Rapid deployment of a telemedicine care model for genetics and metabolism during COVID-19

Am J Med Genet A. 2021 Jan;185(1):68-72. doi: 10.1002/ajmg.a.61911. Epub 2020 Oct 14.


The national importance of telemedicine for safe and effective patient care has been highlighted by the current COVID-19 pandemic. Prior to the 2020 pandemic the Division of Genetics and Metabolism piloted a telemedicine program focused on initial and follow-up visits in the patients' home. The goals were to increase access to care, decrease missed work, improve scheduling, and avoid the transport and exposure of medically fragile patients. Visits were conducted by physician medical geneticists, genetic counselors, and biochemical dietitians, together and separately. This allowed the program to develop detailed standard operating procedures. At the onset of the COVID-19 pandemic, this pilot-program was deployed by the full team of 22 providers in one business day. Two physicians remained on-site for patients requiring in-person evaluations. This model optimized patient safety and workforce preservation while providing full access to patients during a pandemic. We provide initial data on visit numbers, types of diagnoses, and no-show rates. Experience in this implementation before and during the pandemic has confirmed the effectiveness and value of telemedicine for a highly complex medical population. This program is a model that can and will be continued well-beyond the current crisis.

Keywords: COVID-19; genetics; pediatrics; telemedicine.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • COVID-19 / epidemiology*
  • Child
  • Child, Preschool
  • Delivery of Health Care / methods
  • Delivery of Health Care / organization & administration*
  • Delivery of Health Care / standards
  • Endocrinology / education
  • Endocrinology / organization & administration*
  • Female
  • Genetic Counseling / methods
  • Genetic Counseling / organization & administration
  • Genetic Counseling / standards
  • Genetic Diseases, Inborn / epidemiology
  • Genetic Diseases, Inborn / therapy
  • Genetic Testing / methods
  • Genetic Testing / standards
  • Genetics, Medical / education
  • Genetics, Medical / organization & administration*
  • Humans
  • Implementation Science
  • Infant
  • Infant, Newborn
  • Internship and Residency / methods
  • Internship and Residency / organization & administration
  • Internship and Residency / standards
  • Male
  • Metabolic Diseases / epidemiology
  • Metabolic Diseases / therapy
  • Middle Aged
  • Models, Organizational*
  • Pandemics*
  • Patient Safety
  • Pilot Projects
  • Program Evaluation
  • Telemedicine / methods
  • Telemedicine / organization & administration*
  • Young Adult