- By Carrie Horton, MS, CGC
- Posted October 3, 2018
Science In 60: Looking Beyond BRCA 1/2 to Identify Women at Risk for Breast Cancer
The adoption of multi-gene panel testing (MGPT) has been a game changer in the hereditary breast cancer arena. As evidence surrounding the growing number of breast cancer predisposition genes has accumulated, ATM, CHEK2, and PALB2 have stood out and become undisputed susceptibility genes conferring a moderate risk for…
- By Deepali Shinde, PhD
- Posted September 19, 2018
Finding Answers Through Quality Exome Testing
Did you know that of the nearly 20,000 genes that humans possess, only a quarter are currently known to cause genetic disorders? The remainder often referred to as “novel or candidate disease genes” are yet to be connected to a genetic condition, and many patients can remain undiagnosed until new disease gene discoveries are made. Less than…
- By Layla Shahmirzadi, MS, CGC, LGC
- Posted September 4, 2018
3 Things You Need to Know about OvaNext
Ovarian cancer can often appear quietly, with non-specific symptoms, making it difficult to detect at an early stage. Knowing if someone is at an increased risk for ovarian and other cancers can be critical for guiding early detection, prevention, or treatment. Genetic testing can help identify patients with hereditary cancer, allowing for personalized…
- By Tina Pesaran, MA, MS, CGC
- Posted August 23, 2018
5 Things You Need to Know about Ambry’s Variant Review Process
As a healthcare provider, you most likely hope for a genetic testing result that provides some kind of clear answer about what to do next. However, sometimes genetic testing will reveal a variant of unknown significance (VUS), which can be a challenge for both you and your patients. These variants are sort of “innocent until proven guilty”…
- By Shuwei Li
- Posted August 21, 2018
Science In 60: Tumor Characteristics Provide Evidence for Mismatch Repair Variant Pathogenicity
It is estimated that as many as 1 in 300 people may carry a gene mutation associated with Lynch syndrome. This is important to know because Lynch syndrome also puts individuals at a higher risk for many other cancers including colon, uterine, ovarian, pancreatic, stomach, liver and bladder cancer. The good news is genetic testing can determine…
- By Rhonda Lassiter
- Posted August 10, 2018
Science in 60: Attacking a VUS from Multiple Angles
Neurodevelopmental disorders (NDDs) involve a wide range of symptoms and severity. Individuals may present with multiple indications including epilepsy, autism, intellectual disability, developmental delay, dysmorphic features, and other congenital anomalies. The broad and nonspecific nature of NDDs can lead to significant diagnostic challenges.…
- By Brianna Volz
- Posted July 23, 2018
Fall Back into School: Educating Providers about Genetic Testing for HCM
Summer is half over and the start of school is around the corner. For many, the end of summer is characterized by last minute vacations, trips to your local retail stores and back to school sales. This time of year also serves as a reminder of the role genetic counselors’ play in educating our peers, students and colleagues[1]. Non-genetic…
- By Rena Pressman, MS, CGC
- Posted July 17, 2018
5 Benefits I Learned from Fragile X Patients and Their Families
July is National Fragile X Awareness month. After spending the past two days speaking with those impacted by Fragile X syndrome including patients, parents and world-renowned experts at the 16th International Fragile X conference, I’ve learned there are 5 important and often overlooked benefits of having a Fragile X syndrome diagnosis. 1- Having…
- By Aaron Elliott, PhD
- Posted July 13, 2018
Quality and Experience Bring Value to Genetic Testing
Ambry was founded with one goal– help patients and families. It is with this goal in mind that we design every test, accession every sample, interpret every result, and generate every report. Prior to becoming CEO at Ambry, I held various positions here, including Chief Scientific Officer for 5 years. Our motto is to design, validate and perform…
- By Jessica Ordonez, MS, CGC
- Posted June 28, 2018
Benefits of Utilizing Family History & Clinical Data Management Tools to Maximize Efficiency and Productivity in Clinical Cancer Risk Assessment
As a genetic counselor, creating a family history is one of my greatest tools for clinical practice. It helps me assess an individual’s risk for a particular genetic condition, establish rapport with my patient, and educate on the features and variability of a genetic condition. For many years, family history was a manual process, where stencils…