Anyone who has taken an upper-level high school biology course or entry-level zoology at the college level has been introduced to the science of genetics. The field is known for its complexity, and the development of genetic testing for various purposes is a truly significant achievement. Now, companies like Pathway Genomics, founded by Jim Plante, provide DNA testing that can indicate risk levels for disease as well as other information people may find useful.
Much of today’s genetic testing is done to identify variations, abnormalities or mutations in the person’s DNA. Since many health disorders have a basis in genetics, this can provide important knowledge to the patient and doctor.
One prevalent use is to detect the chromosomal abnormality in unborn children that causes Down syndrome. Patients also may want screening for certain types of cancer to decide if they want to take preventive measures. Adult children of a parent with Huntington’s disease may want to learn whether they will also develop this fatal illness so they can make plans for the future.
Doctors can recommend that patients get genetic testing, but they cannot order this. Deciding to have any tests done is entirely voluntary. When patients make this choice, they should receive guidance from a professional genetic counselor to help them understand the implications of the results. At least one discussion should be held before any testing is done.
This counselor helps the person learn the advantages and limits of learning the DNA results. The person learns the scientific limitations and has a source of emotional support when the news is bad. An example of a limitation is that a person may carry a genetic marker for Alzheimer’s disease, but that does not mean the disease will actually occur, no matter how long he or she lives.
Genetic testing results for abnormalities and markers should be viewed as tools to help people make informed decisions about their health and lifestyle. Even the most troubling information may allow these individuals to choose to live more fully during the years of good health they have left, and perhaps to participate in clinical trials that may find effective treatment or a cure.