We compared the uptake of telemedicine for diabetes care across multiple demographic groups during the coronavirus disease 2019 pandemic to understand the impact of telemedicine adoption on access to care. RESEARCH DESIGN AND METHODSThe study analyzed demographic information of patients with type 1 diabetes seen between 1 January 2018 and 30 June 2020 at a single center. We compared the odds of completing a visit via telemedicine across multiple demographic characteristics. RESULTSAmong 28,977 patient visits, the odds of completing a visit via telemedicine were lower among non-English-speaking (1.7% vs. 2.7%; adjusted odds ratio [aOR] 0.45, 95% CI 0.26-0.79) and Medicaid-insured (32.0% vs. 35.9%; aOR 0.83, 95% CI 0.72-0.95) pediatric patients. No clinically significant differences were observed for other demographic factors. CONCLUSIONSRapid transition to telemedicine did not significantly impact access to diabetes care for most demographic groups. However, disparities in access to care for historically marginalized groups merit close attention to ensure that use of telemedicine does not exacerbate these inequities.Delivering high-quality diabetes care within the constraints of our current medical system is challenging, particularly for low socioeconomic status, non-English-speaking, and rural populations (1,2). Providers and commentators have expressed concern that the rapid shift to telemedicine as a result of the coronavirus disease 2019 (COVID-19) pandemic might have unintended negative consequences (3-5). We analyzed demographic data from patients with type 1 diabetes from the pediatric and adult diabetes clinics of a major academic diabetes center to identify demographic differences associated with this shift in care delivery and the potential impact on patients' access to diabetes care.

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Variants in the ALPL gene cause bone and dental disease in patients with and without the standard biomarker, low plasma AlkP. ALPL gene variants are more prevalent than currently reported and underdiagnosed. Gynecologic disease appears to be associated with HPP-causing variants in ALPL.

Context Hypophosphatasia (HPP) is a syndrome marked by low serum alkaline phosphatase (AlkP) activity as well as musculoskeletal and/or dental disease. While the majority of subjects with HPP carry a pathogenic variant in the ALPL gene or its regulatory regions, individual pathogenic variants are often not tightly correlated with clinical symptomatology. We sought to better understand the genotype/phenotype correlation in HPP by examining the clinical and biochemical data of 37 subjects with two rare variants in ALPL. Methods Through BioVU, a DNA biobank that pairs subjects’ genetic information with their de-identified medical record, we identified subjects with two rare variants with distinct reported clinical phenotypes (p.D294A and p.T273M). We then performed a manual review of these subjects’ de-identified medical records along with computational modeling of protein structure to construct a genetic, biochemical and clinical phenotype for each subject and variant. Results 20 subjects with the p.D294A variant and 17 with the p.T273M variant had sufficient data for analysis. Among subjects in our cohort with the p.D294A variant, six (30.0%) had both clinical bone disease and serum AlkP activity below 40 IU/L while four subjects (23.5%) with the p.T273M variant met the same criteria despite the distinct clinical phenotypes of these variants. Conclusions Given the loose genotype/phenotype correlation in HPP seen in our cohort, clinical context is crucial for the interpretation of genetic test results to guide clinical care in this population. Otherwise, over- or under-diagnosis may occur, resulting in misidentifying those who may benefit from additional screening and perhaps pharmacologic intervention.