Health Economic Evaluation Model for Breast Cancer Risk Management Through Preimplantation Genetic Testing for Monogenic Disorders (PGT-M)
Author(s)
Saki Ozeki1, Mana AKAI, BS2, Ryutaro Sakai, BS2, Seiya Taniguchi, BS2, Kensuke Moriwaki, BS, MS, PhD3, Tsuguo Iwatani, MD, PhD4, Nao Suzuki, MD, PhD4.
1Student, Ritsumeikan university, Kusatsu, Japan, 2Ritsumeikan University, Kusatsu, Japan, 3Ritsumeikan University, Kyoto, Japan, 4St. Marianna University School of Medicine, Kawasaki, Japan.
1Student, Ritsumeikan university, Kusatsu, Japan, 2Ritsumeikan University, Kusatsu, Japan, 3Ritsumeikan University, Kyoto, Japan, 4St. Marianna University School of Medicine, Kawasaki, Japan.
OBJECTIVES: In recent years, it has become technically feasible to reduce cancer risk by avoiding BRCA1/2 pathogenic variants through preimplantation genetic testing for monogenic diseases (PGT-M). However, as PGT-M involves selecting embryos, it raises significant ethical, legal, and social concerns that require multifaceted consideration. This study aimed to evaluate the impact of PGT-M on health outcomes, specifically focusing on life expectancy as an indicator of breast cancer risk control.
METHODS: A Markov model was developed to estimate the long-term prognosis related to breast cancer in children born to parents with known BRCA1/2 mutations, under two scenarios: natural conception and PGT-M-based risk reduction. The model included five health states: event-free, localized cancer, regional cancer, distant cancer, and death. In the natural conception group, offspring were assumed to have a 50% probability of inheriting a BRCA1/2 mutation, which was associated with increased cancer risk. In contrast, all individuals in the PGT-M group were assumed to follow the cancer risk profile of the general population.
A lifetime simulation was conducted to evaluate the expected life years gained through PGT-M risk reduction.
RESULTS: Compared to the natural conception group carrying BRCA1/2 mutations, the PGT-M group showed an estimated gain of 0.418 to 0.575 years in life expectancy. Additionally, the duration of life spent in a cancer state was reduced in the PGT-M group.
CONCLUSIONS: PGT-M for BRCA1/2 risk reduction is associated with an increase in overall life expectancy and a decrease in time spent in breast cancer states, indicating the potential for improving quality-adjusted life years (QALYs). However, to assess the cost-effectiveness of this technology from the perspective of Japan's public healthcare system and societal values, it is essential to incorporate utility values that reflect preferences of the Japanese population and to estimate healthcare resource utilization associated with both the PGT-M procedure and cancer treatment.
METHODS: A Markov model was developed to estimate the long-term prognosis related to breast cancer in children born to parents with known BRCA1/2 mutations, under two scenarios: natural conception and PGT-M-based risk reduction. The model included five health states: event-free, localized cancer, regional cancer, distant cancer, and death. In the natural conception group, offspring were assumed to have a 50% probability of inheriting a BRCA1/2 mutation, which was associated with increased cancer risk. In contrast, all individuals in the PGT-M group were assumed to follow the cancer risk profile of the general population.
A lifetime simulation was conducted to evaluate the expected life years gained through PGT-M risk reduction.
RESULTS: Compared to the natural conception group carrying BRCA1/2 mutations, the PGT-M group showed an estimated gain of 0.418 to 0.575 years in life expectancy. Additionally, the duration of life spent in a cancer state was reduced in the PGT-M group.
CONCLUSIONS: PGT-M for BRCA1/2 risk reduction is associated with an increase in overall life expectancy and a decrease in time spent in breast cancer states, indicating the potential for improving quality-adjusted life years (QALYs). However, to assess the cost-effectiveness of this technology from the perspective of Japan's public healthcare system and societal values, it is essential to incorporate utility values that reflect preferences of the Japanese population and to estimate healthcare resource utilization associated with both the PGT-M procedure and cancer treatment.
Conference/Value in Health Info
2025-11, ISPOR Europe 2025, Glasgow, Scotland
Value in Health, Volume 28, Issue S2
Code
MT23
Topic
Economic Evaluation, Health Technology Assessment, Medical Technologies
Disease
Genetic, Regenerative & Curative Therapies, Oncology