This powerful, intimate documentary follows Joanna Rudnick, a documentary filmmaker trained as a science journalist, who comes from an extraordinary family. Her maternal grandmother was diagnosed with breast cancer at age 56. Her mother was diagnosed with, and survived, ovarian cancer at age 44. When her sister, who works as a mammographer, learned of the availability of a genetic test for familial breast and ovarian cancer (the BRCA1 and BRCA2 genes), she encouraged Joanna to get the test at age 27. Joanna relates in the film that she was just not ready to deal with the answer at that age, and describes the day that she and her mother met with a genetic counselor to get her test results. She found out that she carried the risk allele, and had at least an 85% lifetime chance of developing breast cancer, and about a 40% lifetime chance of developing ovarian cancer.
Joanna begins to make this film as a way of dealing with the news and with decisions about her life at age 31. She gives us extraordinary access to her life and her feelings. We meet her new boyfriend Jimmy, who after their first date, looks her up on the internet and learns of her documentary project, and also of her BRCA1 genotype. Joanna really wants to have children, and has to decide fairly quickly whether Jimmy is the right guy. He gets very involved in the documentary process and in dealing with her health status.
Joanna's choices are stark. She can choose to have a prophylactic mastectomy and oophorectomy. This will reduce her risk of cancer due to BRCA1 to essentially zero. We learn as she meets with other patients who are members of support groups that this is a profoundly life-changing event that many women and their partners have found challenging. Joanna can also choose regular health monitoring on a more frequent schedule than women not at risk due to their BRCA genotype. She initially chooses monitoring, and shows footage of herself getting her checkups, discussing the results with her doctors, and talking about it all with her boyfriend.
Joanna makes a pilgrimage to Seattle, to meet with Dr. Mary-Claire King at the University of Washington. Dr. King is the leader of the group that went on a sixteen-year quest to track down the first gene found to be responsible for familial breast and ovarian cancer, BRCA1. Dr. King narrates an animated segment that explains the basic genetics of BRCA1. She also attempts to ease Joanna's burden of explaining to people that she has a genetic mutation: "You can start by saying that everybody has genetic mutations. Yours is just in a gene that we know about."
In one of the film's many powerful sequences, we actually see Dr. King and a genetic counselor report the results of BRCA1 testing to the Hanke family. Mrs. Hanke, a cancer survivor, tested positive for a risk allele of BRCA1. Her three daughters arranged to get tested through Dr. King's lab. Joanna Rudnick has dinner with the Hanke family the day before the three daughters get their results, filming their conversations about how they will deal with the answers. The next day, we are there when Dr. King and a genetic counselor report the results. Two of the daughters carry the risk allele, and one does not. There are tears all around, including from Dr. King, who explains, "I've been doing this for 34 years and I still cry."
One of the patients that Joanna has met through the support groups learns that she has terminal cancer. We see her and her family dealing with it, including at her funeral. Another woman at risk of inheriting a BRCA1 risk allele finds that she did not inherit the risk allele, and that her young daughter is not at risk. We see women at a conference organized by the support group, learning about the science and the treatment options, including improved nipple-sparing prophylactic mastectomies and reconstructions. Survivors show off their results, even going so far as to pose for a risqué calendar shoot that celebrates their courage.
Joanna's exploration of the problem takes her to an African-American community in Chicago, where we learn that African-American women are five times less likely to be referred for screening. One of the breast cancer survivors that Joanna has met through the support group is Martha Haley, who we see doing outreach in the African-American community to increase screening. Martha's sister refuses to be tested for BRCA1, attributing it to cultural factors. In the African-American community, she explains, you have enough stuff to deal with that you don't need to go seeking out more stuff. The Tuskegee Syphilis Study comes up in group discussion; African-Americans are reluctant to be involved in clinical studies because of the long shadow cast by this shameful episode of American medical history. Martha Haley works as an unpaid volunteer helping breast cancer survivors being fitted with prostheses, having lost her job earlier and gone through difficulties during her treatment until she became eligible for public benefits.
At the other end of the economic scale, we see Dr. Mark Scolnick at Myriad Genetics, holder of the patent for BRCA1 testing. Myriad Genetics, at the time, controlled all commercial testing, with the cost of screening being $3,000 per patient. Parts of the company's patents were declared invalid in 2010, after the film was made. The area of patents on human genes and processes based on them is still evolving.
Joanna becomes involved in the public policy fight over genetic testing, and is present in 2008 during final hearings on the thirteen-year effort to pass the Genetic Information Nondiscrimination ACt (GINA), which was signed into law just after the completion of the film.
In the end, Joanna and Jimmy break up. They talk on camera after the breakup. At the funeral of Linda Pedraze, Linda's widower Luis makes Joanna promise to stay in touch. Joanna says that she has decided to have the surgeries a bit later. Luis says that he will call her to make sure, and that he won't take no for an answer.
The biology content in this documentary is painstakingly accurate. We get the explanation of the inheritance of BRCA1 from Dr. Mary-Claire King, who led the team that discovered the gene. We see several genetic counselors present results to patients and explain the risks and treatment options. We see practicing physicians examining and talking to patients. We learn from cancer survivors about their experiences.
Joanna Rudnick is a trained science journalist who has a deep personal stake in this story. Her commitment to openness and her ability to get others to share their lives makes this the standard against which other documentaries should be judged.
"I have never seen a film that revealed the human side of the new genetics more compellingly."
-Francis S. Collins, M.D., Ph.D., former Director of the Human Genome Project, current Director of the National Institutes of Health
Sometimes you just have to go with the quotes on the DVD box. We are not going to argue with Francis Collins on this one.
Because we are committed to science, we can't just stand on authority here. Here are some of the ELSI issues explored in this powerful documentary.
To Test or Not to Test? We see the full range of opinions on the subject here. We see women who are at risk of inheriting a risk allele of BRCA1 who say that they will have their health monitored, but will never be genetically tested. We see women who leap at the opportunity for testing, and others who are passively shoved into it. We meet a couple of "BRCA boys," men who have been tested because they have affected sisters. These men discuss disclosing their genetic status to potential marriage partners, because their daughters will be at risk. While it might be educational to hear a panel of experts discuss this issue, there is nothing like having Joanna Rudnick take us directly into people's lives, where they can speak for themselves.
Guilt. We see many aspects of guilt in this film. Mothers feel guilty that they have passed on the risk allele to daughters, even though at the time, they were unaware that they carried a risk allele. We see unaffected sisters of women who have inherited a risk allele express guilt that they were spared. We see women who did not opt for early, aggressive treatment express guilt that they are going to burden their families with their untimely "preventable" deaths. We know that these feelings are not entirely rational, as the inheritance of a risk allele is due entirely to chance, and several people express that understanding, even as they experience the guilt.
Taking Action or Monitoring? This is a very tough choice. Early treatment by prophylactic surgery will affect a patient's quality of life and relationships. Monitoring may not be completely effective at spotting cancer early enough. Again, the film does not offer firm answers, but gives us the voices of many women who have made different decisions.
Health Care Disparities. American society has disparities of opportunity that manifest as disparities in income and disparities in health care. We see these directly in this film.
The DVD has bonus features that direct the viewer to web-based resources on genetics. There are also PDFs including a Discussion Guide, Genetics FAQ, and Understanding GINA (the Genetic Information Nondiscrimination Act). This inexpensive DVD ($13 on Amazon.com) is a valuable resource for families with a history of breast cancer, and for educators and students exploring the implications of genetic testing for BRCA1 and BRCA2, or indeed testing for any inherited disorder.
1. Website for In the Family (recommended)
2. OMIM entries on BRCA1 and BRCA2.