The experience of one pediatric geneticist with telemedicine‐based clinical diagnosis

Abstract

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.

Perspectives on the future of dysmorphology

“…It is staggering to consider his and his colleagues' contributions when he first defined this term, long before the underlying causes of so many genetic conditions were known, and before so many genomic (and other 'omic) approaches were possible. With today's exploding technological tools and all the other changes in healthcare (e.g., the recent growth of telemedicine and remote work in general engendered by the COVID‐19 pandemic) (Campbell et al, 2022; Miller et al, 2021; Shur et al, 2021; Snir et al, 2021; Tise, 2021), I wondered more about how the specific area of dysmorphology might be expected to continue to change, whether for the better (e.g., more efficient and optimal patient care and communication) or the more dystopian (e.g., removal of the human element of compassion and empathy from medicine).…”