After stalling in Congress for more than a decade, a bill that bans discrimination on the basis of a person’s genes won approval on May 1. President Bush is expected to sign it this week. Known by the acronym GINA, the Genetic Information Nondiscrimination Act bars employers and health insurers from penalizing people for flaws or disease risks revealed by genetic testing. It also protects information gleaned through the lowest-tech of all gene tests, a family history of disease. It does not, however, prohibit life insurance or disability insurance companies from taking genetic information into account in coverage decisions. The Globe’s Carey Goldberg asked several local experts from various spheres to comment on what GINA's passage means for the public:
Dr. David Altshuler, director of medical and population genetics at the Broad Institute
"It's historic and extremely important that people will no longer have to worry that their genetic information will be used against them in fundamental aspects of life - employment and healthcare.
A lot of people were afraid of getting important and legitimate genetic tests. There are genetic tests that are lifesaving in certain settings, and those are precisely the ones where people have the most concern about privacy because the information is so powerful.
An example: Testing for the BRCA gene in breast cancer. It has been shown that if a woman with a high-risk of mutation chooses to have her ovaries and breasts removed, her risk of dying is reduced by 90 percent. That's lifesaving. And obviously, if you don't have the mutation you would never have that surgery. Yet in a family known to carry the BRCA gene, someone might be afraid to get testing. Now, people in that setting can go ahead and do what's right for their health and not have to worry about discrimination.
The question the public should ask about genetic information is, "Will knowing this benefit me?" If the answer is yes. I'd say, "Go for it," and I think that's a personal choice. The good news is, with GINA and access to this information, in this free country in which we live, you will get to make your own choice."
Dr. Marylou Buyse, president of the Massachusetts Association of Health Plans
"Massachusetts already has a Genetic Nondiscrimination Law for health insurance coverage and a number of other state laws provide assurances that individuals will not face discrimination for purposes of insurance coverage. But GINA will provide people with the peace of mind to know that their genetic information can't be misused. It will help to promote informed healthcare decision-making by patients and their doctors and will allow patients continued access to state-of-the art health insurance plan programs that support early prevention and coordination of care.
If an individual knows that they are at risk for a particular condition based on their genetic information, health plans can provide coverage for preventive treatments much earlier.
We hope that people understand their genetic information and the importance of disclosing it with their provider. . . . This legislation should reassure them that it is OK to disclose this information and that it will be used appropriately.
Carrie Catlin, of Facing Our Risk of Cancer Empowered, a nonprofit organization for women with increased risk of breast and ovarian cancer
(Catlin is a "previvor" - she has not had cancer but tested positive for the BRCA mutation and had her breasts and ovaries surgically removed to cut her risk of cancer.)
With the passage of GINA, more people will pursue genetic testing. Discrimination is the number one reason why people who want to know their genetic status choose not to be tested. Plus, hundreds of thousands of individuals and families who have tested positive will be reassured that protection exists for them.
Also, a uniform federal law will eliminate the current confusion across states. It is difficult to guide individuals in their decision-making while navigating through the intricacies of different state laws.
What remains to be done:
Access to affordable healthcare for everyone. For example, the BRCA test is expensive - it costs $3,000-$4,000 for the first person in a family to be tested (subsequent tests are in the $300 -$400 range)."
Dr. Raju Kucherlapati, director of the Harvard Medical School-Partners Center for Genetics and Genomics
"I believe that we need to move from treating disease to preventing disease. To prevent disease it is important to know who is at high risk for disease. Family history and genetic/genomic testing have the ability to . . . identify people at increased risk for specific disorders and be able to intervene. If such intervention is successful it could transform the health of our entire population."
Bob Coughlin, president and CEO of the Massachusetts Biotechnology Council
"My wife and I are both carriers of the cystic fibrosis mutation, and we have a beautiful 6-year-old son who has cystic fibrosis, along with two older children who do not have it. We underwent genetic testing so we could be part of the process to cure this disease, and I would hate to think it could keep my wife or me from getting insurance or a job in the future.
Genetic testing is a very touchy subject, and it's something that should only be done if there's a compelling reason. And it should be done in collaboration with a genetic counselor and a physician. It's a very personal decision.
People who are against profiling or discrimination of any sort should see this as a huge step for those who are suffering from potential illness."
