Enthusiasm and Skepticism

Chapter 4 examines two of the cells in the basic framework: “Enthusiasm” about the benefits of using the science of genetic inheritance, and “Skepticism” about the risks of using the science of genetic inheritance. For each viewpoint, this chapter explores arenas within medical and scientific research (including gene therapy, the search for Covid-19 vaccines, and gene editing), criminal justice (including forensic DNA databases, rapid DNA testing, and exoneration), and biogeographical ancestry (including racial and ethnic ancestry testing, race-based medicine, and deep ancestry). Chapter 4 provides evidence to support both excitement about the benefits of genomic science and concern about its risks and costs.

Identification of ancestry proportions in admixed groups across the Americas using clinical pharmacogenomic SNP panels

We evaluated the performance of three PGx panels to estimate biogeographical ancestry: the DMET panel, and the VIP and Preemptive PGx panels described in the literature. Our analysis indicate that the three panels capture quite well the individual variation in admixture proportions observed in recently admixed populations throughout the Americas, with the Preemptive PGx and DMET panels performing better than the VIP panel. We show that these panels provide reliable information about biogeographic ancestry and can be used to guide the implementation of PGx clinical decision-support (CDS) tools. We also report that using these panels it is possible to control for the effects of population stratification in association studies in recently admixed populations, as exemplified with a warfarin dosing GWA study in a sample from Brazil.

From Identification to Intelligence: An Assessment of the Suitability of Forensic DNA Phenotyping Service Providers for Use in Australian Law Enforcement Casework

Forensic DNA Phenotyping (FDP) is an established but evolving field of DNA testing. It provides intelligence regarding the appearance (externally visible characteristics), biogeographical ancestry and age of an unknown donor and, although not necessarily a requirement for its casework application, has been previously used as a method of last resort in New South Wales (NSW) Police Force investigations. FDP can further assist law enforcement agencies by re-prioritising an existing pool of suspects or generating a new pool of suspects. In recent years, this capability has become ubiquitous with a wide range of service providers offering their expertise to law enforcement and the public. With the increase in the number of providers offering FDP and its potential to direct and target law enforcement resources, a thorough assessment of the applicability of these services was undertaken. Six service providers of FDP were assessed for suitability for NSW Police Force casework based on prediction accuracy, clarity of reporting, limitations of testing, cost and turnaround times. From these assessment criteria, a service provider for the prediction of biogeographical ancestry, hair and eye colour was deemed suitable for use in NSW Police Force casework. Importantly, the study highlighted the need for standardisation of terminology and reporting in this evolving field, and the requirement for interpretation by biologists with specialist expertise to translate the scientific data to intelligence for police investigators.

Evaluation of the Ion AmpliSeq™ PhenoTrivium Panel: MPS-Based Assay for Ancestry and Phenotype Predictions Challenged by Casework Samples

As the field of forensic DNA analysis has started to transition from genetics to genomics, new methods to aid in crime scene investigations have arisen. The development of informative single nucleotide polymorphism (SNP) markers has led the forensic community to question if DNA can be a reliable “eye-witness” and whether the data it provides can shed light on unknown perpetrators. We have developed an assay called the Ion AmpliSeq™ PhenoTrivium Panel, which combines three groups of markers: 41 phenotype- and 163 ancestry-informative autosomal SNPs together with 120 lineage-specific Y-SNPs. Here, we report the results of testing the assay’s sensitivity and the predictions obtained for known reference samples. Moreover, we present the outcome of a blind study performed on real casework samples in order to understand the value and reliability of the information that would be provided to police investigators. Furthermore, we evaluated the accuracy of admixture prediction in Converge™ Software. The results show the panel to be a robust and sensitive assay which can be used to analyze casework samples. We conclude that the combination of the obtained predictions of phenotype, biogeographical ancestry, and male lineage can serve as a potential lead in challenging police investigations such as cold cases or cases with no suspect.

Evaluation of the VISAGE Basic Tool for Appearance and Ancestry Prediction Using PowerSeq Chemistry on the MiSeq FGx System

The study of DNA to predict externally visible characteristics (EVCs) and the biogeographical ancestry (BGA) from unknown samples is gaining relevance in forensic genetics. Technical developments in Massively Parallel Sequencing (MPS) enable the simultaneous analysis of hundreds of DNA markers, which improves successful Forensic DNA Phenotyping (FDP). The EU-funded VISAGE (VISible Attributes through GEnomics) Consortium has developed various targeted MPS-based lab tools to apply FDP in routine forensic analyses. Here, we present an evaluation of the VISAGE Basic tool for appearance and ancestry prediction based on PowerSeq chemistry (Promega) on a MiSeq FGx System (Illumina). The panel consists of 153 single nucleotide polymorphisms (SNPs) that provide information about EVCs (41 SNPs for eye, hair and skin color from HIrisPlex-S) and continental BGA (115 SNPs; three overlap with the EVCs SNP set). The assay was evaluated for sensitivity, repeatability and genotyping concordance, as well as its performance with casework-type samples. This targeted MPS assay provided complete genotypes at all 153 SNPs down to 125 pg of input DNA and 99.67% correct genotypes at 50 pg. It was robust in terms of repeatability and concordance and provided useful results with casework-type samples. The results suggest that this MPS assay is a useful tool for basic appearance and ancestry prediction in forensic genetics for users interested in applying PowerSeq chemistry and MiSeq for this purpose.

The (De)materialization of Criminal Bodies in Forensic DNA Phenotyping

Forensic DNA phenotyping is a genetic technology that might be used in criminal investigations. Based on DNA samples of the human body found at crime scenes, it allows to infer externally visible characteristics (such as eye, hair and skin colour) and continental-based biogeographical ancestry. By indicating the probable visible appearance of a criminal suspect, forensic DNA phenotyping allows to narrow down the focus of a criminal investigation. In this article, drawing on interviews with forensic geneticists, we explore how their narratives translate contemporary focus on criminal molecularized bodies. We propose the concept of (de)materialization to approach three aspects of the forensic geneticists’ views. The first regards considering bodies as mutable entities. The second relates to socially contingent meanings attributed to bodies. The third regards to controversies surrounding data reliability. By reflecting upon the (de)materialization of criminal bodies, forensic geneticists juxtapose the defence and unsettling of forensic DNA phenotyping claims.