Genetic testing has emerged as a powerful tool in personalized medicine, offering insights into individual health risks, disease predispositions, and treatment options. However, its effectiveness relies on the accuracy of the results. We know that individuals from non-White populations receive less informative genetic testing results compared to…
Introduction Clinical genetic testing is a powerful diagnostic tool for neurological disorders. The utility of genetic testing can be diminished by the large number of variants of uncertain significance (VUS). Variant classification for neurological disorders has additional challenges because clinical evidence is often limited. The biggest limitation…
Every individual's genetic makeup is unique, containing the blueprint for their health, including susceptibility to diseases and potential response to treatments. But understanding your genes is like deciphering a complex code. DNA varies slightly from person to person, and interpreting the medical significance of those differences, or variants,…
“My advice for clinicians and healthcare providers who are ordering genetic testing is [that they] should feel that they are partners with the lab,” explains Chana Ratner, Genetic Counselor at Hackensack University Medical Center. We were grateful for the opportunity to connect with Chana and to discuss her experience as a clinical genetic…
In recognition of Colon Cancer Awareness Month, Ambry would like to share the story of Jane and Julie Smith (not their real names) – sisters and cancer survivors. Jane was diagnosed with colon cancer in 2004 at the age of 36. While she was concerned about her diagnosis and family history of ovarian cancer, genetic testing was not widely available…
The world of hereditary cancer testing is complex, but genetic information is crucial for flagging at-risk patients and their relatives. They might just benefit from earlier and more frequent surveillance and/or preventive surgeries. For those individuals who face important and difficult health decisions, genetic counselors are invaluable members…
It’s hard to believe that it has already been a year since we officially launched +RNAinsight, the first paired DNA/RNA genetic test for hereditary cancer. As we reach this milestone, I wanted to share with you why we set out to launch this product and reflect on our progress in finding more answers for patients. Ambry Genetics was founded with…
DNA-based multigene panel testing (MGPT) is a commonly used approach for the detection of patients with or at-risk for inherited cancers. Despite years of advancement in genetic testing, patients may still receive uncertain results or receive a negative result despite having a personal or family history suggestive of hereditary cancer. RNA genetic…
Genetic testing plays a critical role in the delivery of personalized medicine. Take, for instance, hereditary cancer, where genetic testing can help inform treatment and other management decisions for both individuals with an active cancer diagnosis and those at an increased risk for cancer. For the latter, genetic testing helps minimize their…
When it comes to medical questions, sometimes “unknown” is the worst answer you can receive. Uncertainty prevents a family from developing an action plan to combat bad news, or from achieving peace of mind when receiving good news. Yet for many patients who undergo genetic testing due to a suspected hereditary cancer syndrome, they are left…