What is meant by clinical utility in genetic testing?

Clinical utility in genetic testing refers to how the results of a genetic test impact the management and care of a patient. This concept encompasses the ability of the test to provide information that can lead to changes in medical intervention, treatment strategies, or surveillance, ultimately improving patient outcomes.

For example, if a genetic test identifies a hereditary condition, this information can guide healthcare providers in making informed decisions about preventative care, potential therapies, familial screening, or lifestyle changes that may benefit the patient. When assessing clinical utility, the focus is on the real-world implications of the test results rather than just the technical aspects of the test itself.

Other aspects related to genetic testing, such as detecting all genetic variants, the prevalence of a specific disorder, or the accuracy of the test, represent important factors but do not encapsulate the essence of clinical utility. These elements contribute to understanding the test's effectiveness but do not directly address how the results influence patient care and treatment decisions.