Genetics
Poster Session 2
Shayan Dioun, MD
Columbia University Medical Center
New York, NY, United States
Luiza Perez, BS
Medical Student
Weill Cornell Medical College
New York, NY, United States
Ravi Sharaf, MD
Weill Cornell Medical College
New York, NY, United States
June Hou, MD
Columbia University Irving Medical Center
New York, NY, United States
Jason D. Wright, MD
Columbia University Medical Center
New York, NY, United States
Malavika Prabhu, MD (she/her/hers)
Assistant Professor, Division of Maternal Fetal Medicine
Massachusetts General Hospital
Boston, MA, United States
Melissa Frey, MD
Weill Cornell Medical College
New York, NY, United States
Incorporation of BRCA1 mutation testing at time of obstetrical carrier screening could provide a potential avenue for identifying patients with mutations. We developed a cost-effectiveness analysis to simulate BRCA1 testing versus no BRCA1 testing at the time of obstetrical carrier screening to assess population outcomes of such an approach.
A decision analysis and Markov model was creating in a theoretical cohort of 1,429,074 pregnant patients who annually undergo expanded carrier screening in the U.S. The initial decision point in the model was BRCA1 testing at time of expanded carrier screening. Model probabilities, cost and utility values were derived from published literature. For BRCA1 positive patients, the model simulated breast cancer screening and risk-reducing surgical interventions. A cycle length of 1 year and a time horizon of 47 years was used to simulate the lifespan of pregnant patients. Clinical outcomes included BRCA1 mutation positivity, cancer cases, and cancer deaths. Effectiveness was calculated in terms of average quality adjusted life years (QALYs). The primary outcome was incremental cost-effectiveness ratios (ICERs), expressed in 2022 US dollars/QALYs. One-way and two-way sensitivity analyses were performed to vary the assumptions across a range of plausible values.
Among our cohort, BRCA1 testing resulted in 3,716 additional BRCA1 patients being identified, 1,394 breast and ovarian cancer cases prevented, and 1,084 fewer deaths (Table 1). BRCA1 testing was a cost-effective strategy compared to no BRCA1 testing with an ICER of $86,001/QALYs. Multiple one-way and two-way sensitivity analyses did not substantially impact the cost-effectiveness.
Among pregnant women, BRCA1 testing at time of obstetrical prenatal carrier screening is a cost-effective management strategy to identify at risk women at a time when cancer screening and preventive strategies can be effective. Despite the burden of additional genetic counseling, prenatal care represents a unique opportunity to implement population based genetic testing.