How genetic testing is changing medicine

As genetics becomes more a part of medical practice, illness will be redefined, and the nature of health insurance will be altered.

By Victoria Stagg Elliott, amednews staff. Nov. 19, 2001.

Since the completion of the Human Genome Project last year, announcements of new gene-related discoveries have accelerated.

New predictive and diagnostic tests have been manufactured. The Food and Drug Administration has approved novel drugs targeting the molecular basis of disease. And this is only the beginning. But the question remains: Who will pay for the genetic revolution?

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"I have no answers," said Alan H. Spiro, MD, a health and welfare consultant with the management firm Towers Perrin. "I have only questions. But the Human Genome Project is going to have profound effects on health insurance as it will medicine in general. It may redefine what we consider benefits to be, how we manage the plans and how employers manage benefits." Dr. Spiro spoke at the BlueCross BlueShield Assn.'s Best Practices in Medical and Pharmacy Management Conference in Chicago in October.

At the moment, clinicians who deal with genetic issues in their practice complain that reimbursement is spotty at best. Some insurance companies pay. Some don't. Others require proof of medical necessity and still others require genetic counseling accompany any tests.

Still, genetics has made some inroads in very specific situations. Children with leukemia are now more often tested for genetic abnormalities that determine how they react to treatment with mercaptopurine. And testing for BRCA1 and BRCA2, genes that account for some breast cancers, is becoming more common.

"For high-risk women, those tests have a lot of value," said Morris Mellion, MD, chief medical officer of Blue Cross and Blue Shield of Nebraska.

But genetics has yet to enter the mainstream of medicine. At the moment, insurance companies say the reimbursement for genetic medicine is manageable. The few new small molecular drugs do not yet target common diseases. In addition, patient and physician demand for genetic tests is low. An individual test may be expensive, but the number of tests ordered annually means that the overall cost is, at the moment, minimal.

But what will it mean when everyone is getting tested?

"What it ultimately means is that we may have to redefine disease," said Dr. Spiro. "Over the years with managed care the health insurance contract has been to pay for preventive services -- which are usually defined fairly rigidly -- and pay for the treatment of disease. We're going to have to decide whether these genetic defects are a disease are not. The impact could be huge."

It is also unclear in many cases, even for the most basic single gene disorders such as hemochromatosis, whether the genetic test will benefit. A defective gene is not a guarantee of developing the disorder, and insurers are hesitant about paying for preventive services that might not actually be preventing anything.

"From a cost-benefit analysis, it doesn't make sense to test for the hemochromatosis genes broadly, particularly since at the moment, we are not talking about a cheap exam," said Dr. Spiro.

And there is concern that screening for genetic predispositions that all of us have and the preventive services that may have to accompany their detection may overwhelm the health care system. Current tests detect specific genetic mutations and even the least expensive ones start at $300. Future screens may need to sequence the entire genome to detect abnormalities, and may be even more expensive.

"We're all carrying the potential for disease and passing it on," said Dr. Spiro. "But if you have a genetic screen and are found to have a 30% chance of cancer in the next 20 years, is that a disease and will it be treated?"

Those in the insurance industry speculate that the added costs for preventive services, however, may be offset by pharmacogenomics. The science of personalized prescribing may mean fewer adverse drug reactions for which to pay.

"There is the potential for drugs to be safer and more specific," said Dr. Spiro. "But they'll also be more expensive. Will they be worth it?"