A universal carrier test for the long tail of Mendelian disease

Balaji S. Srinivasan, Eric A. Evans, Jason Flannick, A. Scott Patterson, Christopher C. Chang, Tuan Pham, Sharon Young, Amit Kaushal, James Lee, Jessica L. Jacobson, Pasquale Patrizio

Research output: Contribution to journalArticlepeer-review

85 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)537-551
Number of pages15
JournalReproductive BioMedicine Online
Issue number4
StatePublished - 2010


  • Mendelian disease
  • carrier testing
  • population screening
  • preconception
  • preventive medicine
  • reproductive health


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