The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing.

BACKGROUND: The COVID-19 pandemic forced healthcare institutions and many clinical research programs to adopt telehealth modalities in order to mitigate viral spread. With the expanded use of telehealth, there is the potential to increase access to genomic medicine to medically underserved populations, yet little is known about how best to communicate genomic results via telehealth while also ensuring equitable access. NYCKidSeq, a multi-institutional clinical genomics research program in New York City, launched the TeleKidSeq pilot study to assess alternative forms of genomic communication and telehealth service delivery models with families from medically underserved populations. METHODS: We aim to enroll 496 participants between 0 and 21 years old to receive clinical genome sequencing. These individuals have a neurologic, cardiovascular, and/or immunologic disease. Participants will be English- or Spanish-speaking and predominantly from underrepresented groups who receive care in the New York metropolitan area. Prior to enrollment, participants will be randomized to either genetic counseling via videoconferencing with screen-sharing or genetic counseling via videoconferencing without screen-sharing. Using surveys administered at baseline, results disclosure, and 6-months post-results disclosure, we will evaluate the impact of the use of screen-sharing on participant understanding, satisfaction, and uptake of medical recommendations, as well as the psychological and socioeconomic implications of obtaining genome sequencing. Clinical utility, cost, and diagnostic yield of genome sequencing will also be assessed. DISCUSSION: The TeleKidSeq pilot study will contribute to innovations in communicating genomic test results to diverse populations through telehealth technology. In conjunction with NYCKidSeq, this work will inform best practices for the implementation of genomic medicine in diverse, English- and Spanish-speaking populations.

The Contribution of Meteorological Parameters and the COVID-19 Partial Lockdown on Air Quality in Rio de Janeiro, Brazil

This study evaluated the pollutant levels (NO2, SO2, CO, and O-3), air quality index (AQI) and the influence of meteorological variables and coronavirus disease (COVID-19) pandemic on the air quality in Rio de Janeiro. The data set used comprises periods before (March-April, 2019) and during pandemic (March-April, 2020). According to the AQI results, on most days, the air quality was ranked as "good". Brazilian air quality standards for SO2, O-3, and NO2 were not exceeded in any of the monitoring stations during partial lockdown, while CO exceeded in all periods in one site due to industrial emission. Comparing both periods, descriptive statistics for the meteorological parameters presented no differences, which suggests similar conditions. However, when evaluated week by week in 2020, weather conditions presented some differences that probably affected pollutant concentrations. The correlations between O-3 and NO2 and some meteorological parameters indicate that variations in both favored ozone formation, since it is a photochemical process favored by temperature and solar radiation and that, in Rio de Janeiro, low NO2 concentrations lead to increased O-3. The improvements on air quality during the partial lockdown may be attributed mainly to a reduction on emission sources rather than weather conditions.

Design and rationale of GUARDD-US: A pragmatic, randomized trial of genetic testing for APOL1 and pharmacogenomic predictors of antihypertensive efficacy in patients with hypertension.

RATIONALE AND OBJECTIVE: APOL1 risk alleles are associated with increased cardiovascular and chronic kidney disease (CKD) risk. It is unknown whether knowledge of APOL1 risk status motivates patients and providers to attain recommended blood pressure (BP) targets to reduce cardiovascular disease. STUDY DESIGN: Multicenter, pragmatic, randomized controlled clinical trial. SETTING AND PARTICIPANTS: 6650 individuals with African ancestry and hypertension from 13 health systems. INTERVENTION: APOL1 genotyping with clinical decision support (CDS) results are returned to participants and providers immediately (intervention) or at 6 months (control). A subset of participants are re-randomized to pharmacogenomic testing for relevant antihypertensive medications (pharmacogenomic sub-study). CDS alerts encourage appropriate CKD screening and antihypertensive agent use. OUTCOMES: Blood pressure and surveys are assessed at baseline, 3 and 6 months. The primary outcome is change in systolic BP from enrollment to 3 months in individuals with two APOL1 risk alleles. Secondary outcomes include new diagnoses of CKD, systolic blood pressure at 6 months, diastolic BP, and survey results. The pharmacogenomic sub-study will evaluate the relationship of pharmacogenomic genotype and change in systolic BP between baseline and 3 months. RESULTS: To date, the trial has enrolled 3423 participants. CONCLUSIONS: The effect of patient and provider knowledge of APOL1 genotype on systolic blood pressure has not been well-studied. GUARDD-US addresses whether blood pressure improves when patients and providers have this information. GUARDD-US provides a CDS framework for primary care and specialty clinics to incorporate APOL1 genetic risk and pharmacogenomic prescribing in the electronic health record. TRIAL REGISTRATION: ClinicalTrials.govNCT04191824.

From a Distance: Comparison of In-Person and Virtual Assessments With Adult-Child Dyads From Linguistically Diverse Backgrounds.

PURPOSE: Our proof-of-concept study tested the feasibility of virtual testing using child assessments that were originally validated for in-person testing only. METHOD: Ten adult-child dyads were assigned to complete both in-person and virtual tests of language, cognition, and narratives. Child participants fell between the ages of 4 and 8 years; adult participants were speech-language clinicians or researchers with experience in administering child assessments. Half of child participants were Spanish-English bilinguals, and half were monolingual English speakers. RESULTS: Results showed similar performance across in-person and virtual modalities on all assessments. Recommendations for adapting, administering, and scoring virtual measures with linguistically diverse children are discussed. CONCLUSIONS: Although additional research on virtual assessment is needed, our results open opportunities for appropriate remote assessment, particularly for bilingual children, who may not have in-person access to speech-language pathology services.