In a new publication in Genetics in Medicine, recent CHOICE graduate Joyce Jiang, PhD, evaluated the cost effectiveness of screening the general population for risk of colon cancer using genomic sequencing.
Dr. Jiang studied two types of genomic risk assessment: one that identifies genomic variation that is common and associated with moderately higher risk (polygenic risk scores, PRS), and another that identifies rare but high-risk variants (Lynch syndrome). Which one should we use?
Dr. Jiang and colleagues, including PhD advisor David Veenstra, PharmD, PhD, developed a decision analytic model to project long-term clinical and economic outcomes to answer this question. They found that each approach provided clinically meaningful benefits to patients but was only marginally cost effective on their own. Dr. Jiang found that the solution to improving value is to provide both types of genomic screening at the same time! Furthermore, the authors used the model to identify the ideal threshold for identifying patients as PRS ‘high-risk’: those in the 90th percentile of risk.
These findings will help genomics researchers design more effective and economically valuable genomic screening programs and guide decision makers in the development of clinical guidelines and reimbursement policies.
Publication: https://pubmed.ncbi.nlm.nih.gov/39360752/