How much do you know about genetic testing?

It’s National DNA Day, a day when students, teachers, and the public can learn more about genetics and genomics. The day commemorates the discovery of DNA’s double helix in 1953 and the completion of the Human Genome Project in 2003. To celebrate DNA Day and spread awareness of how our genes and genetic testing can…

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Guidelines miss cancer patients who could benefit from genetic testing: Part 1

Watch a 6-minute video summarizing this study  Current guidelines recommend that only a subset of cancer patients receive genetic testing. Yet recent data suggest that many more could benefit. In a study of 4,196 Medicare cancer patients published in Annals of Surgical Oncology, Invitae found that positive results are nearly as high in patients who did not…

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Genetic testing: An integral component of cardiovascular medicine

Three digital pocket guides can help identify patients for testing

More than 1 in 200 people have an inherited form of heart disease such as cardiomyopathy, arrhythmia, vascular disease, or hypercholesterolemia. Individuals with these conditions may have few or no symptoms but still face significant risks, including sudden cardiac arrest. Early identification of these at-risk individuals can be life-saving, as is identifying asymptomatic family members…

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Finding answers for Ben:
A journey of discovering creatine transporter deficiency

Amy Perry, the mother of a child with creatine transporter deficiency

  Creatine transporter deficiency (CTD) is a rare metabolic disease that affects the way creatine is transported to the brain and muscles. Creatine is a natural substance that plays a major role in energy generation within cells. Lack of creatine can cause growth and developmental delays, including abnormalities in expressive and cognitive speech, as well…

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