An automated genotype database for associating counterfeit drug evidence

M. Legler, W. Allan, M. W. Perlin, "An automated genotype database for associating counterfeit drug evidence", American Academy of Forensic Sciences 75th Annual Scientific Conference, Orlando, FL, 16-Feb-2023.

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Abstract

After attending this presentation, attendees will understand the utility of a probabilistic genotyping system and associated genotype database in finding associations among counterfeit drug packaging. This presentation will impact the forensic science community by demonstrating the application of an automated genotype database to a complex real-world dataset.

Counterfeit pharmaceuticals are a growing problem that can harm, and even kill, unsuspecting patients. Identifying counterfeits and catching counterfeiters is an important task that requires the ability to review thousands of evidence samples. Drug manufacturers have launched forensic service programs to combat the rising incidence of drug counterfeiting. However, relying on older data interpretation methods that cannot extract all identification information from DNA data does not yield useful results. Instead, an automated and informative DNA database capable of comparing hundreds or thousands of DNA items is required. Cybergenetics TrueAllele® database is an automated probabilistic genotyping system that can infer and genotypes.

A drug manufacturer provided Cybergenetics with a drug packaging dataset. The study reassessed evidence items collected from November 2018 through May 2020. On May 27, 2020, Cybergenetics received the dataset of 103 package evidence items. Using the TrueAllele system, Cybergenetics automatically separated the genotypes in each mixture and uploaded them to a TrueAllele database. The TrueAllele database then automatically compared the genotypes to produce DNA match statistics. On June 3, 2020, after completion of genotype production and comparison, the forensic company sent a spreadsheet of the log(LR) match statistics to the manufacturer.

The database comparisons produced 408 item-to-item DNA connections between the 103 package evidence items, for a total of 723 DNA matches. Each connection showed a match statistic of at least a million.

Further review of the match statistics revealed an informative cluster of package-to-package DNA matches for a specific cancer drug. On one specific package (Item A) a profile was seen with an expected match statistic of a nonillion (1030). Previous analysis had deemed the item as "Not Searchable Mixture". TrueAllele calculated an association between this item (Item A) and another item (Item B) of a nonillion (1030). Items A and B were both found to be associated with a third item C with match strengths of 10 octillion (1028) and 100 sextillion (1026), respectively.

All three packages were prepared by different lab scientists, and all three contained DNA from the same unknown person. The extent of this cluster proved to be 25 packages of the specific cancer drug, spanning 21 counterfeiting cases, with 265 package-to-package DNA matches. From this cluster, joint analysis developed a CODIS-searchable profile with an expected database match statistic of ten billion (1010).

Reviewing all DNA matches for informative clusters revealed four additional clusters. Cybergenetics ultimately produced 6 DNA profiles that were suitable for searching on current CODIS-style allele databases.

To summarize, Cybergenetics was able to fully interpret one and a half years' worth of data one a week. The TrueAllele database found 723 counterfeit package DNA matches and produced 6 CODIS-searchable profiles. This automated processing did not require much manual data review. All DNA genotype inference and comparison was conducted automatically on the TrueAllele database. Previously unsolved mixtures yielded informative solutions.

An automated and informative DNA database can catch drug counterfeiters, and save patient lives. Moreover, this technology can be extended to other big DNA data problems, such as organized retail theft and illicit drug production.

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American Academy of Forensic Sciences 75th Annual Scientific Conference - Program