treatment, (4) Post-Treatment, and (5) The New Normal. At each stage, parents described unique emotions, challenges, contextual factors that can make a difference in their experience, and information and resource needs. Survey results indicated the highest-rated information needs for parents were understanding available treatment options and what to expect across the SCID lifespan. Emotional support needs included dealing with uncertainty about child's future and additional opportunities to connect with other families. Parents preferred receiving new materials from their healthcare provider or other families, and preferred materials in print, from social media, or online. Several differences were found among subgroups of parents, including those whose child had been identified through newborn screening as well as those considered medically underserved. Conclusions: Findings about unmet parent needs and informational preferences will serve as the foundation for creating a suite of resources for those who have a child with SCID. The materials will be tailored to specific stages of the journey. By using a family-centered approach, we will help to ensure that the materials designed and developed as part of SCID Compass will be understandable, comprehensive, and useful.

Although genomic sequencing presents groundbreaking newborn screening (NBS) opportunities, critical feasibility and utility questions remain. Here we present initial results from the Early Check program—an observational study assessing the feasibility and clinical utility of genomic NBS in North Carolina. Recruitment was statewide through mailed letters with electronic consent. Genome sequencing with analysis of 169 high actionability genes (plus 29 optional lower actionability genes) was performed using residual NBS dried blood spots. In 8 months, 1,979 newborns were screened, with 50 (2.5%) screen positives. Negative results were returned electronically, positive results by genetic counselors. Twenty-eight results (55%) were true positives, all received anticipatory guidance, surveillance and management recommendations, and referral to specialists as appropriate. We report technical feasibility and preliminary clinical utility finding, along with interpretation and follow-up challenges that hinder public health implementation. We propose standardized terminology to facilitate cross-study comparisons and accurate characterization of genomic NBS outcomes.

Background: Many research studies fail to enroll enough research participants. Patient-facing electronic health record applications, known as patient portals, may be used to send research invitations to eligible patients. Objective: The first aim was to determine if receipt of a patient portal research recruitment invitation was associated with enrollment in a large ongoing study of newborns (Early Check). The second aim was to determine if there were differences in opening the patient portal research recruitment invitation and study enrollment by race and ethnicity, age, or rural/urban home address. Methods: We used a computable phenotype and queried the health care system’s clinical data warehouse to identify women whose newborns would likely be eligible. Research recruitment invitations were sent through the women’s patient portals. We conducted logistic regressions to test whether women enrolled their newborns after receipt of a patient portal invitation and whether there were differences by race and ethnicity, age, and rural/urban home address. Results: Research recruitment invitations were sent to 4510 women not yet enrolled through their patient portals between November 22, 2019, through March 5, 2020. Among women who received a patient portal invitation, 3.6% (161/4510) enrolled their newborns within 27 days. The odds of enrolling among women who opened the invitation was nearly 9 times the odds of enrolling among women who did not open their invitation (SE 3.24, OR 8.86, 95% CI 4.33-18.13; P<.001). On average, it took 3.92 days for women to enroll their newborn in the study, with 64% (97/161) enrolling their newborn within 1 day of opening the invitation. There were disparities by race and urbanicity in enrollment in the study after receipt of a patient portal research invitation but not by age. Black women were less likely to enroll their newborns than White women (SE 0.09, OR 0.29, 95% CI 0.16-0.55; P<.001), and women in urban zip codes were more likely to enroll their newborns than women in rural zip codes (SE 0.97, OR 3.03, 95% CI 1.62-5.67; P=.001). Black women (SE 0.05, OR 0.67, 95% CI 0.57-0.78; P<.001) and Hispanic women (SE 0.07, OR 0.73, 95% CI 0.60-0.89; P=.002) were less likely to open the research invitation compared to White women. Conclusions: Patient portals are an effective way to recruit participants for research studies, but there are substantial racial and ethnic disparities and disparities by urban/rural status in the use of patient portals, the opening of a patient portal invitation, and enrollment in the study. Trial Registration: ClinicalTrials.gov NCT03655223; https://clinicaltrials.gov/ct2/show/NCT03655223

Objective: Electronic patient portals (PP) allow for targeted and efficient research recruitment. We assessed pre- and postnatal women’s recruitment methods preferences, focusing on PP. Materials and Methods: We conducted 4 in-person focus groups with new and expecting mothers. Participants reported demographics, health status, and comfort with technology including PP. We used descriptive statistics to characterize quantitative data and a quasi-deductive approach to analyze qualitative data. Results: Participants (n = 32) were an average age of 31.9 years, mostly White (65.6%), married (90.6%), and had a 4-year degree or higher (71.9%). Although they preferred PP for research recruitment over other methods (eg, in-person, physical mail), participants suggested potential barriers, including high message frequency, messages feeling like spam, and concerns about confidentiality. Participants suggested solutions, including enhancing autonomy through opt-in methods; integrating their healthcare provider’s feedback; sending personal and relevant messages; and assuring their PP data are confidential. Discussion: PPs are a promising recruitment method for pre- and postnatal women including for maternal-child health studies. To ensure engagement with the method, researchers must respond to known patient concerns and incorporate their feedback into future efforts. Conclusion: Although PP were generally viewed as an acceptable recruitment method, researchers should be mindful of barriers that may limit its reach and effectiveness.

Objective: The Bayley Scales of Infant and Toddler Development- 4th Edition (Bayley-4) and Vineland Adaptive Behavior Scales – 3rd Edition (Vineland-3) are outcome measures often considered as primary endpoints in clinical trials for Angelman syndrome (AS). We explored barriers encountered when administering these instruments to individuals with AS and associated guidance for their use in trials and research studies. Methods: We interviewed nine clinicians who have administered the Bayley-4 and/or the Vineland-3 to individuals with AS and analyzed their transcripts using a quasi-deductive analysis approach. Results: Barriers to administering the Bayley-4 included participant’s lack of interest, overexcitement, emotional impact on caregiver, the mental workload of administering the Bayley-4, and environmental factors (e.g., administration setting). Barriers to administering the Vineland-3 included determining the most appropriate start point, emotional impact on caregiver, distractions, conflicting answers from two caregivers, and the mental workload of administering the Vineland-3. Participants provided potential solutions to each barrier. Lastly, we identified overarching item-level concerns for both the Bayley-4 (i.e., administration challenges, items not aligned with abilities) and the Vineland-3 (i.e., misalignment of assessment criteria and condition characteristics, limitations in observation and contextual understanding, requires specialized training). Conclusion: Clinical trials often rely on the Bayley-4 and Vineland-3 assessments as outcome measures, yet our identified barriers threaten their validity. The associated solutions provide a path forward for improving administration of the Bayley-4 and Vineland-3 in clinical practice, research, and future trials focused on individuals with AS and other intellectual and developmental disabilities.