- By Jessica Profato, MS, CGC
- Posted July 26, 2017
Why Paired Tumor/Germline Testing?
Germline genetic testing is used by many labs to evaluate a patient’s predisposition to hereditary cancer, and produces excellent results in its analysis of many genetic conditions. However, when germline testing is combined with tumor testing as a single paired test, it may yield even more helpful results in certain situations. Specifically,…
- By Melissa Parra, MS, CGC
- Posted June 30, 2017
How to Build a Smarter Panel
At Ambry, we offer many different options for genetic testing, sometimes more than one for the same disease, which we call “panels”. Ambry’s multi-gene testing panels are comprised of genes that have a threshold of evidence between a gene and the disorder for which a patient is being tested. These panels are made up of genes that are known…
- By Pearl Yee, M.D.
- Posted June 27, 2017
Physician Spotlight: Integrating Genetic Testing for Hereditary Cancer Into Your OBGYN Practice
Genetic testing for hereditary cancer has evolved significantly over the past several years. We are continually learning more information about genes that are associated with increased risks for various cancers; and there are many different genetic tests available that can help you learn more precise information about your patients’ cancer risks,…
- By Deepti Babu, MS, CGC
- Posted June 7, 2017
Improve Patient Care by Reducing Ambiguity in Gene-Disease Relationships
New discoveries are rapidly expanding our understanding of the human genome, and diagnostic laboratories use different approaches to interpret this knowledge. A challenge for laboratories is translating vast amounts of published evidence to determine the clinical validity of gene-disease relationships, which need to be integrated into a patient’s…
- By Deepti Babu, MS, CGC
- Posted May 18, 2017
How are Direct-to-Consumer and Medical-Grade Genetic Tests Different?
As we find more ways to take charge of our health, genetic testing is becoming something that many consider and, in fact, has become easier to access than ever before. An appointment with a doctor or genetic counselor is no longer required to access genetic testing – for some types of genetic tests, it’s now possible to order a test kit online,…
- By Deepti Babu, MS, CGC
- Posted May 17, 2017
Lynch Syndrome - It's more common than you think
Did you know that more than 1 in 4 of those with Lynch syndrome (LS) are missed by current genetic testing guidelines? New research from Ambry Genetics and Ohio State University of nearly 35,000 patients will change how the genetics community thinks about genetic testing strategies, lifetime cancer risks, and medical management for people with…
- By Jackie Connor
- Posted May 8, 2017
Mauli Ola Foundation’s Surf Experience Day Tour Kicks Off in Honolulu
Cystic fibrosis (CF) is a progressive genetic disease that causes chronic lung infections and, over time, limits a person’s ability to breathe. More than 30,000 people in the United States are living with CF and about 1,000 new cases of CF are diagnosed every year. In 2006, a group of researchers based in Australia noticed that people who have…
- By Stephany Tandy-Connor, MS
- Posted May 4, 2017
Direct-to-Consumer Genetic Testing: Taking the Trend to the Next Level…Responsibly
Our DNA tells a story — it tells us who we are. With advancements in genetic testing and an increased awareness in personalized healthcare, interest in direct-to-consumer (DTC) testing is on the rise. DTC genetic testing companies have made limited genetic testing for the general population readily accessible to healthy individuals. However,…
- By Deepti Babu, MS, CGC
- Posted April 24, 2017
Piece by Piece: Exome Sequencing Helps Solve the Autism Puzzle
Autism spectrum disorders (ASDs) are neurodevelopmental disorders (NDDs) seen in 1-2% of children; symptoms and severity differ widely1,2,3, so they can be difficult to diagnose. ASDs can be inherited and involve numerous genes, which creates a challenge for single gene testing. How can genetic testing help children and families, if the child…
- By Jackie Connor
- Posted April 17, 2017
AmbryShare Extends Cohort Invite to Autism Clinicians and their Patients
Accurate genetic testing can help clinicians provide more individualized treatments for their patients, and the more genetic information a researcher has access to, the more targeted treatments can be developed. {Read: “For Your Breast Cancer Practice: Data From More Than 60,000 Refines Predisposition Gene Risks”} In March 2016, Ambry’s…