- 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 Jonathan Rodis, MBA
- Posted May 11, 2017
Living with Marfan Syndrome: Part 2 of 2
It’s now 1990, and I’ve now had my life-saving heart surgery. After spending nearly a month in the hospital with health complications, I was finally able to go home. After another month at home trying to recover, I decided to head back to work to continue the job and career that I worked long and hard to achieve in executive management and…
- 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 Jacqueline Washle
- Posted May 4, 2017
Surfing with a Purpose: How the Mauli Ola Foundation Helps People with Cystic Fibrosis
Editor’s Note: In honor of Cystic Fibrosis Awareness Month, we asked Jacqueline Washle, Ambry’s Community Outreach Manager, to tell us about the Mauli Ola Foundation, which supports people with cystic fibrosis and other inherited conditions as part of its mission. Did you know that going to the beach is not only a fun pastime for…
- By Brittney Murray, MS, CGC
- Posted April 27, 2017
Using Technology to Help with your Genetic Heart Disease Risk
Technology is everywhere. It has become pervasive in our lives. Phones and computers became smaller, smaller, and then somehow bigger and bigger again as our phones become our new computers. Increasing technological advances are also propelling healthcare: newer techniques, smarter robotics, and new drugs. Within genetics, testing techniques…
- 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…
- By Jonathan Rodis, MBA
- Posted April 13, 2017
Living With Marfan Syndrome- Part 1 of 2
Editor’s Note: We are so pleased to continue introducing new voices into the Ambry patient blog. This week we are honored to have Jon Rodis, patient advocate, tell us what it was like to be diagnosed with Marfan syndrome, an inherited condition that can cause heart problems, many years ago – well before genetic testing became available…
- By Deepti Babu, MS, CGC
- Posted April 10, 2017
Can Patients with Hematological Cancer Have Genetic Testing?
The short answer is: Genetic testing is possible, but depends on other factors. The question of whether genetic testing is possible for patients with a history of hematological cancer comes up often in the clinical setting and in the testing laboratory. This makes sense since genetic testing is performed on DNA isolated from white blood cells…
- By Tiffany Au
- Posted April 6, 2017
What is Life Like for Someone with Autism? (Part 1 of 2)
Editor’s Note: To help support National Autism Awareness Month, we are sharing our interview with Kieran Best, a 14-year-old young man with an autism spectrum disorder. Kieran graciously shared insights into what his day-to-day life is like and offered words of wisdom to others who may be in his situation. Check back in two weeks to read our…
- By Deepti Babu, MS, CGC
- Posted April 3, 2017
Current Genetic Testing Guidelines Miss Some Families with CDH1 Mutations
Hereditary diffuse gastric cancer (HDGC) is an inherited cancer syndrome caused by CDH1 gene mutations. It occurs most frequently in Japan and eastern Asia; current incidence in the U.S. is estimated at 10-40 individuals per 100,000.1 Individuals with mutations in the CDH1 gene have up to an 80% lifetime risk of diffuse gastric…