ICFHS study explores how genomics is transforming primary care practice

Dr Braulio Mark Valencia Arroyo from International Centre for Future Health Systems (ICFHS) is leading a study to review and map existing knowledge on the use of genetic and genomic testing in primary care.  As genomics is already changing healthcare, it is helping families understand inherited conditions, supporting earlier diagnosis of rare diseases, guiding cancer treatment, tracking antimicrobial resistance, and strengthening responses to pandemics. However, these advances have not yet been equally translated into everyday primary care, where most people first seek help and where common, long-term conditions are usually managed.  Primary care is the front door of the health system. It is where people receive preventive care, discuss symptoms, manage chronic conditions, and make decisions about referrals, medicines, and follow-up. Yet it remains unclear how genetic and genomic testing can be used in this setting in ways that are useful, affordable, safe, and fair for patients, families, clinicians, and health systems.

This project will create an evidence and gap map, a visual tool that shows where strong evidence already exists, where evidence is limited, and where important questions remain unanswered.  The map will examine not only whether genomic testing improves health outcomes, but also what is needed for it to work in real-world primary care. This includes the health workforce, information systems, technology, funding, service delivery, and leadership. By identifying what is known and what is missing, this project will help guide future research, policy, and investment so that genomics can be introduced into primary care in ways that are practical, responsible, and equitable.