EGL Genetics Blog

New Evidence May Suggest Earlier Screening for Colorectal Cancers

Posted by Eleina Cox on Mar 8, 2017 3:00:00 PM

The National Cancer Institute (NCI) published an article indicating that since the mid-1980 and 1990's, colon cancer incidence rates have decreased in individuals 55 and older, while increasing in adults ages 20-50. This new evidence has prompted a discussion as to whether screening should start earlier than the current recommendation of 50 years old in a person with average risk. Recommendations for earlier screening have already been established for high-risk individuals, i.e. individuals with a first degree relative diagnosed with colorectal cancer before age 60. 

With the exclusion of skin cancers, the American Cancer Society reports colorectal cancer as the third most common cancer diagnosed in both men and women in the United States. The lifetime risk of developing colorectal cancer is about 1 in 21 for men and 1 in 23 for women; therefore earlier screening may increase prevention and lower the lifetime risks.

Individuals with a personal and/or family history of an inherited colorectal cancer syndrome have a higher risk than the general population to develop colorectal cancer, therefore screening is recommended at a much earlier age which can be specific to each syndrome. There are several syndromes associated with hereditary colorectal cancer. The three most common are Lynch syndrome, familial adenomatous polyposis (FAP), and MYH-associated polyposis (MAP), which account for up to 5% of all colon cancer cases. 

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Topics: genetic testing, colorectal cancer, cancer, screening, awareness, genetic counseling, advocacy, lynch syndrome, familial adenomatous polyposis

2016 Year in Review

Posted by Derek Stevens on Dec 8, 2016 11:33:42 AM

Emory Genetics Laboratory was founded in 1970 and while our long history is full of many scientific and technologic innovations, first-to-market genetic testing options, and experts in the field of medical genetics, 2016 has been one of our greatest years yet.


Thanks to the joint venture formed by Emory University and Eurofins Scientific, a global leader in clinical diagnostics and genomic services, Emory Genetics Laboratory will be reaching even higher heights with a brand new, 61,000-sq-ft, state-of-the-art laboratory.


New home, new name. That’s right, after 46 years of serving our clients as Emory Genetics Laboratory, we’ll soon transition to a new brand identity.

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Topics: genetic testing, New employees, new building, new laboratory, Emory University School of Medicine, genetic counseling, 2016, Eurofins, Year in Review, new president, joint venture

Media Buzz Steers Genetic Testing Policy and Reimbursement

Posted by Eleina Cox on Oct 20, 2016 12:03:51 PM

From fashion, to homeland security and the presidential election, the media has a major impact on our daily lives. Though we may not notice it happening, the media also plays a significant role in our healthcare and health management. Take for example, in 2013; Angelina Jolie announced she had a mutation in the BRCA1 gene, which prompted her to undergo significant prophylactic surgeries to reduce her risks of developing breast and ovarian cancers. Angelina’s openness about her genetic status and personal health choices heavily influenced the demand for knowledge and testing for hereditary cancer throughout the United States.

Due to high media coverage and an increase in the number of individuals seeking genetic testing and counseling for hereditary breast and ovarian cancer (HBOC) syndrome, health insurance companies responded by improving financial coverage for individuals meeting certain testing eligibility criteria. These criteria are most commonly based on National Comprehensive Cancer Network (NCCN) Guidelines and include having a personal history of breast and/or other cancers, and/or having first and second degree relatives with a history of breast, ovarian, or other cancers. The criteria and amount of coverage may vary from one insurance company to the next, and even within plans offered by the same insurance company.

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Topics: genetic testing, awareness, breast cancer, rare disease, insurance coverage

Genetic Testing for Duchenne & Becker: When Is Re-Testing Needed?

Posted by Danyella Davis on Jun 24, 2016 1:49:06 PM
Emory Genetics Laboratory is proud to provide genetic testing for Duchenne and Becker muscular dystrophy as part of Parent Project Muscular Dystrophy (PPMD). Lauren Bogue, MS, CGC recently posted a blog regarding the need to retest patients for Duchenne and Becker muscular dystrophy. To read more, click here.
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Topics: genetic testing, Duchenne

Exome Del/Dup Analysis: What You Are Not Analyzing May Hold the Answer

Posted by Eleina Cox on Jun 16, 2016 11:00:00 AM

Exome sequencing is a recent addition to the routine clinical genetic testing. This technology allows for the simultaneous testing of thousands of genes; making it essentially the largest multi-gene panel available. The diagnostic detection rate for exome sequencing has been reported as 25-30%, by clinical genetics laboratories. But what can be done for those patients who did not find an answer via exome sequencing? Those remaining 70-75% of individuals, along with their clinicians, must wonder, “so what now?” 

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Topics: genetic testing, exome sequencing, Medical EmExome, Deletion/duplication

AAO Recommendations for Genetic Testing of Eye Disorders

Posted by Eleina Cox on May 5, 2016 11:00:00 AM

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.

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Topics: genetic testing, Inherited Eye Disorders, ocular genetics

Comprehensive Genetic Testing for Autism

Posted by Eleina Cox on Apr 14, 2016 11:00:00 AM

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.  

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Topics: neurogenetics, genetic testing, Autism, Autism Spectrum Disorder

Colorectal Cancer: Hope Against All Odds

Posted by Antonio Shaw on Mar 17, 2016 12:15:00 PM

Colorectal cancer is the second most deadly form of cancer in the United States, second only to lung cancer. In fact, 1 in 20 people will be diagnosed with colorectal cancer in their lifetime. However, even with such grim numbers, this cancer does not have to be as deadly as it has been historically. Continue reading for general information, statistics, and online resources that may help you beat the odds against this disease.

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Topics: genetic testing, colorectal cancer, cancer, screening, statistics

Video: EGL Medical EmExome: Clinical Exome Sequencing

Posted by Wendy Sheats on Jan 28, 2016 11:00:00 AM

Medical EmExome: Clinical Exome Sequencing

The Medical EmExome is the result of a multi-center collaboration between Emory University, Harvard University, and Children’s Healthcare of Philadelphia. With more than 45 years of clinical experience, EGL is truly an expert in clinical genetics diagnostic testing and variant classification.

Check out the video below for more information on EGL's Medical EmExome as well as insight into incorporating exome sequencing into clinical practice.


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Topics: genetic testing, exome sequencing, Medical EmExome

Video - Genetic Testing for Neurologic Disorders at EGL

Posted by Wendy Sheats on Dec 31, 2015 11:00:00 AM

The growing body of evidence supporting the role of genetics in neurologic disorders has resulted in neurogenetics becoming an increasingly discussed topic within the healthcare field, promoting genetic testing as a valuable tool at the clinician’s disposal. However, with so many testing options available and the genetic etiology of some neurologic conditions remaining unclear, multi-factorial, and requiring additional patient counseling, where does one begin to incorporate genetic testing into the treatment paradigm?

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Topics: neurologic conditions, neurogenetics, genetic testing



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