Problems With Online Karyotyping

A karyotype is a snapshot of a person's genetics. It is made with an image of all 23 pairs of human chromosomes, which includes 22 pairs of autosomes and a single pair of sex chromosomes. The chromosomes of a karyotype are arranged by size with the largest chromosome pair labeled 1 and the smallest labeled 23. While it does not analyze the specific genes or DNA itself, a karyotype can identify genetic disorders such as Down syndrome, Kleinfelter's syndrome, Trisomy 18 and Turner syndrome.

Online Karyotyping

• Karyotyping is traditionally performed by a person's local medical professionals with their doctor's associated laboratory. However, with the advent of the Internet, some companies have begun to offer direct-to-consumer testing arranged online. Consumers can take a tissue sample themselves and send it to a service which will analyze it in a lab. By 2006, more than half of the states in America permitted online genetic testing, and there is very little federal supervision of these tests and procedures. In 2006, the Federal Trade Commission offered an alert to consumers against direct-to-consumer online genetic testing for several reasons, including lack of proper context and counseling, questionable laboratory practices and exaggerated claims.

Context and Counseling

• Any medical test, especially any form of genetic testing, should be performed in the proper context with a knowledgeable medical professional. While a karyotype can help diagnose a genetic chromosomal disorder, it can be misread or misinterpreted. An appropriately trained genetic counselor should be on hand to explain the implications of the test, including options the patient has. For example, a pregnant woman's fetus may test positive for a chromosomal disorders that can put her at a higher risk of miscarriage. A genetic counselor can guide patients through this information while a direct-to-consumer test simply offers the fact there may be a disorder.

Laboratory Quality

• When a patient has his or her doctor run a genetic test such as a karyotype, the doctor has the results processed by a reputable laboratory. Direct-to-consumer tests provided over the Internet are performed in unknown labs. While all laboratories in the United States are required to screen personnel and maintain a level of quality control, there is little or no supervision as to the analytical validity, which is the variations in the tests themselves. This can lead to inaccurate or misleading results. Additionally, the Food and Drug Administration oversees the quality of at-home test kits, but it does not oversee laboratory testing itself.

Accuracy of Claims

• The Federal Trade Commission has investigated direct-to-consumer genetic testing companies and issued a consumer alert about them in 2006. Some of the companies use medical privacy as a sales technique, claiming that using their service allows the consumer to keep this personal medical information from their general medical history. This does not necessarily mean the information is more accurate or reliable. The results outside of the influence of a physician or genetic counselor can lead consumers to make life-changing, emotional and irreversible decisions, such as whether to terminate a pregnancy or choose to not undergo treatment for a disease.