About the VISAGE Consortium.

The VISible Attributes Through GEnomics - VISAGE - Consortium aims to overcome the general limitation of current forensic DNA analysis by broadening forensic DNA evidence towards constructing composite sketches of unknown perpetrators from as many biological traces and sources and as fast as possible within current legal frameworks and ethical guidelines. The VISAGE Project will establish new scientific knowledge, develop prototype tools for DNA analysis and statistical interpretation, validate and implement these tool in forensic practice, investigate the ethical, societal and regulatory dimensions, widely disseminate the outcome and educate stake holder and target groups concerning the prediction of a person’s appearance, age, and bio-geographic ancestry from DNA traces, which will help finding unknown perpetrators of crime unidentifiable with standard DNA profiling via focussed police investigation. The VISAGE Consortium consists of 13 partners from academic, police and justice institutions of 8 European countries, and brings together forensic genetic researchers and forensic DNA practitioners, statistical geneticists and social scientists to achieve the project aims. The VISAGE Project & Consortium receives funding from Horizon 2020 The EU Framework Programme for Research and Innovation, Secure Societies Challenge.

Summary.

Overall, the VISAGE Consortium aims to overcome the general limitation of current forensic use of DNA by broadening it towards constructing composite sketches of unknown perpetrators from traces recovered at crime scenes.

Currently used standard forensic DNA profiling is only successful in cases where a DNA profile recovered from a human biological crime scene trace matches that of a potential suspect, who is either directly available via police investigation or by searching criminal DNA databases nationally or across Europe. However, there is an "information gap" in cases where a perpetrator has successfully escaped police investigation in the respective case or when the perpetrator's DNA profile has not yet been added to the criminal DNA database.

VISAGE aims to bridge this gap by providing reliable intelligence information on appearance, age, and ancestry of the unknown trace donor - all representing visible attributes approached through genomic means (hence the Consortium’s acronym VISAGE), as directly obtained from the trace DNA, which allows the construction of a composite sketch of the unknown trace donor.

By using this "biological witness" outcome information in the course of the case investigation, the search for the unknown perpetrator will be focussed and police will be guided towards the most likely person, or group of persons, meeting the composite sketch outcomes established from the trace DNA. Moreover, age, and to some extent bio-geographic ancestry information additionally allow searching in registers, which provides additional intelligence information.

We will achieve this overall aim by developing, validating and implementing in the relevant environment of routine forensic DNA service a set of prototype tools, the new VISAGE Toolkit, for producing as detailed as possible appearance, age, and bio-geographic ancestry prediction information of an unknown trace donor as fast as possible, allowing the construction of composite sketches from DNA of as many as possible crime scene traces.

Objectives.

The overall aim of VISAGE is to broaden the forensic use of DNA towards constructing composite sketches of unknown perpetrators from as many biological traces and sources and as fast as possible within current legal frameworks and ethical guidelines.

In particular, the VISAGE Consortium will:

1. Allocate previous and establish new DNA predictors for as detailed as possible information on appearance, age and ancestry.
2. Develop and forensically validate prototype tool(s) based on massively parallel sequencing (MPS) for simultaneously analysis of the identified DNA predictors of appearance, age and ancestry suitable for trace DNA.
3. Design an integrated interpretation framework including a prototype software for combined statistical consideration of the appearance, age, and ancestry DNA information delivered by the MPS tool(s), while responsibly considering a privacy-by-design approach and the relevant legal situation in EU Member States.
4. Identify and analyse the main challenges for, and make recommendations on, the legally, ethically and socially responsible implementation of constructing composite sketches from DNA for forensic use in EU Member States.
5. Implement the developed VISAGE Toolkit for constructing composite sketches from DNA traces in the routine forensic DNA service environment, thereby meeting the requested technical readiness level (TRL) 5.
6. Train the different target groups on the technical, interpretation, societal and regulatory issues of constructing composite sketches from DNA traces in forensic applications, and disseminate the major project outcomes to the relevant target groups and the wider public. Existing VISAGE contacts with global industry leaders in the field of forensic DNA products will aim at further developing the prototype outcomes into commercial products for future widespread application in routine forensic casework in the EU Member States and beyond.

Partners.

Scientific Advisory Board.

The Scientific Advisory Board of the VISAGE Project consists of the following distinguished experts in the field of forensic DNA analysis:

Dr. Thomas Parsons (Chair)
International Commission on Missing Persons (ICMP), Headquarter in Netherlands

Dr. John Butler
National Institute of Standards and Technology (NIST), U.S.A.

Dr. Susan Hitchin
INTERPOL, Headquarter in France

Dr. Antonio Alonso
National Institute of Toxicology and Forensic Sciences, Spain

Dr. Rainer Wenzel
Landeskriminalamt Rheinland-Pfalz, Germany

Ethics and Societal Impact Advisory Board.

The Ethics and Societal Impact Advisory Board of the VISAGE Project consists of the following distinguished experts on ethical, societal, and regulatory dimensions of forensic DNA analysis:

PD Dr. Reinhard Kreissl (Chair)
Vienna Centre for Societal Security (VICESSE), Austria

Prof. Dr. Amade M’Charek
Department of Anthropology, University of Amsterdam, Netherlands

Prof. Dr. Catherine O’Regan
Faculty of Law, University of Oxford, United Kingdom

Dr. Corinna Kruse
Department of Thematic Studies - Technology and Social Change, Linköping University, Sweden

Dr. Stefan Krauth
Defensoría Pública, Ecuador and Berlin, Germany

Work Packages

Work in the VISAGE Project is organized in 8 work packages.

Work Package 1: Project management and coordination
The overall objective of WP1 is to provide the appropriate management and coordination that will support the accomplishment of the Project goals within the given time-line.

Work Package 2: (Epi)Genetic markers for constructing composite sketches from DNA
The overall objective of WP2 is to develop genetic and epigenetic markers for appearance, age, and ancestry prediction allowing to construct composite sketches from DNA traces. More specifically it will i) allocate previously validated DNA predictors of basic appearance, age, and ancestry and ii) identify and validate new DNA predictors for as detailed as possible appearance, age, and ancestry.

Work Package 3: Prototype tool(s) based on massively parallel sequencing for constructing composite sketches from DNA
The overall objective of WP3 is to develop new prototype tools based on massively parallel sequencing technology for the combined analysis of appearance, age, and ancestry DNA predictors allowing to construct composite sketches from DNA. More specifically it will i) establish new MPS prototype tool(s) for the combined analysis of the appearance, age, and ancestry DNA predictors from WP2, and ii) perform forensic developmental validation of the established MPS prototype tool(s).

Work Package 4: Integrative statistical framework with prototype software for constructing composite sketches from DNA
The overall objective of WP4 is to develop a new integrative statistical framework with prototype software for combined appearance, age, and ancestry prediction allowing to construct composite sketches from DNA. More specifically it will: i) establish a new integrative statistical framework for considering in a combined way appearance, age, and ancestry prediction with DNA markers from WP2 and included in the MPS prototype tool(s) from WP3, and ii) establish new prototype software for constructing composite sketches from DNA.

Work Package 5: Societal, ethical, and regulatory dimensions of constructing composite sketches from DNA for forensic applications
The overall objective of WP5 is to identify the legal and regulatory, societal, and ethical dimensions of constructing composite sketches from DNA for forensic applications. More specifically it will: i) identify and analyse the main challenges for the ethically and societally responsible implementation of constructing composite sketches from DNA in forensic applications, ii) map the legal and regulatory landscape related to constructing composite sketches from DNA in forensic applications, and iii) recommend measures to be undertaken that enable the implementation constructing composite sketches from DNA in forensic applications in an ethically and societally responsible manner, including suggestions as to how privacy enhancing measures can be built into technologies, legal and regulatory infrastructures, and processes.

Work Package 6: Implementing the construction of composite sketches from DNA in the routine forensic DNA service environment
The overall objective of WP6 is to implement the developed MPS prototype tool(s) from WP3 and the prototype software from WP4 for construction of composite sketches from DNA in the routine forensic DNA service environment. More specifically it will: i) implement the MPS prototype tool(s) for constructing composite sketches from DNA from WP3 in the routine forensic DNA service environment, and ii) implement the prototype software for constructing composite sketches from DNA from WP4 in the routine forensic.

Work Package 7: Training of relevant target groups on constructing composite sketches from DNA in forensic applications and disseminating Project outcomes to public
The overall objective of WP7 is train the different relevant target groups on constructing composite sketches from DNA in forensic applications, and to disseminate the main project outcomes to the wider public. More specifically it will: i) develop training curricula tailor-made for the different target groups on the Project outcomes i.e., massively parallel sequencing in general as well as the developed and validated VISAGE prototype tool(s) in particular, the developed and validated prototype software, their implementation in the routine, and the ethical, societal, and regulatory dimension of constructing composite sketches from DNA in forensic practice, ii) teach these training curricula to the different relevant target groups outside the Consortium via workshops and seminars and to further widen the audience via train-the-trainer workshops, and iii) disseminate the Project’s main outcomes to decision makers and the wider public.

Work Package 8: Ethics requirements
The overall objective of WP8 is to ensure compliance with the 'ethics requirements' set out in this work package.

Objectives accomplished

The overall aim of VISAGE is/was to broaden the forensic use of DNA towards constructing composite sketches of unknown perpetrators from as many biological traces and sources and as fast as possible within current legal frameworks and ethical guidelines. Throughout its project time 2017-2021, the VISAGE Consortium has successfully addressed and fully accomplished its six objectives, as summarized below. The below mentioned references and reports can be found with their respective links to the open-access publications on the Scientific Publications and Reports parts of the VISAGE website.

Objective 1: Allocate previous and establish new DNA predictors for as detailed as possible information on appearance, age and ancestry.

Objective 1 was successfully addressed by work in workpackage 2 (WP2) led by Erasmus MC for appearance, USC for ancestry, and JU for age. In the early phase of the project, previously established DNA markers for appearance for 3 traits, ancestry for 5 continental regions (in part with newly established markers within VISAGE: De la Puente et al. 2021), and age from blood-derived DNA were ascertained, and delivered to MUI for developing the prototype VISAGE Basic labtools for appearance, ancestry and age in WP3. In parallel, new DNA markers were successfully discovered within the project via different approaches for i) additional six appearance traits as we described in several scientific publications (Xiong et al. 2019, Peng et al. 2019, Liu et al. 2019, Kukla-Bartoszeka et al. 2019, Chen et al. submitted) including one trait from earlier work of some VISAGE partners prior to VISAGE (Pospiech et al. 2018), ii) ancestry based on 7 continental regions (Phillips et al. in preparation) together with paternal ancestry from multiple regions, and iii) age from DNA of somatic tissues (Wozniak et al. 2021; Piniewska-Rog et al. 2021) as well as age from DNA of semen (Pisarek et al. 2021, Heidegger et al. 2021). These newly established DNA predictors for appearance, ancestry, and age, except those for two traits, and together with the previously established DNA predictors for the three appearance traits used in the prototype VISAGE Basic tool, were all delivered to MUI for developing the prototype VISAGE Enhanced labtools for appearance, ancestry and age in WP3. Staistical prediction modelling was done together with WP4 and the established prediction models were included in the statistical framework and prototype software developed in WP4. Objective 1 was fully accomplished within the project time.

Objective 2: Develop and forensically validate prototype tool(s) based on massively parallel sequencing (MPS) for simultaneously analysis of the identified DNA predictors of appearance, age and ancestry suitable for trace DNA.

Objective 2 was successfully addressed by work in WP3 led by MUI with all VISAGE laboratory partners involved. Two different types of prototype labtools based on different MPS technologies were succesfully developed and successfully forensically validated in WP3: i) the prototype VISAGE Basic labtools for appearance, ancestry and age using previously established DNA predictors ascertained in WP2, and ii) the prototype VISAGE Enhanced labtools for appearance, ancestry and age using the previously established together with the newly established DNA predictors delivered by WP2. The prototype VISAGE Basic labtools consist of two different MPS-based tools: i) the prototype VISAGE Basic labtool for appearance (3 traits) and ancestry (5 regions), and ii) the prototype VISAGE Basic labtool for age from blood-derived DNA, as we described in several scientific publications (Xavier et al. 2020, Heidegger et al. 2020, Palencia-Madrid et al. 2020, and Xavier et al. 2022). The prototype VISAGE Enhanced labtools comprise three different MPS-based tools: i) the prototype VISAGE Enhanced labtool for appearance (7 traits) and ancestry (7 regions and multi-region paternal ancestry), ii) the prototype VISAGE Enhanced labtool for age from DNA derived from somatic tissues, and iii) the prototype VISAGE Enhanced labtool for age from semen-derived DNA, as we described in several scientific publications (Woźniak et al. 2021, Heidegger et al. 2021, additional papers in preparation). Forensic validation of the prototype VISAGE Basic and Enhanced labtools, including demonstrating their suitability to trace-type DNA, was successfully achieved by collaborative exercises involving all VISAGE lab partners. Objective 2 was fully accomplished within the project time.

Objective 3: Design an integrated interpretation framework including a prototype software for combined statistical consideration of the appearance, age, and ancestry DNA information delivered by the MPS tool(s), while responsibly considering a privacy-by-design approach and the relevant legal situation in EU Member States.

Objective 3 was successfully addressed by work in WP4 led by UOC with several other VISAGE partners involved. An integrated statistical interpretation framework for combined consideration of the appearance, age, and ancestry information of the DNA markers delivered by WP2 and provided by the VISAGE Enhanced labtools developed in WP3, was successfully developed in WP4. Part of this work was done together with WP2 in building and validating the statistical models for DNA-based prediction of appearance traits, ancestry and age from different tissues that are included in this integrative statistical framework. Several scientific publications describe different aspects of this statistical framework (Katsara & Nothnagel 2019, Katsara et al. 2021a, Katsara et al. 2021b, Chen et al. 2021, Piniewska-Róg et al. 2021, Pisarek et al. 2021, Woźniak et al. 2021, de la Puente et al. 2021). The implementation of this integrated statistical framework in a prototype software, while responsibly considering a privacy-by design approach and the relevant legal situation in EU Member States with input from WP5, was successfully achieved with the design of the prototype VISAGE software for constructing basic and enhanced composite sketches from DNA at technology-readiness level (TRL) 5, which underwent implemention testing in WP6. Objective 3 was fully accomplished within the project time.

Objective 4: Identify and analyse the main challenges for, and make recommendations on, the legally, ethically and socially responsible implementation of constructing composite sketches from DNA for forensic use in EU Member States.

Objective 4 was successfully addressed by work in WP5 led by KCL with contributions by all VISAGE partners. As first part of the work, the legal and regulatory landscape related to constructing composite sketches from DNA in forensic applications, were mapped, which included an analysis of legal texts and policy documents at EU and national levels, as well as expert interviews to undertand how legal norms were interpreted and implemented in practice in the different EU Member States and some additional countries. Second, WP5 work identified and analysed the main challenges for the ethically and societally responsible implementation of constructing composite sketches from DNA in forensic applications, with a particular emphasis on privacy concerns. Third, WP5 developed general and country-specific recommendations on how to implement the construction of composite sketches from DNA for forensic use in an ethical and societally responsible way by building upon the earlier WP5 work and on the basis of additional WP5 activities. The team also considered in detail how privacy-enhancing and other features can be built into the prototype VISAGE Toolkit, which in close collaboration with WP4 was practically considered in the design of the prototype VISAGE software tool, and additionally developed best practice examples. The results were published in three reports that are openly accessible on the VISAGE website and in several scientific publications (Samule et al. 2018, Samuel & Prainsack 2018, Samuel & Prainsack 2019, Samuel & Prainsack 2021). Objective 4 was fully accomplished within the project time.

Objective 5: Implement the developed VISAGE Toolkit for constructing composite sketches from DNA traces in the routine forensic DNA service environment, thereby meeting the requested technical readiness level (TRL) 5.

Objective 5 was successfully addressed by work in WP6 led by BKA and involving all other VISAGE lab partners. The prototype VISAGE Toolkit, including the prototype VISAGE Basic and Enhanced labtools for appearance, ancestry and age prediction as well as the prototype VISAGE software tool for constructing basic and enhanced composite sketches from DNA, was successfully implemented in the routine forensic casework environments according to the intended TRL5. Although the laboratory methods were mostly new for those VISAGE partner that come from governmental forensic routine laboratories, the implementation results showed a high degree of concordance between all partner sites. The prototype VISAGE Basic and Enhanced Labtools for appearance and ancestry gave successful results with only 100 pg of DNA, respectively. The prototype VISAGE Basic and Enhanced Labtools for age, due to the different analytical procedure, required a DNA input of about 10 ng derived from semen, buccal cells or saliva, respectively. The prototype VISAGE software tool for constructing basic and enhanced composite sketches from DNA showed the expected results. Scientific publications are currently in preparation. Objective 5 was fully accomplished within the project time.

Objective 6: Train the different target groups on the technical, interpretation, societal and regulatory issues of constructing composite sketches from DNA traces in forensic applications, and disseminate the major project outcomes to the relevant target groups and the wider public. Existing VISAGE contacts with global industry leaders in the field of forensic DNA products will aim at further developing the prototype outcomes into commercial products for future widespread application in routine forensic casework in the EU Member States and beyond.

Objective 6 was successfully addressed by work in WP7 led by UKK involving several VISAGE partners. As first part of the work, a European-wide inquiry on training needs among different stake holders and end users was carried out via an online survey. The outcome of this survey was decribed in a scientific publication (Gross et al. 2021) and used to successfully develop training curricula addressing different target groups on technical, societal, regulatory challenges of constructing composite sketches from DNA in forensic practice. As second part of the work, two virtual (because of corona pandemic) “Train-the-Trainers” Workshops of three days each were carried to train forensic scientists from different countries, most of them were EU Member States, on technical, societal, regulatory challenges of constructing composite sketches from DNA in forensic practice. The workshop participants received theoretical knowledge on DNA prediction of appearance, ancestry and age in general, and with the DNA markers and prototype VOSAGE labtools and the prototype VISAGE software tool in partricular, as well as practical hands-on training on the use of the prototype VISAGE software tool. Furthermore, three expert symposia to stimulate a discussion on the legal admissibility of forensic DNA phenotyping in EU Member States where it is (partially) prohibited by law were helt virtually or as hybrid events in Germany, France, and Spain in the tree respective languages. The VISAGE Consortium succesfully disseminated the outcomes of the VISAGE project and raised the interest of the forensic community in four (with Portugal) EU Member States where forensic DNA phenotyping is not yet, or not fully yet, allowed (WP7 Dissemination Report). Discussions with companies are ongoing regarding the further development of the prototype VISAGE tools into commercial tools after the successful finish of the VISAGE project. Objective 6 was fully accomplished within the project time.

FAQ

In the following, we provide answers to Frequently Asked Questions (FAQ) about the VISAGE Project and the VISAGE Consortium that we came across.

FAQ Dutch FAQ French FAQ Polish FAQ Swedish FAQ Spanish FAQ German

1. Why is VISAGE dealing with forensic DNA phenotyping?
The VISAGE Consortium was founded, and the VISAGE Project developed, in response to a funding opportunity by the European Commission’s Research and Innovation Programme Horizon 2020 (in its Societal Challenges pillar, under the topic of “Forensic techniques on [….] broadened use of DNA”, topic identifier SEC-08-FCT-2016). The call stated that “the forensic community still requires, in the area of DNA extended exploitation, tools and techniques and advanced methods for data analysis and statistical interpretation to extend the exploitation of DNA”, particularly “new methods for establishing genetic composite sketch” . The VISAGE Consortium applied for funding under this call, and the European Commission approved the VISAGE Project following positive external review and internal evaluation. The project commenced in May 2017. Within the project we use the term “composite sketch” in the way that the call text used it, and we also consider it instructive in the sense that a sketch, by definition, is something unfinished, not something precise - which reflects what forensic DNA phenotyping (FDP) does.

2. Is forensic DNA phenotyping legal or illegal in European countries?
In many countries, FDP is not explicitly legislated. It is a new technology that, at the time when many countries in Europe and beyond issued legislation on forensic DNA testing, was not yet known. As a result, explicit legislation in most countries focuses on the storage of information of standard STR profiling and does not mention FDP. In the Netherlands FDP is permitted - under certain conditions - for the purpose of inferring biogeographical ancestry as well as (currently) hair and eye colour, for skin colour the legal approval procedure is currently underway. A recent legal change in Germany’s Criminal Procedures Act (Strafprozessordnung, StPO) allows FDP for the inference of eye, hair, and skin colour, as well as age. In Austria, change of the law in 2018 means that the prediction of phenotypic traits from DNA for the purpose of identifying an unknown perpetrator is now permissible in the context of severe crimes. In the United Kingdom, Sweden Spain, and Poland, FDP is considered permitted by law because it is not explicitly forbidden, and in some of these countries it is practiced. In France, FDP was considered forbidden, but a recent court case decision allowed FDP for ‘morphological characteristics’. Currently, FDP is practiced in France, and policy discussions are underway to resolve the unclear legal situation. Also in other European countries discussions about legalising FDP by adapting forensic DNA legislation are currently underway. In Switzerland a draft law to legalise FDP is currently under review. For the eight European countries represented in the VISAGE Consortium and for other EU countries, the VISAGE Project investigates the legal status quo and publishes the findings.

3. What does it mean that FDP targets coding DNA?
The STR markers applied in standard forensic DNA profiling are located in non-coding regions of DNA, as are some DNA markers used for FDP. The fact that some other DNA markers used for FDP are located in the protein-coding part (coding region) of the human genome has raised concerns. One important concern is that analysing markers located in the coding region may lead to a violation of privacy because this could disclose probabilistic information about personal characteristics of the sample donor. We believe that the decisive factor for an ethical and social assessment is not whether or not a specific DNA marker is in a protein-coding region per se, but instead what information about personal characteristics this coding DNA marker provides. This, in turn, depends on what the gene codes for. Furthermore, even non-coding regions, and thus DNA markers in such regions, can have an impact on personal characteristics, e.g. by regulating the function of genes located elsewhere in the human genome, or because of close physical proximity to a coding DNA marker (high linkage disequilibrium). Therefore, instead of relying on the distinction between coding and non-coding DNA markers, in our ethical assessment we ask what kind of information a specific coding or non-coding DNA marker provides, and then consider how ethically problematic - or not problematic - this information is, and how it should or should not be used. In the centre of our analysis stands the question of what protections should be in place so that the technology is not misused.

4. Are the DNA data from FDP stored in central forensic DNA databases?
No. To identify trace donors with standard DNA profiling, STR profiles from convicted offenders and other groups as specified in pertinent legal provisions in each countries (e.g. arrestees) together with STR profiles of unknown persons obtained from crime scene traces are stored in central national DNA profile databases. This enables authorities to match suspects with known persons whose STR profiles, names and addresses are stored in relevant databases. FDP works very differently as it does not aim to match DNA profiles. Neither are DNA data from FDP stored in central forensic DNA databases. Statistical models are used to convert FDP DNA data in probabilistic FDP “predictions”, which would then be communicated to investigative authorities by the forensic DNA experts. VISAGE will develop recommendations as to how such information should, or should not be, communicated.

5. What are the expected societal benefits and risks of FDP?
The benefits and risks of FDP have been the subject of a longstanding debate among scientists, practitioners, members of civil society organisations as well as law enforcement organisations. It is expected, and has already been demonstrated by actual casework applications, that FDP will help with investigations of severe crimes in cases where there are no known suspects and no other clues as to who the perpetrator could be. Such cases - which cannot be solved by standard STR profile matching may become solvable with the help of FDP. In such cases, FDP could aid investigations, for example, by helping to narrow down a pool of potential suspects and thus allowing standard STR profiling in a more effective and efficient manner.

FDP is not suitable to prove connections between specific individuals and specific crime cases. FDP is an investigative tool, not a tool for identification. The value of evidence in court proceedings should and could not be based on FDP but only on other types of evidence that can prove a specific person is connected to a crime (such as standard STR-profiling), which FDP cannot.

In terms of risks, all those related to the deployment of technology for criminal investigation (such as risks to privacy) also pertain to FDP, and will therefore need to be addressed. In addition to this, there is also the very valid concern that FDP could be used in a way that is biased against minorities. If in a case FDP provides information on a trait that is less frequently observed in a population (a rare trait or characteristic), the investigative value is larger than in a case where a more frequently observed (a more common) characteristic is predicted by FDP. To add further complexity to this issue, the question of what is frequently observed (i.e. common) largely depends on the population and/or region where the crime occurred (for example, blue eye colour is more frequent in northern European regions). It will therefore vary greatly between cases. Although we do agree with the argument that FDP could also exclude members of minority populations from suspicion, we are acutely aware of the risks of discrimination of minorities in societies and contexts that have a history of such bias.

On the basis of our analyses VISAGE will suggest ways to minimise these risks. VISAGE has a dedicated work package exploring the ethical, legal and societal aspects (ELSA) that focuses on these concerns. In this work package one of the key considerations is to ensure that any usage of FDP going forward is not in breach of any human rights protections, in particular also Art. 8 of the European Convention of Human Rights.

Last but not least, it is important to keep in mind that FDP only allows probabilistic inferences about the likely externally visible characteristics, biogeographic ancestry and age of unknown persons. It cannot establish any of these characteristics with certainty. There is a risk that the predictive value of FDP could be misunderstood, or deliberately exaggerated by those who have motives to do so. The members of VISAGE will do everything they can to present and communicate the findings carefully, as well as to train other stakeholders in the field to communicate and interpret FDP information appropriately, so as to help minimise the risk that the predictive value of FDP is misunderstood or deliberately exaggerated. This is one of the explicit objectives not only of the ELSA work package but also of the training and dissemination work package, and of the entire VISAGE project.

We gratefully appreciate the advice of colleagues and organisations who are helping us communicate the potential and limitations of FDP appropriately, as well as helping us devise measures that minimise the chances of misunderstanding FDP information by users of forensic technologies and the wider publics. We ask you to get in touch if you would like to speak with us about this.

6. Are police organisations involved in VISAGE?
Yes. The participant specification of the European Commission’s H2020 SEC-08-FCT-2016 call required that beneficiaries are “forensic laboratories or institutes” from EU Member States defined as “scientific laboratories that examine physical evidence in criminal cases. After examination, they provide reports and opinion testimony”. When forming the VISAGE Consortium, we reasoned that a mix of partners from academic institutions dedicated to forensic genetic research, particularly in the area of FDP, most of which regularly perform specialised forensic DNA services, as well as partners from governmental forensic institutions (either belonging to police or the judicial side) specialized on high-throughput routine forensic casework would allow us to reach the VISAGE Project objectives in the best possible way. Despite the fact that academic research on FDP has driven forensic genetics in the past 10 years, and most European leaders in this field are part of VISAGE, we believe that more research, development and validation is needed, and that police and justice organisations, as users of this technology, should be involved in this process. In VISAGE, we see an obligation to increase the quality of FDP by improving accuracy, reproducibility, and concordance, both in scientific terms as well as in how we think about its implementation into case work (in the narrow range of cases where we envisage this would be suitable). This is best achieved by having a variety of partners involved.

7. Is VISAGE in contact with industry?
Yes. First, the funding call SEC-08-FCT-2016 to which VISAGE responded is set by the European Commission on Technology Readiness Level (TRL) 5 , which according to the definition requires prototype tools being developed (in our case, the VISAGE Toolkit) and validated in the appropriate environment (in our case, the forensic DNA service environment). The European Commission expects that such prototype tools developed with European funding will be picked-up by industry to further develop into commercial products. Second, typical forensic DNA service laboratories work with commercial tools. Only some specialised academic forensic laboratories and specific police/juridical forensic service laboratories are able to apply non-commercial tools, such as in cases where commercial tools are not yet available. As such, the majority of forensic DNA service providers do not apply non-commercial tools in their forensic DNA services. This renders it important that industry further develop new (and further improve existing) forensic DNA technologies such as FDP so as to provide quality-controlled commercial tools for reliable use in routine forensic work. Given the TRL 5 requirement of the funding call specified by the EC, VISAGE does not develop commercial FDP tools itself; VISAGE’s focus is on building prototype tools, which we do in a platform independent manner. At the same time, we are in contact with several companies who already operate on the forensic DNA market and have ample experience to develop forensic DNA products.

8. Do VISAGE members own stocks of, or receive other personal benefits from companies?
No. We do not own stocks or other investments in commercial companies and do not receive financial remuneration or any types of other personal benefits from commercial companies. Inasfar as advisory board memberships are concerned, until recently, Manfred Kayser and Barbara Prainsack were both members of the Scientific Advisory Board of Identitas Corp alongside other expert scientists, though had never received financial remuneration or any types of other personal benefits. Their advisory role took place in the early days of this company several years ago. Neither Manfred Kayser nor Barbara Prainsack have provided advice for a number of years, and in particular not in the period when the VISAGE consortium was formed (nor thereafter). Prainsack and Kayser both officially withdrew from the Scientific Advisory Board of Identitas Corp in 2018.

9. Does VISAGE support specific legislative initiatives to allow a wider use of FDP?
In general, VISAGE does not comment on individual legislative initiatives but provides recommendations based on scientific research. VISAGE works towards supporting a well-considered approach that uses FDP in a limited range of cases involving severe crimes - where and when the application of FDP seems proportionate and reasonable - in countries where this does not conflict with the law, and with adequate safeguards in place. What safeguards these could be, will be established and published by VISAGE. Taking measures to minimise the risk that the predictive value of FDP is exaggerated by anti-immigration forces for politically strategic reasons will be part of these recommendations.

10. How does VISAGE ensure the ethical provenance of the human data and biomaterial used for its research?
In accordance with EU regulations, our genetic research that uses human data and/or human biological samples has been approved by research ethics committees and other relevant bodies. VISAGE uses only data and samples whose donors have given informed consent, and which are properly de-identified.

Scientific Publications

Review / Opinion articles

• Schneider PM, Prainsack B, Kayser M. The use of Forensic DNA Phenotyping in predicting appearance and biogeographic ancestry. Deutsches Arzteblatt International 2019;116:873-880.
• Vidaki A and Kayser M. Recent progress, methods and perspectives in forensic epigenetics. Forensic Science International: Genetics 2018;37:180-195.
• Parson W. Age estimation with DNA: from forensic DNA fingerprinting to forensic (epi)genomics: a mini-review. Gerontology. 2018;64(4):326-332.
• Vidaki A and Kayser M. From forensic epigenetics to forensic epigenomics: broadening DNA investigative intelligence. Genome Biol. 2017;18:238 .

• Gabrielle Samuel and Barbara Prainsack (2021). Shifting Ethical Boundaries in Forensic Use of DNA. Jahrbuch für Wissenschaft und Ethik 24/1: 155-172.
• Heidegger A, Pisarek A, de la Puente M, Niederstätter H, Pospiech E, Wozniak A, Schury N, Unterländer M, Sidstedt M, Junker K, Ventayol Garcia M, Lauren FX, Ulus A, Vannier J, Bastisch I, Hedman J, Sijen T, Branicki W, Xavier C, Parson W on behalf of the VISAGE Consortium. Development and inter-laboratory validation of the VISAGE enhanced tool for age estimation from semen using quantitative DNA methylation analysis. Forensic Science International: Genetics. 2021, 56: 102596
• de la Puente M, Ruiz-Ramírez J, Ambroa-Conde A, Xavier C, Pardo-Seco J, Álvarez-Dios J, Freire-Aradas A, Mosquera-Miguel A, Gross TE, Cheung EYY, Branicki W, Nothnagel M, Parson W, Schneider PM, Kayser M, Carracedo Á, Lareu MV, Phillips C, on behalf of the VISAGE Consortium. Development and evaluation of the ancestry informative marker panel of the VISAGE Basic Tool. Genes. 2021, 12(8):1284
• Pisarek A, Pośpiech E, Heidegger A, Xavier C, Papież A, Piniewska-Róg D, Kalamara V, Potabattula R, Bochenek M, Sikora-Polaczek M, Macur A, Woźniak A, Janeczko J, Phillips C, Haaf T, Polańska J, Parson W, Kayser M, Branicki W on behalf of the VISAGE Consortium. Epigenetic age prediction in semen - marker selection and model development. Aging. 2021, 13(5):19145-19164
• Piniewska-Róg D, Heidegger A, Pośpiech E, Xavier C, Pisarek A, Jarosz A, Wozniak A, Wojtas M, Phillips C, Kayser M, Parson W, Branicki W on behalf of the VISAGE Consortium. Impact of excessive alcohol abuse on age prediction using the VISAGE enhanced tool for epigenetic age estimation in blood. International Journal of Legal Medicine. 2021, 135:2209-2219
• Chen Y, Branicki W, Walsh S, Nothnagel M, Kayser M, Liu F on behalf of the VISAGE Consortium. The impact of correlation between pigmentation phenotypes and underlying genotypes on genetic prediction of pigmentation traits. Forensic Science International: Genetics. 2021, 50: 102395
• Gross TE, Fleckhaus J, Schneider PM. Progress in the implementation of massively parallel sequencing for forensic genetics: results of a European-wide survey among professional users. International Journal of Legal Medicine. 2021, 135:2209-2219
• Katsara MA, Branicki W, Walsh S, Kayser M, Nothnagel M; VISAGE Consortium. Evaluation of supervised machine-learning methods for predicting appearance traits from DNA. Forensic Science International: Genetics. 2021, 53: 102507
• Woźniak A, Heidegger A, Piniewska-Róg D, Pośpiech E, Xavier C, Pisarek A, Kartasińska E, Boroń M, Freire-Aradas A, Wojtas M, de la Puente M, Niederstätter H, Płoski R, Spólnicka M, Kayser M, Phillips C, Parson W, Branicki W; VISAGE Consortium. Development of the VISAGE enhanced tool and statistical models for epigenetic age estimation in blood, buccal cells and bones. Aging, 2021, 13(5): 6459-6484
• Katsara MA, Branicki W, Pośpiech E, Hysi P, Walsh S, Kayser M, Nothnagel M; VISAGE Consortium. Testing the impact of trait prevalence priors in Bayesian-based genetic prediction modeling of human appearance traits. Forensic Science International: Genetics. 2021, 50: 102412
• De la Puente M, Phillips C, Xavier C, Amigo J, Carracedo A, Parson W, Lareu MV. Building a custom large-scale panel of novel microhaplotypes for forensic identification using MiSeq and Ion S5 massively parallel sequencing systems. Forensic Science International: Genetics. 2020;45:102213.
• Heidegger A, Xavier C, Niederstätter H, de la Puente M, Pośpiech E, Pisarek A, Kayser M, Branicki W, Parson W on behalf of the VISAGE Consortium. Development and optimization of the VISAGE basic prototype tool for forensic age estimation. Forensic Science International: Genetics. 2020, 48: 102322.
• Palencia-Madrid L, Xavier C, de la Puente M, Hohoff C, Phillips C, Kayser M, Parson W on behalf of the VISAGE Consortium. Evaluation of the VISAGE basic tool for appearance and ancestry prediction using PowerSeq chemistry on the MiSeq FGx system. Genes. 2020, 11: 708.
• Xavier C, de la Puente M, Mosquera-Miguel A, Freire-Aradas A, Kalamara V, Vidaki A, Gross TE, Revoir A, Pośpiech E, Kartasinska E, Spolnicka M, Branicki W, Ames CE, Schneider PM, Hohoff C, Kayser M, Phillips C, Parson W on behalf of the VISAGE Consortium. Development and validation of the VISAGE AmpliSeq basic tool to predict appearance and ancestry from DNA. Forensic Science International: Genetics. 2020, 48: 102336.
• Samuel G and Prainsack B. Civil society stakeholder views on forensic DNA phenotyping: balancing risks and benefits. Forensic Science International: Genetics. 2019, 43: 102157.
• Katsara M-A, Nothnagel M. True colors: A literature review on spatial distribution of eye and hair pigmentation. Forensic Science International: Genetics. 2019;39:109-118
• Samuel G and Prainsack B. Forensic DNA phenotyping in Europe: views “on the ground” from those who have a professional stake in the technology. New Genetics and Society. 2019;38(2):119-141
• Peng F, Zhu G, Hysi PG, Eller RJ, Chen Y, Li Y, Hamer MA, Zeng C, Hopkins RL, Jacobus CL, Wallace PL, Uitterlinden AG, Ikram MA, Nijsten T, Duffy DL, Medland SE, Spector TD, Walsh S, Martin NG, Liu F, Kayser M. Genome-wide association studies identify multiple genetic loci influencing eyebrow color variation in Europeans. Journal of Investigative Dermatology. 2019;139(7):1601-1605.
• Liu F, Zhong K, Jing X, Uitterlinden AG, Hendriks AEJ, Drop SLS, Kayser M. Update on the predictability of tall stature from DNA markers in Europeans. Forensic Science International: Genetics. 2019;42:8-13.
• Kukla-Bartoszeka M, Pośpiech E, Woźniak A, Boroń M, Karłowska-Pik J, Teisseyre P, Zubańska M, Bronikowska A, Grzybowski T, Płoski R, Spólnicka M, Branicki W. DNA-based predictive models for the presence of freckles. Forensic Science International: Genetics. 2019;42:252-259.
• Xiong Z, Dankova G, Howe LJ, Lee MK, Hysi PG, de Jong MA, Zhu G, Adhikari K, Li D, Li Y, Pan B, Feingold E, Marazita ML, Shaffer JR, McAloney K, Xu SH, Jin L, Wang S, de Vrij FM, Lendemeijer B, Richmond S, Zhurov A, Lewis S, Sharp GC, Paternoster L, Thompson H, Gonzalez-Jose R, Bortolini MC, Canizales-Quinteros S, Gallo C, Poletti G, Bedoya G, Rothhammer F, Uitterlinden AG, Ikram MA, Wolvius E, Kushner SA, Nijsten TE, Palstra RT, Boehringer S, Medland SE, Tang K, Ruiz-Linares A, Martin NG, Spector TD, Stergiakouli E, Weinberg SM, Liu F, Kayser M. Novel genetic loci affecting facial shape variation in humans. eLIFE. 2019;8:e49898.

Reports

Report: Report on Three International Expert Symposia Disseminating the Results of the VISAGE Project (2021)

Report: Regulatory landscape of forensic DNA phenotyping in Europe (2018)

Deliverable_5.2: Societal, ethical, and regulatory dimensions of forensic DNA phenotyping.

Report: Recommendations to address the ethical and societal challenges of FDP.