- 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)…
- By Jessica Profato, MS, CGC
- Posted February 15, 2018
Using Family History to Guide Cancer Prevention
There are many factors that impact your patients’ risk to develop certain cancers, including whether or not they have a family history of the disease, which can significantly impact the likelihood they may develop cancers such as breast, colorectal, and prostate. Individuals with a strong family history of cancer may have a hereditary cancer…
- By Aaron Schmidt
- Posted February 12, 2018
Science in 60 - Genetic Testing and Familial Hypercholesterolemia - (FH)
Editor’s Note: Science in 60 is a new video series from Ambry in which our researchers will give a brief overview of how genetic testing can help everyone understand disease. In this inaugural segment, Ambry genetic counselor Tami Johnston, MS CGC, looks at how genetic testing can improve the diagnoses and treatment plans for patients with…
- By Beth Kuhn
- Posted January 30, 2018
How I Got Ahead of Cancer After Learning About My BRCA2 Gene Mutation
After watching my mom and aunt battle bilateral breast cancer - which included chemotherapy, radiation, mastectomies (surgical removal of the breast(s)), and all the physical and emotional anguish that accompanies it – I learned that I carry a BRCA2 gene mutation. It runs in our family. I was told that my inherited BRCA2 mutation…
- By David Pfeifer
- Posted December 18, 2017
Have a Little Heart: The Growing Segment of Cardiovascular Genetics
From consumers, to physicians to genetic counselors, the importance of heart health is taking center stage in genetics. Clinicians from all specialties are recognizing the benefits of cardiovascular genetic testing; inherited arrhythmias, cardiomyopathies, thoracic aortic aneurysms, and familial hypercholesterolemia are becoming more commonly discussed…