A universal carrier test for the long tail of Mendelian disease

摘要: 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 Jewish community's successful campaign population screening Tay-Sachs disease to general population, thereby improving millions lives, greatly benefiting minority health and saving billions dollars. This need has been addressed by designing universal carrier test: non-invasive, saliva-based more than 100 diseases across all major groups. The test exhaustively validated with median 147 positive 525 negative samples per variant, demonstrating multiplex whose performance compares favourably previous standard care, namely blood-based single-gene tests. Because represents dramatic reduction in cost complexity large-scale screening, an end many preventable is now sight. Moreover, given that inexpensive requires only saliva sample, it increasingly feasible make testing routine part preconception care.