Recommendations of the Polish-speaking Working Group of the International Society for Forensic Genetics (ISFG-PL) regarding the disclosure of biological traces and the handling of evidence for identification tests. / Zalecenia Polskojezycznej Grupy Miedzynarodowego Towarzystwa Genetyki Sadowej (ISFG-PL) dotyczace ujawniania i identyfikacji sladów biologicznych przeznaczonych do badan genetycznych.

The purpose of this paper is to formulate recommendations for the disclosure of biological traces in the laboratory and the handling of forensic evidence submitted for identification tests, recommended by the Polish Speaking Working Group of the International Society for Forensic Genetics. The paper organizes the knowledge of the most relevant stages of preliminary analysis of biological traces based on both literature sources and those resulting from years of research practice. Recommendations formulated in the course of multi-stage expert consultations contained in this study should be used in the development of laboratory procedures applied during the execution.

La necesidad del intercambio transfronterizo de datos genéticos con fines de investigación criminal en América Latina: retos para su implementación / The need for cross-border exchange of genetic data for criminal investigation purposes in Latin America: implementation challenges

Las bases de datos genéticas con fines de investigación criminal constituyen una herramienta de indiscutible utilidad en la investigación de hechos delictivos.En América Latina existe un progresivo avance en la implementación de bases de datos para uso forense. La legislación existente es escasa, y heterogénea, tanto respecto de los delitos que se incluyen, como de la situación de los individuos cuyo ADN es pasible de registro. La mayoría no exige la acreditación de los laboratorios forenses bajo la norma ISO 17025. Las bases de datos de ADN existentes carecen, actualmente, de un régimen normalizado de comunicación.El establecimiento de un sistema de consulta e intercambio de datos genéticos en apoyo a los sistemas penales nacionales y a la persecución de delitos a nivel internacional, demanda acuerdos de cooperación, para lo cual, los implementados en la Unión Europea desde 1992, perfeccionados con la decisión de Prüm, constituyen un valioso referente. (AU)

DNA databases for criminal investigation purposes, constitute a tool of indisputable utility in the investigation of criminal acts.In the countries of Latin America there is a progressive advance in the implementation of databases for forensic use. The existing legislation is limited, and it is also heterogeneous both with respect to the crimes included and the procedural situation of the individuals whose DNA is subject to registration. Most of them do not require the accreditation of the forensic laboratories under the ISO 17025 standard. Existing DNA databases currently lack a standard communication regime.The establishment of a system of consultation and exchange of genetic data in support of national criminal systems and the prosecution of crimes at the international level, demands cooperation agreements, for which, those implemented in the European Union since 1992, perfected with the decision of Prüm, constitute a valuable reference. (AU)

Associations between forensic loci and expression levels of neighboring genes may compromise medical privacy.

A set of 20 short tandem repeats (STRs) is used by the US criminal justice system to identify suspects and to maintain a database of genetic profiles for individuals who have been previously convicted or arrested. Some of these STRs were identified in the 1990s, with a preference for markers in putative gene deserts to avoid forensic profiles revealing protected medical information. We revisit that assumption, investigating whether forensic genetic profiles reveal information about gene-expression variation or potential medical information. We find six significant correlations (false discovery rate = 0.23) between the forensic STRs and the expression levels of neighboring genes in lymphoblastoid cell lines. We explore possible mechanisms for these associations, showing evidence compatible with forensic STRs causing expression variation or being in linkage disequilibrium with a causal locus in three cases and weaker or potentially spurious associations in the other three cases. Together, these results suggest that forensic genetic loci may reveal expression levels and, perhaps, medical information.

Regulating forensic genetic genealogy.

Maryland 's new law provides a model for others.

Genealogía forense. Implicaciones sociales, éticas, legales y científicas / Forensic genealogy. Social, ethical, legal and scientific implications

A pesar del avance de las técnicas investigativas de Genética Forense, todavía existen gran cantidad de casos criminales no resueltos y en muchos casos inabordables por su antigüedad. Recientemente hemos asistido al nacimiento de una nueva disciplina forense, la genealogía forense o genealogía genética investigativa, que permite que muchos de estos casos puedan ser resueltos satisfactoriamente combinando la tecnología de análisis de ADN y las herramientas de búsquedas genealógicas.La potencialidad de esta nueva estrategia investigativa es evidente, de la misma manera que lo son sus riesgos. Hemos de mantener un equilibrio entre la privacidad personal y los intereses de las personas afectadas por un lado y la seguridad pública, el bien de la comunidad y la resolución y esclarecimiento de hechos delictivos por el otro, siendo necesario un debate social, legal y científico que clarifique todos estos aspectos y posibilite una adecuada regulación legal de estas prácticas. (AU)

Despite the advances in investigative techniques in Forensic Genetics, there are still a large number of unsolved criminal cases. We have recently seen the birth of a new forensic discipline called forensic genealogy or investigative genetic genealogy, which allows to us resolve satisfactorily many of these cold cases combining DNA analysis technology with genealogical search tools.The potential and risks of this new research strategy are manifest. We must maintain a balance between personal privacy and personal interests on the one hand and on the other, public security, the good of the community and the resolution and clarification of criminal acts, requiring a social, legal and scientific debate that clarifies all these aspects and enables adequate legal regulation of these practices. (AU)

Familial DNA analysis and criminal investigation: Usage, downsides and privacy concerns.

Since the discovery of Deoxyribonucleic acid (DNA) capability in forensic investigation, it has been an important part of the criminal justice system. In most criminal cases DNA profile originating from evidence sample collected from the crime scene is compared with the DNA profile from the reference sample. However, when a reference sample is not available for comparison, familial DNA analysis can provide important investigation leads in a criminal investigation process by identifying an individual. Moreover, this analysis is also proving effective in the identification of ethnicity and ancestry of an individual. A number of different methodologies and software are being used for familial DNA analysis. This review describes the importance of familial DNA analysis, methodologies used for familial DNA searching and identification, and its advantages in forensic. Moreover, ethical, legal and social issues associated with familial DNA analysis have also been discussed along with future directions for the proper implementation of this technology.

How can courts take into account the uncertainty in a likelihood ratio?

As legal practitioners and courts become more aware of scientific methods and evidence evaluation, they are demanding measures of the reliability of expert opinion. In particular, there are calls for error rates to accompany opinion evidence in comparative forensic sciences. While error rates or confidence intervals can be useful for those disciplines that claim to identify the source of a trace, the call for these statistical tools has extended to sciences that present opinions in the form of a likelihood ratio. In this article we argue against presenting both a likelihood ratio and numerical measures of its uncertainty. We explain how the LR already encapsulates uncertainty. Instead we consider how sensitivity analyses can be used to guide the presentation of LRs that are informative to the court and not unfair to defendants.

Using the Nondonor Distribution to Improve Communication and Inform Decision Making for Low LRs from Minor Contributors in Mixed DNA Profiles.

The reporting of a likelihood ratio (LR) calculated from probabilistic genotyping software has become more popular since 2015 and has allowed for the use of more complex mixtures at court. The meaning of "inconclusive" LRs and how to communicate the significance of low LRs at court is now important. We present a method here using the distribution of LRs obtained from nondonors. The nondonor distribution is useful for examining calibration and discrimination for profiles that have produced LRs less than about 104 . In this paper, a range of mixed DNA profiles of varying quantity were constructed and the LR distribution considering the minor contributor for a number of nondonors was compared to the expectation given a calibrated system. It is demonstrated that conditioning genotypes should be used where reasonable given the background information to decrease the rate of nondonor LRs above 1. In all 17 cases examined, the LR for the minor donor was higher than the nondonor LRs, and in 12 of the 17 cases, the 99.9 percentile of the nondonor distribution was lower when appropriate conditioning information was used. The output of the tool is a graph that can show the position of the LR for the person of interest set against the nondonor LR distribution. This may assist communication between scientists and the court.

DNA commission of the International society for forensic genetics: Assessing the value of forensic biological evidence - Guidelines highlighting the importance of propositions. Part II: Evaluation of biological traces considering activity level propositions.

The value of the evidence depends critically on propositions. In the second of two papers intended to provide advice to the community on difficult aspects of evaluation and the formulation of propositions, we focus primarily on activity level propositions. This helps the court address the question of "How did an individual's cell material get there?". In order to do this, we expand the framework outlined in the first companion paper. First, it is important not to conflate results and propositions. Statements given activity level propositions aim to help address issues of indirect vs direct transfer, and the time of the activity, but it is important to avoid use of the word 'transfer' in propositions. This is because propositions are assessed by the Court, but DNA transfer is a factor that scientists need to take into account for the interpretation of their results. Suitable activity level propositions are ideally set before knowledge of the results and address issues like: X stabbed Y vs. an unknown person stabbed Y but X met Y the day before. The scientist assigns the probability of the evidence, if each of the alternate propositions is true, to derive a likelihood ratio. To do this, the scientist asks: a) "what are the expectations if each of the propositions is true?" b) "What data are available to assist in the evaluation of the results given the propositions?" When presenting evidence, scientists work within the hierarchy of propositions framework. The value of evidence calculated for a DNA profile cannot be carried over to higher levels in the hierarchy - the calculations given sub-source, source and activity level propositions are all separate. A number of examples are provided to illustrate the principles espoused, and the criteria that such assessments should meet. Ideally in order to assign probabilities, the analyst should have/collect data that are relevant to the case in question. These data must be relevant to the case at hand and we encourage further research and collection of data to form knowledge bases. Bayesian Networks are extremely useful to help us think about a problem, because they force us to consider all relevant possibilities in a logical way. An example is provided.

Civil society stakeholder views on forensic DNA phenotyping: Balancing risks and benefits.

Forensic DNA phenotyping (FDP) is an umbrella term for practices seeking to infer likely phenotypic characteristics based on crime scene DNA. Specifically, it is intended to help criminal investigators find an unknown suspected perpetrator by providing information about what the suspected perpetrator may look like based on the analysis of DNA left at the crime scene. While many purport the usefulness of FDP in this regard, its probabilistic nature, as well as its ability to disclose information about an individual that may be considered private raises a range of ethical and social concerns. This paper reports findings from interviews with thirty civil society stakeholders across nine European countries. Our findings reflect the wide variation of views in Europe regarding if, when and/or how the technology should be used in the criminal justice system, and we illustrate this by presenting the different ways in which our participants strike a balance between the potential usefulness of the technology, and the various ethical and social considerations.

The visibilities and invisibilities of race entangled with forensic DNA phenotyping technology.

Forensic DNA phenotyping (FDP) technology represents a set of techniques that aim to predict physical features of criminal suspects, such as eye, skin and hair colour, and also ethnicity through the inference of biogeographic ancestry from their biological samples. In contrast to other forensic technologies, FDP is not used for identification purposes but valued for its potential intelligence value. Since features predicted by FDP relate to common traits shared by different population groups, critical voices highlight that this technology may (re)create dynamics of collectivisation of suspect populations. Looking at the criminal justice system, this paper aims to explore the diverse understandings of FDP by professionals working in forensic laboratories and by the members of police forces, alongside the automatic exchange of genetic profiles to fight cross-border crime. Their perceptions are explored according to the perceived potential investigative value and potential threats of FDP. Furthermore, we discuss how racial issues are implicitly and explicitly present in these narratives. Results show that FDP may be ushering in a new assemblage of racial issues along three entangled dimensions: the differentiating power of externally visible characteristics, the comparison between genetic and eyewitness testimonies, and the collectivisation of suspicion.

Correcting forensic DNA errors.

DNA mixture interpretation can produce opposing conclusions by qualified forensic analysts, even within the same laboratory. The long-delayed publication of the National Institutes of Standards and Technology (NIST) study of 109 North American crime laboratories in this journal demonstrates this most clearly. This latest study supports earlier work that shows common methods such as the Combined Probability of Inclusion (CPI) have wrongly included innocent people as contributors to DNA mixtures. The 2016 President's Council of Advisors on Science and Technology report concluded, "In summary, the interpretation of complex DNA mixtures with the CPI statistic has been an inadequately specified-and thus inappropriately subjective-method. As such, the method is clearly not foundationally valid" [7]. The adoption of probabilistic genotyping by many laboratories will certainly prevent some of these errors from occurring in the future, but the same laboratories that produced past errors can also now review old cases with their new software-without additional bench work. It is critical that laboratories adopt procedures and policies to do this.

Should police have access to genetic genealogy databases? Capturing the Golden State Killer and other criminals using a controversial new forensic technique.

On April 24, 2018, a suspect in California's notorious Golden State Killer cases was arrested after decades of eluding the police. Using a novel forensic approach, investigators identified the suspect by first identifying his relatives using a free, online genetic database populated by individuals researching their family trees. In the wake of the case, media outlets reported privacy concerns with police access to personal genetic data generated by or shared with genealogy services. Recent data from 1,587 survey respondents, however, provide preliminary reason to question whether such concerns have been overstated. Still, limitations on police access to genetic genealogy databases in particular may be desirable for reasons other than current public demand for them.

Genomic Privacy.

BACKGROUND: Genetic information is unique among all laboratory data because it not only informs the current health of the specific person tested but may also be predictive of the future health of the individual and, to varying degrees, all biological relatives. CONTENT: As DNA sequencing has become ubiquitous with decreasing cost, large repositories of genomic data have emerged from the domains of research, healthcare, law enforcement, international security, and recreational consumer interest (i.e., genealogy). Broadly shared genomic data are believed to be a key element for future discoveries in human disease. For example, the National Cancer Institute's Genomic Data Commons is designed to promote cancer research discoveries by providing free access to the genome data sets of 12000 cancer patients. However, in parallel with the promise of curing diseases, genomic data also have the potential for harm. Genomic data that are deidentified by standard healthcare practices (e.g., removal of name, date of birth) can be reidentified by methods that combine genomic software with publicly available demographic databases (e.g., phone book). Recent law enforcement cases (i.e., Bear Brook Murders, Golden State Killer) in the US have demonstrated the power of combining DNA profiles with genealogy databases. SUMMARY: We examine the current environment of genomic privacy and confidentiality in the US and describe current and future risks to genomic privacy. Reidentification and inference of genetic information of biological relatives will become more important as larger databases of clinical, criminal, and recreational genomic information are developed over the next decade.

Evaluation of forensic genetics findings given activity level propositions: A review.

The evaluation of results of forensic genetic analyses given activity level propositions is an emerging discipline in forensic genetics. Although it is a topic with a long history, it has never been considered to be such a critically important topic for the field, as today. With the increasing sensitivity of analysis techniques, and advances in data interpretation using probabilistic models ('probabilistic genotyping'), there is an increasing demand on forensic biologists to share specialised knowledge to help recipients of expert information address mode and timing of transfer and persistence of traces in court. Scientists thereby have a critical role in the assessment of their findings in the context of the case. This helps the judiciary with activity level inferences in a balanced, robust and transparent way, when based on (1) proper case assessment and interpretation respecting the hierarchy of propositions (supported by, for example, the use of Bayesian networks as graphical models), (2) use of appropriate data to inform probabilities, and (3) reporting guidelines by international bodies. This critical review of current literature shows that with certain prerequisites for training and quality assurance, there is a solid foundation for evidence interpretation when propositions of interest are at the 'activity level'.

Ethical, legal and social implications of forensic molecular phenotyping in South Africa.

Conventional forensic DNA analysis involves a matching principle, which compares DNA profiles from evidential samples to those from reference samples of known origin. In casework, however, the accessibility to a reference sample is not guaranteed which limits the use of DNA as an investigative tool. This has led to the development of phenotype prediction, which uses SNP analysis to estimate the physical appearance of the sample donor. Physical traits, such as eye, hair and skin colour, have been associated with certain alleles within specific genes involved in the melanogenesis pathways. These genetic markers are also associated with ancestry and their trait prediction ability has mainly been assessed in European and North American populations. This has prompted research investigating the discriminatory power of these markers in other populations, especially those exhibiting admixture. South Africa is well known for its diversity, and the viability of these particular SNPs still needs to be assessed within this population. South African law currently restricts the use of DNA for molecular phenotyping, and there are also numerous ethical and social considerations, all of which are discussed.

Massively parallel sequencing and the emergence of forensic genomics: Defining the policy and legal issues for law enforcement.

Use of DNA in forensic science will be significantly influenced by new technology in coming years. Massively parallel sequencing and forensic genomics will hasten the broadening of forensic DNA analysis beyond short tandem repeats for identity towards a wider array of genetic markers, in applications as diverse as predictive phenotyping, ancestry assignment, and full mitochondrial genome analysis. With these new applications come a range of legal and policy implications, as forensic science touches on areas as diverse as 'big data', privacy and protected health information. Although these applications have the potential to make a more immediate and decisive forensic intelligence contribution to criminal investigations, they raise policy issues that will require detailed consideration if this potential is to be realised. The purpose of this paper is to identify the scope of the issues that will confront forensic and user communities.