Genetic Testing Disease Risk Profiling

Scientists have discovered that some diseases are caused by specific faulty genes and that many others have a genetic risk factor. Genetic risk factors exist for conditions such as:

  • Alzheimer’s disease
  • heart disease
  • Parkinson’s disease
  • schizophrenia
  • some forms of cancer.

Inherited genetic diseases such as Huntington disease and sickle cell anemia can now be identified at the DNA level before any symptoms are experienced.

Information about genetic diseases and risks for genetic abnormalities are now available to the general public. Anyone can order a DNA test for risk of disease from an online lab or local doctor. All that is required is a DNA sample swabbed from the inside of the cheek and the testing fee. Prices vary depending on the lab, and can range anywhere from about $200 to $3,000. Within the next 10 years, an entire genetic profile should be available for about $1000.

Benefits of a Disease Risk Profile

Disease risk profiling can have many benefits, especially when coupled with genetic counseling. A low risk result can alleviate fears for people with a family history of disease. Even discovering a high risk for disease can have some positive outcomes:

  • Diseases such as breast cancer can be detected through self-exams and mammograms. Women found to have a high breast cancer risk can increase their chance of early detection and survival through earlier and more frequent screenings.
  • Many conditions have both behavioral and environmental causes in addition to genetic vulnerability. A high risk result can encourage individuals to adopt healthier lifestyles and reduce the odds of developing disease.
  • Those found to have a high risk of catastrophic illness such as Alzheimer’s disease or a pre-symptomatic diagnosis of Huntington’s disease can choose to live each day to the fullest, create clear living wills and plan for their future care.

Challenges of Disease Risk Profiling

Screening your DNA for certain diseases also has a downside. Some diseases can be identified by single gene abnormalities while others have complex causes, both genetic and environmental. Severity of diseases can also differ depending on the number of repeats of a certain section of the gene. All these factors can make DNA test results difficult to interpret. Here are some other potential problems which could arise from disease risk profiling:

  • Devastating emotional and psychological consequences including suicide can occur from a pre-symptomatic diagnosis or high risk result for incurable disease.
  • High risk of disease does not mean a person will definitely get the disease. Often a high risk reading means a person is only 20 to 40 percent more likely to develop the condition. A low risk result does not guarantee that disease will not develop.
  • Not all commercial companies are competent enough to provide genetic tests. Results can be inadequately explained, oversimplified, or simply inaccurate. California’s department of public health recently ordered 13 companies to stop genetic testing due to complaints such as these.
  • Unfavorable results may lead to job discrimination or denial of life or health insurance.

Important Considerations

If you are considering disease risk profiling tests, genetic counseling is extremely important. This counseling will help you to interpret test results and handle any emotional repercussions that may arise. When choosing a lab, consult your doctor to help you locate an agency that is both certified and reputable.


Johnson, B. (2008). California clamps down on genetic testing industry. Retrieved September 18, 2008, from the Guardian Website:

Korn, P. (2008). Genetic profile: A dicey payoff. Retrieved September 18, 2008, from the Portland Tribune Web site:

Press Association Staff. (2008). Stress warning over genetic testing. Retrieved September 18, 2008, from the Press Association Web site: