Genome Cure for Ill Twins Paves Breakthrough to Doctor’s Office
January 30, 2012, 2:24 PM ESTBy John Lauerman
(PHOTOS: Noah and Alexis Beery are shown at their home in Olivenhain, California. Photographer: Tim Rue.)
Jan. 30 (Bloomberg) -- By the time his twins Noah and Alexis were 12 years old, Joe Beery and his wife Retta had spent a decade trying to figure out what made their children so ill. After Joe took a job at Life Technologies Corp., a California company that makes DNA sequencers, their luck turned.
The company’s machines revealed that the twins had been misdiagnosed and incompletely treated for more than a decade. New medication put an end to an illness that had caused vomiting, muscle weakness and seizures. Their daughter, who had spells of breathing difficulties that turned her skin blue, was healthy again.
“Genome sequencing literally saved her life,” Retta Beery said.
Nine years after scientists sequenced the first complete human genome -- the instruction manual for making all the body’s cells -- the industry is poised for a series of takeovers and breakthroughs that will bring the technology into doctor’s offices and patient hospital rooms. Equipment made by Life Technologies and Illumina Inc. is spewing out human genome sequences faster than ever and prices will soon drop to $1,000, below that of many widely used diagnostic procedures, such as colonoscopies.
Roche Holding AG’s hostile $5.7 billion bid for Illumina las week may spark additional deals as pharmaceutical and diagnostic companies race to bring DNA scanning into routine medical use, analysts said.
The surge in clinical use of genomics will increase the global market for sequencing products to about $10 billion from the current $1.5 billion over the “next few years,” according to Life Technologies Chief Executive Officer Greg Lucier. Ross Muken, an analyst with Deutsche Bank AG in New York, said it may take 15 years for the sequencing market to reach Lucier’s estimate.
Huge obstacles loom. While the Beerys benefited from Joe’s job at Carlsbad, California-based Life Technologies, whole genome sequencing isn’t routinely covered by insurers. The procedure remains inaccessible to most patients unless they have the persistence to be chosen for clinical research studies or can pay out of pocket.
Just as important, the volume of data that needs to be organized and analyzed is smothering efforts to make the genome applicable to day-to-day medicine. Each person’s DNA code contains 6 billion chemical letters, called bases, and differs from what’s considered “normal” at more than 3 million of those points. Doctors are still learning the medical significance of the millions of variations.
Even if it costs just $1,000 to sequence a genome, there are questions that must be answered before insurers will pay for it, said Susan Pisano, a spokeswoman for America’s Health Insurance Plans, a Washington-based industry group.
“It’s whether there’s evidence that it makes a difference to the health of individuals,” Pisano said. “Are we confident that there’s an adequate level of accuracy? And what are we going to do with the results?”
Most sequencers are high-powered cameras costing from $50,000 to $700,000 that can read and arrange the four chemical bases of DNA -- called A, C, G and T -- quickly, accurately and in order. DNA from a person’s tissue is chopped into pieces, assembled on a slide, and the four bases are labeled fluorescently or with some other marker, so they can be detected by a camera. Finally those millions of pieces are reassembled into one single DNA sequence.
The next challenge is developing software and gadgets to help put sequencing information to use in hospitals and physician offices. Google Inc.’s Google Ventures fund, which invests as much as $200 million annually in startups, has put a “significant” chunk of its money into companies aiming to speed the use of the genome, said Krishna Yeshwant one of its partners.
Closely held companies such as GenomeQuest, based in Westborough, Massachusetts; Emeryville, California-based Omicia Inc.; and Softgenetics LLC in State College, Pennsylvania, are making software to search through gene variations and find those that are “actionable,” for doctors trying to diagnose and treat disease. Knome Inc., co-founded by Harvard Medical School geneticist George Church to sequence genomes for the public, has reorganized as a DNA analytics company, and will begin licensing software to hospitals and clinics this year, said Jason Lee, chief marketing officer.
The Beerys’ introduction to sequencing began at a 2008 job interview. Joe, 49, was chief information officer at US Airways Group Inc. and Greg Lucier, chief executive of Invitrogen -- which later became Life Technologies -- was trying to recruit him.
At a dinner overlooking the Pacific shore in Del Mar, California, the Beerys described to Lucier and his wife how their children had been misdiagnosed with cerebral palsy at the age of 2. Alexis had muscle weakness and general fatigue that worsened each day from the morning on.
Retta described scouring the literature for conditions that fit the strange symptoms. When the twins were 5 1/2 years old, she read about a rare disorder called a “dystonia,” caused by a deficiency of a nervous system chemical. It sounded similar to what the children were suffering from and was caused by a shortage of dopamine, a nervous system messenger molecule. Doctors treated the condition with a dose of a drug called Sinemet.
“Alexis took a quarter of a pill, and she slept through the night for the first time in her life,” Retta said.
Lucier told the Beerys that Invitrogen was about to purchase a sequencing company called Applied Biosystems, a move that would later result in the company being renamed Life Technologies. Applied’s sequencers had the potential to find faulty genes in children in just weeks or months, rather than the years-long odyssey the Beery twins, then in their early teens, had endured, Lucier said.
“On the way home, I already knew that this was a company that I wanted to be a part of,” said Joe, who signed with Life Technologies within about eight weeks.
A few months after that, the Beery twins’ treatment started to lose effectiveness, and some of the children’s symptoms reappeared. Alexis’s were particularly frightening and severe. During a two-month period, she went to the emergency room seven times because she was turning blue from lack of oxygen, Retta recalled.
A thought began to take shape in Retta’s mind: why not sequence the children’s genomes?
Through Life Technologies’ sequencing division, Joe and Retta got in touch with a team of doctors and scientists at Baylor College of Medicine’s Human Genome Sequencing Center in Houston.
The procedure revealed that the twins had been incompletely diagnosed. In addition to the dopamine deficiency, the dystonia was being caused by a second genetic mutation that interfered with a separate nervous system chemical, called serotonin. The twins’ doctors found that the dystonia could be fully treated with a serotonin replacement that was readily available through pharmacies. The change was dramatic: soon Alexis was back to school, track and basketball. A small dose also helped Noah, who had been less severely affected by the deficiency.
The Beerys said they hope more parents and children will be helped as they have been. Joe Beery said that while he and his family always prayed for guidance, they never dreamed that the answer to their children’s health mystery would arrive because he landed at a company that took a gamble on genome sequencing.
“The fact that I ended up where I ended up, you have to believe those prayers were answered,” he said.
--Editors: Jonathan Kaufman, Lisa Wolfson
-0- Jan/30/2012 19:02 GMT
To contact the reporter on this story: John Lauerman in Boston at jlauerman@bloomberg.net
To contact the editor responsible for this story: Jonathan Kaufman at jkaufman17@bloomberg.net.
