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With New Genetic Knowledge, New Possibilities for Cancer Screening
Individual genetic markers can reveal increased risks of breast and ovarian cancer, but recent research examines the cumulative impact of multiple markers and could inform more effective genetic screening procedures. A team of British researchers (Pharoah, et al.) have weighed the costs and benefits of targeted screening procedures for these common cancers. Their research appears in the most recent New England Journal of Medicine.
They examine studies of seven susceptibility alleles with low penetrance, or a small likelihood of causing a disease that individually play a very small role in increasing a woman’s risk for breast and ovarian cancer, but can have a significant cumulative effect. They do not examine low-frequency, high-penetrance mutations in genes like BRCA1 and 2, which increase the risk of breast and ovarian cancer, or TP53, which suppresses tumor formation. The study focused on an analysis of just how significant the cumulative effect of multiple mutations is and whether it is worth changing screening procedures in order to target women with a higher-than-average level of risk due to genetic predisposition.
This study, along with an increasing number of papers which identify cancer-susceptibility genes and meta-studies which analyze the statistical significance of those genes, focus attention on the question of how knowledge of our genes will shape public health in the future. The Pharoah article discussed several scenarios for screening programs and concluded that it would be possible and cost-effective to genotype every woman in the United Kingdom at all known susceptibility alleles and recommend personalized screening routines regarding what age the women should begin to get mammograms. Based on genetic susceptibility, the study concludes that only 0.1 percent of women in the United Kingdom should begin annual screenings at the age of 40, which is the current recommendation.
This targeted approach to cancer screening might save money, but there are certainly several obstacles to implementation of a measure like this in the United Kingdom, the United States, or anywhere else, including the issue of how to reach every woman in the population and how to insure the privacy promised in the Genetic Information Nondiscrimination Act while still delivering personalized screening recommendations. Nevertheless, our small but steadily increasing understanding of our genome ensures that more tests and treatments in the future will be tailored to our personal genetic makeup. As the Pharoah article concludes, “Policymakers should start to consider how this knowledge could be used to make a polygenic approach to disease prevention a reality.”
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