A three-year-old Silicon Valley start-up, Counsyl Inc., won the Bronze Innovation Award for its simple, low-cost genetic test that can alert
prospective parents who might be carrying genes that could cause
hereditary diseases in their children.
创立仅三年时间的硅谷新秀Counsyl Inc.以其低成本的基因测试技术获得科技创新奖(Innovation Award)铜奖,该技术能够检测出准父母可能携带的导致下一代患遗传疾病的基因。
Counsyl's technology promises a 'high quality-of-life
impact for families at risk for conceiving children with familial diseases,' says Larry Bock, an Innovation Awards judge and special
limitedpartner at
venture firm Lux Capital. 'This technology bundles
previously existing capabilities but with more
elegance,
access and affordability.'
科技创新奖评委、合资公司Lux Capital的特约合伙人博克(Larry Bock)说,Counsyl的技术对有生育携带家族疾病婴儿风险的家庭的生活质量会有很大的影响,该技术结合了之前已存的功能,但更高级,应用更广泛,也更经济。
Proponents of
universal prepregnancy genetic screening make a bold claim: If these tests were widely
available, they could significantly reduce, and possibly
eliminate,
hereditary diseases. Parents who discovered that they carried the genes that would put their children at risk for these diseases could
pursue other alternatives --
adoption or in vitro fertilization, for example. Widespread screening also could reduce
infantmortality; 20% to 30% of
infant deaths are caused by genetic illnesses.
全民孕前基因筛查的支持者大胆地声称:如果这些检测被广泛推广,将会大幅减少、甚至有可能消除遗传疾病。父母如果发现他们携带的基因可能导致他们的孩子有患这些疾病的风险,可以选择其他方法,例如领养或人工授精。大范围的基因检测还将减少婴儿死亡率,20%到30%的婴儿均死于基因疾病。
Until recently, however, most genetic tests covered only one disease at a time, required a blood
sample and cost between $500 and $1,000 each. So both their use and their
usefulness were
extremelylimited. Most prepregnancy genetic testing was performed for one of only a few diseases and only for certain ethnic groups, such as the screening for Tay-Sachs disease offered since the early 1980s to Jewish parents.
然而,直到最近,大多数基因检测每次只能检查一项疾病,需要血样,并且每项检测花费在500至1000美元之间。因此这些检测的使用和有用性都极其有限。大多数孕前基因检测都只是针对少数几种疾病中的一种疾病,并且只针对某个种族,例如从20世纪80年代开始对犹太人进行的Tay-Sachs病筛查。
Counsyl, based in Redwood City, Calif., has devised a single test that covers more than 100 genetic disorders, including Tay-Sachs, cystic fibrosis and
spinalmuscular atrophy. The saliva-based test costs about $350, and the cost typically is covered by most private insurance.
加州的Counsyl公司开发出一种检测技术,可同时检测100多种基因疾病,包括Tay-Sachs、囊性纤维化、脊髓性肌肉萎缩症等。该检测技术以唾液为基础,花费约350美元,大多数私人保险通常都能承担。
The company uses a customized microarray --
essentially a lab on a chip that can
simultaneously test for lots of genetic variations at a time -- and sophisticated statistical software to hunt for the presence of disease-causing mutations in genes. For the disorders it covers, the test is at least as
accurate as common single-disease tests, the company says.
该公司使用一种特制的微阵列──一种可同时检测多种基因变异的实验室芯片──和一种精密的统计软件来追踪基因中致病的变异。该公司说,对于覆盖范围内的疾病,该检测至少与一般的单一疾病测试一样精确。
Counsyl was founded by a group of Stanford University
alumni who were interested in using genetics to
promoteminority health. A test for multiple conditions, they saw, could have a big
impact.
Counsyl是由一群斯坦福大学校友创立的,他们对利用基因技术提高少数民族健康很感兴趣。他们认为将融多项检查于一身的检测会产生巨大的影响。
Counsyl's lab received regulatory
approval in the spring of 2009. The test was introduced in some clinics in May of last year and became nationally
available last October.
Counsyl的实验室在2009年春获得了监管审核。该项检测技术于去年5月被引进部分诊所,去年10月在全国范围内使用。