TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases

Article Genetics & Heredity

The use of telemedicine in cardiogenetics clinical practice during the COVID-19 pandemic

Lusha W. Liang et al.

Summary: This study examined the impact of COVID-19 on cardiogenetics practices. The results showed a significant increase in telemedicine visits for cardiogenetics during the pandemic, with an expanded geographic reach for genetic counseling.

MOLECULAR GENETICS & GENOMIC MEDICINE (2022)

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Review Cardiac & Cardiovascular Systems

Epidemiology of the inherited cardiomyopathies

William J. McKenna et al.

Summary: Estimates of the incidence and prevalence of inherited cardiomyopathies are challenging due to incomplete and late-onset disease expression, highly variable penetrance within families, and overlapping phenotypes. Current global estimates for hypertrophic, dilated, and arrhythmogenic cardiomyopathies may be conservative.

NATURE REVIEWS CARDIOLOGY (2021)

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Review Genetics & Heredity

Videoconferencing to deliver genetics services: a systematic review of telegenetics in light of the COVID-19 pandemic

Elizabeth G. Brown et al.

Summary: The review evaluated the evidence for telegenetics in delivering clinical genetics services via videoconferencing. Findings suggest that patient satisfaction, genetic knowledge, and psychosocial outcomes are similar for in-person and telegenetic counseling. Limited evidence indicates potential superiority of telegenetics over telephone delivery in knowledge gain and reduction in anxiety and depression.

GENETICS IN MEDICINE (2021)

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Review Genetics & Heredity

Benefits and limitations of telegenetics: A literature review

Anita Gorrie et al.

Summary: Telegenetics utilizes technology to provide genetic services remotely, with high acceptance among patients and health professionals during the pandemic. The main benefits include cost-effectiveness and reduced travel time, although some patients felt their psychosocial needs were not adequately met.

JOURNAL OF GENETIC COUNSELING (2021)

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Review Genetics & Heredity

Telehealth for genetic counseling: A systematic evidence review

Noelle R. Danylchuk et al.

Summary: Telehealth options for genetic counseling, such as videoconferencing and telephone counseling, are widely accepted. Studies show high patient satisfaction, reduced costs and travel time, but limited representation of diverse populations. Provider experiences have more disadvantages compared to patient experiences. Recommendations for future research are outlined for this field.

JOURNAL OF GENETIC COUNSELING (2021)

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Article Genetics & Heredity

Genetic counseling, virtual visits, and equity in the era of COVID-19 and beyond

Wendy R. Uhlmann et al.

Summary: The COVID-19 pandemic has accelerated the adoption of telehealth, with genetic counseling transitioning to virtual care and virtual visits expected to become a regular mode of provision for genetic services. This commentary discusses the successes and challenges of virtual visits and genetic testing considerations, highlighting the need for future research to address the needs of vulnerable populations and ensure equitable access.

JOURNAL OF GENETIC COUNSELING (2021)

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Article Genetics & Heredity

Transitioning to telegenetics in the COVID-19 era: Patient satisfaction with remote genetic counseling in adult neurology

Laynie Dratch et al.

Summary: The COVID-19 pandemic has led to a rapid transition to remote genetic counseling services at UPenn, and a survey conducted among patients receiving adult neurology genetic counseling remotely showed high levels of satisfaction. Most participants preferred a hybrid model for future visits, while a small percentage preferred exclusively remote services. No differences in satisfaction were found based on visit type or age, indicating that remote genetic counseling is well-received by patients in adult neurology.

JOURNAL OF GENETIC COUNSELING (2021)

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Letter Ophthalmology

Telegenetics for inherited retinal diseases in the COVID-19 environment

Ahmad Al-Moujahed et al.

Summary: The study team developed telehealth management protocols for complete or hybrid virtual visits, which included reviewing diagnostic test results remotely, in-person or virtual video visits with a retina specialist, and virtual genetic testing using saliva kits. During the first 5 months of the program, 80 patients received telegenetic care, including 3 international patients, and various retinal dystrophies were diagnosed and managed. Telegenetic virtual visits ensure continuity of care while reducing patient and provider exposure to SARS-CoV-2 and may continue and expand into other medical genetic conditions long after the pandemic.

INTERNATIONAL JOURNAL OF RETINA AND VITREOUS (2021)

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Review Cardiac & Cardiovascular Systems