Best practice recommendations for the establishment of a national DNA identification program for missing persons: A global perspective

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Abstract

I was awarded a 2015 Churchill Fellowship to visit international laboratories which have specialisation in the DNA identification of unidentified human remains (UHR), applied new technologies to DNA identification casework including the massively parallel sequencing (MPS) of mitochondrial DNA (mtDNA) and forensic DNA phenotyping markers, and established successful DNA-led identification programs for missing persons (MP) casework or disaster victim identification. The goal of the Fellowship was to improve the DNA profiling outcomes for the 500+ cases of UHR in Australia, explore new technologies or DNA markers which could aid the identification effort in the absence of other investigative leads, and devise recommendations for the establishment of a DNA identification program for the 2000+ long-term MP in Australia. Despite DNA being used worldwide to successfully identify large numbers of MP resulting from armed conflicts, human rights abuses and natural or man-made disasters, the cost, labour and success rate of using DNA for routinely identifying compromised UHR has historically been prohibitive for many countries, resulting in current backlogs of identification casework. The introduction of a nationally coordinated DNA testing program, and adoption of DNA technological advancements, will facilitate the effective and efficient identification of a country’s unknown and missing citizens thus bringing closure to potentially large numbers of missing person and criminal cold cases. I will translate key Fellowship findings into practical recommendations for the establishment of a national DNA identification program based on international best practice that will be applicable for any country considering implementing a DNA-led MP program.

Introduction

INTERPOL [1] recommends every country should implement a MP DNA identification program according to international standards to identify their missing and deceased persons. A DNA-led approach will be essential for countries with a large number of unsolved UHR/MP cases, insufficient police resources to investigate cases often with minimal investigative leads, or where there is a need to re-associate fragmented or commingled remains. Globally, there are exemplar DNA identification programs for resolving large numbers of MP (e.g. International Commission on Missing Persons (ICMP), University of North Texas Centre for Human Identification (UNTCHI)), however most countries do not provide adequate resources for the routine processing of DNA samples for MP investigations resulting in significant casework backlogs. For example, in Australia it is estimated that there are more than 500 UHR and 2000 long-term MP cases.

The Scientific Working Group on DNA Analysis Methods (SWGDAM) [2] have devised guidelines for the processing and analysis of MP casework. The comparison of UHR DNA profiles to DNA profiles from MP-related reference samples can be an essential step in the identification process. However, DNA profiling of compromised skeletal remains can often be challenging using routine nuclear DNA (nDNA) testing procedures and may require a suite of specialist DNA testing procedures. The adoption of DNA technological advancements being explored internationally such as MPS of whole mtDNA genomes and single nucleotide polymorphism (SNP) panels will facilitate and enhance the DNA profiling of large numbers of compromised samples. Furthermore, the utilisation of forensic DNA phenotyping markers will assist identification efforts by predicting an individual’s ancestry or physical appearance when there is a lack of intelligence information surrounding the identity of the remains, as well as complement anthropological findings.

As a recipient of a 2015 Churchill Fellowship, I visited countries which have established successful DNA-led identification programs for MP and laboratories which have specialisation in the DNA identification of UHR. Highlights from my Fellowship include visiting the ICMP in Bosnia and Herzegovina, INTERPOL in France, and DNA laboratories in the Netherlands, United States and Argentina which are dedicated to the DNA-led identification of MP resulting from crime, war, terrorist attacks, environmental disasters, migration or human rights abuses. I will translate key Fellowship findings [3] into practical recommendations for the establishment of a national DNA identification program based on international best practice that will be applicable for Australia and any other country considering applying DNA-led identification techniques for MP.

Section snippets

Laboratory recommendations

  • Establishment of an ISO/IEC 17025 accredited Centre of Specialisation for MP casework

  • Dedicated DNA laboratory and forensic anthropology facilities staffed by DNA Specialists and Forensic Anthropologists/Odontologists

  • Separation of post-mortem (PM)/ante-mortem (AM) sample, pre-/post-PCR and nDNA/mtDNA laboratories

  • Dedicated PM sample preparation laboratory with bone preparation hoods, equipment and expertise

  • Modular DNA laboratory workflow with dedicated staff for each analytical process

  • MPS

Sampling recommendations

  • UHR examined by a Forensic Pathologist, Anthropologist and/or Odontologist prior to DNA testing

  • Best practice sampling guide developed and distributed to all specialists involved in the selection and sampling of UHR for DNA testing

  • Window section of bone excised from long bones, avoiding anthropologically informative areas, and additional sample archived

  • Optimal PM skeletal samples include: teeth, femur, tibia, metatarsal, talus, pelvis and petrous portion of temporal bone

  • Optimal AM samples

DNA testing recommendations

  • Sample decontamination by physical (i.e. sanding), chemical (i.e. bleach, water, ethanol washes) and UV sterilisation methods

  • Sample powdering using freezer mill, commercial blender or drill

  • Total demineralisation of sample powder and inorganic or organic DNA extraction method

  • Quantification using multi-target real-time PCR assay with sample quality (i.e. degradation, inhibition) assessment features

  • 2x autosomal short tandem repeat (aSTR) kits (including mini-STRs) plus a low copy number method

Database recommendations

  • A specialised ‘grave-to-grave’ database management system capable of managing a large-scale identification program (e.g. Identification Database Management System)

  • High standards of data protection and quality control

  • National database for storage and searching of MP and UHR metadata (e.g. National Missing and Unidentified Persons System)

  • National DNA database for storage and direct/kinship searching of genetic data (e.g. Combined DNA Index System)

  • PM sample DNA profiles searched against DNA

Reporting recommendations

  • Likelihood Ratios (LR) used to evaluate genetic associations for each genetic marker system (with combined LR presented where appropriate)

  • Prior probabilities used where relevant non-genetic evidence is available

  • A high posterior probability (≥99.95%) used as reporting threshold for identification and ideally supported by a lineage marker match

  • Additional aSTR loci, relative AM samples or genetic markers (e.g. Y-STR/mtDNA, SNPs) tested to exceed reporting threshold

  • Relevant local, national and/or

Funding & legislation recommendations

  • Government funded program which covers laboratory establishment (e.g. infrastructure, equipment, kits, software, method validation), specialist services (e.g. anthropological analysis, DNA testing), AM sample collection, staff labour, training and publicity costs

  • Funding centralised within the MP Centre of Specialisation with free specialist services offered to all police/coronial agencies in the country

  • Development of a national MP policy

  • Development of national legislation to mandate use of MP

Conclusions

The establishment of a Centre of Specialisation with dedicated human, physical and financial resources for conducting all of a country’s MP casework, and the introduction of a nationally coordinated DNA testing program which incorporates MPS technology, whole mtDNA genome sequencing and forensic DNA phenotyping, will facilitate the successful identification of a country’s unknown and missing citizens. Finally resolving the unaddressed and under-resourced issue of MP and UHR casework backlogs,

Conflict of interest statement

None.

Role of the funding source

My Churchill Fellowship was funded by The Winston Churchill Memorial Trust, Australia.

Acknowledgements

I would like to thank The Winston Churchill Memorial Trust, Australia for the award of a 2015 Churchill Fellowship to investigate specialist DNA techniques for the identification of compromised human remains and the Forensic & Analytical Science Service, NSW Health Pathology for affording me the time to undertake my Fellowship. This Fellowship would not have been possible without the plethora of inspirational people that generously shared their time, expertise and passion with me at the

References (3)

  • INTERPOL (DNA Monitoring Expert Group)

    Best Practice Principles: Recommendations on the Use of DNA for the Identification of Missing Persons and Unidentified Human Remains

    (2015)
There are more references available in the full text version of this article.

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