Unknown perpetrators of crime cannot be identified with the current forensic use of DNA. The European Horizon 2020 Project VISAGE (Visual Attributes Through Genomics) aims to overcome this limitation by developing, validating, and implementing a set of molecular genetic tools for predicting appearance, age, and ancestry from unknown trace donors directly from their traces left at crime scenes.
During his presentation at ISHI 29, Walther Parson, Associate Professor at the Institute of Legal Medicine at the Medical University of Innsbruck, will describe the developmental stages of the basic tools and provide preliminary experimental results from the VISAGE project.
We sat down with Walther and asked him how phenotyping can assist in providing and identity to perpetrators of crime, which traits scientists are currently able to predict, and what he feels is the future of phenotyping.
Hi Walther, first I’d like to thank you for presenting at ISHI! The technology behind predictive appearances has come a long way in a seemingly short period of time, and we’re interested to hear what’s next.
Can you tell us where the idea for The European Horizon 2020 Project VISAGE came from and who is involved in the project?
The idea to develop a consortium that applies for the European Commission’s Research and Innovation Programme Horizon 2020 Security Call was for the first time discussed in more detail at a meeting near Innsbruck, Austria in 2016 between Manfred Kayser (Rotterdam), Christopher Phillips (Santiago de Compostela), Wojciech Branicki (Krakow) and Walther Parson (Innsbruck). The submission of the application including 13 European partners was directed by Manfred Kayser, who is now leading the Consortium. The application was successfully granted under the acronym VISAGE, which stands for Visual Attributes Through Genomics. The make-up of the consortium and the partners can be found at the Consortiums webpage.
Are there limitations that exist in current forensic use of DNA? How will VISAGE help to overcome these limitations?
Conventional Forensic DNA Fingerprinting is limited to comparing DNA profiles from crime scenes to suspects or convicted persons. Hence, unknown perpetrators cannot be found. The goal of VISAGE is to overcome this limitation by developing, validating, and implementing a set of molecular genetic tools for predicting appearance, age, and ancestry (= Forensic DNA Phenotyping, FDP) from unknown individuals directly from their traces left at crime scenes.
What traits is phenotyping currently able to predict? Are there new capabilities on the near horizon?
Currently, the most promising forensically relevant predictors are appearance, ancestry and age. These have been developed, investigated and interpreted in the past 10 years using different technologies. VISAGE aims at combining these and harmonizing technologies and interpretation. The main technological platforms are based on Massively Parallel Sequencing (MPS).
Are there any potential ethical or legal concerns with using phenotyping? Is VISAGE employing any strategies to overcome these concerns?
The answer to this varies between countries. Thus far in Europe, FDP is explicitly regulated only in the Netherlands. There it is permitted, when certain conditions are met, for the purpose of inferring biogeographical ancestry as well as hair and eye colour. In countries including the UK, Spain, and Poland, FDP is considered permitted by law because it is not explicitly forbidden. The legal situation is not entirely clear in other European countries, typically because forensic DNA legislation in these countries dates back to the time when only standard forensic DNA profiling using STR markers was performed (and thus regulated). In Germany and Austria, for example, current legislation is interpreted by experts as forbidding FDP. In France, FDP was considered forbidden, but a recent court case decision allowed FDP for ‘morphological characteristics’. At the moment, FDP is practiced in France, and policy discussions are underway to try and resolve the unclear legal situation.
Do you have recommendations for which laboratories should consider employing this technology, or is it suitable for all labs?
The main dissemination product of VISAGE is the provision of validated tools for FDP. Forensic laboratories are invited to test VISAGE tools using MPS by approaching the Consortium.
When will these tools be available to forensic laboratories?
VISAGE is developing and validating two sets of molecular tools, the basic and the enhanced tools. The former consists of known and mostly published markers and will become available in 2019, the latter includes new markers and is scheduled to become available in 2020.
What do you envision as the future for DNA phenotyping technology?
The near future will provide access to molecular and biostatistical tools to infer appearance, ancestry and age, such as the VISAGE tools using benchtop MPS instrumentation. Later, the field may be able to take advantage of current research on Third Generation Sequencing technologies.
What do you feel is the biggest challenge that forensic laboratories are facing today?
Forensic DNA Fingerprinting has become technically sound and robust using classical methods, such as multiplex PCR and Capillary Gel Electrophoresis. However, the interpretation of results is posing challenges still, particularly for complex genotype and haplotype data, e.g. mixtures. Education and training are pivotal here. Research and development is key in forensic genetics (and any other field). MPS of the current markers and FDP pose technical challenges to companies and academic groups. Even more so the interpretation and evaluation of the resulting data. Finally, one of the biggest challenges may be the transition of knowledge and interpretation guidelines of FDP results to forensic practitioners.
What tips would you give to someone who is just starting out in the forensics field, or what is the best advice that you’ve received?
Education and training are key followed by learning and applying good laboratory practice and appropriate interpretation. Go to meetings, learn, network and practice.
For those still deciding whether to attend, what is your favorite thing about ISHI, or what are you most looking forward to this year?
ISHI is one of the largest forensic genetics conferences in the world with strong emphasis on practical applications, which is an ideal platform to network for the young and the experienced in this field. You cannot attend this meeting without gaining experience and knowledge in forensic genetics. It is supported by a large number of commercial suppliers that provide access to the most recent developments. These help to improve your work.
What’s one thing that others may not know about you?
September 30th 1994 I returned from an awesome trip (Alaska to Ecuador), happy but bankrupt. I needed money and planned to work as taxi driver, as I used to while being a Zoology student at the University of Innsbruck. From a friend, I learned that there is a six month contract offered by the Innsbruck Institute of Legal Medicine. I applied for it October 3rd, although it paid less than driving a cab. I thought it would be a better investment for my professional future, and I also planned to use the time to look for a “proper job”. Well, what should I say? This has become my proper job, but the fascination for it is still vivid as in the first few months.
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