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Cambridge firm uses next-generation DNA sequencing to detect more mutations in carrier screening Print E-mail
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Post by Supaporn Wacharapluesadee   
เสาร์, 18 พฤษภาคม 2013

May 16, 2013 3:39 pm by Deanna Pogorelc

       When a company sets out to enter a market inhabited by heavyweights like LabCorp and Quest Diagnostics, it better have something good. Good Start Genetics has applied next-generation DNA sequencing to existing knowledge and testing methods to come up with what it thinks is that something special.

     The company has developed a series of lab tests that fall under the category of carrier screenings – tests check for certain gene mutations in potential parents or parents-to-be, to let them know whether they are recessive carriers of rare genetic diseases. Although only 1 percent of babies is born with one of these disease, the outlook is often grim for those that are. Cystic fibrosis, one of the most prevalent, causes the body to make a sticky mucus that clogs the lungs and other organs. According to the Cystic Fibrosis Foundation, more than 10 million Americans unknowingly carry the defective cystic fibrosis gene.




Carrier screening has been around for a while, and many women undergo screening before or during pregnancy for certain hereditary disorders associated with their ethnic background. The Associated Press in 2010 found that many inherited diseases appeared to be on the decline. But five-year-old Good Start thinks it can further that cause with more sensitive and thorough testing using next-generation sequencing.

Existing tests look for only a small number of disease-causing mutations that are common in specific ethnic populations, said Good Start President and CEO Don Hardison in an interview at the company’s Cambridge headquarters. Rather than searching for common, pre-selected mutations, Good Start combines next-generation sequencing with existing techniques to search an entire gene. As an example, where other test panels detect about 100 mutations for cystic fibrosis, GoodStart detects 550 mutations

But that’s a complicated thing. For example, there are more than 1,700 known mutations of the “cystic fibrosis gene,” but not all of them cause the disease. Hardison said Good Start’s test tells people whether a mutation is present, and calculates a residual risk of passing on a disease.

Hardison said Good Start offers a customizable panel of tests based on guidelines from American Congress of Obstetricians and Gynecologists, the American College of Medical Genetics and Genomics, and national Jewish advocacy societies. Those include tests for cystic fibrosis, spinal muscular atrophy, sickle cell disease, Niemann-Pick type A and Tay-Sachs disease, most of which are covered by private insurers.

Like most other carrier tests, future parents order them through their doctors. For now, Good Start is targeting fertility clinics in the U.S., where an estimated 7.4 million American women have sought services.

Hardison, who joined Good Start as president and CEO in April of 2011, said the company is on track to finish the year with $25 million in revenue and turn a profit within a few months. That’s a long way from where it was just five years ago, when a team of young men at Harvard University who had an inkling about the potential for next-generation sequencing wrote a business plan and won second place in a competition.

Since its formation in 2007, the company has raised some $60 million in three rounds from investors including OrbiMed, Safeguard Scientific, SV Life Sciences and Capital Royalty. It’s used that money to validate the technology, test it with fertility doctors and launch the tests, which it did last spring. Now Good Start is continuing to establish itself in the carrier screening market alongside other smaller players like GenPath Women’s Health and Counsyl.

Hardison says the company is looking at partnership approaches outside of the U.S. There are also plans to expand into maternal-fetal medicine and other areas of OBGYN, with the goal of eventually becoming a fully-integrated next-generation sequencing company.

Read more: http://medcitynews.com/2013/05/cambridge-firm-uses-next-generation-dna-sequencing-to-detect-more-mutations-in-carrier-screening/#ixzz2Tcr0JxuD
Last Updated ( เสาร์, 18 พฤษภาคม 2013 )
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