We know there are healthcare disparities among racial and ethnic groups; these disparities also impact genetic testing. Research and clinical studies have lacked diverse representation and have been predominantly composed of people with European ancestry. As rates of testing have rapidly increased, this gap has only widened. This means much of…
Norma was a healthy, active 65-year-old woman who was rarely sick and had always been proactive about her health. She went to her internist complaining of weight gain, abdominal discomfort, and a chronic cough. When the diagnosis was finally made, Norma had stage 4 ovarian cancer. She endured nine hours of surgery, countless rounds of chemotherapy,…
The adage “knowing is half the battle” describes Trinity Chappelear perfectly. Her dear friend Brandi Preston lost her mother to breast cancer at age 14, spurring Preston to start The Kamie K Preston Hereditary Cancer Foundation, based in Omaha, Nebraska. The non-profit is devoted to educating and supporting awareness for genetic testing to…
My Faulty Gene is a nonprofit organization that provides information and assistance to individuals whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. They believe that everyone in need of genetic testing should have access to it. We sat down with Kathy…
When Jaime Burguieres was young, her 43-year-old maternal aunt was diagnosed with breast cancer. Burguieres watched her vivacious aunt go through painful radiation and chemotherapy treatments that seemingly eradicated her cancer at the time. A few years later, her aunt was diagnosed with Non-Hodgkin’s Lymphoma in the breast, stomach, and hip,…
An estimated 266,000 women and 2,500 men will be diagnosed with breast cancer this year alone, and up to 10% of these may be hereditary. That’s over 26,000 patients and families whose lives could be significantly impacted by genetic testing, which can help guide personalized risk counseling and medical management. Multigene panels, like BreastNext,…
Throughout the month of June many 5ks will be run, fundraisers and educational fairs will take place, and blue will be worn, all in the name of Men’s Health. In the U.S., June is designated as Men’s Health Month while June 11-18 is recognized internationally as Men’s Health Week, with goal of both to “heighten the awareness of preventable…
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…
Identifying patients with hereditary cancer is critical, so that you can gather additional information for personalized risk counseling and management planning. The first step is to use personal and family history information to find out which patients may be candidates for genetic testing. With tools like our hereditary cancer questionnaire,…
It has been an exciting and busy year at Ambry Genetics, packed with steps forward on our path towards understanding all human disease. We have continued our dedication, not only to quality testing, but to innovation, research, and patient advocacy. As we reach the end of 2017, we look forward to an even more impactful 2018 and working together…