Genetic service delivery: infrastructure, assessment and information

Area of Science:

• Public Health Genomics
• Genetic Service Delivery
• Complex Disease Prevention

Background:

• Genomic discoveries for complex disorders necessitate public health system integration of genetic services.
• This aligns with established public health functions and obligations, extending beyond birth defects and newborn screening.
• Current public health efforts are increasingly focused on genetic prevention strategies for major diseases.

Purpose of the Study:

• To outline current and emerging models for genetic service delivery within public health systems.
• To identify essential tools and technologies supporting genetic service provision.
• To highlight the critical need for workforce development and enhanced genomics education for primary care providers.

Main Methods:

• Review of existing public health obligations and Institute of Medicine core functions.
• Analysis of various genetic service delivery models (e.g., primary care, medical home, specialized centers, networks).
• Identification of enabling tools such as telemedicine, IT, and management systems.

Main Results:

• Multiple service delivery models exist, integrating primary care, subspecialists, and medical homes.
• Essential support tools include outreach, telemedicine, information technology, and management plans.
• Assessment tools are crucial for quality improvement and best practice development.
• A significant gap exists between the demand for genetic services and the available workforce.

Conclusions:

• Public health systems must adapt service delivery models to incorporate genetic services for complex disorders.
• Investment in enabling technologies and robust assessment tools is vital for effective genetic service delivery.
• Addressing the genetics workforce shortage and enhancing primary care genomics knowledge are critical priorities.