Genome sequencing of entire family makes medical history
SALT LAKE CITY, Utah — A family in Utah has made medical history by being the first in the world to have their entire genome sequenced. Scientists examined each of their 22,000 genes in a successful effort to find the cause of their rare disorder. Simple tasks take longer for Heather and her brother Logan. They both have Miller Syndrome — a disorder that causes face and limb malformations. The two also have a lung disorder known as PCD. Only about 30 people in the world are known to have Miller Syndrome. The chance of Heather and Logan having it and their lung disorder is said to be one in 10 billion.
Despite their rare condition, both of Logan’s and Heather’s parents are healthy. That’s what led them to become the first family in the world to have their entire genetic code sequenced. Now — they know for sure their problems are genetic. “It’s given us peace. It’s given us answers,” said Heather and Logan’s mom Debbie. “I was really happy. Finding out that Miller Syndrome is genetic helped resolve some feelings of not belonging.” Doctor Lynn Jorde, human genetics chair at the University of Utah, started the family on this journey. He’s debbie’s husband, the children’s stepfather. Jorde’s team worked about a year to pinpoint the recessive genes from each parent that caused the kids’ disease. “And you can’t really figure out how to fix something until you know what’s really broken,” said Dr. Jorde. The discovery doesn’t change life or treatment for Heather or for Logan, but they’ve made medical history. “It’s great to have that place in the world, that my existence has a marker, a permanent marker.” In 2009, it cost about $25,000 to get a person’s genome sequenced. Today, the cost is below $5,000 per person. Researchers believe family sequencing could one day become a normal part of a person’s medical history records.
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