The experience of one pediatric geneticist with telemedicine-based clinical diagnosis.

Telemedicine has long been considered as an attractive alternative methodology in clinical genetics to improve patient access and convenience. Given the importance of the dysmorphology physical examination and anthropometric measurement in clinical genetics, many have wondered if lost information would hamper diagnosis. We previously addressed this question by analyzing thousands of diagnostic encounters in a single practice involving multiple practitioners and found no evidence for a difference in new molecular diagnosis rates. However, our previous study design resulted in variability in providers between in-person and telemedicine evaluation groups. To address this in our present study, we expanded our analysis to 1104 new patient evaluations seen by one highly experienced clinical geneticist across two 10-month periods before and after the start of the COVID-19 pandemic. Comparing patients seen in-person to those seen by telemedicine, we found significant differences in race and ethnicity, preferred language, and home zip code median income. The clinical geneticist intended to send more genetic testing for those patients seen by telemedicine, but due to issues with test authorization and sample collection, there was no difference in ultimate completion rate between groups. We found no significant difference in new molecular diagnosis rate. Overall, we find telemedicine to be an acceptable alternative to in-person evaluation for routine pediatric clinical genetics care.

Responding to COVID-19 related mental health impacts among elite athletes

The COVID-19 pandemic has impacted considerably on elite athletes' performance. In this paper, we aim to examine how the psychosocial effects of COVID-19 may impact on athletes. First, mental health problems are as common among elite athletes as among the general population. Second, the mental health effects of COVID-19 are common in adolescents and young adults. Third, there are recognised gender differences in mental health related help-seeking behaviour. There is emerging evidence that these issues may be exacerbated by the pandemic. While there is little evidence on what interventions may help to address this problem, it is possible that optimising the identification and treatment of mental health problems (in an appropriate and acceptable manner) and promoting team cohesion and interaction may be effective. Addressing this issue is important for all team doctors and healthcare professionals associated with sports teams (both elite and non-elite).

Implementation of telemedicine-based pediatric genetics care at the Children’s Hospital of Philadelphia

Background: The COVID-19 pandemic has necessitated an unprecedented increase in the use of telemedicine, the distribution of healthcare services using communication technology which allows for physical separation of the patient and provider. In Pediatric Genetics, there has been a longstanding interest in implementing telemedicine-based care to increase access to diagnostic testing, patient counseling and medical management of rare inherited diseases. In response to COVID-19, the Division of Human Genetics at the Children’s Hospital of Philadelphia rapidly transitioned to telemedicine-based care. Objective/Aim:We sought to understand howthe use of telemedicine affected medical care for patients with suspected or confirmed genetic conditions. In addition to assessing the immediate impact of telemedicine on Pediatric Genetics care, we asked if this new care model could provide long-term benefit in increasing our effectiveness and efficiency, improving patient outcomes and reducing healthcare disparities. Methods:We initiated a quality improvement project to evaluate the utility of telemedicine pre-pandemic and during the pandemic. This included 3869 outpatient encounters in the Division of Human Genetics from March 1, 2020 to November 30, 2020 and 3228 outpatient encounters from the same time period in 2019. Visit types, diagnosis codes, patient demographics and laboratory procedure codes were pulled from Epic, and patient satisfaction was assessed using Press Ganey scores. This project was undertaken as a Quality Improvement Initiative and as such does not constitute human subjects research. Results: Of the encounters in 2020, 75% (n = 2895) were virtual, compared to 3% (n = 81) of the encounters in 2019. Using primarily telemedicine-based appointments in 2020, we saw nearly 20% more patients than were seen using primarily in-person appointments in the same time period in 2019. Genetic counselor-only appointments more than doubled, with 312 encounters (8% of all appointments) in 2020, and 149 encounters (5% of all appointments) in 2019. The distribution of visit types was similar in both time periods, with new patient appointments comprising 56% of appointments in 2020 compared to 53% in 2019, and follow-up appointments comprising 44% of appointments in 2020 compared to 47% in 2019. Press Ganey scores indicated improved rates of overall patient satisfaction (84.3% in 2020 vs. 80.1% in 2019) as well as satisfaction with access (76.0% in 2020 vs. 62.1% in 2019) and moving through the visit (67.7% in 2020 vs. 56.4% in 2019). Conclusion: The Division of Human Genetics at the Children’s Hospital of Philadelphia seamlessly transitioned to telemedicine in the midst of a global pandemic. Using telemedicine, there was increased patient access and patient satisfaction. Long-term use of telemedicine may result in increased access to care and improved efficiency in care delivery.

The COVID-19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers.

BACKGROUND: The world has suffered immeasurably during the COVID-19 pandemic. Increased distress and mental and medical health concerns are collateral consequences to the disease itself. The Genes to Mental Health (G2MH) Network consortium sought to understand how individuals affected by the rare copy number variations of 22q11.2 deletion and duplication syndrome, associated with neurodevelopmental/neuropsychiatric conditions, were coping. The article focuses on worry and disruptions in medical care caused by the pandemic. METHODS: The University of Pennsylvania COVID-19 Stressor List and care disruption questions were circulated by 22 advocacy groups in English and 11 other languages. RESULTS: A total of 512 people from 23 countries completed the survey; most were caregivers of affected individuals. Worry about family members acquiring COVID-19 had the highest average endorsed worry, whilst currently having COVID-19 had the lowest rated worry. Total COVID-19 worries were higher in individuals completing the survey towards the end of the study (later pandemic wave); 36% (n = 186) of the sample reported a significant effect on health due to care interruption during the pandemic; 44% of individuals (n = 111) receiving care for their genetic syndrome in a hospital setting reported delaying appointments due to COVID-19 fears; 12% (n = 59) of the sample reported disruptions to treatments; and of those reporting no current disruptions, 59% (n = 269) worried about future disruptions if the pandemic continued. Higher levels of care disruptions were related to higher COVID-19 worries (Ps < 0.005). Minimal differences by respondent type or copy number variation type emerged. CONCLUSIONS: Widespread medical care disruptions and pandemic-related worries were reported by individuals with 22q11.2 syndrome and their family members. Reported worries were broadly consistent with research results from prior reports in the general population. The long-term effects of COVID-19 worries, interruptions to care and hospital avoidance require further study.