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- Title
A universal carrier test for the long tail of Mendelian disease.
- Authors
Srinivasan, Balaji S.; Evans, Eric A.; Flannick, Jason; Patterson, A. Scott; Chang, Christopher C.; Tuan Pham; Sharon Young; Kaushal, Amit; Lee, James; Jacobson, Jessica L.; Patrizio, Pasquale
- 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 singe-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.
- Subjects
GENETIC disorders; TAY-Sachs disease; SALIVA; GENES; PUBLIC health
- Publication
Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2010, Vol 21, Issue 4, p537
- ISSN
1472-6483
- Publication type
Article
- DOI
10.1016/j.rbmo.2010.05.012