To continue our discussion about inherited eye diseases during Healthy Vision Month, I had the pleasure of speaking with Sarah Richards, a clinical genetic counselor who has worked in the Ophthalmic Genetics Clinic at The Emory Eye Clinicfor the last 3 years. Sarah worked under Dr. Suma Shankar, a genetic ophthalmologist who is an Assistant Professor for the Departments of Human Genetics and Ophthalmology at Emory University School of Medicine and serves as the Medical Director for Emory Genetics Laboratory.
In 2014, the American Academy of Ophthalmology (AAO) Task Force on Genetic Testing published recommendations for the testing of inherited eye disease. These recommendations are intended for ophthalmologists and other eyecare specialists considering testing patients who meet a specific genetic diagnosis, based on clinical findings. The Task Force addressed key points, such as when to order genetic testing for single-gene and complex eye disease, whether children should be tested, and how the use of genetic technologies may assist in the diagnosis of eye disease.
Continue reading for a summary of The AAO Task Force Recommendations.
Researchers have identified several genetic causes of autism spectrum disorder (ASD), including chromosome abnormalities, copy number variants, metabolic changes, and single-gene disorders. The diagnostic yield for identifying a specific genetic etiology has been reported as 6-15%, which should improve once genetic testing methods evolve, scientific literature expands, and clinical experience increases (Schaefer et al. 2013). The specific genetic defect could be molecular, cytogenetic or biochemical in nature; therefore, choosing a comprehensive lab that offers all three types of testing may be advantageous. Keep reading to learn more about EGL's approach to genetic testing for ASD.
According to the CDC about 1 in 68 children and over 3 million individuals total in the United States, and tens of millions worldwide, are estimated to have ASD. In addition, boys are 4 times more likely than girls to develop an ASD. Most cases appear to be caused by a combination of autism risk genes and environmental factors influencing early brain development.
While many people are familiar with autism, keep reading to learn more about the autism spectrum.
Carrier screening is becoming increasingly popular within the medical field. Ideally, integrated in obstetric care and preconception, carrier screening is an extremely useful tool for any couple considering having children. Keep reading for 6 points to consider about expanded carrier screening.
The holiday season has come around once again, bringing the opportunity to celebrate and join our beloved family members and remember those who have gone before us. This precious time also presents the opportunity to discuss and share family health history (FHH).
In 2004, the Surgeon General of the United States declared Thanksgiving as National Family History Day. This declaration was made to help increase awareness of FHH as an important risk factor for common chronic diseases such as cancer, heart disease, and diabetes, and to promote a reduction of the burden these diseases have on the national population. In 2012, the CDC found that 96% of Americans believed that knowing their family history was important. Despite these findings, only one-third of Americans have ever tried to gather and record their family's health history.
Because family health history is such a powerful screening tool, the Surgeon General has created an internet-based application called My Family Health Portrait to help make it fun and easy for anyone to create a sophisticated portrait of their family's health. We have listed important things to consider while recording your Family Health History below.