Rare Diseases: Pathways to accelerating diagnoses March 13, 2024 Many of us have seen stories in the news about American families on diagnostic odysseys for their children with rare diseases. Recently, the Today Show highlig... Continue Reading
A New Outlook: How Carrier Screening Shaped One Family’s Future February 21, 2024 When Ashley Pantier and her husband decided to start a family, they were young, healthy, and filled with a sense of joyful optimism. After she became pregnant ... Continue Reading
Honoring those affected by rare diseases February 27, 2023 Quick — name three diseases that affect humans. We bet you came up with some of the most well-known, such as heart disease, cancer, Alzheimer’s, and COVID-... Continue Reading
New Guidelines Offer a More Equitable Approach to Carrier Screening February 16, 2023 It’s quite common for diseases, or the risk to develop disease, to be passed down through the generations in a family. Even people who don’t have the disea... Continue Reading
Maternal Health Is in Crisis. We Need to Change That Right Now. August 29, 2022 By Melissa Gonzales, president of Women's Health According to the World Health Organization, the U.S. is one of the most dangerous places in the world for a... Continue Reading
The impact of prenatal screening on parents and pregnancies February 5, 2022 There are many factors to consider when developing a genetic test or screen. Some common examples include sensitivity, specificity, cost, and turnaround time. T... Continue Reading
Even before birth, genetic screening provides insights for family planning January 18, 2022 We at Myriad Genetics became champions of genetic testing and screening for a simple reason: to allow providers to empower patients to be proactive about their ... Continue Reading
Expanded Carrier Screening is Important for All Who are Pregnant or Considering Pregnancy September 18, 2020 By Dr. James Goldberg, M.D. “Is my baby healthy?” was one of the most asked questions I received when I was in clinical practice. While there i... Continue Reading
Spinal Muscular Atrophy: Are you 1 in 50? August 6, 2019 This month, we are striving to bring awareness to spinal muscular atrophy (SMA), a serious inherited condition caused by changes in the SMN1 gene... Continue Reading