The first thing Debbie Jorde noticed about her newborn daughter was that her arms were bent at unnatural angles. She had other problems, too: a cleft palate, eight fingers, eight toes and no lower eyelids. She would eventually be diagnosed with Miller syndrome, a disease so rare that doctors have long assumed that each case arises through spontaneous mutation, rather than being passed down through families. Doctors told Jorde that her chances of having a second child with the syndrome were less than one in a million.
They were wrong. Jorde’s son, born three years after his sister, had the same features. Lynn Jorde, Debbie’s current husband and a geneticist at the University of Utah in Salt Lake City, still cringes when Debbie recounts what the doctors had told her. “The right answer for that situation is that there have been so few cases that we really can’t predict the risk,” he says.
Thanks to next-generation genome sequencing, Debbie and her children now know the family’s genetic risks. Lynn and his collaborators had been talking about sequencing the genomes of an entire ‘nuclear’ family affected by a genetic disease, both to identify the mutation responsible and to investigate how genes are inherited in unprecedented detail. Debbie, her former husband and her now-adult children, Heather and Logan Madsen, were happy to be take part, and in 2009 became the first family in the world to have their genomes fully sequenced.
Read the full, original story: Human genetics: Genomes on prescription