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Coming soon: A genome test that costs less than a new pair of shoes

Coming soon: A genome test that costs less than a new pair of shoes

Air JordansScarcely a week ago, a leading genomics company, Illumina, announced it could sequence a human genome for the new, low price of $1,000. This week attendees at a personalized medicine conference heard a Silicon Valley startup say it would get the price down to $100.

Either price is a steep drop from the $2 million it cost in 2007 to sequence the genome of DNA discoverer James Watson, PhD. Illumina, a San Diego-based company (and one of Stanford’s partner  in a just-funded stem cell genomics center), claimed the $1,000 price in a Jan. 14 announcement on its latest sequencer model. CEO Jay Flatley said the achievement shows that science has “broken the sound barrier” in the race to make genome sequencing affordable for medical care.

Speaking Monday at the sixth annual Personalized Medicine World Conference in Mountain View, Calif., Flatley predicted that genome sequencing would one day become so widely used in bedside medical care that it would be regarded as a “molecular stethoscope.”

Skeptics at the conference questioned whether a $1,000 genome test could include all the interpretation and analysis necessary to make the raw data useful for patients. But within minutes of the question, another company stepped up to say it was already working on a test that would lower the cost even more to $100.

“At $100, you get to be really competitive,” said Stefan Roever, CEO of Genia Technologies, a startup based in Mountain View, during a panel presentation at the conference. Genia is using a different method, called nanopore-based sequencing. The start-up was part of a consortium with Harvard Medical School and Columbia University that won a $5.25 million grant in September from the National Human Genome Research Institute to develop the technology.

The PMWC conference was a mix of academic researchers, companies commercializing the genomics, and venture capitalists checking out the new crop of start-ups. Stanford was represented by Stephen Quake, PhD, professor of bioengineering; George Sledge, MD, professor of medicine; and a multitude of others. Also making presentations were LeRoy Hood, MD, PhD, head of the Institute for Systems Biology in Seattle, and Eric Green, MD, PhD, director of the National Human Genome Research Institute.

Amir Dan Rubin, president and CEO of Stanford Hospital & Clinics, gave a keynote talk at the start of the conference. Stanford Hospital & Clinics was one of the cosponsors of the conference, held Jan. 27-28 at the Computer History Museum in Mountain View.

Donna Alvarado is a Bay Area-based writer and editor who volunteers at the Stanford Health Library and finds inspiration in medical and health topics.

Previously: Stanford researchers work to translate genetic discoveries into widespread personalized medicineWhole-genome fetal sequencing recognized as one of the year’s “10 Breakthrough Technologies”New recommendations for genetic disclosure released and Ask Stanford Med: Genetics chair answers your questions on genomics and personalized medicine
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Cancer, Events, Stanford News, Women's Health

Frontiers in the fight against ovarian cancer

Frontiers in the fight against ovarian cancer

Women battling ovarian cancer, one of the toughest malignancies known, heard some encouraging news recently from a Stanford researcher on the forefront of new treatments.

Clinical trials are getting underway to test whether the body’s immune system can be “taught” to recognize and kill ovarian cancer cells, explained Oliver Dorigo, MD, PhD, at a lecture sponsored by the Stanford Women’s Cancer Center and the Stanford Health Library. One advantage of this approach is that it targets cancer cells and leaves healthy cells alone. If this strategy proves effective, one day the treatment could be given to patients within a week of their initial surgery to remove the cancer and boost their chances of survival.

Women with this illness face a rough road. Ovarian cancer is the 10th most common cancer in the United States, but the fifth most common death from cancer. While the chance of surviving at least five years is better than 90 percent when the disease is caught early, most of the time that doesn’t happen. That’s because the early symptoms of ovarian cancer are so vague – including bloating and pain in the abdomen – that few women realize it’s serious and see a doctor, said Dorigo, who is an associate professor and director of the Division of Gynecologic Oncology at Stanford Women’s Cancer Center.

Instead, most ovarian cancer is diagnosed at a late stage after it has spread, and the five-year survival rate is only about 30 percent. Although researchers have poured time and resources in a huge effort to produce better treatments, progress has been only incremental in the past decade, Dorigo explained.

Once ovarian cancer is diagnosed, the standard treatment is surgery to remove as much of the tumor disease as possible, followed by chemotherapy. Patients whose cancer can be completely removed in surgery have a better prognosis compared to patient in which this is not possible.

The past decade has brought advances in treatment. Surgeons now use small-incision, or laparoscopic, tools to remove cancer. Chemotherapy includes a combination of drugs that together mount a stronger defense against cancer recurring. In some patients, the drugs can be delivered directly into the abdomen, rather than by intravenous line, which might make a big difference in the overall prognosis, Dorigo said.

Still, the huge effort to find a chemotherapy that knocks out ovarian cancer’s return has yielded only incremental progress, according to Dorigo. So researchers are pursuing more treatment strategies.

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Cancer, Events, Stanford News, Surgery, Women's Health

Discussing trends in breast reconstruction choices

Discussing trends in breast reconstruction choices

Women are choosing silicone implants twice as often for breast reconstruction after mastectomy than using their own natural tissue for the reconstruction, a Stanford plastic surgeon says. Both methods have their advantages and drawbacks, Gordon Lee, MD, told an audience at a Stanford Health Library lecture last week.

Implant surgery is simpler, shorter and produces good results, but the implants “don’t last forever,” said Lee, an assistant professor and director of microsurgery in the Division of Plastic and Reconstruction Surgery. Tissue surgery takes longer and requires more recovery time, but it can provide natural-touch breasts that last long-term, with the “two-for-one” benefit of a tummy tuck for some women as well, he said.

Given the 1-in-8 chance that a woman in the U.S. will get breast cancer, reconstruction is an important topic to many

Given the 1-in-8 chance that a woman in the U.S. will get breast cancer, reconstruction is an important topic to many. “Patients should get a choice,” said Lee, who does both kinds of surgery.

Tissue surgery has been refined and improved for more than 30 years, with multiple options available to women now, Lee said. The most recent improvements enable surgeons to build new breasts using fat and skin tissue removed from the belly while leaving most or all of the belly muscles in place. Refined microsurgery techniques have also let surgeons connect arteries to the transplanted tissue with more precision, improving results.

Still, about two-thirds of U.S. women have decided to get implants in recent years, while one-third have had reconstruction using their own body tissues.

Many women choose implants because the procedure is simpler, they can recover in 1 to 2 weeks and get good-looking results sooner. Implants are made with a filler of either silicone or saline. About 95 percent of Lee’s patients who get implants choose silicone because they have a more natural feel and don’t flatten if the implant shell breaks.

Manufacturers estimate that implants last 10 years, on average, before rupturing, whether they are silicone or saline, Lee said. For any one woman, though, the rupture can occur much earlier or later – as soon one year or as long as 15 years after reconstruction, for example. Even if an implant shell ruptures, a woman may not notice it,  Lee said, because the silicone filler is likely to stay in place given that it is a cohesive material.

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