According to the headline of a Yahoo News article, “the dawning of the age of genomic medicine” is upon us. There has been little impact of genomics but “that is finally changing,” says Julie Steenhuysen, the author of the article.
I was curious how this would be argued. Here’s how:
Sambrookes had been very athletic as a young teen, but as she matured, she noticed a heaviness in her legs. By age 20, running left her tired. At 40, she needed a pacemaker, just like her mother did at that age.
“I started thinking there is something to this,” said Sambrookes, now 56, who lives in Michigan City, Indiana.
After some dead ends, she found McNally, who cast a wide net, testing for more than two dozen genes that could account for Sambrookes’ heart and muscle problems.
The culprit turned out to be a mutation in a gene called Lamin that causes Limb-girdle muscular dystrophy. The disease can cause weakness and wasting of the muscles between the shoulders and knees. The mutation can also cause electrical disturbances of the heart.
McNally recommended Sambrookes replace her pacemaker with an implantable cardiac defibrillator that could protect against sudden cardiac death.
That proved to be the right call. Last August, Sambrookes’ heart stopped three times. Each time, the defibrillator shocked her back to life.
“She literally tried to die three times,” McNally recalls of her patient. “It still takes my breath away.”
Because someone recommended a pacemaker be replaced with a defibrillator, genomic medicine is a good idea. The benefits of genomic medicine must remain elusive if you have to use such a poor example to support it.