Watch The New York Times documentary The Nipple Artist, about a woman’s journey to recapture her sense of self after a marathon of surgeries, chemotherapy and other treatments.
This post from In the Family filmmaker Joanna Rudnick was first published on POV’s Documentary Blog in 2013. The film follows Rudnick after she tested positive for the BRCA1 mutation, “the breast cancer gene” at age 27 and was forced to make heart-wrenching decisions about the life that lay ahead of her. In the Family is streaming free through July 1, 2014.
The worst part about being diagnosed with breast cancer is knowing that I had the knowledge to prevent it.
I spent much of my late 20s and early 30s defined by BRCA1, the genetic mutation that gave me an up to 87% lifetime risk of developing breast cancer and an up to 60% lifetime chance of developing ovarian cancer, which I feared even more since my mother was diagnosed with the disease in her early 40s when I was pre-teen.
As a storyteller, the only way I knew how to cope with the enormity of the identity shift out of the carefree world of the healthy into the purgatory of the potentially unwell, was to make the documentary In the Family.
Nearly five years after the release of the film on POV in October 2008, I have just finished up my last chemo, enduring 11 infusions, two blood transfusions and too many days laid up in bed listening to the sounds of my little girls giggling, at times too weak to jump up and see their little faces and squeeze them once more before bed.
Why did this happen to me when I knew how high the stakes were? I was waiting. Waiting to find the right person to launch a life with who would get what was in store for him by linking up with me. I found him and he’s amazing (he has slept less than is humanly possible these last few months). We got hitched, had 2 beautiful girls as fast as we possibly could. There were no pauses. I remember calling Luis Pedraza from In the Family on my 38th birthday, proudly announcing that I was about to give birth to my second girl and get my ovaries out, just as I’d promised him in the last scene in the film.
As part of our recent move to the Bay Area, I started scheduling appointments to meet doctors who could perform my prophylactic mastectomy and hysterectomy. I had the first of these set a few weeks after we arrived. But just three days after opening the door on our new home, I felt a lump while I was breastfeeding my nearly 3-month-old. I was subsequently diagnosed with an early-stage breast cancer.
One day after my last chemo and exactly one month before a bilateral mastectomy that’s been 12 years in the making, why I am writing about this rather than sleeping off the drugs as they work their way through my system? I don’t want my daughters to have to go through what I’m going through. (Heck, I’m taking some of the same drugs my mom took!) I don’t want them to have to rush their dreams. And I certainly don’t want their only solution to be removing body parts.
I strongly believe, as I did over a decade ago when I first conceived this film, that one of the barriers to finding better answers are the patents on the BRCA1 and BRCA2 genes held by Myriad Genetics.
This is why we worked so hard to get in the door at Myriad’s headquarters in Salt Lake City. Martha Haley, one of the film’s stars, who had survived three bouts with breast cancer (it has now been 17 years since her fist diagnosis) wanted to find out if BRCA caused her disease. She had to go through an Avon-funded special assistance program at County Hospital in Chicago due to lack of insurance coverage. Her test results came back with a “variant of uncertain significance.” This is a common result among minority women because only a fraction of them have been tested for BRCA and we just don’t have the data to come up with definitive results.
If other scientists were working in tandem with Myriad to solve these issues, if they had access to Myriad’s wealth of proprietary data on the genes, would we have better answers? That’s the question that gnawed away at me as we approached Myriad’s impressive campus for my laboratory tour and interview with its founder, Mark Skolnick.
One of the first things we filmed on the snowy morning when we arrived in February 2007 was the first FedEx delivery of the morning, hundreds of samples of BRCAnalysis® tests. At the time, Myriad was getting around 350 samples a day, with a cost of $3000 per test for the customer.
Later that day, Skolnick walked me past a wall of patents. I said to him, “So the most controversial patent would be the composition of use patent.” He cut me off, smirked and said, “There’s no controversial patent. It’s all very easy to understand if you take the time.”
But I did take the time and so did all of the plaintiffs that filed suit against Myriad Genetics two years later, represented by the ACLU and the Public Patent Foundation in the case “The Association for Molecular Pathology v. Myriad Genetics,” challenging the very notion that human genes are patentable and laying out the consequences of the BRCA patents on patients, scientists and physicians (who make up the long list of plaintiffs in the case).
I asked Skolnick point blank, “What if Watson and Crick had patented the DNA molecule?” He looked at me as if I had asked a ludicrous question and then proceeded to tell me that people aren’t upset about having patents for their iPods. Can human DNA be compared to iPods? Did Myriad create the BRCA genes the same way Apple created iPods? In an amicus brief written by Dr. James Watson in support of the ACLU, he refers to patenting genes as “lunacy.” He expands, “I believed at the time [in 1953, when they discovered the double helix] – and continue to believe – that the issue of patenting human genes went to the very crux of whether the information encoded by human DNA should be freely available to the scientific community.”
Four years after bringing the case to a district court in the New York for its maiden hearing, followed by a series of verdicts and appeals, the Supreme Court is finally ready to hear the arguments and make a definitive decision on the central question, “Are human genes patentable?”
For those of you wondering what’s at stake, think of all of the women who are uninsured and underinsured who can’t afford a $3,400 test (yes, the cost has gone up even though Mark Skolnick admitted to me on camera that “there’s a point at which we have to start looking at decreasing the cost of the test”). Think of the woman who got a negative test result and then developed ovarian cancer because Myriad’s test was missing mutations and there was no way to get a second opinion or take a more comprehensive test. Think of the scientists who have gotten cease-and-desist letters who want to do research on BRCA that involves testing. Think of the woman who is diagnosed with breast cancer and has to wait weeks (when she doesn’t have the time) to find out her mutation status to decide what type of surgery to have (What if she could have the test performed quickly at her institution?). And think of all of the private information that Myriad has on our genes that is not in the public domain helping us find better preventatives and therapeutics.
As Dr. Mary-Claire King, the scientist who first linked hereditary breast cancer to genetics told me in In the Family, “Everyone has genetic mutations, yours is in a gene we know about.” The ACLU challenge on the BRCA patents affects all of us who want to benefit from genomic medicine and want nothing standing in our way.
In the Family is streaming free through July 1, 2014.
Update: The cost of the BRCAnalysis® tests is more expensive than what is originally reported below, going up $1000 (as noted here on the FORCE website) since Myriad Founder Mark Skolnick told Joanna Rudnick in In the Family that it was time to think about decreasing the cost of the test.