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Genetically Speaking Blog

How to Navigate Imprecision in the Precision Medicine Era

Deepti Babu, MS, CGC 0 320

When it comes to genetics and what we can learn from it, the progress we’ve made can make your head spin. I became interested in a genetic counseling career in the late ‘90s, which feels like ancient history. Back then, I’d speak to families about the possibility of a genetic condition, but there likely wasn’t a genetic test available to tell us more. If we confirmed a diagnosis, there usually weren’t many treatments to help. We’ve come a long way.

How to Protect Your Mental Health When Genetics Make You Vulnerable

Jehannine Austin, Ph.D., CGC 0 1212

While many people know that genetic counselors work with families concerned about conditions caused entirely by genes, people are often less familiar with the idea that we also work with families affected by health conditions caused by a combination of genes and our experiences. Psychiatric disorders such as schizophrenia, depression, anxiety and bipolar disorder are a few examples. 

Code Talker Awards: Lisa Johnson A Rare Friend

Shana Anderson 0 708

Her voice was sweet, but the words hurt. There was nothing she could do to take the pain away or ease the sting. After four consecutive miscarriages, this pregnancy entered the second trimester, so we felt hopeful — but the celebration was short-lived. Our doctor found anomalies during the ultrasound. Visions of pink or blue became gray. We quickly learned what an enlarged nuchal fold meant — darker gray — and then chronic villus sampling (CVS) — darker gray.

Code Talker Awards: Hannah Scanga Amazing Grace

James McGowan 0 515

I am reminded of a line in the famous song “Amazing Grace.” I once was lost, but now am found, was blind, but now I see. My son, James, was born with a rare genetic disorder causing clouding to both of his eyes. By all accounts, he was blind. Today, James not only has vision, but he also, at 4 years old, attends school full time, recognizes pictures in books, and navigates environments comfortably. I directly attribute his success to the selfless service and expertise of Hannah Scanga.

Code Talker Awards: Margaret Au Our Superhero

Janice Hansen 0 548

What is a diagnosis worth? For my family, learning that our daughter, Amy, has the ultra-rare disorder xeroderma pigmentosum/ trichothiodystrophy (XP/TTD) complex after two decades of searching, the value is incalculable. For an insurance company, there is a definite amount — and in 2015 that amount was $9,500.

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