Telegenetics in India: A 3-year review of 938 appointments and patient-clinician perspectives

J Genet Couns. 2025 Dec;34(6):e70152. doi: 10.1002/jgc4.70152.

ABSTRACT

Telemedicine holds promise to improve accessibility of subspecialties of medicine, including clinical genetics; however, limited physical examination, technical issues, and psychosocial challenges are well-reported limitations. "Hybrid" telemedicine-combining virtual and in-person care, or involving local providers during online appointments-may help address these limitations. India's cultural diversity, unequal healthcare access, and expanding digital infrastructure make it well-suited for telemedicine; however, alternative models, including hybrid approaches, remain underexplored. This study was conducted in two parts. Part A was a retrospective chart review comparing "pure" (entirely virtual) and "hybrid" telemedicine appointments at an urban genetics clinic. The effectiveness of these models was compared by analyzing the categories of patients' established genetic diagnoses, which were either internally diagnosed (through testing at the clinic) or externally diagnosed (presenting with a prior diagnosis). The definition of established genetic diagnoses was limited to only pathogenic or likely pathogenic variants. Part B prospectively assessed patient and clinician experiences with a questionnaire. Descriptive and inferential statistics were used for analysis. Part A included 938 appointments with 739 individuals. A significantly higher proportion of internally diagnosed patients were seen via hybrid telemedicine, whereas externally diagnosed patients were more often seen via pure telemedicine. Part B included responses from 86 patients and 60 clinicians. Patients cited benefits relating to accessibility and convenience, with few citing technical issues or difficulty building rapport. Clinicians noted advantages in regional connectivity and follow-up appointments, but all reported challenges, including clinical, technical, or rapport-building difficulties. Patient-reported satisfaction exceeded clinician-reported satisfaction. These findings suggest that strategic use of hybrid models and thoughtful patient selection can address some limitations of telegenetics, while also highlighting the disparity in telemedicine experiences between patients and clinicians. This study serves as a starting point for understanding both the promise and challenges of telemedicine for genetic counseling in India.

PMID:41324280 | DOI:10.1002/jgc4.70152