Photo from the Official Chris Evert Website
There’s been big news lately in the world of professional tennis, a sport I do not normally follow closely.
No, I’m not referring to top-ranked Novak Djokovic, who entered Australia unvaccinated against SARS-CoV-2 and was sent back to Serbia without playing in the Australian Open.
I am referring to Chris Evert. She dominated women’s tennis in the 1970s and 1980s, won numerous international titles, and inspired countless young players. Earlier this month, she inspired me and many others who work in precision medicine and cancer research. She announced her diagnosis of early stage ovarian cancer.
Her story underscores the value of research, and, more relevant to my role at the Brotman Baty Institute, motivates our work on “variants of unknown significance.” And their real-world consequences for people. You see, Evert’s sister, Jeanne, also a professional tennis player, died from ovarian cancer in 2020. She had a variant in the BRCA1 gene that was a variant of unknown significance, meaning that they did not know if it was likely to have caused her to be at increased risk for ovarian cancer. In the few years since Jeanne’s diagnosis, subsequent research found that her variant was indeed pathogenic. That discovery meant that there could be a familial connection. In early December, Chris learned she also had the same variant of the BRCA1 gene and subsequently, was diagnosed with cancer which was identified after a preventative surgery.
Her cancer was detected early. She will undergo chemotherapy, and her prognosis, from what I have read, thankfully, is quite good.
We generate data in our research labs to inform the classification of variants found in people like Chris and Jeanne Evert. In fact, data from our labs may have been linked to the identification of the type of BRCA1 variant associated with their cancer. We’ll probably never know for sure, but what’s important is the imperative of continuing this research so that people may know if they harbor variants that increase their risks of deadly disease.
Many funders also recognize this imperative. Last September, the National Human Genome Research Institute, an office of the National Institutes of Health, awarded BBI and UW Medicine $16 million, including $8 million for research to explore and analyze the effect of variants in genes likely to affect a patient’s care. We want to be able to definitively classify variants identified by genetic testing as either harmful or harmless. My colleague Doug Fowler and I are co-principal investigators of this work, part of the new Center for Actionable Variant Analysis at UW Medicine.
Our research does not stop there. Doug is the principal investigator for our Center for the Multiplexed Assessment of Phenotype, (CMAP), also funded by the National Human Genome Research Institute. The goals are related to CMAP: develop technologies to assess the functional impact of variants in human genes. Linking phenotype to genotype is one of the most pressing problems in our field of science; in collaboration with colleagues at the University of Toronto, we are working to enable genome-guided precision medicine in clinical decision making. Our goal is to enable genome-guided precision medicine for more patients like Chris Evert to not only detect cancer at its earliest stages, but eventually prevent it.
Dr. Starita is a Research Assistant Professor in the Department of Genome Sciences at UW Medicine and Co-Director of the Brotman Baty Advanced Technology Lab.
