- By Jodi Tahsler
- Posted November 10, 2022
A Q&A with My Faulty Gene founder Kathy Baker
My Faulty Gene is a nonprofit organization that provides information and assistance to individuals whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. They believe that everyone in need of genetic testing should have access to it. We sat down with Kathy…
- By Noelle Carbognin
- Posted February 17, 2022
Thanks to Genetic Testing, I Now Know My Cancer Risk
“It’s one thing to be scared to hear something, it’s another to die from not hearing something at all.”—Rick, Colon & Kidney Cancer Survivor (American Cancer Society) When I was twelve years old, my cousin was diagnosed with Stage 4 colon cancer. She was only 24. My mother knew my grandfather on…
- By Alexandria Meyer
- Posted November 8, 2018
I am a Genetic Counselor- What Does That Mean?
“Genetic counselor” is not just a job title, though it is one that I have been enormously proud to carry for the past 10 years. In that time, I have come to primarily think of “genetic counselor” as a term which embodies a skill set. Just like Liam Neeson in “Taken,” we have a very special set of skills, however, our skills allow…
- 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 Jessica Profato, MS, CGC
- Posted June 8, 2018
I Survived Cancer, so Why do I Need Genetic Testing for it?
As a clinical genetic counselor, I saw many cancer survivors for genetic counseling. In some cases, it had been 30-40 years since they were diagnosed. Some of them were in their 60s-70s when I saw them, but they were young at the time of their cancer diagnosis. Years later, they were referred to me to talk about the possibility that their history…
- 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.…
- By Amanda Sheldon
- Posted February 28, 2018
Finding the Missing Link of Heart Disease in Families: Familial Hypercholesterolemia (FH)
Many people have friends and family members who tell stories of losing their father when he was 40, or having a mother who had a heart attack in her 30s. These same people may even know that they have high cholesterol, and sometimes are told it is inherited. What they don’t know is that this condition could be familial hypercholesterolemia (FH)…