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Visible Attributes through Genomics: Broadened Forensic Use of DNA for Constructing Composite Sketches from Traces

Periodic Reporting for period 2 - VISAGE (Visible Attributes through Genomics: Broadened Forensic Use of DNA for Constructing Composite Sketches from Traces)

Reporting period: 2018-05-01 to 2020-04-30

"Standard forensic DNA profiling for human individual identification purposes is only successful in cases where a DNA profile recovered from a human biological crime scene trace matches that of a known suspect, who is directly available via police investigation or indirectly by searching criminal offender DNA database. However, there is an ""information gap"" in cases where a perpetrator is unknown i.e. has successfully escaped police investigation, or his/her DNA profile is not in the criminal DNA database. The VISAGE Project aims to bridge this information gap by providing reliable information allowing to construct a composite sketch of an unknown trace donor from trace DNA left behind (also referred to as Forensic DNA Phenotyping, FDP). By using this ""biological witness"" FDP outcome during police investigation, the search for the unknown perpetrator will be focused towards the most likely person, or group of persons, meeting the DNA-based composite sketch outcomes. To achieve this overall aim, the VISAGE Consortium had defined a series of objectives covering (epi)genetic research, prototype tool development, technical validation and implementation, consideration of ethical, societal, and legal dimensions, training and dissemination. In particular, VISAGE will allocate previous and establish new DNA predictors for as detailed as possible appearance, age and ancestry information. VISAGE will develop and validate prototype laboratory tool(s) based on targeted massively parallel sequencing (MPS) technologies for simultaneous analysis of the selected DNA predictors. VISAGE will design an integrated statistical interpretation framework, and will develop a prototype software, for combined consideration of the appearance, age, and ancestry information delivered by the laboratory tool(s). VISAGE will identify and analyze the main challenges for, and will make recommendations on, the ethically, socially and legally responsible implementation of FDP in EU Member States. At the final stage, the VISAGE Toolkit for constructing composite sketches from DNA traces will be implemented in the routine forensic DNA service environment of 8 EU Member States. These efforts will be accompanied by training the different target groups on the technical, interpretational, ethical, societal and regulatory issues of constructing composite sketches from DNA traces in forensic applications, and disseminating the major project outcomes to the relevant target groups and the wider public."
By the end of project year 3, with support by the project management infrastructure (WP1), all planned Consortia meetings (3), all planned S/EAB meetings (3), all planned (6) and additional SC meetings were held; all planned Milestones (18) were accomplished, almost all on time (MS16 two months later); and 24 of the planned 25 Deliverables were submitted, almost all on time (D4.2 two months later, while D7.3 is delayed due to COVID-19 restrictions in human gathering and traveling). Objective 1 was fully accomplished by having established the most informative set of genetic and epigenetic markers to make reliable predictions regarding appearance, age and biogeographic ancestry (WP2 completed). Objective 2 was mostly accomplished by having developed and validated five new analytical prototype tools to simultaneously analyze the (epi)genetic markers established in WP2 based on massively parallel sequencing technologies (WP3 completed). End-user validation and implementation of the two VISAGE Basic Tools has been completed in WP6, and for the three VISAGE enhanced tools is planned for year 4. Objective 3 was mostly accomplished by having completed the development of an integrative statistical framework to interpret the (epi)genetic data generated by the VISAGE enhanced analytical tools, and by having completed (with two month delay) the prototype software tool for constructing composite sketches from DNA (WP4 completed). End-user validation and implementation of the prototype software tool in WP6 is planned for year 4. Objective 4 was fully accomplished by having identified, explored and analyzed the main challenges for the legally, ethically and societally responsible implementation of constructing composite sketches from DNA, and having established recommendations to address the ethical and societal challenges for best practice implementations (WP5 completed). Work to accomplish Objective 5 (WP6 to continue) and 6 (WP7 to continue) in project year 3 and 4 have been / will be strongly affected by governmental restrictions in response to the COVID-19 pandemic, leading to work delays. Therefore, VISAGE applied for a 6 months project elongation, which was granted. By the end of year 3, the total scientific output of the VISAGE Consortium is 12 scientific papers published in peer-reviewed scientific journals, another 18 scientific papers are submitted for publication or in preparation.
The research and development performed by the VISAGE Consortium will have a significant impact on DNA-based criminal investigations and on the recognition of these FDP technologies by stakeholders, end users and the wider society. VISAGE will increase the level of detail at which appearance, age, and ancestry information is obtainable from trace DNA by using an enlarged number of DNA predictors. The VISAGE Toolkit will enable a mostly simultaneous analysis of the enlarged DNA predictors by use of targeted MPS technologies that suit the specific needs of forensic DNA analysis. In contrast, current FDP tools based on different technologies are strongly restricted in the number of DNA predictors, thus providing limited information by consuming more precious evidence DNA. VISAGE will provide an integrated framework with prototype software for statistical interpretation of the obtained DNA data for the various appearance, age, and ancestry characteristics, thereby taking advantage of the extra information provided by the biological relationship between these characteristics. In contrast, current FDP tools deal with each trait separately, thereby missing this crucial extra information. By implementing the VISAGE Toolkit in the environment of routine forensic DNA service in 8 EU Member States, VISAGE prepares for future casework applications where it is allowed. By introducing training opportunities of the relevant target groups, more EU Member States will be reached, and thus be supported to prepare for the use of the VISAGE Toolkit in their routine forensic practice. In addition to these technical achievements, VISAGE will develop recommendations on the ethically, socially and legally responsible implementation of FDP in EU Member States. Results from discussions with experts and stakeholders, as well as the outcomes of legal and ethical analyses will become available as reference material for a possible legislative process, which in the long term will increase the number of EU Member States, and beyond, where FDP will be legalized and practically applied. Casework applications of the VISAGE Toolkit will reduce investigative costs and will enhance its legitimacy in the investigative process to avoid loss of forensic intelligence, thus rendering the forensic process more efficient and effective. VISAGE contacts with global industry leaders will aim at further developing the VISAGE prototype tools into commercial products for future widespread application in routine forensic casework in EU Member States and beyond.