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Genetic Disease Foundation Encourages Americans to Know Their Genes at in Observance of World Rare Disease Day

Survey finds Americans willing to undergoing genetic testing, but few taking action

(PRWEB) February 28, 2010 -- 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 genetic 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 is 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. Approximately 10 percent of all adults and 30 percent of children in hospitals are admitted due to genetically-related problems.1

“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 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.

It’s In Your Genes: Genetic Testing and Your Health

Genetic 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 and 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. Genetic testing has helped thousands of individuals and families prevent or prepare for hereditary diseases and make informed decisions about their healthcare. However, because of the physical and emotional implications associated with a genetic disease diagnosis, many people prefer not to know that they may be at risk. The Genetic Disease Foundation found that 63 percent of those surveyed did not know if they or someone in their family had a genetic disorder. In addition, the survey revealed that preferring to not know about their risk for a genetic condition ranked among the top three reasons for not undergoing genetic testing.

“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 is a valuable and free resource from the Genetic Disease Foundation to help us do so.” A New Easy-to-Understand Resource on Genes and Genetic Testing

In observance of World Rare Disease Day on February 28, 2010, the Genetic Disease Foundation is launching – a new easy-to-understand resource for people who are planning a family, have a family member or friend with a genetic disease or have a personal interest in undergoing genetic testing.

“ was created to address the lack of easy-to-understand information out there about genetic testing and the role genes play in your health,” said Elisa Ross, President of the Genetic Disease Foundation. “GDF is proud to bring this resource to all those who want to take a preventive and proactive approach to their health and the health of their family.”

In addition to providing helpful information on genetic diseases and testing, also includes a quiz to determine who should undergo genetic testing and where to find the nearest genetic testing location and personal genetic counselor.

For more information, visit

About The Genetic Disease Foundation

The Genetic Disease Foundation (GDF) is a 501(c)(3) not-for-profit organization established in 1997 by patients and families affected by genetic disorders. The Foundation’s mission is to support research, education and the prevention of genetic diseases. The GDF supports: education programs to increase awareness about genetic diseases and the need for and availability of genetic testing; research to improve genetic testing and discover ways to treat, cure and ultimately prevent genetic disorders; and genetic counselors and health professionals with experience in medical genetics and counseling. The Genetic Disease Foundation is affiliated with the Mount Sinai School of Medicine's Department of Genetics and Genomic Sciences, whose faculty lead the country in clinical research to improve prenatal diagnosis, carrier screening, genetic counseling methods, and therapies for genetic diseases.

For more information on the Genetic Disease Foundation, visit


1. Nussbaum, RL, McInnes RR, Willard HF. Thompson & Thompson's Genetics in Medicine, 7th ed. 2007, WB Saunders Company, Philadelphia, PA

For additional information, please contact:

Mariana Rodrigues
+ 1 212.453.2351


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