Criteria for the Practical Translation of Genetic Testing to Clinical Practice
| Ease of mutation detection (for review, see Eng and Vijg 1997) |
| high sensitivity |
| no false negatives (100% specificity) |
| high throughput, i.e., turnaround time consistent with that of a routine clinical laboratory |
| user friendly |
| inexpensive (no more than $150/sample/whole gene) |
| Majority of mutations in single gene, preferably within a few exons |
| Ability to predict cancer risk from mutation data |
| Ability to offer effective surveillance or prophylactic procedure |