How Advances May Allow Us to Challenge Our Genetic Fate

December 27, 2018
Debu Tripathy, M.D.

MANY OF US GREW up with the adage that one cannot challenge fate. This has long been extended to the notion that the effects of one’s genetic makeup are inalterable.

MANY OF US GREW up with the adage that one cannot challenge fate. This has long been extended to the notion that the effects of one’s genetic makeup are inalterable.

However, this idea has been shaken to the core over the past two decades, as the technology of gene sequencing has allowed us to discover, test for and manage inherited genetic mutations that put us at a much higher risk of several conditions — most notably, cancer.

In this bonus issue, Sue Friedman, the founder of Facing Our Risk of Cancer Empowered (FORCE), an organization dedicated to the education and support of people affected by hereditary predisposition to breast, ovarian and other cancers, provides perspective on cancer genetics.

This field has exploded since the 1994 discovery of the BRCA1 gene mutation with the identification of dozens of inherited genetic mutations that can have small or large impacts on the risks of diverse cancers that may inform one’s life strategies for monitoring and prevention. Such measures could even include prophylactic surgery to mitigate the risk and actually improve fate.

This is still a rather foreign concept to the general public, but just as we can learn more about our lineage through resources like Ancestry.com, we are coming to terms with how to understand and react to our genetic code and navigate the terrain of our medical susceptibilities. This information does not come without angst and fear, but — as highlighted in Friedman’s essay — it also empowers one to reshape destiny. As the tests become more reliable and the estimates of risk more accurate, it is imperative to raise awareness so that the population can benefit from these key advances. In fact, the guidelines for whom to test are expanding as we develop more concrete recommendations for those who are found to carry cancer susceptibility mutations.

Human nature is to avoid the fearful, but when information can turn into helpful action, it should be embraced through knowledge and comprehension.

DEBU TRIPATHY, M.D.Editor-in-ChiefProfessor of MedicineChair, Department of Breast Medical OncologyThe University of Texas MD Anderson Cancer Center

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