He suspected that something was seriously wrong with his wife, medically. She was behaving in an extremely erratic and not-like-herself fashion. It seemed she had changed mentally and physically.
He wondered if she had Huntington's disease, like her dad.
As much as they both wanted to know what was going on, they were afraid to find out or even seek treatment until they figured out the potential ramifications of getting such a diagnosis.
Huntington's is inherited. And that raised the ugly specter of potential genetic discrimination.
They really didn't feel safe having the test; there were too many worries about who could get the information to use it against them or against their children, who might or might not later prove to have the gene. If she tested positive, could he get health insurance or life insurance for their kids? Would they be able to get their own policies later, as adults? What about jobs? Perhaps he should arrange long-term care she might need, before finding out. And who else could learn the results of her test and how could it be used? Ugh. So many questions, their answers all murky.
Worry about genetic discrimination has been a huge issue for thousands of people who have a family history of illnesses that can now be tested for, from a specific gene that increases the risk of breast cancer to something like Huntington's. Some genetic tests show an inherited predisposition toward certain diseases; with other diseases, presence of a specific gene is an assurance of the disease at some point. So the fear has loomed large that insurance companies or employers would use gene testing in making decisions on who to cover or hire.
Consequently, families and individuals have wrestled hard with whether to find out genetic information, even if it that might help them prepare for their futures and in some cases change them.
This week, after more than a decade of considering the issue, legislation passed by Congress that prohibits health insurance companies and employers from discriminating against individuals based on genetic information has been signed into law. It will take effect in 18 months.
The law doesn't resolve all the worries. It does not, for instance, prevent discrimination in life insurance underwriting, one of the man's primary concerns. But proponents hail it as a long-awaited step.
There's no question that the knowledge genetic testing may provide can change lives. Women who test positive for gene mutations associated with breast cancer or ovarian cancer, for instance, may opt to have their breasts or ovaries removed as a precaution. Less drastically, they may use the knowledge to make sure they keep up on screening tests. Knowledge can boost vigilance.
Genetic tests can also set someone free from particular worries. In a family where a parent died of Huntington's, you may find out that you didn't inherit the gene and cannot possibly get the disease.
Genetic information has been touted by some as the future of medicine, offering the potential to pinpoint subcategories of people for whom particular medical treatments will or won't work. Genotyping certain illnesses helps doctors pick between multiple treatment options. And researchers and health experts talk of its potential to create personalized medicine, targeted to an individual's genetic makeup.
Steps still need to be taken, though, to sort out privacy concerns regarding genetic information. Who should be able to get it? And how much control should a patient have over those decisions?That discussion is still very divisive. And shrill.
Deseret News staff writer Lois M. Collins may be reached by e-mail at [email protected]