Before the COVID-19 public health emergency, few genetics providers used telehealth. As a response to this, many genetics providers began conducting telehealth care, referred to as telegenetics, usually with guidance from their institutions but without specific guidance related to the uniqueness of genetic services. The Telegenetics Workgroup of the National Coordinating Center for Regional Genetics Networks convened a panel of experts in the fields of telemedicine, genetics, and genomics to review the existing literature on telegenetics and synthesize best operating practices for medical geneticists, genetic counselors, and metabolic dietitians providing telegenetics services. The group searched PubMed using the terms "telegenetics," "telemedicine + genetics," and "telehealth + genetics." The group also reviewed the Northeast Telehealth Resource Center's telegenetics webliography. Websites were searched, including the American Telemedicine Association's website, Center for Connected Health Policy, and National Telehealth Resource Center for position statements, standards documents, and guidelines. The group met frequently by videoconference and discussed the literature, and using expert consensus, the group determined best practices in providing telegenetics services. These telegenetics best practices cover important aspects of telegenetics services, including, but not limited to, ongoing delivery of telegenetics services, use of special technology, legal and regulatory requirements, and considerations regarding special settings and circumstances in which telegenetics may be conducted. Recognizing the growing use of telegenetics and a future in which telegenetics continues to be part of the regular practice of genetics, this guide informs genetics providers of best practices for delivering telegenetics services to patients.
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http://dx.doi.org/10.1089/tmj.2024.0110 | DOI Listing |
Pediatr Res
January 2025
Division of Pediatric Cardiology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
The integration of genomic medicine into pediatric clinical practice is a critical need that remains largely unmet, especially in socioeconomically challenged and rural areas where healthcare disparities are most pronounced. This review seeks to summarize the barriers responsible for delayed diagnosis and treatment, and examines diverse care models, technological innovations, and strategies for dissemination and implementation aimed at addressing the evolving genomic needs of pediatric populations. Through a comprehensive review of the literature, we explore proposed methodologies to bridge this gap in pediatric healthcare, with a specific emphasis on understanding and speeding implementation approaches and technologies to mitigate disparities in underserved populations, including rural and marginalized communities.
View Article and Find Full Text PDFClin Cancer Res
January 2025
Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Rockville, Maryland.
Phosphate and tensin homolog hamartoma tumor syndrome, DICER1-related tumor predisposition, and tuberous sclerosis complex are rare conditions, which each increases risk for distinct spectra of benign and malignant neoplasms throughout childhood and adulthood. Surveillance considerations for each of these conditions focus on patient and family education, early detection, and multidisciplinary care. In this article, we present updated surveillance recommendations and considerations for children and adolescents with phosphate and tensin homolog hamartoma tumor syndrome, DICER1-related tumor predisposition, and tuberous sclerosis complex and provide suggestions for further research in each of these conditions.
View Article and Find Full Text PDFClin Cancer Res
December 2024
International Pleuropulmonary Blastoma/DICER1 Registry, Children's Minnesota, Minneapolis, Minnesota.
J Genet Couns
October 2024
Prince of Wales Hereditary Cancer Centre, Prince of Wales Hospital, Randwick, New South Wales, Australia.
The demand for direct-to-patient (DTP) telegenetics (genetics services delivered via videoconferencing) in genetic counseling practice has rapidly increased, particularly since the COVID-19 pandemic. Recent telegenetics literature is mostly quantitative and not in the Australian context. A qualitative interview study was conducted to address this gap.
View Article and Find Full Text PDFGenes (Basel)
July 2024
22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Purpose: Genetic counselors (GCs) increasingly play key roles in advancing genomic medicine through innovative research. Here, we examine one large cohort of GCs' evolving contributions to the literature, with the goal of facilitating worldwide professional development for GCs through scholarly activities.
Methods: Publications were cataloged by members of the Section of Genetic Counseling (Section), established at the Children's Hospital of Philadelphia and the University of Pennsylvania in 2014, including publication year, journal, impact factor, and author position.
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