Report

Teaser, summary, work performed and final results

Periodic Reporting for period 1 - VISAGE (Visible Attributes through Genomics: Broadened Forensic Use of DNA for Constructing Composite Sketches from Traces)

Teaser

\"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...

Summary

\"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.\"

Work performed

A fully functional project management infrastructure was established also assuring communication between the VISAGE members and with the EC. The public Consortium website was established, the first Steering Committee meetings and the kick-off Consortium meeting were held, the Scientific Advisory Board and the Ethics and Societal Impact Advisory Board were established and met. The development of the VISAGE Toolkit comprises two stages, termed basic and enhanced VISAGE tools. To this end, work focused on the basic VISAGE tool, for which previously established (epi)genetic markers for predicting i) eye, hair, and skin colour, ii) ancestry on the continental level, and iii) age from blood sources were identified and ascertained. It was concluded that this information represented the state-of-the-art confirmed and validated (epi)genetic knowledge on appearance, ancestry and age prediction available at the time. The carefully selected set of DNA predictors was combined into two genotyping assays: one comprising the genetic predictors for eye, hair, skin colour, and continental ancestry, and another comprising the epigenetic predictors for age from blood sources, together forming the basic VISAGE tool. The two assays were designed, optimized and tested using different targeted massively parallel sequencing (MPS) platforms. Internal validation testing was carried out, and the protocol was shared with all VISAGE laboratory members for external validation testing. Work started on identifying (epi)genetic markers for predicting more detailed appearance, age, and ancestry information to be considered for developing the enhanced VISAGE tool later. As a first step towards development of the integrative statistical interpretation framework, data on the spatial biogeographic distribution of the prevalence of the considered characteristics were collected. Work on exploring whether the use of priors and alternative classifiers enhances prediction accuracies started. Work on putative correlations between characteristics and how these impact on prediction accuracies started. Prediction modeling work on appearance, ancestry and age was performed. The relevant legal situation on FDP in EU Member States was comprehensively reviewed and compiled into a report to act as a first step in providing recommendations on the ethically, socially and legally responsible implementation of FDP in EU Member States.

Final results

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.

Website & more info

More info: http://www.visage_h2020.eu.