Fighting genetic discrimination

Marvin Sineath, who suffers from a genetic disorder that puts him at risk of lung disease, wears a device that helps him monitor the oxygen level of his body as well as his heart rate.

Tyrone Walker

At first glance, Marvin Sineath appears a hale 61-year-old Vietnam veteran. He has a razor-shaven head, a trim grey beard, and he is a keen storyteller.

But it isn't long before he gets a little winded. Tucked in the corner of his living room is an airway cleaning system to beat the phlegm out of his lungs. Oxygen tubes snake along the baseboards of his James Island home.

Sineath has a genetic disorder called alpha-1 antitrypsin deficiency, in which a defective Alpha-1 protein can lead to lung and liver disease. He has chronic obstructive pulmonary disease and suffers emphysema, chronic bronchitis and asthma.

"Being an athlete all my life helped," Sineath said of his diminishing lung capacity. But it's also a part of his life that's peeled away, sport by sport.

About 6,000 genetic disorders exist, according to the Human Genome Project, and screening is available for more than 1,000 of those, including Alpha-1.

Genetic testing is a blessing and a curse. With knowledge comes the possibility for early treatment and better health. But a darker side lurks of discrimination by insurance providers and employers.

To stop the cycle of fear and failure to get treatment, Sineath, along with all the major Alpha-1 organizations and the American Lung Association, vigorously petitioned legislators to vote for the Genetic Information Nondiscrimination Act.

President Bush signed the bill into law Wednesday, banning insurance companies and employers from discriminating against people based on genetic test results. The law also makes it illegal for insurance companies to increase group premiums based on genetic information.

But until the legislation is tested in court, many remain wary. Among those with lingering concerns is Dr. Charlie Strange, director of the Alpha-1 Research Registry, which is housed at the Medical University of South Carolina.

About 100,000 people nationwide, or one in 3,000, are estimated to have Alpha-1, Strange said. Yet only about 5 percent of those people are diagnosed.

Some people are afraid to get tested because if a doctor orders the screening — regardless of the result — the phrase "Alpha-1" could forever be written in a patient's medical records and known to insurers.

What insurers do with that information is unknown, Strange said, but patients certainly feel vulnerable to higher premiums. The anti-discrimination law should correct that to some degree, Strange said.

But the law might fall short of protecting people with individual plans and small-group plans since the bill does not restrict insurers from raising rates based on expensive treatments for genetic diseases. "That's possibly where the lawsuits will emerge," Strange said.

The cost to treat Sineath's Alpha-1 is about $2,000 a week, or more than $100,000 a year. And that's just for basic maintenance, excluding doctor and hospital visits. He covers his costs through his veteran's disability and private insurance.

In addition to inhalers and asthma medication, a nurse infuses him weekly with a concentrated form of alpha-1 antitrypsin that is derived from human blood. The protein protects organs from the harmful effects of certain enzymes.

"I know of patients who haven't revealed it and sought help," he said. "It's foolish. There are people who will help pay."

AlphaNet is one of those resources. Jane Totten, AlphaNet coordinator for South Carolina, Georgia and Tennessee and an Alpha-1 patient herself, counsels about 130 people with the genetic disease.

"This is not a death sentence," she said. "We help them find insurance and get funding to pay for the insurance." Totten also talks to patients monthly to make sure they're getting the help they need.

The Alpha-1 Foundation established a confidential registry in 1997, which now has nearly 3,000 people whom scientists and drug companies can tap for research, Strange said.

The registry also offers free, confidential test kits.

No law and no amount of confidentiality will alleviate the anxiety of those who simply can't face the knowledge. A few of Sineath's siblings refused to be tested because they plainly don't want to know.

He first showed signs of the disease when he joined the Army at age 21. By the end of basic training, he struggled to finish a mile in under 8 minutes, a feat he completed easily at the beginning of training.

But after weeks of dusty crawling and exposure to the gas chamber, his lungs were suffering. "The writing was on the wall, I just didn't know what I was reading," he said.

He was 46 when doctors figured out he had Alpha-1. "It was like a punch in the face," Sineath said. His father's early death from cirrhosis came into focus.

Sineath soldiers on, keeping fit on his treadmill, so he can be a resource for other Alpha-1 patients. "I was raised to be helpful," he said. "In life, do what's asked of you, and you'll get along fine."