Counsyl, Redwood Shores, CA, USA.
Reprod Biomed Online. 2010 Oct;21(4):537-51. doi: 10.1016/j.rbmo.2010.05.012. Epub 2010 Aug 21.
Mendelian disorders are individually rare but collectively common, forming a 'long tail' of genetic disease. A single highly accurate assay for this long tail would allow the scaling up of the Jewish community's successful campaign of population screening for Tay-Sachs disease to the general population, thereby improving millions of lives, greatly benefiting minority health and saving billions of dollars. This need has been addressed by designing a universal carrier test: a non-invasive, saliva-based assay for more than 100 Mendelian diseases across all major population groups. The test has been exhaustively validated with a median of 147 positive and 525 negative samples per variant, demonstrating a multiplex assay whose performance compares favourably with the previous standard of care, namely blood-based single-gene carrier tests. Because the test represents a dramatic reduction in the cost and complexity of large-scale population screening, an end to many preventable genetic diseases is now in sight. Moreover, given that the assay is inexpensive and requires only a saliva sample, it is now increasingly feasible to make carrier testing a routine part of preconception care.
孟德尔遗传病在个体中较为罕见，但在群体中较为常见，形成了遗传疾病的“长尾”。如果有一种高度准确的单一检测方法能够用于这条“长尾”，就可以将犹太社区成功开展的针对泰萨二氏症的人群筛查计划推广到普通人群，从而改善数百万人的生活，极大地促进少数族裔的健康，并节省数十亿美元。为满足这一需求，我们设计了一种通用携带者检测：一种非侵入性、基于唾液的检测方法，可用于所有主要人群的 100 多种孟德尔疾病。该检测方法已通过中位数为 147 个阳性和 525 个阴性样本的变体进行了全面验证，证明了这种多重检测方法的性能可与之前的护理标准（即基于血液的单基因携带者检测）相媲美。由于该检测方法大大降低了大规模人群筛查的成本和复杂性，许多可预防的遗传疾病现在有望得到终结。此外，由于该检测方法价格低廉，且仅需唾液样本，因此现在越来越有可能将携带者检测常规纳入孕前保健。
