- By Jennifer Herrera-Mullar, MGC, CGC, DMA
- Posted July 2, 2024
The Evolving Landscape of Gene-Disease Validity Curation and Its Impact on Clinical Utility
In the ever-evolving field of genetics, understanding the relationship between genes and diseases is crucial for improving patient care. Gene-Disease Validity (GDV) scoring plays a pivotal role in this process, helping genetic counselors and healthcare professionals assess genetic risks and enhance medical management. As GDV scoring techniques…
- By Carrie Horton, MS, CGC
- Posted May 30, 2024
Research Recap: Determining Gene-Disease Validity in POT1 Tumor Predisposition
Germline variants in POT1 have been implicated in predisposition to melanoma, sarcoma and glioma. However, these tumor associations have been derived from very small studies, or those with cohorts highly ascertained for specific cancers. In our recent study in Genetics and Medicine regarding POT1 tumor predisposition syndrome, Ambry set out to…
- By Alice Lam
- Posted July 22, 2020
Hereditary Cancer Testing Menu Update
NOW AVAILABLE FOR ORDERS ON/AFTER JULY 22ND We are refreshing our hereditary cancer test menu based on the latest medical management guidelines, clinical literature, and customer feedback to deliver the most up-to-date, clinically relevant testing options to healthcare providers and patients. Contact your regional Account Executive or Genomic…
- By Layla Shahmirzadi, MS, CGC, LGC
- Posted September 4, 2018
3 Things You Need to Know about OvaNext
Ovarian cancer can often appear quietly, with non-specific symptoms, making it difficult to detect at an early stage. Knowing if someone is at an increased risk for ovarian and other cancers can be critical for guiding early detection, prevention, or treatment. Genetic testing can help identify patients with hereditary cancer, allowing for personalized…
- 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 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 Taylor Leigh
- Posted August 15, 2017
Ambry Advances Understanding of Human Disease Through Epilepsy Gene Research
At Ambry, we believe working together is better, that sharing data is essential to finding answers faster. Our scientists embody these beliefs by collaborating with other talented researchers and physicians to understand human disease, most recently in epilepsy genetics. We are proud to have contributed to the clinical research reviewed…
- 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 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 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…