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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Digital health-enabled genomics: Opportunities and challenges.

Yvonne Bombard¹, Geoffrey S Ginsburg², Amy C Sturm³

¹University of Toronto, Genomics Health Services Research Program, St. Michael's Hospital, Unity Health Toronto, 30 Bond Street, Toronto, ON, M5B 1W8, Canada.

American Journal of Human Genetics

|July 8, 2022

Summary

Digital health and genomics are merging, creating tools for patient care and efficiency. Challenges in evidence, guidelines, and policy must be addressed for widespread adoption of digital genomics.

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Area of Science:

Digital Health
Genomics
Genomic Medicine

Background:

Digital health solutions (apps, virtual care, EHRs) are rapidly adopted, accelerated by the COVID-19 pandemic.
Wearables, sensors, and mobile tech aid in health risk identification, diagnosis, and monitoring.
Genomics is a leader in digital healthcare, with converging genomic and digital medicine fields.

Purpose of the Study:

To explore the emergence and application of digital support tools in genomics-enabled care.
To demonstrate use cases of digital genomics decision support, chatbots for genetic counseling, and digital genetic services.
To highlight the potential of digital solutions for patient-centered care, improved outcomes, and healthcare efficiency.

Main Methods:

Review and presentation of three use cases demonstrating digital genomics applications.
Analysis of the convergence of digital health technologies and genomic medicine.
Identification of strategic challenges and evidentiary gaps in digital genomic technologies.

Main Results:

Digital genomics decision support tools, chatbots, and digital genetic services are emerging.
These digital solutions can enhance patient-centered care, outcomes, and efficiency in genomic medicine.
Significant challenges remain, including gaps in clinical/cost-effectiveness evidence, guidelines, policy, and regulation.

Conclusions:

Digital health-enabled genomics offers significant potential for transforming healthcare.
Addressing evidentiary, policy, and regulatory gaps is crucial for sustainable and equitable deployment.
A research agenda guided by learning healthcare systems is proposed to realize this vision.