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Study Assesses the Effectiveness of Telemedicine-Based Pediatric Genetics Care

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A new study from researchers at Children's Hospital of Philadelphia (CHOP) found that using telemedicine to evaluate patients with rare genetic conditions resulted in a similar rate of proper diagnosis as in-person visits. However, collecting genetic material from patients who are seen remotely is more challenging, suggesting there is room to improve telemedicine evaluations. The researchers also found lower rates of telemedicine use among families reporting historically marginalized backgrounds, indicating possible disparities in care.

The findings were published today in the journal Pediatrics.

The COVID-19 pandemic caused a major shift in the way pediatricians use telemedicine to care for children. Even before the pandemic, researchers were studying telemedicine in genetics to provide better access to patients. However, given the more widespread use of telemedicine during the pandemic, CHOP researchers wanted to ensure that telemedicine is an appropriate method to assess patients with suspected rare genetic disease.

Access to proper care for genetic conditions can be challenging. In addition to a shortage of providers who treat these conditions, those who do are often concentrated at large academic medical centers, primarily in urban areas. Typically, experienced physicians and genetic counselors conduct physical examinations, diagnostic testing, patient counseling, and management of rare inherited diseases. The implementation of "telegenetics" could overcome geographic barriers to care and increase patient access.

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Schedule27 Sep 2023