Searching national DNA databases with complex DNA profiles: An empirical study using probabilistic genotyping.

Abstract

In most National DNA databases (NDNADB), only single source DNA profiles, and sometimes two-person DNA mixtures, can be searched provided a minimum number of loci (or alleles) is available. DNA profiles that do not meet these criteria (about 14 % of the traces analyzed in Western Switzerland) can be compared locally with candidates upon request from police services, used for one-off search, or remain unused. With the advent of probabilistic genotyping (PG), such complex DNA profiles can be compared to those stored in NDNADB based on likelihood ratios (LRs). In this pilot study, traces of known contributors and casework DNA profiles were used to evaluate the performance of the DBLR™ "Search database" tool in conjunction with the Swiss NDNADB. First, 40 DNA mixtures (2-5 contributors) from 15 volunteers were prepared in the wet laboratory. They were deconvoluted with STRmix™ and compared to a database containing the DNA profiles of these 15 volunteers, along with 174,493 person DNA profiles from the Swiss NDNADB (ground-truth experiments). Using LR thresholds of 103 and 106, sensitivity and specificity were respectively 90.0 %/57.1 % and 99.9 %/100.0 %. For the lower LR threshold, this resulted in 52 adventitious associations out of more than 24 million pairwise comparisons. Second, 160 DNA mixture profiles from casework (2-4 contributors) that had previously been locally compared were searched with DBLR™ using the same conditions as for phase 1. With the 103 LR threshold, 380 associations were retrieved: 194 of these corresponded to expected associations, as they were previously made through the local comparisons with known persons, and 186 were new. With the 106 LR threshold, 199 associations were recovered of which 180 were expected and 19 new. This demonstrates that even with complex DNA profiles (up to 4 contributors) all expected associations were retrieved with a limited number of candidates per trace. Database searches of complex DNA mixtures allow for the generation of leads early in an investigation for DNA profiles that might otherwise remain underutilized. Next steps for the possible integration of DBLR™ or similar software within an operational context will require discussions on legal, financial, and technical aspects among stakeholders.