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.
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.
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:
The VISAGE Consortium brings together the expertise of institutions that have led the field of forensic genetics over the last two decades in Europe and globally. It consist of 13 partners from 8 EU Member States, of which 7 are universities from 6 EU Member States and 6 are police or justice organizations from 6 EU Member States.
Erasmus University Medical Center Rotterdam, Netherlands
The Erasmus University Medical Centre Rotterdam (EMC) represents the Faculty of Medicine of the Erasmus University Rotterdam and the academic hospital of Rotterdam, the Netherlands. As the largest university medical centre in the country, EMC plays a leading role in biomedical research and education as well as specialised healthcare. The Department of Genetic Identification led by Professor Manfred Kayser uses state-of-the- art technologies to address topics within human molecular biology and genetics that are of fundamental scientific interest and, at the same time, provide potential applications to forensic sciences. The Department is internationally considered as one of the pioneers of forensic Y-chromosome analysis and forensic DNA phenotyping, particularly appearance prediction from DNA. Forensic knowledge and tool development also concerns other areas such as cell type determination of human stains, estimation of the deposition time of human stains, forensic epigenomics etc. Besides scientific research and academic teaching, the lab also performs forensic genetic service testing for police and justice organizations. EMC was an invited guest of the European DNA Profiling Group (EDNAP).
Jagiellonian University, Poland
The Jagiellonian University (Uniwersytet Jagiellonski) (JU) is one of the largest universities in Poland and one of the oldest in Europe. JU occupies a leading position in rankings of universities and higher education institutions in Poland. The Malopolska Centre of Biotechnology (MCB) is the JU’s scientific centre and developmental research facility. The Unit for Human Genome Variation Research, led by Professor Wojciech Branicki, is well-equipped and particularly active in research studies in the field of forensic genetics. In the forensic field, the Unit is well known for their leading work in forensic DNA phenotyping, particularly the estimation of age from DNA and has contributed strongly towards knowledge and tools of forensic appearance prediction from DNA.
University of Santiago de Compostela, Spain
The University of Santiago de Compostela (Universidade de Santiago de Compostela) (USC) is one of the oldest universities in Europe with important research activity mainly concentrated in biomedical sciences. It has a campus of excellence in Health Sciences and internationally recognised leading groups in Genetics, Physiology, Mathematics and Epidemiology. The Institute of Forensic Sciences at the University of Santiago (INCIFOR) carries out teaching duties, research and advice to the Spanish legal system in relevant cases (criminology, terrorism, etc.) and internationally. INCIFOR has developed genetic markers included in commercial kits widely used in forensic laboratories. Among various other areas within forensic genetics, the Institute, particularly Dr. Chris Phillips and Professor Ángel Carracedo, are at the forefront of developing knowledge and tools for forensic bio-geographic ancestry DNA testing and have contributed strongly towards knowledge and tools of forensic appearance and more recently age prediction from DNA. USC is an active member of EDNAP.
Medical University of Innsbruck, Austria
The Medical University of Innsbruck (Medizinische Universität Innsbruck) (MUI) separated from the main University of Innsbruck only 14 years ago. The Institute of Legal Medicine (GMI) at the Medical University of Innsbruck harbors the Austrian Central DNA Database Laboratory. GMI is repeatedly assigned to handle international casework requests, some of which received international media attention. Moreover, GMI harbors the mitochondrial (mt)DNA database EMPOP, which has become the primary reference for forensic mtDNA databasing and quality control of mtDNA data, and hosts the autosomal STR database STRidER. Besides forensic genetic research in various areas, GMI has a strong focus on forensic technology development; for instance, GMI pioneered the use of massively parallel sequencing (MPI) for forensic applications. MUI is an associated member of the European Network of Forensic Science Institutes (ENFSI) DNA Working Group and an active member of EDNAP.
University of Cologne, Germany
The University of Cologne (Universität zu Köln) (UoC), Germany is one of the oldest universities in Europe, and is well known for its diverse research areas. It is currently the third largest university in Germany. Officially recognised as Excellence University by the German Excellence Initiative, UoC’s six Faculties offer a wide range of academic disciplines and internationally renowned profile areas. The Cologne Center for Genomics (CCG)is an inter-faculty center for large-scale technologies in genomics as has recently co-founded the West German Genome Center (WGGC) as one of four central infrastructure centers for genome research, bioinformatics and high-performance computing funded by Deutsche Forshcungsgemeinschaft. CCG’s methodological role was substantially strengthened with the establishment of the Department of Statistical Genetics and Bioinformatics, headed by Professor Michael Nothnagel. Besides activities in medical genetics and epidemiology, the Department focusses on statistical method development and their application in forensic genetics and has productive collaborations with numerous forensic genetic groups.
King’s College London, United Kingdom
King's College London (KCL) is one of the world’s leading Universities for both education and research (among the top 30 universities). King’s combines disciplines that connect across different cultures, subjects, institutions and geographies. It attracts £880 million of funding annually and currently holds over 2000 research awards. The Department of Global Health & Social Medicine, where Professor Barbara Prainsack is affiliated, is world leading in developing social scientific approaches on the social and ethical dimensions of biomedicine, bioscience (including forensics) and technology.
University Hospital Cologne, Germany
The University Hospital Cologne (Klinikum der Universität zu Köln) (UKK) is one of the leading academic hospitals in Germany. As Faculty of Medicine of the University of Cologne it represents a nationally and internationally recognised center of excellence with several large excellence clusters for basic and clinical research in immunology, microbiology, oncology and age-related diseases. The Division of Forensic Molecular Genetics at the Institute of Legal Medicine, led by Professor Peter Schneider, is routinely carrying out forensic DNA typing of evidence material from casework for the criminal justice system, as well as for paternity and relationship testing. Forensic genetic research topics include bio-geographic ancestry testing, the application of massively parallel sequencing methods to study human genetic variation for forensic applications, epigenetic age prediction, identification of body fluids from forensic stains etc. UKK is an active member of ENFSI and EDNAP.
The Bundeskriminalamt (BKA) and its development as the criminal police of the Federation for over 50 years is viewed in the context of social and political developments as well as technical progress. The BKA’s Forensic Science Institute fulfills several roles within the German Police. It provides a wide variety of forensic services for BKA and other Police organisations. It develops or accompanies the development of new forensic methods including their implementation in the forensic workflow, also covering the quality requirements. The DNA Unit within the BKA’s Forensic Science Institute, led by Dr. Ingo Bastisch, is a world-wide, well-known laboratory actively networking within Germany, Europe and beyond. Besides its routine capacity (currently 10,000 samples per year) the DNA unit regularly carries out research. BKA was actively involved in issuing the minimum Validation Requirements of the ENFSI DNA Working Group, and is an active member of ENFSI and EDNAP.
Institut National de Police Scientifique, France
The Institut National de Police Scientifique (INPS) is part of the French Ministry of Interior. INPS is specialised in forensic technical and scientific investigations. Its main activities are on-request forensic science analyses for police investigations with associated reporting in court cases (136,635 cases in 2017), the development and/or improvement of methods in the area of ballistics, chemistry, toxicology and biology in collaboration with universities and research institutes and lastly, the training of forensic scientists and police officers. The DNA laboratory at INPS is a high-volume DNA service laboratory; in 2017 alone, >220,000 FTA cards and >228,000 DNA traces were analysed for casework. INPS’s DNA Laboratory, particularly Dr. François-Xavier Laurent, has ample experiences of validating and implementing various non-commercial tools for forensic bio-geographic ancestry, appearance DNA testing and the routine use of MPS technologies on casework-. INPS is an active member of ENFSI and EDNAP.
Netherlands Forensic Institute, Netherlands
The Netherlands Forensic Institute (Nederlands Forensisch Instituut) (NFI) is an agency of the Ministry of Security and Justice. The NFI is the oldest and most broadly-oriented forensic research institute in the Netherlands comprising over thirty different forensic disciplines Scientific and technological developments continuously offer new possibilities for finding, securing and analysing traces. To anticipate the future, the NFI is investing heavily in Research & Development (R&D). R&D in turn plays an important role in knowledge development, product innovation and process improvement. NFI delivers around 60,000 forensic services per year, of which three quarters are delivered by the Division of Biological Traces. It’s Research and Development Team led by Dr. Titia Sijen focuses on genetic and molecular biology developments, such as in the field of forensic tissue identification, to provide added value for casework practice. Next to methodological research, interpretational challenges and quality control issues are addressed as these aspects are intrinsic to forensic casework. NFI is an active member of ENFSI and EDNAP.
Swedish National Forensic Centre, Sweden
The Swedish National Forensic Centre (NFC) is part of the Swedish Police Authority (Polismyndigheten). NFC has an overall national responsibility for the entire forensic process “from crime scene to court”, regarding methods, quality assurance, research and development, as well as education. The principal task for NFC is to carry out investigations in criminal cases on behalf of the judicial authorities (police, prosecutors and courts). NFC handles more than 120,000 forensic investigations and analyses per year (except for forensic medicine). NFC’s Biology Section handles around 55,000 biological crime scene traces and 35,000 DNA reference samples each year. It is the world leader regarding turnaround times of DNA reference samples, with DNA profiles being loaded to the national DNA database within a few days. In 2015, NFC ran 116 research and development projects, activities and programs. NFC has worked on the development and application of probabilistic interpretation and evaluation in forensics for over 20 years and is one of the leading laboratories in Europe in this field. NFC is an active member of ENFSI and EDNAP.
Metropolitan Police Service, United Kingdom
The Metropolitan Police Service (MPS), (New Scotland Yard) was founded in 1829 and is the largest police force in the UK and one of the largest police services in the world. MPS is responsible for the operational police response in the capital city of London and national functions including counter terrorism and royalty and diplomatic protection. The MPS Directorate of Forensic Services provides forensic services to the investigation of crime in London and to the criminal justice system, and it also hosts the National Counter Terrorism Forensic Databases. The force also carries out national functions, in addition to sitting and chairing many national boards within the UK. MPS has developed a ten year DNA innovation road map, which includes the provision of MPS for serious crimes and national security. MPS is an active member of ENFSI.
Central Forensic Laboratory of the Police, Poland
The Central Forensic Laboratory of the Police (CFLP), Research Institute since 2011 carries out research and development activity and improves forensic technologies for a more efficient crime prevention and detection process. CFLP forms a team of Poland’s leading forensic experts who elaborate the most complex forensic casework in such areas as the examination of handwriting, questioned documents, audio analysis, fingerprint, DNA examinations and ballistics, amongst others. The institute maintains several forensic databases such as the Automated Fingerprint Identification System (AFIS), the DNA profiles database, and the Automated Ballistic Information System (ABIS). CFLP is the main forensic service provider in Poland (around 3,200 cases per year) and supervises 17 regional police forensic laboratories nationwide, including scene of crime units. Moreover, CFLP develops forensic examination methodologies and promotes quality management issues nationwide. The laboratory is engaged in a number of research projects funded from the National Centre for Research and Development (NCBR, Poland) and the European Union. CFLP is an active member of ENFSI and cooperates with other forensic institutes and universities.
The VISAGE Consortium includes the most active leading scientists in the field of forensic genetic research and development in Europe and globally, several of whom are in the forefront worldwide in the subfield of forensic DNA phenotyping i.e., the prediction of appearance, bio-geographic ancestry and age from DNA for investigative purposes.
Prof. Dr. Manfred Kayser (coordinator, work package leader)
Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Netherlands
Manfred Kayser is a (full) Professor of Forensic Molecular Biology at Erasmus University Rotterdam and the (founding) head of the Department of Genetic Identification at Erasmus University Medical Center Rotterdam. In the forensic field he is well known for introducing and further developing forensic Y-chromosome DNA analysis and for his pioneering work on forensic DNA phenotyping. He also works on other aspects of forensic molecular biology such as molecular trace type determination, molecular trace deposition time estimation as well as on forensic epigenomics and forensic microbiomics. He has published more than 220 articles in peer-reviewed international scientific journals, and has an h-index of 63. He received the Scientific Price 1998 of the German Society of Legal Medicine and the Biennial Scientific Price 2017 of the International Society for Forensic Genetics.
Prof. Dr. Wojciech Branicki (sub work package leader)
Malopolska Centre of Biotechnology, Jagiellonian University Krakow, Poland
Wojciech Branicki is a full professor at Malopolska Centre of Biotechnology of Jagiellonian University. He is a forensic expert with specialization in forensic genetics. For many years he has combined work of a DNA expert with researching in the field of forensic genetics in the Institute of Forensic Research in Krakow. Now he is involved in research and education in the genetics and forensic genetics at Jagiellonian University (Malopolska Centre of Biotechnology) and has a position of DNA expert in the Central Forensic Laboratory in Warsaw. WB is experienced in leading research projects and has a good record of publications in forensic genetics, especially in the field of DNA-based prediction of appearance traits and age estimation. He is a member of scientific organizations, International Society for Forensic Genetics, Polish Society of Legal Medicine and Criminology and Polish Society of Human Genetics. He is a chairman of the Polish Speaking Working Group of the International Society for Forensic Genetics. Currently his research group continues to work on discovering new markers and developing new tools in the field of predictive DNA analysis in forensics.
Prof. Dr. Angel Carracedo
Institute of Forensic Science, University of Santiago de Compostela, Spain
Angel Carracedo is full professor at the Faculty of Medicine at University of Santiago de Compostela, Director of the Galician Foundation of Genomic Medicine (Galician Service of Health), and Director of the Spanish National Genotyping Center. He served as Director of the Institute of Legal Medicine (USC, 1992 - 2013), past President of the International Society for Forensic Genetics (ISFG), and past President of the International Academy of Legal Medicine. He is Editor-in-Chief of Forensic Science International: Genetics and member of the editorial board of a number of the international journals on genetics, cancer and forensic science. He is a member of regulatory bodies such as EMA, CNUFADN- Spanish Forensic DNA Regulator. He participated in various EU-funded Projects on forensic science and genomics, some of them as coordinator. He published 12 books and over 600 papers in SCI journals, and has an h-index of 69. He received the Jaime I Award, the Adelaide Medal, the Galien Medal, and the National Award on Genetics among others, and is Doctor Honoris Causa at several universities.
Dr. Chris Phillips (sub work package leader)
Institute of Forensic Science, University of Santiago de Compostela, Spain
Chris Phillips is a full-time researcher at the Forensic Genetics Unit, Institute of Forensic Science, University of Santiago de Compostela, Spain. He holds a PhD in Forensic Genetics. His research interests are wide ranging, but centre on developing new forensic markers and the application of forensic genetics to investigative practice; particularly the analysis of a person’s bio-geographic ancestry from their genetic variation. He is actively involved in the development and maintenance of genetic data analysis websites such as Snipper and SPSmart. Research has extended from SNPs to Indels to novel STRs and, more recently, the potential of massively parallel sequencing technologies to characterise microhaplotypes and sequence variation in established STRs. He has published 129 PubMed-listed papers, and has an h-index of 35.
Prof. Dr. Walther Parson (work package leader)
Institute of Legal Medicine, Medical University of Innsbruck, Austria
Walther Parson holds an associate professorship at the Institute of Legal Medicine, Medical University of Innsbruck, Austria and an adjunct professorship at PennState University (USA). He is representing Austria on international boards including the European Network of Forensic Science Institutes (ENFSI) DNA Working Group or the European DNA Profiling Group (EDNAP). His research group is interested in various fields of genetics and genomics, including forensics, medical and population genetics and entertains collaboration with other fields of research such as anthropology, archaeology, mathematics and history. Walther Parson and his group curate EMPOP (https://empop.online), the world’s largest forensic mitochondrial DNA database for forensic quality control and recently developed STRidER (https://strider.online) to quality control and disseminate STR allele frequencies and sequenced alleles. He is an elected active member of the Academy of Sciences Leopoldina (Germany) and currently serves as President of the International Society for Forensic Genetics (ISFG). He has authored more than 340 peer-reviewed original articles.
Prof. Dr. Michael Nothnagel (work package leader)
Department of Statistical Genetics and Bioinformatics, Cologne Center for Genomics, University of Cologne, Germany
Michael Nothnagel is Professor of Statistical Genetics and Bioinformatics at the University of Cologne. His work covers methodological and applied aspects of human genetic data analysis, including genetic epidemiology, population genetics and forensics. His contributions to forensic genetics comprise theoretical works on the resolution limits for the discriminative power of forensic DNA markers, on the accurate estimation of inter-marker recombination rates and on optimal procedures for informative marker selection as well as applied works that spatially describe Y-chromosomal variation in China, South America and on a global scale. He has authored more than 100 peer-reviewed articles, and has an h-index of 31.
Prof. Dr. Barbara Prainsack (work package leader)
Department of Social Science, Health & Medicine, King’s College London, United Kingdom
Barbara Prainsack is a (full) Professor at the Department of Political Science at the University of Vienna, and at the Department of Social Science, Health & Medicine at King’s College London. Her work explores the social, regulatory and ethical dimensions of biomedicine and bioscience. Her books on the governance of forensic genetic technologies include: Tracing Technologies: Prisoners’ Views in the Era of CSI (with Helena Machado, Routledge, 2014; the book was translated and published in Portuguese in 2014), and Genetic Suspects: Global Governance of Forensic DNA Profiling and Databasing (ed. with Richard Hindmarsh, Cambridge University Press, 2010). Barbara Prainsack is a member of the Austrian National Bioethics Committee advising the federal government in Vienna, a member of the European Group on Ethics and New Technologies advising the European Commission, and a former member of the Ethics Group of the UK National DNA Database (2015-2017). She is also a member of the British Royal Society of Arts, and an elected foreign member of the Danish Royal Academy of Sciences and Letters.
Prof. Dr. Peter M. Schneider (work package leader)
Institute of Legal Medicine, University Hospital Cologne, Germany
Peter M. Schneider is a (full) professor at the Institute of Legal Medicine, University of Cologne, Germany, where he is head of the Division of Forensic Molecular Genetics. He is responsible for the education of students in medicine, biology, and law, and, at the same time, for carrying out routine DNA typing of criminal evidence material, identification cases, as well as relationship testing. From 2012-2016, he served as coordinator of the multinational EU-funded 7th framework project "European Forensic Genetics Network of Excellence – EUROFORGEN-NoE" establishing a European research infrastructure in forensic genetics. He is an active member of expert commissions dealing with issues related to genetic typing and forensic DNA analysis, such as the National Gene Diagnostics Commission of the German Federal Ministry of Health, and the European DNA Profiling (EDNAP) Group. He is chairperson of the German Forensic Stain Commission organizing the annual proficiency testing GEDNAP (www.gednap.org), President of the German Society for Parentage Testing, as well as former President and current Secretary of the International Society for Forensic Genetics (ISFG).
Dr. Ingo Bastisch (work package leader)
Kriminaltechnisches Institut, Bundeskriminalamt, Germany
Ingo Bastisch has been working with the BKA’s DNA unit since 1999 after he obtained a PhD at Hannover Medical School. Besides his main duty of running the DNA routine lab at the BKA, he has been involved in various projects dealing with standardization, validation, interpretation and integration of newly developed methods. He is an active member of various national and international working groups (DNA working group of the European Network of Forensic Sciences, European DNA Profiling Group, Interpol DNA Monitoring Expert Group, ISO TC 272 Forensic Sciences, DNA working Group of the German police).
Dr. François-Xavier Laurent
Institut National de Police Scientifique, France
François-Xavier Laurent is a forensic researcher and R&D manager in Biology at the INPS Laboratory Lyon since December 2013. He holds a PhD in Molecular Genetics from the Université Paris-Sud. He was the recipient of the Young Researchers Award from the Fondation des Treilles in 2011 and Médaille de securité intérieure in 2018. His current research interests involve method development in the forensic field using his background in genetics and molecular biology. He has a direct experience in validating and implementing new technologies in routine forensic DNA service, including massively parallel sequencing and forensic DNA phenotyping.
Dr. Titia Sijen
Division of Biological Traces, Netherlands Forensic Institute, Netherlands
Titia Sijen leads the Research & Development team of the division Biological Traces at the Netherlands Forensic Institute since 2007. She holds a PhD and has 15 years of academic research in RNA silencing prior to joining the forensic field. Main forensic research themes in her team are analysis and interpretation of complex DNA profiles, RNA profiling for forensic tissue identification, mitochondrial DNA analysis and application of massively parallel sequencing for forensic purposes. Besides technological improvements, much effort is spent on developing interpretation strategies, software solutions for forensic genetic data challenges and the implementation process for forensic casework.
Dr. Johannes Hedman
Swedish National Forensic Centre, Sweden
Johannes Hedman is Specialist at the Biology Section of the Swedish National Forensic Centre. His holds a PhD in Engineering that involved research on PCR-inhibitors in forensic DNA samples. He is responsible for the development, validation and implementation of DNA analysis methods, including massively parallel sequencing. He has led two national projects involving four Swedish governmental expert laboratories, with the aim of developing and implementing high-throughput DNA/RNA analysis processes for modern PCR-based analysis. His current research, performed in collaboration with Lund University, is focused on understanding analytical bottlenecks, for example finding PCR inhibition mechanisms of substances relevant in forensic casework and the implementation of massively parallel sequencing to forensic casework.
Metropolitan Police Service London, United Kingdom
Shazia Khan is the DNA lead in the Metropolitan Police Service (MPS) London. She has an undergraduate Honours degree in Chemistry, and has a master's conversion qualification in Law. She devises and oversees the policy and procedures governing the use and deployment of DNA within the policing environment for MPS. She has worked in the field of DNA for about 20 years, and has lead on numerous technical, policy and legislative changes to the use of DNA profiling in the policing environment. She is currently the technical lead for implementing a number of international DNA exchange projects within the UK, as such works very closely advising Home Office and the Criminal Justice system on these matters. She worked for the Forensic Science Service, and LGC Forensics prior to joining the MPS eleven years ago. She partakes/ chairs a number of national and international boards in the area of DNA innovation, policy and governance, which include ENSFI, INTERPOL, FSR DNA Working Group, and various UK Home Office Project Boards and Working Groups.
Dr. Magdalena Spólnicka
Central Forensic Laboratory of the Police, Poland
Magdalena Spólnicka is the Director of the Biology Department of the Central Forensic Laboratory of the Police (CFLP). She holds a PhD in Medical Sciences. As a result of her 20-year work practice at CFLP, she is experienced in all key aspects of CFLP Biology Department duties, including the performance of highly complicated forensic examinations, completing analytical and statistical documentation as a part of her work routine as well as running implementation and adaptation activities. Additionally, she is experienced in supervising candidate experts in the field of forensic genetics. Her scientific research is focused on the examination of utility and validation of epigenetic age prediction markers. She is also engaged in the research dedicated to the prediction of phenotypic and biogeographic traits. She leads the Team for Predictive DNA Analysis in Forensic Genetics organized in the Polish Speaking Working Group of the International Society for Forensic Genetics. Her contribution to scientific development includes co-authorship of numerous publications and presentations at various national and international conferences.
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
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 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.
In the following, we provide answers to Frequently Asked Questions (FAQ) about the VISAGE Project and the VISAGE Consortium that we came across.
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. Within VISAGE partner countries, only one country - the Netherlands - has regulated FDP explicitly. In the Netherlands FDP is permitted - under certain conditions - for the purpose of inferring biogeographical ancestry as well as hair and eye colour. In Austria and Germany, current legislation is interpreted by experts as forbidding FDP, because pertinent law only permits the analysis of DNA information from non-coding regions of the genome. 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 try and resolve the unclear legal situation. Also in other European countries, such as Germany and Switzerland, discussions about legalising FDP by adapting forensic DNA legislation are currently underway. For the eight European countries represented in the VISAGE Consortium and for other EU countries, we have researched the legal status quo and will publish our findings in due course.
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 (e.g. the recent legal change in Bavaria, Germany)?
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.
Review / Opinion articles