An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist

Abstract

There is a shortage of genetics providers worldwide and access is limited to large academic centers. Telemedicine programs can facilitate access to genetic services to patients living in remote locations. The goal of this study was to improve access to genetic services in the Dominican Republic by creating a partnership model between a pediatrician and geneticist. This approach has been used within the United States but not in the setting of two different countries, healthcare system, and cultures. Patients were referred to the Centro de Obstetricia y Ginecologia program if a syndromic or genetic etiology was suspected by their local provider. Pediatrician first evaluated all patients prior to telemedicine appointment to review family and medical history. All genetic visits were scheduled within 2 weeks of referral in collaboration with telehealth program at Cincinnati Children's Hospital Medical Center. A total of 66 individuals were evaluated during a period of 5 years. Fifty-seven individuals underwent genetic studies, and a molecular diagnosis was made in 39 individuals. Exome sequencing was the most common first line test when differential diagnosis was broad (n = 40). The most common inheritance was autosomal recessive in 15 individuals, followed by 13 individuals with autosomal dominant disorders, 7 individuals X-linked disorders, and 4 individuals with chromosomal abnormalities. This study provides data to support utility of geneticist and pediatrician partnership to provide outreach telemedicine diagnostics and management services for rare diseases in an international setting.

Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean

“…They present the results of genetic testing in more than 100 individuals with suspected genetic disorders and report a diagnostic yield of exome sequencing of ~50%. Another study reports on an international telemedicine program in the Dominican Republic, through which a genetic molecular diagnosis was obtained for 39/57 (68%) individuals that received genetic testing, mostly through exome sequencing (Mena et al, 2020). Finally, Scantlebury et al (2021) describe their experience with performing ES for the first time in five patients on the Eastern Caribbean island of Barbados, identifying a diagnostic pathogenic variant in three patients and a VUS in one patient.…”

“…Studies in other resource‐limited areas show similar promising results, with a diagnostic yield ranging from 29% for proband‐only exome sequencing of known Mendelian disease genes in a Chinese study (Hu et al, 2018), to a yield of 68% in a Mexican study on clinical genome sequencing (Scocchia et al, 2019). Moreover, studies that also investigated clinical consequences of the genetic diagnosis report an impact on clinical management in 45–69% of patients (Hu et al, 2018; Mena et al, 2020; Scocchia et al, 2019). Thus, genetic services can significantly contribute to healthcare even in lower resource settings.…”

“…These were mainly referrals to other medical specialists for screening for associated risks and/or therapeutic advice, but also included referrals to a physiotherapist, speech therapist, and dietician. (68%) individuals that received genetic testing, mostly through exome sequencing (Mena et al, 2020). Finally, Scantlebury et al (2021) describe their experience with performing ES for the first time in five patients on the Eastern Caribbean island of Barbados, identifying a diagnostic pathogenic variant in three patients and a VUS in one patient.…”

Telegenetics to provide comprehensive prenatal diagnosis

“…23 A recent study provides an example in which an international collaborative partnership between pediatricians and geneticists was formed to provide genetic services using telemedicine. 24 This 5-year partnership resulted in earlier clinical diagnosis, provision of guidance about genetic testing, and avoidance of unnecessary testing and/or diagnostic procedures. A videoconference encounter involving a geneticist, patient, and family with a local pediatric team also had a high satisfaction rate.…”

Introduction to the special issue on Clinical Genetics in Latin America

“…Access to genomics services and innovative approaches are common across the Latin American region. In this special issue, we describe a model to provide genetics services in the Dominican Republic by developing a partnership between a pediatrician and a geneticist across countries (Mena et al, 2020). This model allows for developing networks to facilitate genetic testing and early diagnostics that can impact management and on‐time counseling to many individuals and families affected by rare diseases.…”