What’s in a Name? Classifying Variants in Our Genetic Code

Better Health

The question: What does this report mean? You are treating a patient you think has cystic fibrosis. You order full genetic sequencing for the gene that causes cystic fibrosis (CFTR), and the report reads: two variants identified, one “pathogenic” and one “variant of uncertain significance.”  What does this mean? Does your patient have cystic fibrosis? […]

Genetic Counselor poster presentations in 2020: the research goes on.

Better Health

During 2020, so many aspects of medical education and research changed because of the pandemic. Conferences adjusted and went virtual but still needed to continue to promote research and support continuing education. Genetic counselors with Genomic Services led and presented several projects at various meetings throughout 2020 and we would like to provide a summary […]

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 […]

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 […]