Ethical Dilemmas Put "Life's Blueprint" Under Strain

Symposium To Address Genetic Privacy And Discrimination Issues

May 21, 2002

            A perfectly healthy man wants to start a family but decides first to have a blood test that will tell him, without question, whether or not he will develop a fatal disease as a result of a defective gene. Meanwhile, his identical twin, with the same DNA, fights the idea due to his concerns about privacy, fearing the loss of his job, his health insurance, and even his girlfriend if he has inherited the gene.

            Such scenarios have migrated from fiction to fact as knowledge about the human genome – our collection of genes that in large part determine who we are – makes its way from the research laboratory to the patient’s bedside. In the two years since the human genome was mapped, scientists worldwide have been discovering bits of knowledge doctors can use to predict a person’s health problems and tailor treatment accordingly.

            The rapid progress has drawn attention to the need to discuss a whole new set of ethical possibilities and dilemmas that genetic technology makes possible. To fill the void, scientists at the University of Rochester Medical Center have organized one of the first symposiums dedicated to genetic privacy and discrimination. Anyone interested in attending can call (585) 275-4392 or check http://www.urmc.rochester.edu/cpe/sgpd/ for more details.

            Among the presenters at the conference June 14-15 are Congresswoman Louise Slaughter, who has proposed a bill in the House of Representatives to prohibit discrimination based on genetic information; John Rowe, president and CEO of Aetna; Greg Koski, director of the federal Office for Human Research Protections; and genetic counselors, lawyers, physicians, and others. Topics will include genetic discrimination in the workplace, genetic counseling, a review of the latest research, and the status of legislation around the nation.

            “The technology is far ahead of public policy,” says Ira Shoulson, the neurologist organizing the symposium. “Privacy is incredibly important in medicine. With genetic information, the twist is that we’re talking about privacy not only for what you can see, but also what you can predict.”

            Currently there is a patchwork of laws among states to address genetic privacy and discrimination. In the House of Representatives, Slaughter’s bill would prohibit health insurance plans from denying eligibility or changing premiums or conditions of coverage based on genetic information. It would also prohibit employers from using genetic information to make employment-related decisions such as hiring, firing, or promotions. Similar legislation is pending in the Senate, and last year President Bush came out in favor of protections against genetic discrimination.

            Such proposals are in response not only to the threat of the misuse of information, but also in response to a few well documented cases. In the best known case, officials at Burlington Northern Railroad required employees to submit blood samples, without disclosing that the company was screening for a gene believed to predispose people to develop carpal tunnel syndrome.

            Hard decisions created by newfound genetic capabilities have become part of everyday life for doctors and patients at the University of Rochester, home to one of the world’s top groups of doctors specializing in Huntington’s disease. In many ways, patients with the disease can be considered a sentinel population, already wrestling with issues likely to affect everyone as genetic knowledge and testing become more sophisticated and widespread.

            Seeing patients and others struggle daily with the issues spurred Shoulson and Aileen Shinaman, attorney and co-organizer, to establish the symposium, which is supported by the Huntington’s Disease Society of America, Pfizer Pharmaceuticals Group, and the Hereditary Disease Foundation.

            The genetics of Huntington’s are simple: If one parent has the disease, a child has a 50/50 chance of inheriting a defective copy of the gene. A person who inherits the defective gene will get the disease, which is always lethal. The gene creates a protein that relentlessly destroys brain cells, causing involuntary movements, cognitive problems, and psychological problems like depression and paranoia. The disease usually strikes in young- to mid-adulthood, in a patient’s 30s or 40s.

            Nine years ago scientists found the precise gene that causes the disease. Today it’s a matter of a simple blood test for patients to know with certainty that though they feel fine now, they have a disease for which there is no cure and little treatment.

            The depth of knowledge coupled with the lack of cure presents the 100,000 to 150,000 people in the United States who are at risk for the disease with a dreadful dilemma: They can be tested and perhaps find out they have a disease that doctors cannot cure, or they can ignore the technology and live their lives without knowing if they have Huntington’s until – or if – symptoms appear.

            “Every day I run into these questions with my patients. In a few years, nearly everybody will face these questions, and their doctors have to be ready to help them answer them,” says Shoulson, who is part of a team that follows and treats more than 200 families with the disease. “I am practicing medicine today in a way that doctors will practice in 10 years.”

            Shoulson foresees the day, not too far off, when an individual can visit a major hospital like Strong Memorial Hospital and have a genetic screening test that will reveal his or her medical vulnerabilities. Already genes known to predispose people to certain forms of colon and breast cancer can be routinely checked, and doctors are analyzing the role of several genes to heart disease, other forms of cancer, Alzheimer’s disease, and many other conditions.

            “Each of us has about six genetic burdens, on average; some may be trivial, and some may be lethal. The more you know, the more you can plan for them, or avoid them. For some, there may be nothing you can do right now. It’s a vexing issue,” he says.

            For people at risk of Huntington’s disease, an overwhelming majority choose not to be tested. The first reason they cite is the lack of a cure: Why know if nothing can do done about it? Other reasons that patients decline testing have to do with confidentiality. Among patients who have the test, many pay for it out of pocket, so their insurance company doesn’t have a right to the information.

            People who choose to be tested do so for a variety of reasons, says             Peter Como, a neuropsychologist who heads the genetic testing program for Huntington’s patients. Usually, they’re making plans, perhaps deciding whether to get married, whether to have children, or how to plan financially. Those who are interested go through an extensive process, speaking with geneticists and counselors to make sure they understand the test and the risks it might uncover. Patients also undergo a thorough exam by a neurologist, and they visit with a psychologist to discuss the decision. After that, blood is drawn, and in a week or two doctors deliver the news, good or bad.

            Como says that for those who choose to be tested, emotions run the gamut from shock and dismay to surprise, joy, and guilt. “What if you’re the only one in your family who has escaped this horrific disease? It’s a role of the genetic dice, but people start to feel guilty. It’s a type of survivor’s guilt.”

            Como quickly rattles off some of the scenarios that his patients and their families have faced or considered when deciding whether to be tested. Will the patient still be able to get life insurance? Will the health insurer find out the results of the test? Will an employer refuse to hire the person because of high health costs?

            What about the patient who has assumed a shortened life span and has lived recklessly, only to find out he will never develop the disease? Or the woman who gets the news that she will never suffer from the disease, who no longer finds the husband she planned to be her caretaker attractive? Or the healthy man with young daughters who has the option to discover whether he will die of the disease within 15 years?

            “Suddenly,” Shoulson points out, “the practice of medicine has been transformed from a one-on-one doctor-patient relationship, to a relationship that affects not only the individual patient but also his or her siblings, children, and parents. It’s become the doctor-family relationship. What I tell you has a direct, profound impact on everyone in your family.”

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