The Presidential Commission for the Study of Bioethical Issues dove into the ethics of complete genome sequencing today in San Francisco, and it wasn’t long before they understood the benefits of the technology.
They heard a story about how the test saved a life.
Retta Beery, the mother of twins Alexis and Noah Beery, recollected a tale of assorted severe health issues affecting both of them, including a misdiagnosis of cerebral palsy when they were 2 years old; seeing dozens of medical specialists; and then learning on her own through a newspaper article about how the two had a rare disorder.
But after years of better health, in 2009, when Alexis Beery turned 13, she developed a new life-threatening complication. She had trouble breathing. In the space of two months, the girl was rushed to a hospital emergency room seven times, and she was given daily injections of adrenaline just to keep her air passageway open.
The Beerys decided they needed more information and turned to genetic testing at the Baylor College of Medicine Human Genome Sequencing Center in Houston. Beery’s husband, Joe, is the chief information officer at Life Technologies, a biotechnology systems and services company that helped fund the study at Baylor. Baylor also used the company’s sequencing technology, which helped determine that the twins carried mutations in a gene, causing their health problems.
The discovery led to new treatment, and the siblings are now in good health. Alexis is playing soccer and is on her school’s track team. Her mother showed a video today of the girl competing in the long jump.
“We had black and white evidence on what was going on with Noah and Alexis,” Retta Beery said. “We got the whole picture for the first time. We had a new path to follow.”
During the question and answer period, Commission member Lonnie Ali asked Beery whether she had worried about the consequences of going public with the story of her family.
“This must have weighed on you as a mother, but how concerned are you with these issues of privacy for these children as they try to seek insurance coverage,” Ali said.
Beery said that she and her husband talked about it but saw the benefits of helping other was more important than potential risks.
“We believe this saved Alexis’ life, and … her life far outweighed the privacy issues,” she said.
She said so far they have had no trouble getting health insurance for the family. She also said the testing gave them another gift: It revealed that their eldest son, Zach, did not have the genetic condition that caused the conditions affecting the twins. “We no longer have to worry that Zach will be affected in the future,” she said.