To be able to determine a person’s risks for certain diseases, particularly inherited ones, scientists developed a process or method which is known today as genetic testing. This medical marvel gives an individual (and his physician) a chance to gain vital data about his genetic composition. The outcome of a test enables the person to make educated choices concerning preventive care, lifestyle changes, and even parenthood. It may thus help the individual or his children in preventing the occurrence – or negating the effectiveness – of a disease. However, a person has to understand that genetic testing has emotional, social, and legal implications.
To understand how genetic testing works, we also need to have a better appreciation of those functional units of inheritance which control the transmission of traits – the genes. Approximately eighty thousand to one hundred thousand copies of genes are contained in every single cell of our body. Half of these genes are maternally inherited, while the other half are received from the male parent. The genes play a big part in determining the characteristics of a person, such as the color of the eyes, the texture of the hair, or the shape of the foot.
A significant alteration in a particular gene may be a sign of a greater risk for a specific health disorder. By testing saliva, blood, or tissue specimen, scientists can identify such gene alterations.
Adults who have a history of a specific disease in the family may consider genetic testing to determine if they are at risk, and to know what actions to take to prevent the sickness from occurring or to best handle it. If you are indeed considering genetic testing, realize that it has certain implications. For example, the geneticist may ask you the following: if you have a child with birth imperfections; if you experienced stillbirths; or if a particular disease runs in your family. These are information you may not be willing to disclose. Similarly, you may be unwilling to divulge details from postmortem accounts. Revealing such information certainly has both social and legal implications.
Either way, a test result may also have emotional implications. A positive result, for instance, may result to an overwhelming sense of fear. A negative result, on the other hand, may cause feelings of guilt in case another member of the family sustains the disease.
Genetic testing may not always be accurate in pinpointing who will develop a specific health condition. What is certain is that all people are always at risk for the various known diseases. In a number of cases, the risk is increased by family history. If a test reveals a significant alteration in a gene, the risk becomes even greater. However, it is also possible that those who are at high risk of contracting certain illness may not at all suffer from it in their lifetime. Cancer, for example, is believed to be caused by altered genes, and their effect on risk can be swayed by such factors as one’s lifestyle or the environment.