Mutations in DNA are natural occurrences which can lead to diseases, sometimes have no effect on a person’s health, at all, or even result in advantageous traits. Mutations arise as a part of DNA replication and cell division, and have lead to evolution and diversification of organisms over billions of years.
The BRCA Journal is pleased to announce the launch of its "Innovative Guest" series. We will feature stories from our Young Investigator Awardees, genetic counselors, and leaders in the field of BRCA research and outreach. Our awardees will discuss their very own cutting-edge research that aims to prevent, diagnose, and cure BRCA cancers as early as possible.
"Please step back behind the sign," said the receptionist at the doctor’s office. Another person was being helped and I waited, obliviously, a bit too close behind her. I mumbled an apology and stepped back. Sure enough, there was a sign that read, "For the privacy of the patient ahead of you, please wait here."
"How do you envision a patient’s visit to a doctor in the future?" was my final question. I was interviewing Evan Goldberg, founder of the BRCA Foundation and a Silicon-Valley-big-data-guy, about the role of big data in cancer research and care. Doing phone interviews is something I never felt comfortable with. I was nervous but prepared, or so I thought. My questions were thoughtfully answered and the voice recorder application on my phone was turned on.
"What do you think of precision medicine?" my interviewer asked, as I stared blankly and nervously, not knowing what to answer. I’d never heard that term before. That was in 2015, at my first interview for a postdoctoral research position in the field of lung cancer. Squirming, I asked, "What do you mean by precision medicine?"
When I started listening to the BRCA Foundation’s Positive Perspectives podcast series and reading about BRCA mutations and cancer, I was overwhelmed with emotions. On one hand, the facts and statistics are daunting and worrisome; three in five women with BRCA mutations will develop breast cancer in their lifetime, compared to one in eight for the general population.
Advances in genetic testing have made knowledge of our risks for hereditary cancers more accessible and empowered us to be proactive about our healthcare. Genetic information such as whether one carries the BRCA mutation, however, can make us vulnerable to discrimination. Remarkably, it has been more than 10 years since the US government acknowledged this dilemma.
"All this money spent and they still don’t have a cure for cancer!” I heard the man sitting near me on Muni exclaim to his friend. I had just run out of my lab after starting an exciting new experiment and was looking forward to returning and continuing with the next step. But his comment made me feel both defeated and defensive.
Whatever did happen to the Cancer Moonshot Initiative?! This initiative was meant to accelerate cancer research and help scientists and clinicians make ten years’ worth of progress toward a cure in only five. But it recently occurred to me I didn’t really know much else about it or what happened after President Obama introduced it during his last State of the Union address two years ago.