We all know that the advent of more sophisticated diagnostic techniques in modern medicine is helping doctors detect disease at earlier stages, often before it has progressed to a point where a patient’s health is threatened. Through the use of more sophisticated diagnostic imaging and other technological advances, for example, doctors can now detect tumors for a variety of cancers when they are small in size, and thus more easily treatable.

Through advances in the science of genetics, medicine has now gone one step further and entered an exciting new world in which an individual’s susceptibility or risk profile for specific diseases can be determined, sometimes years in advance of symptoms presenting themselves. Increasingly, there is greater recognition of the importance of genetics as an underlying basis for major diseases, such as diabetes, cancer and cardiovascular disease. This knowledge will allow physicians to begin treatment of an underlying disease or condition before it manifests itself, and provide opportunities for patients to choose healthier lifestyles.

While these are promising developments, there is a downside which must be recognized. As more knowledge about the genetic makeup of individuals becomes known, and the use of genetic information in predicting future disease increases, the more likely it is that employers, insurance carriers and others will have access to such information. An employer whose personnel files contain genetic information on its employees, or an insurance carrier whose files have genetic information of their insureds, is in possession of very powerful information which can potentially lead to discriminatory action by employers against employees, or refusal of health insurance companies to offer coverage to insureds who may be at higher risk for certain diseases.

Congress has now recognized these concerns. Recently, Congress passed, and President Bush signed into law, the “Genetic Information Nondiscrimination Act of 2008.” This Act prohibits discrimination against employees by employers, employment agencies and insurance carriers which results from the use of adverse genetic information about the employee. Genetic information in the hands of insurance carriers must also be kept confidential and not be disclosed publicly, subject to limited exceptions, and such information in the possession of an employer must be maintained as a confidential medical record of the employee.

Even with the enactment of this legislation, it is possible that as the use of genetic information plays an ever greater role in modern medicine, the unauthorized use or disclosure of genetic information on patients may occur with increasing frequency, resulting in undesirable consequences. Physicians, employers and employees alike will increasingly need to come to grips with the clinical, financial and ethical implications of the use or disclosure of patient genetic information. The challenge which we will face will be to make the best use possible of this information to help patients live longer, healthier lives, without subjecting patients to the consequences of discrimination based on their genetic makeup.


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