Decisions, Decisions. Noninvasive Prenatal Testing OR Maternal Serum Screening OR both OR neither?

Better Health

When noninvasive prenatal testing (NIPT) first became a reality nearly a decade ago, many involved in the care of pregnant women (clinicians and laboratorians alike) saw it as a game-changer. They thought the standard screening option for chromosomal abnormalities, maternal serum screening (MSS), would soon be obsolete.  NIPT is a powerful test for Down syndrome […]

Thanks for the answer, but that wasn’t my question: The pros and cons of secondary findings.

Better Health

With the advent of exome and genome testing, laboratories began to identify changes in genes (variants) unrelated to the primary reason for genetic testing. These findings became known as “secondary findings.” There has been debate among providers since the American College of Medical Genetics and Genomics (ACMG) published and then revised their recommendations for a […]

MTHFR: Insights to Action

Better Health

M-T-H-F-R, 5 letters that often cause confusion among many healthcare professionals that stems from a large amount of conflicting information in the literature, as well as misinformation from the internet. Patients requesting MTHFR testing often do so after hearing that a family member tested “positive,” or after reading internet claims. MTHFR has been blamed for […]

Maddy Boehme’s Journey with Autoimmune Encephalitis

Better Health

In the field of rare diseases, all too often patients can find themselves caught in a long, stress-invoking diagnostic odyssey. Finding a name for the condition that plagues them can take many years that are filled with seemingly endless tests, procedures, and physician visits. Here is Maddy Boehme’s story about her search for a diagnosis. […]

Alzheimer’s Awareness Month

Better Health

For most of us, our memories are the most precious thing in the world—an incredible collection of experiences that have shaped us into the people we are today. But what happens when those memories are gone? I’ve experienced this personally with friends and family members. I’ve watched with my own eyes as someone I loved […]

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. […]

Modified Two-Tier Testing (MTTT): A Faster Lyme Disease Diagnosis

Better Health

Lyme disease is a growing health issue; in fact, according to the Centers of Disease Control and Prevention (CDC), recent estimates suggest that approximately 300,000 people may get Lyme disease each year in the United States.1 Treatment is more effective if begun early, and an updated recommendation from the CDC paves the way for earlier […]

Quest Advanced™ Neurology gets Creative During COVID: Pivoting to Remote Teaching

Better Health

Quest Advanced Neurology recently launched a novel genetic counseling rotation developed by Sarah Witherington, CGC, Sr. Product Manager, that is dedicated to product management and other emerging career paths for genetic counselors. As many hospitals and clinics were unable to host students during this time of social isolation, Sarah quickly responded to create a remote […]