When 33-year-old Joanna Rudnick found out she had genetic mutation that gave her an extremely high risk of developing breast cancer and ovarian cancer, the risk was not all she was scared about.
"My biggest fear when I found out I was positive was, ‘How am I ever going to tell this to a partner?’" Rudnick said.
So she documented her experience navigating through a new relationship while faced with the decision of whether or when to surgically remove her breasts and ovaries.
The result was a 90-minute documentary titled "In the Family," in which Rudnick highlights the public and private implications of genetic testing.It will air on PBS Oct. 7.
"The reason I made the film is to get all of us talking to show this isn’t easy information when you come home," Rudnick said. "I have to live with it."
And it’s a potentially life-changing message that many more Americans may choose to live with since President Bush signed the Genetic Information Nondiscrimination Act into law last week.
The law is designed protect Americans against gene-based discrimination by health insurance companies and their employers.
That protection may encourage individuals to take advantage of genetic testing as a part of their normal health care.
"It's amazing," said Cathy Wicklund, director of the graduate program in genetic counseling at Northwestern University and a genetic counselor herself.
"It's been 13 years since we've been trying to get this bill passed and I think people now are going to be less fearful about having genetic testing and less fearful about getting involved in research too."
"With this landmark bipartisan legislation," stated Karen Ignagni, president and CEO of America’s Health Insurance Plans. "Congress and the President have taken strong action to prohibit discrimination based on a person's genetic makeup and to protect patients' privacy as they pursue genetic evaluations. This legislation also ensures that patients can continue to benefit from health plans' innovative early detection and care coordination programs that improve the safety and quality of care."
The insurance industry did not oppose the legislation.
But that quality of care may carry a heavy price. If you include the cost of genetic counseling, some of the of tests, such as the BRACAnalysis, which tests for BRCA-1 and BRCA-2 mutations that lead to breast and ovarian cancer, reach upwards of $3,000.
That amount "is actually on the expensive side," Wicklund said.
"So when you hear about the $3,000, it is more expensive than a lot of other genetic tests. Some will range from $200 to $500. So some are more reasonable. Really though, the issue is whether or not their insurance will cover it."
That, the experts say, may depend on whether a person's forebears had an ailment or defect that might be inherited, making a genetic test appropriate.
But it’s not just people wanting genetic testing who will benefit from this law. UBS analyst Annabel Samimy sees it as "positive" for biopharmaceutical company Myriad Genetics Inc., the Utah-based company that patented the genetic testing for the BRCA gene mutation Rudnick has.
"I do think this is actually a positive development for them," said Samimy. "Whether it hits them immediately or effects them immediately or takes some time to trickle through, I think that’s sort of up in the air a little bit."
Myriad already is doing "phenomenally well," according to Samimy. Driven by increased higher diagnostic sales, revenues in the company’s fiscal third quarter ended March 31 rose 51 percent to $61.8 million from $41 million.
However, the company still spends outsize amounts, $31 million in the quarter, on cancer, AIDS and Alzheimer's disease drug research and development and so isn't yet profitable. In the March quarter it posted a narrowed loss of $4.6 million, or 10 cents per diluted share, compared with a loss of $5.9 million, or 14 cents per diluted share, in the year-earlier period.
"They’re moving into a market where they’re targeting women who are asymptomatic but have a clear history of breast cancer in their family," said Samimy. "And that’s what they’re doing with their new focus on OBGYN. And that’s a pretty large market opportunity for them."
But Rudnick, when asked about Myriad’s patent, said: "Myriad is missing certain mutations and missing some women. Women were actually getting negatives when they actually were positives. But because they have the patent, they are the only people putting the test out, so there’s no competition for a better test."
Phone calls to Myriad were not returned.
Experts warn that because certain gene mutations that may increase cancer risk have yet to be found, the decision to get a genetic test should be discussed with a physician.
"It’s really critical to see someone who can take a good family history to see if you are a candidate for this testing," said Wicklund. "What happens is, sometimes people will go to a primary care physician and they might do this BRCA-1 or BRCA-2 test and it might come back normal and then that person thinks ‘Oh great. Now I don’t carry that gene, I’m not at risk for breast cancer.’ [But] it could be that they still have hereditary breast cancer in their family, but it’s not particularly that gene."
Dealing with the test results is another topic the experts recommend thinking about before testing and where Rudnick’s documentary could help individuals with their decision.
"We as physicians and genetic counselors, we support the patient in finding a decision but we forget sometimes what’s happening afterwards. I think this film is a beautiful illustration of how one is torn," said Peter Kopp, interim director of the Center for Genetic Medicine at Northwestern University.
"This is not a black and white decision. There are so many grays. And I think that’s the reality so many people are facing when provided with this type of information."
Rudnick agrees. She hopes the film offers support.
"This is an individual choice and whether or not you decide to get genetic testing…no matter what you should be supported so we can walk into this new frontier in medicine together."
Some currently-available DNA tests:
*Alzheimer's disease (APOE test) Late onset of senile dementia.
*Cystic Fibrosis (CF) Lung and pancreas disease with mucous accumulations and chronic infections.
*Hemophilia A and B (HEMA and HEMB) Blood disorder.
*Huntington's disease (HD) Degenerative and deadly neurological disease.
*Adult Polycystic Kidney disease (APKD) Liver disease and kidney failure.
*Sickle cell disease (SS) Blood cell disorder with chronic pain and infections.
*Tay-Sachs disease (TS) Fatal early childhood neurological disease.