How can we involve patients in the research that will affect their lives? Patient involvement is often limited to completing a questionnaire or donating a sample. Cancer previvor and patient advocate Andrea Downing is on a mission to change that. 

In 2013 the genetics of female cancer risk burst onto the public stage and into the public imagination. After discovering that a mutated BRCA1 gene gave her an 87% lifetime risk of developing breast cancer, actress Angelina Jolie opted to have a preventative double mastectomy operation. What followed was an unprecedented increase in BRCA gene testing, which Time magazine dubbed the “Angelina Effect”. Women around the world began investigating their genetic risks, taking positive and preventative steps and joining the ever-growing community of ‘Previvors’.

“The basic definition of ‘Previvor’ is a survivor of a genetic predisposition, or a carrier of a genetic mutation that is dangerous,” explains Andrea Downing. “Somebody who has something scary in their genome, which is me.”

Andrea is a writer a blogger and a self-styled ‘BRCActivist’ who campaigns for wider patient access to genomic data and for a bigger role for patients in the research process. “What I seek to do is be empowered through my own data and to make an impact on the future so that the future is better not only for myself but for my children, and for the next generation of people in my family.”

“What I want is very focussed: I want smarter options to screen for, treat and prevent cancer.”

Since her own BRCA positive diagnosis in 2006, Andrea has gone on to become a vocal member of the hereditary cancer community. Through her blog, Brave Bosom, she explores many of the issues facing both cancer patients and cancer previvors, from data-sharing to patient empowerment and involvement in research.

“I have a very strong history of cancer in my family,” explains Andrea. “My great grandmother passed away from cancer, though we can only speculate now on whether it was BRCA related or not as there was no genetic testing in her time. My grandmother had breast cancer in her forties and left behind six children. My mother was diagnosed with stage three breast cancer when she was in her early thirties.”

Both Andrea and her mother tested positive for a deleterious mutation of the BRCA1 gene, which confers an 85% lifetime risk of breast cancer and up to a 60% lifetime risk of ovarian cancer. “At the time no one really talked about BRCA as much, it wasn’t in the limelight in the way it is today,” Andrea remembers. “I felt that I was on this path and lost in the middle of nowhere trying to navigate decisions, and I was terrified. I was perfectly healthy, but didn’t know where to start or who to turn to for answers.”

What followed was six years of close surveillance. Twice a year Andrea would visit her doctors in New York for a mammogram, and MRI, the intention being to spot any tumors as early as possible. “In the process I also started to internalise this fear,” say Andrea. “I didn’t talk about it outwardly but hid it in the back of my mind until I had to deal with it every six months.”

“I went through these rushed appointments with doctors where I’d have my mammogram and MRI results and they wouldn’t really tell me much other than “You’re fine, you can go home”. I didn’t really have a sense of empowerment or curiosity about the information at that time.”

Andrea admits that around this time she was “in the closet” about her BRCA status. “I didn’t share it with people, I didn’t talk about it with people. I knew I was at high risk for these hereditary cancers but I felt like I was doing what I needed to do to stay on top of this by getting the mammograms and the MRIs regularly.”

Everything began to change in 2012, when Andrea and her husband moved from New York to Washington, DC. With new doctors came new, highly frustrating revelations. “It turns out that I have a really low likelihood of catching a tumor at an early stage with a mammogram,” explains Andrea. “It is much harder to detect breast cancer through screening mammography when you have high breast density.”

Angry and frustrated, Andrea decided to kick down the closet door. “I had immersed myself into this breast cancer awareness movement. I was wearing pink ribbons and got into this culture of breast cancer and fundraising and thinking that I was making an impact on finding better options for myself. But I started to read more about how far removed we were from the research, and I felt so frustrated and angry, and I was afraid.”

“I realised at that point that I had let this fear of my future seep into my own imagination of what my future was going be, and basically I was just waiting to get cancer.”

Brave Bosom was launched in 2012, and Andrea notes that as she started to share her story through her blog, she discovered a wider community of women dealing with the same issues. “I also found great organisations like Facing Our Risk of Cancer Empowered (FORCE). Back when I first tested positive I wasn’t really connected to those resources and once I found that connection something started to change, where I realised that this is part of my identity now. And being part of my identity is something that’s ok, and that I need to fight for as an advocate.”

2012 also marked the beginning of BRCA’s move into the limelight, as the issue of gene patenting made its way from Federal Court to the Supreme Court. “The company that tested me had a patent on BRCA1 and 2,” explains Andrea. “I didn’t understand what that meant and I started to read about it. I discovered that this patent was holding back research in a way that could be preventing people from finding better options for treatment, for finding targeted therapies. This didn’t sit well with me. And that was NOT okay.”

“I started to get a lot more involved, and luckily for me I lived in DC! Just by being in DC and showing up to events I found all these opportunities to get involved. Leading up to this huge case that could put an end to human gene patents, I started to write more about why gene patents to me are personal. On the day of the oral arguments I was on the steps of the Supreme Court holding up protest signs. I not only told my story but I co-organized a rally on those steps and was able to gather together with other empowered cancer advocates.”

On 13th June 2015 the Supreme Court ruled that naturally occurring genes could not be patented. “What a victory for the people! From that point on it was incredible what happened within the BRCA community,” says Andrea. “Things started to change really quickly. Sure, scientists and geneticists knew all about the human gene patenting issue it before it hit the headlines, but all of a sudden there was this rapid succession of exciting events. First this giant Supreme Court case, and not long after, while we were still anxiously waiting on the decision, Angeline Jolie made her public announcement of being BRCA positive and what she intended to do about it, which just led to this avalanche. It seemed like all of a sudden everybody was talking about the ‘breast cancer gene’.

Media catchphrases can be great for public awareness but, Andrea points out, can also have a damaging impact on understanding. “I dislike that name because BRCA is not just the ‘breast cancer gene’. It also affects men, which some people still don’t realize, and it increases other cancer risks. I think we hold ourselves back when we just say it’s just a ‘breast cancer gene. We also hold ourselves back when we say ‘I carry the gene’ because there are thousands of mutations on BRCA1 and BRCA2 alone, and we’re learning more about new cancer risk genes every day.”

In this newly energised and involved community, Andrea has begun to campaign for far greater patient engagement with research. “I want for patients to have a seat at the table, to be treated as partners in research and to be empowered by the information and not just in a way where we are research subjects. I want research to apply to us in a way that is accessible, that we can understand, that’s practical and meaningful, where we can actually ask the questions – no matter how basic those questions may be – and define what’s meaningful to us in our own language.”

Patient engagement is something of a buzzword at the moment, but often the relationship can be less than satisfying for the patients themselves. Andrea explains, “You can use the words ‘patient engagement’ and you can say that you are a partner and what ends up happening is that our community gets bombarded by requests for our data and we find ourselves answering the same questions over and over again for different researchers. When we answer them, and take part in surveys, these go off into the ether and we don’t know what happens next.”

But Andrea has a revolutionary idea for how to empower patients and involve them effectively in the research that will ultimately impact their lives. “What I want is a way for patients to own their own data and to push the dataset that they create to the researchers that they chose. Giving patients autonomy and ownership of their data is a much better model than what is in place currently.”

So what are Andrea’s calls to action for the research community? “We have choices to make about the future together,” she says. “I am asking a simple question: what are you doing to create the future with me together.”

“I’m on an exciting adventure and I want other people to feel that they are on this adventure along with us. I’d like to see the high risk hereditary cancer community not just cheering us on, but cheering with us, together, so that the research community and the wider public understand the uncertainty that we face. We also seek to be the heroes in our own stories.”