Emory Genetics Lab Blog

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

October is Gaucher Disease Awareness Month!

Posted by Derek Stevens on Oct 13, 2016 11:00:00 AM

October is designated as Gaucher Disease Awareness Month and to increase awareness, we invited guest blogger, Dawn Laney, the founder and CEO of ThinkGenetic.com and a certified clinical genetic counselor, to share important information about this metabolic disorder. As you read her contribution, we hope you learn helpful information about Gaucher disease and where to find invaluable resources.

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Topics: awareness, Gaucher disease, rare disease

My Beautiful CHILD: Zachary & Grace

Posted by Eleina Cox on Oct 4, 2016 11:00:00 AM


“It was clear to us that our children did not have random birth defects, but some sort of syndrome.” Parents who advocate for their children, especially those who are members of the “My Beautiful CHILD” community, may be all too familiar with this statement. Being aware and keeping track of your child's physical and development health, noticing differences, and having concerns can be understated necessities to parenting.

As you read this compelling story about Zachary and Grace, beautiful siblings diagnosed with a disabling genetic condition, you will be exposed to the difficult turns the diagnostic process can take and how their family has experienced numerous ups and downs. They overcame those obstacles to uncover their diagnostic footprint and discover how love and hope can shape a perfect family.





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Topics: Congenital Disorders of Glycosylation, CDG

EGL Supports Limb-Girdle Muscular Dystrophy Awareness Day

Posted by Derek Stevens on Sep 29, 2016 11:00:00 AM


 Limb-girdle muscular dystrophy (LGMD) is a descriptive term applied to a clinically and genetically heterogeneous group of childhood- and adult-onset muscular dystrophies. LGMD is characterized by weakness and wasting restricted to the limb musculature; usually proximal muscles early on, then distal muscles later. There are more than 50 genes associated with LGMD that have various modes of inheritance. This, combined with a vast variability in age of onset, progression, and distribution of weakness, makes the diagnosis of a specific subtype of LGMD a challenge. And for some individuals, the science of genetics hasn’t caught up to their clinical diagnosis.

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Topics: LGMD Awareness Day, LGMD, Limb-Girdle Muscular Dystrophy

CDG Care Mission and Purpose: Making a Difference in the CDG Community

Posted by Danyella Davis on Sep 15, 2016 11:00:00 AM

Thanks to Andrea Berarducci, CDG CARE President, Community and Parent Representative for this blog contribution in support of EGL's My Beautiful CHILD campaign.

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Topics: Congenital Disorders of Glycosylation

How Sickle Cell Disease Changed My Life

Posted by Danyella Davis on Sep 1, 2016 11:30:00 AM
According to the Center for Disease Control and Prevention (CDC), sickle cell disease (SCD):
  • Affects approximately 100,000 Americans.
  • Occurs in about one out of every 365 African-American births.
  • Affects about one out of every 16,300 Hispanic-American births.

But behind these statistics are children and families affected by this debilitating genetic condition. EGL and the "My Beautiful CHILD" community are pleased to support Sickle Cell Disease Awareness Month by promoting education and advocacy for those impacted by SCD, and sharing stories such as this month's featured "My Beautiful CHILD," Nazhi. A powerful 12-year old shares her journey with SCD and her early contribution back to others impacted by this genetic condition.


Our thanks to Nazhi, our youngest blog contributor and recent participant in the EGL My Beautiful CHILD campaign.

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Topics: Sickle Cell Disease

Spinal Muscular Atrophy Community Celebrates SMA Awareness Month in August

Posted by Danyella Davis on Aug 11, 2016 12:00:00 PM

Thanks to Colleen McCarthy O'Toole with Cure SMA for this blog contribution that first appeared in Global Genes.

What is spinal muscular atrophy, who is affected, and how can you make a difference? To learn more, click here. 

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Topics: neuromuscular disorders, Spinal muscular atrophy

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

Freeing the Data with EmVClass: Variant Classification Database

Posted by Eleina Cox on Jun 2, 2016 12:00:00 PM
EmVClass is an abbreviation for Emory Genetics Laboratory's Variant Classification Catalog. EGL is the only clinical genetics laboratory offering free, online, no registration required, open-access to all sequence variants detected and analyzed by the lab. EmVClass serves as a model for “Freeing the Data,” a campaign to encourage clinical genetics laboratories to share data, in which variants are identified and classified accordingly. Being a major data contributor to NCBI's ClinVar, EGL supports the sharing of variants to advance research designed to identify potential treatments for genetic conditions. Continue on to learn how to use EmVClass.
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Topics: variant classification, variant interpretation, EmVClass



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