TY - JOUR
T1 - A universal carrier test for the long tail of Mendelian disease
AU - Srinivasan, Balaji S.
AU - Evans, Eric A.
AU - Flannick, Jason
AU - Patterson, A. Scott
AU - Chang, Christopher C.
AU - Pham, Tuan
AU - Young, Sharon
AU - Kaushal, Amit
AU - Lee, James
AU - Jacobson, Jessica L.
AU - Patrizio, Pasquale
PY - 2010
Y1 - 2010
N2 - 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.
AB - 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.
KW - Mendelian disease
KW - carrier testing
KW - population screening
KW - preconception
KW - preventive medicine
KW - reproductive health
UR - http://www.scopus.com/inward/record.url?scp=78049300625&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=78049300625&partnerID=8YFLogxK
U2 - 10.1016/j.rbmo.2010.05.012
DO - 10.1016/j.rbmo.2010.05.012
M3 - Article
C2 - 20729146
AN - SCOPUS:78049300625
SN - 1472-6483
VL - 21
SP - 537
EP - 551
JO - Reproductive BioMedicine Online
JF - Reproductive BioMedicine Online
IS - 4
ER -