- The Washington Times - Tuesday, March 25, 2008

SAN DIEGO (AP) - Dr. John Kelsoe has spent his career trying to identify the biological rootsof bipolar disorder. In December, he announced he had discovered several genetic mutations closely tied to the disease, also known as manic depression.

Dr. Kelsoe, a psychiatric geneticist at the University of California at San Diego, then did something provocative in the buttoned-down world of academic medical research: He began selling bipolar genetic tests straight to the public over the Internet last month for $399.

His company, La Jolla-based Psynomics, joins a legion of startups racing to exploit the boom in research connecting genetic variations to a host of health conditions. More than 1,000 at-home genetic tests have burst onto the market in recent years.

The proliferation of these tests troubles many public health officials, medical ethicists and doctors. The tests receive almost no government oversight, even though many of them are sold as tools for making serious medical decisions.

Health professionals worry that many of these products are built on thin data and prey on patients’ deepest anxieties.

“People are always rushing to the market on the basis of one or two studies,” said Dr. Muin J. Khoury, director of the National Office of Public Health Genomics at the Centers for Disease Control and Prevention. “We have very little evidence that telling people their genetic information is going to make any difference.”

Some tests claim to help predict and diagnose everything from serious illnesses like cancer and Alzheimer’s disease to athletic ability and ideal diet. Psynomics’ offering is one of the first psychiatric genetic tests on the market.

Dr. Kelsoe, 52, said bipolar disorder probably results from a combination of genetic factors and life experiences, and that the presence of these genetic variations does not at all mean a certainty of developing the disease.

He said his findings about the genetic basis of the illness are far from complete, but that his test is a vital starting point toward moving away from the notoriously tricky practice of diagnosing bipolar disorder based purely on behavior.

“The goal of this is to try and help doctors make an accurate diagnosis more quickly so the patient can be treated appropriately,” Dr. Kelsoe said. “Anything is going to help, even if it just helps a little bit.”

Bipolar sufferers experience intense mood swings as they cycle between manic and sometimes delusional highs and depressive lows that can lead to suicide if untreated. The disease is often misdiagnosed as other forms of depression, which delays treatment and leads doctors to prescribe antidepressants that make some patients’ symptoms worse.

To take the test, patients spit into a plastic cup provided by Psynomics, then seal and return it to the company. Psynomics analyzes DNA in the saliva.

Test results are sent only to the patients’ doctors to avoid the risk of self-diagnosis.

The report that accompanies those results instructs doctors that a positive test means patients are two to three times more likely to have bipolar disorder, but studies show that the genetic variations are rare, even among those with bipolar disease.

The report also indicates that for now, the test is valid only for whites of Northern European ancestry who show some behavioral symptoms and have at least one other bipolar family member.

Patients taking Psynomics’ bipolar test might feel branded by a positive result, even if the disorder ultimately is not diagnosed, said Hank Greely, a professor of law and genetics with the Stanford Center for Biomedical Ethics. Or they might feel false hope from a negative result, despite the company’s disclaimers.

Likewise, doctors have little training about applying the test results beyond what companies advise.

“They may make a foolish decision that backfires to put you on meds,” Mr. Greely said. “Or they may make a decision that backfires not to put you on meds.”

Unlike many tests for other conditions on the market, Psynomics does not claim that its bipolar test can predict a person’s risk of developing the disorder later in life. It is meant to be used as a purely diagnostic tool for patients already showing symptoms.

An important distinction makes the Psynomics test more responsible than those that promise a glimpse into the genetic crystal ball, said Dr. Greg Feero, head of genomic health care at the National Human Genome Research Institute.

“Now you’re talking about an individual who has symptoms or signs that already put them in a very different risk category than someone who has no symptoms or signs,” Dr. Feero said.

Among the hundreds of families Dr. Kelsoe has studied, one of the genetic variations in the Psynomics test appeared in 1 percent of those unaffected by the disorder versus 3 percent who are affected. The other variation appeared in 7 percent of those without bipolar disorder compared with 15 percent who have the disease.

Many other genes interacting with a patient’s environment contribute to the development of bipolar disorder, Dr. Kelsoe and other researchers theorize, meaning no single genetic variation ultimately causes the disease. Researchers in Dr. Kelsoe’s lab are working to identify more genes.

“Why are we starting before it’s finished? You’ve got to start somewhere,” Dr. Kelsoe said. “Even if we knew everything about the genes, which we certainly don’t, it’s never going to be 100 percent predictive.”

Psynomics has sold only a few tests so far but is projecting sales of 1,800 tests this year and 30,000 in the next five years.

In coming months, at least two other startups led by genetics researchers are set to release psychiatric tests of genes. One test claims to predict the risk of developing schizophrenia. The other is designed to forecast the likelihood that some medications for major depression could heighten suicidal thoughts in patients.

The American Psychiatric Association has no official policy on genetic testing. A fact sheet issued by the Federal Trade Commission advises consumers to be wary of assertions made by at-home gene-testing companies.

The Food and Drug Administration does not evaluate the tests for accuracy, though a panel is working on a set of standards for the growing industry.

For now, worry persists about how to interpret the data and what to do with the results from the proliferation of tests.

“We just don’t know how people will use the information,” said Dr. Jinger Hoop, a professor of psychiatric genetics and medical ethics at the Medical College of Wisconsin in Milwaukee. “We don’t know whether it will be helpful to them in the long run.”

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