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DNA sequencing celebrates its first decade

Dan Gorenstein Apr 12, 2013

DNA sequencing celebrates its first decade

Dan Gorenstein Apr 12, 2013

A few years ago, it cost Steve Jobs $100,000 to sequence his DNA; today you can get it done for less than $10,000.

This weekend marks the 10th anniversary of sequencing the first human genome, and the economics of DNA sequencing has shifted so dramatically that many say the next big thing in health care — personalized medicine — is already here.

Top-tier hospitals like the Children’s Hospital of Philadelphia, or CHOP, are quickly moving this technology out of the research lab into the doctor’s office as they race to get to in on the ground floor of what promises to be a billion dollar industry. You would think the new genetics lab at CHOP would look like some futuristic sci-fi movie set…with gleaming chrome tools and oversized computer screens.

Nope. Just a drab, gray room buried in a basement. Even the super, sophisticated $750,000 DNA sequencer looks dull.

“It really looks like a box,” says Dr. Nancy Spinner, who oversees this unremarkable-looking laboratory. But Spinner says what happens inside the box is magic.

“It is truly amazing. It has completely changed the kind of experiments we can do,” she says.

This DNA sequencer reads about 3 billion bits — your genetic blueprint — and creates a digital copy in 48 hours.

That’s what it did for Leta Moseley. The 15-year old is tiny, just 3 foot 8, 66 pounds. She can’t speak and she struggles with lung disease that can turn a simple cold into a life-threatening event. Since Leta was born, her parents Rick and Lainey and an army of doctors have searched for the cause of her condition. A few months ago they found it, thanks to that ‘box’ in the basement.

Dr. Ian Krantz was able to identify the mutation that caused Leta’s rare disease. “The new paradigm is going to be these genome-wide tests where you can screen all of the genes or most of the genes in a single test. The possibilities are as much as we can imagine them,” says Krantz.

The diagnosis is a genuine breakthrough — it’s not a cure for her daughter. Lainey Moseley says it’s a different kind of gift.

“I had always felt personally guilty that doubt, well did I do something wrong in my pregnancy. Did I cause this? And finding this diagnosis in some ways let me off the hook a little bit. It wasn’t my fault,” she says.

The sheer power of DNA sequencing has top hospitals falling over themselves investing tens of millions of dollars to get into this business. Dr. Robert Doms says his bosses at CHOP didn’t blink when he submitted his business plan to set up a DNA sequencing center.

“I think they cut one secretary, but otherwise, otherwise they gave me everything I ask for. Of course, now I have to be successful,” he says.

Success here in Philadelphia means that within a year, CHOP will have a genetics team of 50. The program will attract children with rare diseases and cancer from around the country for in-house testing, research work and genetic counseling.

But CHOP and others like Boston Children’s Hospital and Children’s Mercy in Kansas City and are betting those patients are just the beginning. There’s chatter in genomic circles that within a few years every fetus be sequenced.

“DNA sequencing testing is going to be a $20 billion industry within the next several years,” says Mary-Ellen Cortizas, who helps run the DNA sequencing business for Boston Children’s Hospital. Cortizas says hospitals are scrambling to develop the fastest, cheapest test out there.

“This is a race to who does this best, but what does best mean?” she asks. “Is it the cheapest sequencing, the fastest sequencing or the sequencing that is most useful for the patients?”

While the market for these tests is emerging, hospitals face challenges. Dr. Leonard Sender is the director of the Genomic Center at Children’s Hospital of Orange County. He says the tests aren’t much good if you don’t have the staff to help patients make sense of the results.

“Do we have enough genetic counselors? Do we have enough genetic-trained pediatricians?” asks Sender. “There is a tremendous problem in getting the education of this new field to the health care professional.”

And without that education, it’s easy to imagine doctor’s ordering tests that don’t lead to much, other than more costs. Dr. Eric Topol who oversees genetic work for Scripps Health in San Diego says that’ll never fly.

“Nothing is going to work and be accepted now, unless it not only improves patient outcomes, but also markedly reduce the cost of the care,” he says.

Topol says the potential to save money is there. Look at Leta’s case. Over the years, she underwent roughly $100,000 worth of genetic testing. The successful one was under $10,000. Leta’s mom, Lainey Moseley, says that’s not the only way to think about cost.

“There’s so much that falls apart in a normal family life because you are living a very medical life. So if other families didn’t have to go through that kind of medical odyssey, it would save a lot of people’s lives in a lot of ways,” she says.

Moseley says it’s unlikely the discovery of Leta’s condition will help her. But it’s clear the technology that solved her medical mystery has the power to provide answers that until now have been out of reach.

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