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Reprod Biomed Online. 2010 Oct;21(4):537-51. doi: 10.1016/j.rbmo.2010.05.012. Epub 2010 Aug 21.

A universal carrier test for the long tail of Mendelian disease.

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1
Counsyl, Redwood Shores, CA, USA. balajis@stanford.edu

Abstract

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.

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PMID:
20729146
DOI:
10.1016/j.rbmo.2010.05.012
[Indexed for MEDLINE]

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