Evaluating the utility of current clinical genetic testing methods
Approved Research ID: 94918
Approval date: November 10th 2022
We aim to evaluate how well current genetic tests can determine whether individuals are likely to develop a complex disease, such as a cancer, cardiovascular condition, or immune condition. Each year, millions of patients take genetic tests in clinical settings to determine their risk for a complex heritable disease, such as some forms of breast cancer. The results of current genetic tests are used in clinical settings by specialists, medical geneticists, and genetic counselors to make decisions about next steps for patients, such as adjusting screenings (e.g., starting mammograms 10 years earlier, alternating with MRIs), treatment (e.g., recommending birth control or preventative surgery), and lifestyle changes (e.g., limiting dairy intake). However, most commonly used tests only look at a subset of the genome and not the entirety of a person's DNA. We want to analyze the accuracy of these tests and how performance varies by ethnic background. The public health impact of this work is to determine if a change is needed in current genetic testing and preventative health practices. By assessing the accuracy of current genetic testing and any disproportionate effects by ethnicity, we can evaluate the current state of testing and analyze potential levers to improve the accuracy or inclusivity of testing. The outcome can provide a basis for improving genetic diagnostics and recommended follow-up screenings, medication, and surgery for patients. Our project will last 3 years.