The day is fast coming when doctors will be able to predict years in advance what diseases any of us may develop later in life.
For many people, such as Dianne Schuh of Orchard Park, that day -- with its awful choices -- is already here.
Her daughters will have to decide whether to be tested for their chances of getting ovarian cancer. If at high risk, they may see no other option but to have their healthy ovaries removed.
Such genetic tests exist for 530 medical conditions with hereditary links. Hundreds of others will be available thanks to last year's mapping of the human genome, our genetic blueprint.
The tests promise to revolutionize preventive medicine. Individuals at risk for a medical condition can change their habits, take medications and undergo surgery to delay or avoid sickness.
Yet the tests also pose big dilemmas.
Insurance companies might pry into a person's genetic secrets and deny coverage. Employers might fire workers.
Even if proposed laws bar abuse, patients must struggle with whether they want to know potentially gut-wrenching test results, especially if no treatment for a disease exists, and whether to tell relatives.
"The technology is out there to be dealt with," said Schuh, whose family has a history of ovarian cancer. "Now it's up to everyone to catch up."
Companies are starting to market home DNA tests that can check for the likelihood of various diseases.
States, including New York, are planning to expand newborn screening to include a host of disorders with a genetic link. Parents will learn shortly after the birth of a child what disorders might arise later in life.
Doctors see the promise of patients receiving treatments based on their unique genetic makeup, whether to combat an inherited disorder or to prevent a condition they have a high likelihood of getting, such as heart disease.
"We're going to see improved diagnosis and therapies -- individualized medicine -- through the application of genomic information and technology," said Dr. Edward McCabe, physician in chief of the Mattel Children's Hospital in Los Angeles and a national expert on genetics.
Buffalo, with its planned Center of Excellence in Bioinformatics, may play a key role in the changes in medical care. Bioinformatics will be used to translate the new information about our genes into the hoped-for therapies of the future, said McCabe.
Hope and apprehension
But the new era of medical care brings with it anxiety about genetic discrimination and privacy, as well as everyday ethical questions about how to handle the information.
Dr. Richard Erbe, chief of the Children's Hospital Division of Genetics, gazes into the future with hope and apprehension.
"We're going to test for a lot of disorders for which we don't have treatments and which we know little about. We're going to find family members who have the gene for a disorder, but don't have any symptoms. We're going to treat people even though they aren't sick and may never have developed the disease," he said.
Federal and state laws exist to protect patient privacy and prevent discrimination in health insurance, but experts argue that there are enough gaps in the rules to cause concern.
The Health Insurance Portability and Accountability Act forbids health insurance discrimination based on genetic information. But the law does not cover the 16 million people who buy their insurance as individuals instead of within a group.
Meanwhile, the Americans with Disabilities Act prohibits employers from conducting medical tests unrelated to a person's job. But courts are divided on the scope of the protection, particularly for employees who have not yet developed symptoms of an illness.
The health insurance industry counters that current laws are adequate to protect patients and are particularly critical of legislation that would make family history of a disease private. They say there has yet to be a case of insurance discrimination.
"We've been covering people for disorders with a genetic link but didn't have the tests in the past to identify them. We'll cover people in the future," said Dr. David Parker, associate medical director of Independent Health. "With the protections now, we feel we couldn't act on genetic test results even if we knew them."
Still, privacy experts say the nation needs uniform and specific policies about who should have access to genetic information and how it should be used.
"The best way to prevent misuse is to limit access to the information," said Joanne L. Hustead, senior counsel for the Health Privacy Project at Georgetown University.
Hustead said genetic discrimination is rare, but not without foundation and worrisome given the expected growth in genetic testing.
In May, for example, 36 railroad workers won a $2.2 million out-of-court settlement from Burlington Northern and Santa Fe Railroad Co., which tested them after they complained of carpal tunnel syndrome, an injury caused by repetitive motion.
Though the railroad acknowledged it had tested employees without their knowledge, the Equal Employment Opportunity Commission agreed that the company had not used the test to screen employees genetically, and that no employees were fired, demoted or docked pay.
At Roswell Park Cancer Institute, which performs tests for genes associated with cancer, it's not unusual for patients to demand that their blood samples be labeled with a code number instead of their name.
"Almost everyone we see has questions about their health insurance, and many fear something bad will happen," said Carolyn Farrell, director of the service.
Congress has been considering legislation that would set national standards and restrict the use of genetic test results by employers and insurers.
The benefits of mapping the genome may go to waste if genetic information can't be solidly protected, said Rep. Louise Slaughter, D-Fairport, the sponsor of one of two genetic anti-discrimination bills in Congress.
"This affects all of us. Just about everything that happens to us has a genetic component," she said.
Genes and disease
Anyone who wants to build a house needs a blueprint. It's no different with humans, except the plans are far more complex and are located inside each of our cells.
This genetic plan is located on structures known as chromosomes, along which are scattered 30,000 to 40,000 genes. The chromosomes and genes consist of a chemical called DNA that, if you could see it magnified, would look like a twisted rope ladder.
Genes are inherited. They make us who we are: blond or brunet, outgoing or shy. Errors in genes, called mutations, can cause disorders or make people susceptible to them under the right environmental conditions.
About 5,000 diseases have genetic components. A few, such as cystic fibrosis, have a single defective gene as their cause. But for most medical conditions, such as heart disease, multiple genes combine with other factors, such as lifestyle, to increase a person's risk.
There are many diseases that involve mutated genes, but many mutated genes do not lead to disease. Some people carry a gene mutation that causes a disorder, but are not at risk for the disorder themselves.
Because everyone has genes that might predispose them to a disorder, many patients will struggle with deeply personal and perplexing decisions even with strong legal protections.
In the past, doctors studied families like the Schuhs, in which six women have died of ovarian cancer, to figure out if their disease resulted from inherited risks. Dianne Schuh had her healthy ovaries removed in 1985 because she feared she had the mutation.
Today, because the body's genes have been mapped, a new generation of Schuh women can take a genetic test that will tell them if they are at risk.
If Schuh's two daughters receive positive results for a mutation, there are options to lower their risk for ovarian cancer.
The options include getting more frequent screenings, taking preventive medications or having prophylactic surgery.
If they test negative, their worries aren't over.
An estimated 7 percent of breast cancers and 10 percent of ovarian cancers are caused by inherited mutations in genes. But it could be another mutation that has not been identified yet that is responsible for their family's history of the disease.
For disorders with no treatments or cures, testing may offer no relief at all.
Sufferers of Huntington's disease, a progressive condition involving wasting of nerve cells in the brain, tend not to be tested.
"People feel there is nothing to be done to stop the progression of the disease, but there is the potential for discrimination," said Sue Morris, president of the Upstate New York Chapter of the Huntington Disease Society of America.
Telling the family
Meanwhile, physicians must learn what to do with the tests and the information they provide.
Farrell said trained genetic counselors like those at Roswell Park can help patients make the responsible decision to inform relatives about test results. But she and others wonder what will happen as genetic testing moves beyond the specialists and into physicians' offices.
"One of the worst parts for me was notifying all my relatives," said Schuh, whose mother and sister died of ovarian cancer. "People didn't want to believe that this disease was possible if it wasn't happening to them."
Doctors have a duty to their patients, but does that duty extend to family members with the potential for an inherited disease?
Guidelines of the American Society of Human Genetics maintain that it's a health care professional's duty to inform a patient about the potential genetic risks to relatives. They can break the rule of patient confidentiality, the group suggests, if the potential risk to relatives is serious and likely, and treatment is available. But the law is unclear.
"We need to stress the importance of sharing information," Farrell said. "Doctors will have to be prepared."e-mail: firstname.lastname@example.org