A universal carrier test for the long tail of Mendelian disease.
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.
Srinivasan
Balaji S
BS
Counsyl, Redwood Shores, CA, USA. balajis@stanford.edu
Evans
Eric A
EA
Flannick
Jason
J
Patterson
A Scott
AS
Chang
Christopher C
CC
Pham
Tuan
T
Young
Sharon
S
Kaushal
Amit
A
Lee
James
J
Jacobson
Jessica L
JL
Patrizio
Pasquale
P
D015342:DNA Probes; D005006:Ethnicity; D006580:Genetic Carrier Screening / Q000379:methods*; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000208:ethnology; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D012463:Saliva / Q000737:chemistry*
D015342:DNA Probes