Primary Submission Category: Causal Discovery
Understanding impact of BRCA testing on healthcare utilization and clinical outcome
Authors: Xuyang Li, Kevin Gorman, Ilya Shpitser, Carolyn Applegate, Casey Taylor,
Presenting Author: Xuyang Li*
Clinical guidelines and previous studies suggested that the utility of BRCA1/2 testing is a determinant of patient’s prevention and treatment measurements for BRCA related cancers. As expanded offering of BRCA testing to a large population that are potentially eligible could pose a burden to clinical resources, there is a need to better understand the impact of BRCA testing on clinical decision making for cancer prevention and its effectiveness at preventing cancer. In this study we aimed to estimate the effects of BRCA testing on healthcare utilization and clinical outcomes. We leveraged the scale of the MarketScan dataset and employed causal discovery algorithms to recover the causal relationships between patient features and clinical actions, including family and personal history of breast cancer, BRCA testing, enhanced screening, surgical and chemoprevention or treatment measurements for breast cancer, and clinical diagnosis of active breast cancer and genetic susceptibility to breast cancer. The causal structure was represented as a directed acyclic graph. This enables us to estimate effects of BRCA testing on various clinical actions and breast cancer onset, while controlling for confounders and indirect effects. In addition, we will conduct counterfactual analysis by introducing simulated intervention, answering the question of what would have happened if all patients that are potentially eligible due to family history were to receive BRCA testing.