Last Updated : March 6, 2023
Screening aims to detect the early signs of specific health condition or assess the likelihood of having specific health conditions among people who are otherwise asymptomatic. Many screening interventions, including those that use genetic testing, are often limited to specific subpopulations with certain risk factors based on age, family history, or other health behavioural or demographic factors. However, using stringent criteria for genetic screening can miss a substantial proportion of people who may have high-risk mutations.
Driven by the decreasing costs of sequencing, increased availability of testing, and ongoing development of better analysis algorithmics, screening using genetic testing could see further expansion over the next 5 years and become more widely available at a population level for people of all ages, reducing the need for stringent eligibility criteria.
Some emerging pilot studies and initiatives to watch include: