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 […]

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. […]

Know More About Yourself by Knowing Your Family Health History

Better Health

Most people understand the health benefits of a good diet and exercise.  Likewise, lifestyle, stress level, alcohol, and tobacco use, as well as exposure to environmental toxins can negatively impact health.   What is often overlooked, however, is the importance of knowing your family’s health history.  This history can provide insight into medical conditions that you […]

Celebrating 11 Years of Protections of Our Genetic Information

Insights

The Genetic Information Non-discrimination Act of 2008 (GINA) ensures that an individual’s genetic information can not be used for discriminatory practices.

Case Report of a Rare Fetal Chimera

Insights

Congenital chimeras are rare and often come to attention due to ambiguous genitalia or a discrepancy in the sex chromosome