by Elisa Ross
"Genetic disorders come in all shapes and sizes and are often undiagnosed or diagnosed too late due to lack of awareness around genetic testing and its benefits," said Dr. Robert Desnick, Professor and Chairman of the Department of Genetics and Genomic Sciences at the Mount Sinai School of Medicine and Medical Advisor to the Genetic Disease Foundation.
"While many genetic disorders are not fatal, some are, and many can significantly impact your quality of life. That is why it is so important that Americans take a more proactive role in getting to know and understand their genes, be it through education, genetic testing or by speaking with a genetic counselor."
Genetic diseases affect an estimated 12 million Americans, yet according to a survey of 1,000 people conducted by the Genetic Disease Foundation (GDF), while two-thirds of those surveyed were willing to and saw the benefits of undergoing testing, close to 80 percent had never talked to their physician about genetic screening – an inconsistency that can have serious implications on a person’s overall health and the health of their immediate family members.
While it's public knowledge that disease risk can be reduced by living a healthy lifestyle, few are aware of the strong role that genetics and family history play in a person’s current and future health.
In fact, almost every human trait and disease has a genetic component and there are more than 6,000 known genetic disorders, from widely recognized conditions like Down syndrome, spina bifida and sickle cell anemia, to lesser-known conditions like Tay-Sachs disease and Fabry disease.
Genetic diseases are caused by abnormalities in a person's DNA and can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes.
These abnormalities can disrupt the normal function of a vital system, such as the immune system or the nervous system, or prevent normal development of organs, bones or skin, significantly increasing a person’s chance of developing a particular disease.
•Types of spina bifida
•Folic acid critical for early embryonic development
•Is the recommended daily dose of folic acid enough for everyone?
•Healthy diet lowers risk of birth defects
Testing can reveal whether a person carries gene mutations associated with certain inherited diseases. The test involves analyzing blood, tissue or saliva for evidence of genetic abnormalities. Genetic tests typically fall into three categories:
• Carrier screening to determine whether adults carry a gene mutation that could cause disease in their children
• Prenatal diagnostic to learn if a fetus is affected
• Predictive testing to discover the presence of gene mutations that may put a person at a higher risk for a particular disease, such as cancer or diabetes.
The purpose of genetic testing is to allow for early detection, which in turn can lead to early intervention to prevent the onset of symptoms or minimize disease severity. Testing has helped thousands of individuals and families prevent or prepare for hereditary diseases and make informed decisions about their healthcare.
"Determining your personal risk for genetic disorders, or that of your child, is one of the best and most responsible ways of managing your family's health," said Dr. Desnick. "For that reason, it is essential that we educate ourselves about the long-term benefits of knowing your genetic makeup, and KnowYourGenes.org is a valuable and free resource from the Genetic Disease Foundation to help us do so."