As I was scrolling through my Facebook feed one morning, I noticed an article with a title starting with: “When Doctors are Wrong” with a picture of a newborn baby with a breathing tube in the NICU. I immediately opened the article and star…
Category: Genetics
When doctors are right
As I was scrolling through my Facebook feed one morning, I noticed an article with a title starting with: “When Doctors are Wrong” with a picture of a newborn baby with a breathing tube in the NICU. I immediately opened the article and star…
Are the concerns about consumer genetic tests overblown?
When the Human Genome Project began in 1990, bioethicists feared that giving people the results of genetic tests would do them a lot more harm than good. Experts feared that individuals who received genetic information about their future health status …
You can save your baby for $2 million. Can we afford to do this?
You can save your baby for $2 million. Can you afford to do this? If you cannot, should we all pay? Spinal muscular atrophy (SMA) is a rare genetic disease affecting the part of the nervous system that controls voluntary muscle movement. All types of S…
Will the public be able to resist the pitch from 23andMe?
Just because something is legal, doesn’t make it right. Just because we enjoy a right of free speech, doesn’t mean we should be verbally insulting people. Just because the Food and Drug Administration (FDA) approves a treatment or a test, doesn’t mean …
Is personalized medicine mostly marketing and hype?
“Personalized” medicine sounds appealing. Rather than just guessing at what medication to try, a genetic test can figure out, in advance, which medications will be effective and which medications are more likely to make you sicker. Except it doesn’t wo…
Horrific decisions that no parent should ever have to make
“Is she in pain?” I asked quietly as the pearlescent baby-shaped image on the screen folded its legs and then extended them. The radiologist doing my ultrasound had just finished pointing out a cluster of alarming abnormalities in our devel…
Before ordering a genetic test, get to know GINA
Health care providers and even consumers who order their own genetic testing should really get to know GINA. Who or what is GINA? Is it some new virtual voice-activated personal assistant? Is she a new Italian superstar? Neither choice is correct. GINA…
Before you delve into your DNA, be sure to seek out a well-trained genetics team
For $199 and a tube of saliva, I found out that I have straight hair and green eyes. Mirrors have been telling me this my whole life for free. But as a genetics counselor, I wanted to learn more about the recreational home genetics tests that have been…
MKSAP: 46-year-old man with intermittent rectal bleeding
Test your medicine knowledge with the MKSAP challenge, in partnership with the American College of Physicians. A 46-year-old man is evaluated for intermittent rectal bleeding of 3 months’ duration. He is otherwise well and takes no medications. His father had a few polyps removed from the colon when he was 71 years old, but no other details […]
