inherited diseases
genetic testing

Medical conditions that run in a family are inherited or genetic, caused by changes in genes that are passed from generation to generation. Many different types of diseases can be inherited, such as cancer, diabetes, cardiac, hematologic, immunologic, hearing loss, visual systems diseases, and the list goes on. Genetic testing for inherited diseases can identify the cause of familial disease. Testing can also help determine which specific relatives are at risk for developing it. It is important to recognize that results cannot predict when the condition will develop or how severe it may be. Inheriting the mutation is not a guarantee that disease will develop, although it may cause the disease in many people. Furthermore, there are typically few treatments that can prevent or change the course of the disease, however, genomics provides hope for preventive treatments to be developed in the future.

Genetic testing for inherited diseases should be thought of as a family test rather than a test on an isolated individual. Although the testing process may start by taking a blood sample from one person, the results are best understood when the family is evaluated as a unit. This way, both the genetic test results and medical test results are available, providing the most accurate picture of how the disease and the gene mutations may act in that particular family. Such comprehensive information not only helps to identify specific patterns in the family but also plays an important role in confirming that the gene mutation is truly an accurate marker of the familial disease.

Determining that you, or a close relative, have or are at risk for an inherited disease can cause a wide range of emotional reactions. Some people may feel a sense of relief from removing the uncertainty about whether they or their children inherited the mutation. Others may feel disappointment or worry to learn that they or their children have inherited the mutation and are definitely at risk for developing a disease, particularly if no treatment to change how, when, and if the disease may develop. Learning that you do not carry the family’s mutation will often be a relief, but may also cause feelings of guilt. It is important to consider how you might react to both positive and negative results before pursuing genetic testing for inherited diseases. At PHIX, genetic testing for inherited diseases is performed in conjunction with a healthcare team that has the experience and resources to study the family and to provide important counseling before and after testing. This counseling is integral at PHIX, as it helps individuals make an informed decision about whether pursuing genetic testing is right for them. It also helps to ensure that the individual and their family are appropriately cared for and understand what the results mean.