Editor's Note: Once viewed as a relatively obscure branch of medicine, genetics has become the focal point of diagnostic and therapeutic research that will eventually impact every facet of healthcare. With the scientific advances come greater burdens of responsibility for medical professionals and patients to make every effort to fully understand the ramifications of decisions affecting not only themselves, but virtually every member of a patient’s family.

• Sally and Peter’s baby boy, Jeffrey, is a year old and both the parents and their pediatrician have concerns about his development. Jeffrey is just beginning to sit up, crawl and eat solid foods. As part of the overall assessment, the pediatrician recommends a genetic test to check for chromosome abnormalities.

• Marian has just completed chemotherapy following a mastectomy for breast cancer. She has three daughters in their thirties and wonders about the possibility that the breast cancer is hereditary. She and her internist discuss genetic testing, but she wonders how to approach her daughters.

• Sherry is a young woman recently married. Her brother has Duchenne Muscular Dystrophy. She has asked her primary-care provider about the possibility of carrier testing before she and her husband consider having a baby.

These dilemmas are just three examples facing families and their physicians in the wake of the Human Genome Project and its discoveries. A routine diagnostic blood test can provide valuable information in treating a variety of diseases. A genetic test, however, goes far beyond the routine and has implications not always considered by the patient or the doctor.

Emotional impact: Often the results of a genetic test, particularly if they show that a person carries a "defective" gene, have a powerful impact on the basic premise of who we are as human beings. Such results may begin a process of grief that resembles other experiences of loss. How such information will affect a particular individual or family is unpredictable.

Family considerations: A genetic test usually does not involve just the person giving the blood sample. The results may have far-reaching implications for many family members, who may or may not be aware that the testing is even being done. It is imperative that these issues be discussed ahead of time and carefully considered by the patient and physician.

Financial implications: The cost of further testing and treatment of genetic disorders can be substantial, often far beyond what is covered by a family’s medical insurance. Certainly this is not a reason to avoid testing, but it must be considered and funding alternatives identified as part of the decision-making process.

Insurance issues: The results of genetic testing have been used by insurance companies to raise premiums or even to cancel coverage. If an insurance company has paid for a particular test, they may be entitled to know the results and use that information to deny future claims. It is possible that the person/family who is tested may then be identified as having a pre-existing condition, making future insurability difficult, if not impossible. Again, upfront knowledge is imperative.

Future discrimination: Patients and their family members have reported discrimination in both work and insurance situations based on the results of genetic tests. Legislation at both the federal and state levels is addressing this issue, but patients and physicians need to be aware of the possibility before beginning the process.

Privacy and confidentiality: This issue exists on several levels, which need to be considered. Do other family members have the right to know test results, if they may be impacted? What about employers and insurance carriers? Who actually "owns" the blood/DNA sample? Can it be stored for future testing as new technology is developed? If so, who would have access to it? These are difficult ethical question with no simple answers.

Whenever a genetic test of any kind is recommended, physicians and their patients must consider all possible present and future implications of such testing, both for the patient and their family members. Since new discoveries are made almost daily, doctors and families will find themselves learning together. The more information each has, the better the chance that true informed consent will be achieved, and that a decision will be made weighing possible implications against the knowledge to be gained from testing.

Contributed by Betsy Trombino