- 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…
- By Billy Chen
- Posted June 25, 2018
Coming of Age: Whole Exome Sequencing
Whole exome sequencing (WES) is an efficient way to identify genetic variants in all of an individual's genes. It does this by sequencing the functionally relevant regions of approximately 20,000 genes of the human genome. Compared to traditional genetic testing trajectory, which tends to be more time-consuming, recent studies indicate WES can…
- By Brooke Overstreet, MS, CGC
- Posted May 15, 2018
Increase the Detection of Patients with Hereditary Cancer
Identifying patients with hereditary cancer is critical, so that you can gather additional information for personalized risk counseling and management planning. The first step is to use personal and family history information to find out which patients may be candidates for genetic testing. With tools like our hereditary cancer questionnaire,…
- By Kelly D. F. Hagman, MS, CGC
- Posted May 11, 2018
Free CEUs For Genetic Counselors | EducateNext
For years, Ambry has been offering educational webinars to our employees as a way to make sure genetic counselors across multiple functions within the company were always up to date on the latest research. Now, we are opening up this program to all genetics professionals, in the form of a new program called EducateNext. This program will present…
- By Stephany Tandy-Connor, MS
- Posted March 28, 2018
Genetic testing at home or from the doctor’s office – same difference?
There has been a lot of talk about Direct-To-Consumer (DTC) genetic testing and the caveats that come along with that type of testing, but what does it all really mean? What is the actual difference between a DTC genetic test and a genetic test ordered by a medical professional through a clinical laboratory? There are several things that make…
- By Stephany Tandy-Connor, MS
- Posted March 22, 2018
False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care
The explosion of direct-to-consumer genetic testing over the last few years has created a ton of buzz, beyond just ancestry, health traits and wine preferences. Many of these DTC labs also release raw data to the consumer; this often leaves many individuals interested in what these findings mean and their potential impact on their healthcare management.…