The field of genetics is rapidly expanding and becoming a centerpiece of the modern healthcare experience. Hereditary cancer genes, like BRCA1 and BRCA2, are now household terms, thanks to considerable efforts to raise awareness. Unfortunately, most of the data available to help interpret testing for these and other genes comes almost exclusively from Caucasian individuals of European ancestry. Why? What problems does this cause? And how can things change?
My name is Dena Goldberg and I'm a genetic counselor at the University of California, San Francisco, who specializes in cancer genetics. I see patients and their relatives with a personal or family history of cancer, tumors, or polyps, and use their history to determine the most appropriate genetic test.
Over the course of my BRCA Journal posts, I have highlighted emerging technologies and highly tailored therapeutics. These exciting innovations have the potential to change the way cancer is studied and treated. While they advance the trend of personalized medicine, they currently only benefit a small portion of cancer patients.
In my final few posts, I will focus on the future of cancer treatment. Over the course of my series of posts, I discussed what scientists have learned about the genetic basis of disease, how these findings have led to the development of targeted therapies, and how the sequencing revolution has enabled the personalization of these therapies.
Many of the topics I have discussed in my posts have mentioned using DNA sequencing to both distinguish cancers and curate treatments. While interpretations of data obtained from DNA sequencing are often highlighted in the news, the methods behind how this process works and is analyzed can be a mystery to non-scientists.
Over the previous two articles, I explained how different types of immunotherapies target and kill cancers. While a variety of these therapies utilize the homing proteins, antibodies, and antigen receptors our bodies create naturally, they use different mechanisms to target and eliminate cancer.
This article will explore a revolutionary new type of immunotherapy that takes advantage of our adaptive immune system to fight cancer, called CAR T cell therapy. The adaptive immune system, similar to Navy SEAL special forces, takes time to train and mount highly specialized attacks against pathogens in our bodies.
Throughout my first few articles, beginning April 11, I discussed how alterations at the DNA level can at times cause cells to evade normal regulation, as well as their own death, and become cancerous. Scientists, however, have learned how to exploit some of these genetic differences in order to develop cancer therapies such as PARP inhibitors.
The BRCA1 and BRCA2 genes are the two most commonly mutated and prominent genes linked to breast cancer susceptibility. Strong links between specific mutations and increased risk for the development of breast cancer have made BRCA1 and BRCA2 ideal targets for genetic testing.
The names of the BRCA1 and BRCA2 genes indicate their importance in the development of breast cancer. While women with mutations in either the BRCA1 or BRCA2 genes are at highest risk for breast cancer, other types of cancers also arise as a result of these mutations.
"The cure for cancer" has long been a hot topic in science, politics and the media. It is one of those phrases, however, that as a scientist frustrates me because cancer is not just one disease. The recent pushes toward precision medicine and to understand the diverse landscape of cancers have reinforced this idea that every cancer is unique.
Happy DNA Day! Celebrated on April 25th, DNA Day commemorates both the discovery of the structure of DNA in 1953 and the completion of the Human Genome Project in 2003. Since its designation in 2003, DNA Day has been used to increase public understanding of DNA and the scientific advances that have been made as a result of these two events.
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.