While much of modern medicine emphasizes the science, what can make the biggest difference in quality care remains an art. Continue Reading
December 6, 2013
The simplest way to raise awareness about Down syndrome this holiday season
In 2007, I attended my first ever National Down Syndrome Congress conference. Campbell Brasington, a genetic counselor from Charlotte, North Carolina, shared the simplest way to raise awareness about Down syndrome and engage in medical outreach. Continue Reading
November 14, 2013
When expectant moms learn more about prenatal testing, what do they choose?
Yesterday's post shared how the Department of Defense/Veterans Administration guidelines recognize the need for genetic counseling when offering prenatal testing. One of the methods was group counseling, in which the guidelines said participants learned best as compared to individual counseling or decision aids. What do participants choose then, that have learned best through group counseling? Continue Reading
November 4, 2013
We are all uniquely written (not like a set of encyclopedias)
In 2008, I attended the American Congress of Obstetricians & Gynecologists (ACOG) annual convention where the keynote address compared our genetic code to a set of encyclopedias. Here's how newer genetic testing is rewriting this metaphor for who we are. Continue Reading
October 25, 2013
Should we conserve disability?
Today, I am on the road to New Orleans for a wedding this weekend. But on the flight back from the ASHG conference in Boston, I read an article that made me think differently about disability. It made "The Case for Conserving Disability." Continue Reading
October 21, 2013
What do you call someone with Down syndrome?
October is National Down Syndrome Awareness Month. So, what do you call someone with Down syndrome? Continue Reading
October 9, 2013
Why is Down syndrome a syndrome?
October is National Down Syndrome Awareness Month. In previous posts, I've discussed what is Down syndrome and why the condition is called "Down syndrome." But why is it a "syndrome?" Continue Reading
September 4, 2013
Emily Oster’s Expecting Better, Part I: Prenatal Screening’s Panicky Reassurance
Emily Oster is an economics professor at the University of Chicago who recently published her take on pregnancy, Expecting Better. In the promotion of the book, along with drinking during pregnancy and bed rest, prenatal testing is one of the highlighted points where Oster's book promises to buck conventional wisdom. Continue Reading
July 30, 2013
How accurate is the new blood test for Down syndrome?
When receiving a test result from the new blood test for Down syndrome that says "positive," do patients understand there may be a one-in-five chance of a false positive? Or even a one-in-two, depending on the mother's age? Even genetic counselors admit this is difficult to grasp. Continue Reading
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