Periodic Reporting for period 3 - VISAGE (Visible Attributes through Genomics: Broadened Forensic Use of DNA for Constructing Composite Sketches from Traces)
Période du rapport: 2020-05-01 au 2021-10-31
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 a 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 has been designed 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 group of persons, meeting the DNA-based composite sketch outcomes.
VISAGE has allocated previous and established new DNA predictors for appearance, age and ancestry information. VISAGE has developed a basic and an enhanced toolkit based on targeted massively parallel sequencing (MPS) technologies for simultaneous analysis of the selected DNA predictors. VISAGE has designed an integrated statistical interpretation framework for application in a prototype software, for combined consideration of the appearance, age, and ancestry information. Appearance predictors of the enhanced tool include eye, hair and skin colour, eyebrow colour, freckles, hair shape, male pattern baldness. Age prediction depends on a particular human tissue source, and has been designed for blood, saliva, semen, and bones. Autosomal ancestry prediction has been extended to include Y-chromosomal analysis. VISAGE has developed recommendations addressing the main challenges for the ethically, socially and legally responsible implementation of FDP in Europe. The VISAGE basic and enhanced toolkits have been validated and implemented in routine forensic DNA service laboratories. These efforts have been supported by training forensic scientists on technical, interpretational, ethical, and regulatory issues for using the VISAGE toolkits in FDP applications, and by disseminating the major project outcomes to stakeholders and end users. In conclusion, all objectives have been addressed as planned, and the results are included in the respective deliverables.
VISAGE has allocated previous and established new DNA predictors for appearance, age and ancestry information. VISAGE has developed a basic and an enhanced toolkit based on targeted massively parallel sequencing (MPS) technologies for simultaneous analysis of the selected DNA predictors. VISAGE has designed an integrated statistical interpretation framework for application in a prototype software, for combined consideration of the appearance, age, and ancestry information. Appearance predictors of the enhanced tool include eye, hair and skin colour, eyebrow colour, freckles, hair shape, male pattern baldness. Age prediction depends on a particular human tissue source, and has been designed for blood, saliva, semen, and bones. Autosomal ancestry prediction has been extended to include Y-chromosomal analysis. VISAGE has developed recommendations addressing the main challenges for the ethically, socially and legally responsible implementation of FDP in Europe. The VISAGE basic and enhanced toolkits have been validated and implemented in routine forensic DNA service laboratories. These efforts have been supported by training forensic scientists on technical, interpretational, ethical, and regulatory issues for using the VISAGE toolkits in FDP applications, and by disseminating the major project outcomes to stakeholders and end users. In conclusion, all objectives have been addressed as planned, and the results are included in the respective deliverables.
The work performed during the entire project can be divided into three periods, each generating specific results based on the objectives. Initially, the basic toolkit was generated to combine established markers to predict eye, hair and skin colour, continental ancestry, and age from blood. This toolkit helped to introduce the MPS-based workflow, as well as validation experiments to test the robustness of this toolkit. The second period started by identifying novel appearance predictors such as eyebrow colour, freckles, hair shape and male pattern baldness for inclusion in the VISAGE enhanced toolkit. Autosomal ancestry was refined by including subcontinental regions. Y-chromosomal analysis was added for paternal ancestry. Age prediction was extended to include buccal cells and semen, as well as bone tissue as DNA source. An integrated statistical interpretation framework for application in a prototype software, for combined consideration based on privacy-by-design criteria of appearance, age, and ancestry was developed in the first period, and implemented into a dedicated software in the second period. During the first two periods, research on the main challenges for the legally, ethically and societally responsible implementation of constructing composite sketches from DNA, together with recommendations for best practice was performed. During the third phase, the VISAGE enhanced toolkit was subjected to technical validation testing the overall performance, as well as to user validation in routine forensic casework laboratories. In parallel, training and dissemination efforts were carried out. Two virtual “Train-the-Trainers” workshops were organized among end users from European forensic casework laboratories. The main scientific outcomes including recommendations on ethical, legal and societal issues were disseminated in three expert symposia in Germany, France and Spain. The VISAGE toolkits are also subject to efforts allowing their commercial exploitation. The basic toolkit has been made available as a “community panel” that can be purchased from a commercial provider. The enhanced toolkit is subject to negotiation with several companies that have expressed their interest in this product.
The Basic and Enhanced Toolkits for Appearance, Ancestry and Age (VISAGE BT and ET) as well as the VISAGE Software represent the technical basis for the main short- and medium-term impact of the project. The impact needs to be assessed against the legal frameworks established in each European country. Given that based on all published evidence, individual-specific facial appearance cannot be predicted from DNA, the VISAGE BT/ET prototype tools allow narrowing down a potential group of suspects, and then identify the specific depositor of a biological trace by traditional DNA profiling. We envision that both the VISAGE BT and ET prototype tools have the potential for a broad use depending on a given legal framework to avoid unnecessary costs and time spent by forensic laboratories, thus rendering the forensic processes more efficient.
We expect that the long-term impact will be based primarily on the quality of data generated by the VISAGE ET, in combination with the underlying statistical prediction models employed in the integrative interpretation framework, with TRL5 conforming prototype software delivering statistical probabilities characterising the level of accuracy at which the composite sketch is constructed. Long-term impact will be influenced whether companies will pick-up on the foreground developed as prototype tool by VISAGE and develop and validate them further. Our statistical framework will guide the investigations and the obtained probabilities at which the composite sketch is constructed. It will be informative for the investigators to decide how much weight they will have in focusing the investigation. Thus, it will help to prevent miscarriage of justice in cases where no DNA identification or other factual evidence is available and human eyewitness statements would otherwise become the sole evidence. It will also reduce the number of “cold cases” where all conventional investigative leads have been exhausted. The impact of the VISAGE BT/ET and Software deliverables on stakeholders and society in general was greatly enhanced by the fact that the three dissemination symposia were held using a virtual format reaching out to more than 600 online participants in Europe.
The impact regarding the legal, ethical, and societal context has to be assessed separately, as it is in part influenced by the situation at a national level. Privacy-by-design has been achieved by preselecting the markers that can by analysed by the Software at the administrator’s level based on a given national legal framework. Following a critical public debate about protecting ethnic minorities in a number of non-European countries, the software was developed as a stand-alone package and distributed only to European forensic casework laboratories.
We expect that the long-term impact will be based primarily on the quality of data generated by the VISAGE ET, in combination with the underlying statistical prediction models employed in the integrative interpretation framework, with TRL5 conforming prototype software delivering statistical probabilities characterising the level of accuracy at which the composite sketch is constructed. Long-term impact will be influenced whether companies will pick-up on the foreground developed as prototype tool by VISAGE and develop and validate them further. Our statistical framework will guide the investigations and the obtained probabilities at which the composite sketch is constructed. It will be informative for the investigators to decide how much weight they will have in focusing the investigation. Thus, it will help to prevent miscarriage of justice in cases where no DNA identification or other factual evidence is available and human eyewitness statements would otherwise become the sole evidence. It will also reduce the number of “cold cases” where all conventional investigative leads have been exhausted. The impact of the VISAGE BT/ET and Software deliverables on stakeholders and society in general was greatly enhanced by the fact that the three dissemination symposia were held using a virtual format reaching out to more than 600 online participants in Europe.
The impact regarding the legal, ethical, and societal context has to be assessed separately, as it is in part influenced by the situation at a national level. Privacy-by-design has been achieved by preselecting the markers that can by analysed by the Software at the administrator’s level based on a given national legal framework. Following a critical public debate about protecting ethnic minorities in a number of non-European countries, the software was developed as a stand-alone package and distributed only to European forensic casework laboratories.