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 […]

To Test or Not to Test. When Cancer Runs in my Family.

Better Health

Maybe you have lived through a cancer diagnosis with a close family member, just heard about a relative with some type of cancer, or you are just curious about your chance of having a hereditary cancer syndrome. In any case, you are wondering if you should be thinking about genetic testing. Now what? “Genetic testing” […]

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 […]