Mutations Lurk 'In the Family': Genetic Issues

AT AGE 27, Joanna Rudnick took a test and found out that she had lost the genetic lottery: She inherited a mutation from her mom that means she has a 90 percent chance of developing breast cancer and a 40 percent chance of developing ovarian cancer — unless she opts for a double mastectomy and a hysterectomy, that is.

It's a tough piece of news to digest, and Rudnick was happy to keep it quiet while she dealt with the ramifications. But when the filmmaker decided to take on the topic in a documentary — a peek at the lives of women awaiting their test results, cheerfully showing off their post-masectomy boob jobs, gabbing about their sex lives and, in one case, dying — she realized she'd also have to turn the camera on herself.

"The decision was practical. I could not find a young woman who had not had children, not had surgery and was willing to talk about it," says Rudnick, now 34, whose documentary, "In the Family," premiered at the Silverdocs festival last month and will air on PBS in the fall.

She's back in town Thursday for another two screenings to coincide with Genetics Day on the Hill, an effort sponsored by the Genetic Alliance, a nonprofit committed to improving the lives of people with genetic conditions. "The crux of everything we do is in the film," says Sharon Terry, president and CEO of the Genetic Alliance.

Its name alone reflects the complicated nature of genetics research, in which a diagnosis resonates not just with one patient, but also with countless blood relatives. "You used to get lung cancer and feel badly for yourself. Now that we know there's a genetic component, you also feel badly for your child," Terry explains. "We all pass on 10 to 40 mutations. That's part of the package."

Also part of the package was the possibility of economic woes like lost health care, higher life insurance costs and job insecurity. Note the past tense, though — in May, President Bush signed into law the Genetic Information Non-Discrimination Act, or GINA (which Rudnick helped lobby for).

Terry sees GINA "as an on-ramp to the bigger benefits of genome research," as people become increasingly open to participating in clinical trials, scientists discover more genetic links and everyone can work toward healthier lives.

"We didn't do anything but inherit these genes from our parents. But we had a legitimate reason not to be tested," says Rudnick. "You greatly need screening and prevention. You want anyone to be able to have this information. It's their right to know this."

Of course, not everyone wants to think about the status of his or her BRCA1 gene, and the thought of understanding the genome so well that doctors can predict every terrible thing that might occur is some people's idea of a sci-fi nightmare.

But Terry believes that should be a personal decision, not a universal one. "Is it possible to have too much information? I don't think so," she says. "If we know I'm more disposed to diabetes and you know you're more disposed to heart disease, we can manage our health better."

Another burgeoning development is testing of embryos — as genetic problems are identified, parents can ensure that their children won't face the complex choices and devastating conditions of their forebears. "It's the next frontier," Rudnick says.

It's one that will affect pretty much everyone. Although "In the Family" is about a specific condition, both Terry and Rudnick see its reach extend far beyond that. "This is a new part of life. We all might find ourselves in the same situation, so we need to think about what this means," Rudnick says. "We have a major learning curve ahead of us."

And Rudnick still has a major decision to make: when to schedule her surgery.

Photo courtesy Kartemquin Films