A universal carrier test for the long tail of Mendelian disease

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • DNA Probes
  • Ethnicity
  • Genetic Carrier Screening / methods*
  • Genetic Counseling
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / ethnology
  • Genetic Testing
  • Humans
  • Mutation
  • Saliva / chemistry*


  • DNA Probes