title: A universal carrier test for the long tail of Mendelian disease.
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 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.
authors: Counsyl, Redwood Shores, CA, USA. balajis@stanford.edu
authors: Balaji S
authors: BS
authors: Srinivasan
authors: Eric A
authors: EA
authors: Evans
authors: Jason
authors: J
authors: Flannick
authors: A Scott
authors: AS
authors: Patterson
authors: Christopher C
authors: CC
authors: Chang
authors: Tuan
authors: T
authors: Pham
authors: Sharon
authors: S
authors: Young
authors: Amit
authors: A
authors: Kaushal
authors: James
authors: J
authors: Lee
authors: Jessica L
authors: JL
authors: Jacobson
authors: Pasquale
authors: P
authors: Patrizio
mesh_terms: 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*
chemical_list: D015342:DNA Probes