Interpretation of DNA typing results depends not only on population genetics, but also on laboratory error. Two samples might show the same DNA pattern for two reasons: two persons have the same genotype at the loci studied, or the laboratory has made an error in sample handling, procedure, or interpretation. Coincidental identity and laboratory error are different phenomena, so the two cannot and should not be combined in a single estimate. However, both should be considered.
Early in the application of the DNA approach, results from nonblind proficiency studies suggested a high rate of false positives due to laboratory error. One commercial laboratory reported one false match in 50 samples in each of the first two blind proficiency tests conducted by the California Association of Crime Laboratory Directors (CACLD).[25] The error was attributed to incorrect sample loading in the first test and to mixing of DNA samples (because of reagent contamination) in the second. Another commercial laboratory reported no false positives in the two CACLD tests, but is reported to have made errors related to sample mixup in actual casework in New York v. Neysmith [26] and in the matter of a dead infant found in the Rock Creek area of Erie, Ill.[27] A third commercial laboratory made one error in 50 samples in the first CACLD test, but none in later blind trial testing. Estimates of laboratory errors in more recent practice are not available because of the lack of standardized proficiency testing.
Proficiency testing has also revealed important instances of false negatives. In the second CACLD test, the second laboratory cited failed to detect that two samples were 1:1 mixtures from two donors. Similarly, the first laboratory cited failed to detect several 1:1 mixtures and, in one case, reported that a stain from one person was a mixture. Those results raised serious questions about the reliability of interpretation of mixed samples.
Especially for a technology with high discriminatory power, such as DNA typing, laboratory error rates must be continually estimated in blind proficiency testing and must be disclosed to juries. For example, suppose the chance of a match due to two persons' having the same pattern were I in 1,000,000, but the laboratory had made one error in 500 tests. The jury should be told both results; both facts are relevant to a jury's determination.
Laboratory errors happen, even in the best laboratories and even when the analyst is certain that every precaution against error was taken. It is important to recognize that laboratory errors on proficiency tests do not necessarily reflect permanent probabilities of false-positive or false-negative results. One purpose of regular proficiency testing under standard case conditions is to evaluate whether and how laboratories have taken corrective action to reduce error rates. Nevertheless, a high error rate should be a matter of concern to judges and juries.
Reported error rates should be based on proficiency tests that are truly representative of case materials (with respect to sample quality, accompanying description, etc.). Tests based on pure blood samples would probably underestimate an error rate, and tests based primarily on rare and extremely difficult samples (which might be useful for improving practice) would probably overestimate. Although the CACLD proficiency test was less than ideal (being open, rather than blind, and not requiring reporting of size measurements), the materials appear to have been representative of standard casework.