Cost-effectiveness of BRCA1 testing at time of obstetrical prenatal carrier screening for cancer prevention
Pre-natal testing has become normal for all pregnant women in first world countries. With the availability of cheaper genetic testing, it may be possible to detect potentially lethal genetic mutations for mothers as well as the infant.
BRCA1/2 mutations are found in 1 in 400 women, these mutations increase the risk of breast, ovarian and other cancers. Early intervention has proved effective for prevention of cancer development for these women.
This study looks at the theoretical cost versus the benefit of doing prenatal testing and subsequent risk reduction. Retrospective analysis of almost 1.5 million women who had genetic screening for obstetric care suggested that, if BRCA1/2 and other autosomal dominant genetic mutations were included in the screen, there would be significant reduction in cancer.
However, whether the benefit of early knowledge of potential risk outweighs the adverse effects of increased anxiety, problems with employment and insurance, together with the reduced quality of life is not addressed. There is a cost-benefit advantage in terms of healthcare costs but there is a bigger picture.
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