Joanna Tested Positive for Breast Cancer Gene

At 27, filmmaker Joanna Rudnick held a piece of paper with devastating information: positive for a deleterious mutation. She had always suspected cancer ran in her family - her mother is a 20-year survivor of ovarian cancer, and her grandmother and great-grandmother both fought breast cancer. But after testing positive for the BRCA (breast cancer gene) mutation, she had evidence that she could be next.

"They give you the information and then they're like. 'Don't Panic. Don't be neurotic. Don't be paranoid.' But your body can go off at anytime, and that pressure starts right away."

How much would you sacrifice to survive? Filmmaker Joanna Rudnick knew the information could save her life. And she knew she was not only confronting mortality at an early age, but also was going to have to make heart-wrenching decisions about the life that lay ahead of her. Should she take the irreversible preventive step of having her breasts and ovaries removed or risk developing cancer? What would happen to her romantic life, her hopes for a family?

Since starting to get to know Joanna we have learned she is expecting her first baby in the Spring!

As a science journalist and documentary filmmaker, Joanna did the one thing that made sense - set out to make a documentary exploring how the mutation was changing her life, while reaching out to other women and families caught up in the same confusing decision-making process.

Turning the video camera on herself, she bares her soul and confronts her deepest anxieties. Turning the video camera on her doctors' appointments, she takes us inside a barrage of invasive screening tests that could reveal her worst fears. Turning the video camera on her new relationship, she and her partner intimately capture a young couple falling in love in the shadow of the mutation.

Click on Inthefamilyfilm.com to learn more about Joanna’s BRCA experiences and work on behalf of women everywhere and to get them focusing on 10 key themes:

1. Genetic information about hereditary cancer is life-saving information, because early detection or surgery to prevent cancer is key to long-term survival.

2. Knowing your family history of cancer is a powerful tool against the disease. Yet, there are many barriers to talking about cancer and disease within families. Families need tools to overcome painful memories and the stigma associated with past disease.

3. Genetic information is not purely medical or scientific; it has real psychological consequences for the individual. There needs to be more support services designed to help individuals deal with this potentially devastating information.

4. For all the advances in genetic medicine, high-risk women still have limited options to avoid cancer. They can prophylactically remove breasts and ovaries before they become cancerous (surgery) or participate in frequent early-detection screenings (surveillance).

5. These decisions deeply impact relationships, career, sexuality, and fertility – decisions at the core of what it means to be a woman.

6. There are no easy answers, and no easy decisions. All women should be supported throughout the decision-making process to determine what is the right course of action for them. We also need to support the right of women and families not to know.

7. Although BRCA mutations occur in every ethnicity, some populations are more vulnerable than others. An estimated 1 out of 40 individuals from Ashkenazi descent are carriers, and they have recently discovered increased rates of the BRCA1 mutation in Hispanic, and young African-American women. Yet, studies show that African-American women are 5 less likely to be referred for testing.

8. The BRCA test currently costs $3000, and all research and testing are controlled exclusively by the company that owns the patent to the BRCA genes – thus limiting access to testing for underinsured and uninsured women.

9. Genetic Counseling should be a critical component of any genetic testing experience. Yet, genetic counselors are not billable health care providers, and Myriad Genetics is trying to train oncology nurses and primary care physicians to administer the test.

10. After 12 years of wide bipartisan support, the cracking of the Human Genome, and multiple new gene tests and personalized medicine, the Genetic Information Non-Discrimination Act (GINA) was finally passed into law on May 20, 2008!

DNA Testing will be included as part of our upcoming Garden State Woman Health Conference in April 2011.