Genetic Testing: An Example of Personalized Medicine and Its Burden

Personalized medicine promises to offer patients unique diagnostic and treatment services focused on the individual. For several years the BRCA test has been used by physicians treating women with a past medical history or family history of breast cancer. The test has proved useful due to the high incidence of breast cancer and the powerful predictor inherent in the genetic marker used by the test.

For most genetic testing, as well as other personalized diagnostic testing, the number of patients affected by the disease the test looks for is rather small. In addition, the ability of the test to accurately predict disease is often limited.

In summary, for most genetic testing there is a low probability that the test will be positive, and even if it is positive, it is not a strong predictor of the disease it supposedly is screening. Now, imagine you are a physician advising a patient who demands that the test be done. Do you recommend the test? If the result is positive, how do you advise the patient on treatment?

These new genetic tests are putting both patients and physicians in a bind. For the physician, the medical literature is not very specific on what to do. In addition, the large numbers of tests that are becoming available each year make it impossible for the physician to keep up with the details.

For the patient, the burden is just as heavy. Lacking definitive advice from the physician – in most cases it does not exist or the physician is unable to remain up-to-date on the medical data – the patient is left alone trying to figure out how to respond.

Considering all this, can anyone wonder why insurance companies are reluctant to pay for most of these tests?

Early in medical school I learned to never order a test which delivered results that would have no impact on my planned care. The same principle applies here.

Patients must be realistic and not expect their physician to know the details on every new genetic test. In addition, they must take responsibility to research, as best they can, unbiased information about the test and make an informed decision about what to do. The physician can act as a subject matter expert, explaining some details to the patient, but the patient, especially in this burgeoning age of consumerism, must take the lead in the process to decide what to do.

At least one problem is being addressed…the government is working to protect us from discrimination based upon our genetic make-up.

Now if a pre-existing condition is due to a “genetic defect, does that mean we can no longer be denied insurance due to that pre-existing condition?

Further reading:
Wall Street Journal
Healthcare IT News
Oakland Business Review
Science Daily
Chaiken BP. Patient Information: Who's Your Daddy?
Chaiken BP. Personalized Medicine: Just for you.