Mini Genetic Mystery: Hereditary or Tumor BRCA2 Result? 3 Clues to Help Decipher

Better Health

During his routine physical exam, a patient informs you that his brother, who has prostate cancer, recently tested positive for a BRCA2 mutation. Your patient hands you his brother’s report and, at first glance, you agree that indeed his brother has a BRCA2 variant. You begin to consent your patient for genetic testing. But wait. […]

What’s the Difference Between Screening and Diagnostic Testing in Pregnancy?

Better Health

Pregnancy can be a time of great anticipation, excitement, and sometimes, anxiety. Navigating through the many different tests that are available can be confusing and overwhelming. Understanding what information a test can provide may help when deciding which tests to choose, and this is especially important for genetic screening and diagnostic tests. What is the […]

Hereditary Breast Cancer

Better Health

Breast cancer is the most common type of cancer in women.1 Fortunately, treatment options are available that can help save lives. Finding breast cancer before it spreads to other parts of the body is key. Of women who get breast cancer, 90% will live for 5 years or more; when breast cancer is found early, […]

When Molecular Genetic Testing is Not Enough: The Role of Biochemical Testing

Better Health

A female toddler presents to her pediatrician with liver dysfunction, mild developmental delay, and behavioral changes. What lab testing makes sense and why? With the advent of next-generation sequencing, there has been an onslaught of fast and affordable molecular genetic test offerings. As such, clinicians are turning to molecular tests earlier and more frequently in […]

Testing for an Incurable Disease: Points You MUST Consider

Better Health

In the era of genomic medicine, genetic testing is readily available for hundreds of inherited conditions. Insights from testing can include information about ancestral origins, hidden health risks, and reproductive risks. However, while access to genetic testing in the United States is widely available to patients and providers, the decision to undergo testing can be […]

5 Ways Genetic Counselors are evolving during COVID-19

Better Health

We are all trying to get used to this new “normal” during the COVID-19 pandemic. One thing we can all agree on­—going forward, the healthcare industry will work differently. Although not typically on the “front lines” of critical care, the field of medical genetics still has patients with many important needs that must be met. […]

Ovarian Cancer Awareness Month

Better Health

September is Ovarian Cancer Awareness Month: Genetic testing is an essential part of care for women with ovarian cancer and their families. 1 in 78 women will be diagnosed with ovarian cancer in their lifetime.1 In 2019, there will be an estimated 22,530 women diagnosed with ovarian cancer in the United States.1 While ovarian cancer […]

Raising Awareness of Fragile X Syndrome

Better Health

Fragile X syndrome, caused by an altered gene on the X chromosome, is inherited and there may be family characteristics that indicate if there is risk of carrying this altered gene.