Free the Data

“Free the Data” is a grassroots movement to share genetic and medical information about BRCA+ mutations. I admit that I am reluctant to dive right into data sharing. I still feel a stigma from having a mutation. I have been surprised by how ashamed it makes me feel. Logically I know that I have nothing to be ashamed of, but it’s also hard to shake off these feelings when my body has been officially deemed aberrant by modern medicine. I oscillate between telling too many people about my BRCA+ status and hiding it. At this point, my BRCA+ diagnosis is still relatively new. I hope that eventually I will feel more comfortable talking about it publicly without a pseudonym. For now, I want to guard my privacy.

Thankfully, there’s a group of vocal BRCA+ women who are braver than I. Andrea over at Brave Bosom has been posting a lot about this, so go check out all the info she has gathered together.

Here’s a short video introducing the Free the Data movement:

And another much longer video of a symposium on BRCA+ data that was held at UVA Medical Center (the panel includes Joanna Rudnick). It’s well worth watching.

After doing some research on the Free the Data movement, I called Myriad Genetics to ask what they know about my specific mutation. The woman I spoke to was very nice and patient, but ultimately not helpful. I wanted to know how risk varies by mutation, but she claims that Myriad doesn’t keep track of variations in risk across mutation because the differences are negligible. I find that an unsatisfying answer. She also told me that the chances of a false positive are “extremely low” because Myriad runs the test twice and is reviewed two independent groups. I asked if there was any information that Myriad had on my mutation that she could share with me. She said no.

The one interesting thing that she told me is that 700 people have tested positive for my specific mutation. I know five of them are from my family, since we tested through Myriad back when they had a monopoly on testing. I wish I could say hello to the other 695 people. Thanks to founders effect, many of them are probably distant relatives. Galia has written about finding a cousin through online BRCA+ support groups. Having a BRCA mutation has very few upsides, but reconnecting with relatives would definitely be one of them.

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Joanna Rudnick’s In the Family

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I finally watched Joanna Rudnick’s documentary about being BRCA+, In the Family (2008). It is, obviously, required viewing for anyone with a BRCA mutation, but it’s hard to watch. I started to cry while the title credits began tracing out the cancers in Rudnick’s family and I didn’t stop until I had watched every bonus feature on the DVD.

The film begins with Rudnick’s horror at the idea of prophylactic surgery. She’s young and single; she wants to keep her breasts and ovaries until she can marry and have kids. As she begins to interview women with breast cancer, families with BRCA mutations, doctors, scientists, and various BRCA advocates, she seems to slowly realize that she ought to have a prophylactic mastectomy and oopherectomy. Still, as the film ends, she drags her feet.

I wanted to know what happened to Rudnick in the five years after the film’s premiere in 2008. After some quick googling, I found that she found a supportive partner, married, and had two daughters. Watching her film, it became clear to me what an important voice she is for the BRCA+ community. In it, Mary-Claire King tells two young women that they each have a BRCA mutation and she repeats several times that everything is going to be okay, that these women will not get breast cancer. Rudnick’s happiness–her supportive partner and chubby cheeked girls–gives me hope that King is indeed correct: that BRCA+ women are not doomed to repeat their foremothers’ experiences. Rudnick, it seems, has beaten the odds and so can we.

So I was disheartened to find that Rudnick was recently diagnosed with breast cancer at the age of 39. On a post over at the PBS blog, she writes: “The worst part about being diagnosed with breast cancer is knowing that I had the knowledge to prevent it.” After treatment, she had a double mastectomy. As she was recovering, Angelina Jolie’s NYT article was published.

In the Family captures the horrors of preventative surgery, but also provides strong arguments for the necessity of it. Rudnick interviews women with breast cancer who swear that if they could go back in time to have the prophylactic mastectomies and oopherectomies that they would in a heartbeat. But Rudnick herself is evidence that hindsight is 20/20: surgery provides the best protection for BRCA+ women, but many women don’t want to do it or can’t bring themselves to pull the trigger. And who can blame them?

I hope Rudnick is doing well. In making her film and speaking out about her experiences, she has done an incredible service for other BRCA+ women. She has sacrificed her own privacy to provide us with a glimpse into the everyday life of a BRCA mutation carrier. I am grateful to her.