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GINA:1 RH Opener 2/28/09 12:44 AM Page 15 "I was terrified I'd be dropped by my insurance. I was so afraid [they] would say, 'You're uninsurable' that I kept it out of all my medical records and had to really fight to get the preventive care I needed." —JOANNA RUDNIC K November, White-Perpich and her fellow genetic counselors shouldn't need to keep secret patient files because, under a law that President George W. Bush signed in May 2008, people's genetic code can't be used to discriminate against them. Sen. Ted Kennedy hailed the law, called the Genetic Information Nondiscrimination Act (or GINA), as "the first major new civil rights bill of the new century." Supporters see the law as potentially ushering in a new age of medicine, imagining a world in which practitioners can harness breakthroughs and understand a person's genetic makeup to create truly personalized care plans, saving their patients from the pain and suffering caused by some of the country's most common illnesses. But while the law offers promise, it also endured a 13-year legislative battle that some say left its ideals in place but its enforcement capacity battered. And after eight years of the Bush administration, the agencies charged with regulating employers and health insurers are hobbled as well. So though the law Because Joanna may be the most airtight healthcare discrimiRudnick discovered nation law ever passed, observers worry that it through genetic testing could be nothing more than a feel-good platithat she carries certain tude from a lame-duck president. disease markers, she "It will raise an interesting question," said receives routine MRIs Karen Pollitz, director of the Health Policy as part of surveillance Institute at Georgetown University. "What for breast and ovarian happens if you throw a law and no one comes?" cancer. enetic medicine has taken off only in recent decades. In the 1950s, researchers sought to confirm obscure and inheritable illnesses through what they then knew of the genetic code. Those tests were limited to single-gene mutation illnesses or chromosomal disorders, such as sickle-cell anemia or Down syndrome. But in 1990, the National Institutes of Health and the U.S. Department of Energy began a vast undertaking: They aimed to sequence all 20,000 to 25,000 genes on the human genome, to discover mutations, and spur new research. Then the field broke open. In 1995, NIH scientists discovered specific alterations in the genetic code associated with breast and ovarian cancer. Suddenly, genetic testing went from a rare endeavor to a potential savior for thousands of women and some men diagnosed with the disease every year. "For a long time with GINA, lawmakers thought it was a solution in search of a problem," said Joann Boughman, executive vice president of the American Society for Human Genetics, a professional organization for geneticists. "But a lot changed their mind when they discovered the BRCA [breast cancer] genes. Just about everyone knows someone with breast cancer." JANUARY | FEBRUARY 2009 Today, 4.1 million newborns receive genetic tests for up to 28 genetic diseases, and thousands of adults every year get genetic tests to determine everything from whether one is a carrier for hemophilia to whether one carries the gene that increases risk for Alzheimer's disease. Others are tested to confirm medical diagnoses. But genetic medicine and genetic testing are tricky undertakings fraught with ethical dilemmas. While science has now uncovered up to 900 genetic abnormalities that could lead to medical conditions, scientists haven't developed cures or treatments for all of those disorders. So it may not always be in a patient's best interest to get tested, said White-Perpich. It also may not be in the best interests of the patient to keep information that is relevant to her care out of her permanent medical file. The Council for Responsible Genetics worries about such "predictive" genetic tests because its members aren't sure the benefits outweigh the potential stigma associated with knowing you may develop a disease. Likewise, simply having a genetic mutation is not a guarantee of illness. For instance, this year, the National Cancer Institute at the National Institutes of Health expects 192,000 American women to be diagnosed with breast cancer. Only about 5 to 10 percent of those women will carry the BRCA 1 or 2 mutations. And not all women with the mutation will develop breast cancer. For Joanna Rudnick, learning she had the BRCA1 gene mutation seven years ago didn't seem to change her life terribly at first. She got the test after her sister, who'd already been tested, suggested it. She and her sister didn't think there was much chance they would have it even though their mother had ovarian cancer at 43. They didn't see it elsewhere in their family tree, and just wanted to confirm their assumption. Later, they both discovered what no one of her mother's or grandmother's generation talked about: Ovarian cancer was all over her family tree, on both sides of the family, as well as later-onset breast cancer on her mother's side of the family. Rudnick is also Ashkenazi Jewish, a group that's genetically predisposed to such mutations. Then the test results came back: positive. "When I first found out, it felt extremely stigmatizing, very isolating," said Rudnick, a Chicago native and documentary filmmaker. She didn't talk about it. She kept the news in a "separate corner" of her mind. She didn't really confront what it meant for her until she started a documentary on other people who had also tested positive for the gene mutation. They call themselves "previvors," she said: people who are facing the risk of cancer every day. For Rudnick, that has meant she takes her body in for a heavy rotation of medical tests every six months: twice-yearly transvaginal ultrasounds to observe her ovaries and breast MRIs to check for lumps. She hopes that by being vigilant she can catch any cancer in its W W W. C A L N U R S E S . O R G REGISTERED NURSE 15