THE WINSTON CHURCHILL MEMORIAL TRUST OF AUSTRALIA

THE WINSTON CHURCHILL MEMORIAL TRUST OF AUSTRALIA Report by Kirsty Wright 2003 Churchill Fellow To investigate improved methods of DNA profiling for use in forensic casework and disaster victim identification. I understand that the Churchill Trust may publish this Report, either in hard copy or on the internet or both, and consent to such publication. I indemnify the Churchill Trust of any loss, costs or damages it may suffer arising out of any claim or proceedings made against the Trust in respect of or arising out of the publication of any Report submitted to the Trust and which the Trust places on a website for access over the internet. I also warrant that my Final Report is original and does not infringe the copyright of any person, or contain anything which is, or the incorporation of which into the Final Report is, actionalbe for defamation, a breach of any privacy law or obligation, breach of confidence, contempt of court, passing-off or contravention of any other private right or of any law. Signed Dated

INDEX Page 1. Introduction 3 2. Executive Summary 4 3. Programme 6 4. Main Body 7 5. Conclusions 8 6. Recommendations 8

INTRODUCTION This report outlines information gained from forensic biology laboratories in America and England during a 2003 Churchill Fellowship to investigate improved methods of forensic DNA profiling. The Fellowship was utilised to research the following; Processes involved in mass disaster victim identification (DVI) using DNA profiling. The implementation of a Missing Persons DNA Database in Australia. Laboratory automation. Improved analytical casework techniques. The acceptance and successful completion of my Churchill Fellowship would not have been possible without support, encouragement and advice from; The Australian Winston Churchill Memorial Trust, through financial support, and worldwide reputation, has created opportunities for learning and advancement of Australian Forensic Biology that would otherwise not have been possible. The management team at Queensland Health Pathology and Scientific Services (QHPSS), whose dedication to continuous improvement and provision of high quality forensic services to the community, allowed me the time and resources to undertake my Fellowship. My colleagues at Queensland Forensic Biology who have supported this Fellowship and realised the benefits it will bring to our team, and the Australian Forensic Biology community. A special thanks to the hardworking casework scientists who covered my workload while I was overseas. The staff at the laboratories I visited in America and England who made me feel welcome, and were eager to share their knowledge and experience, and establish long-term information networks. My friends and family for their support and humour.

EXECUTIVE SUMMARY Personal Details: Kirsty Wright, Forensic Biology Casework Scientist, QHPSS Forensic Biology, 39 Kessels Road, Coopers Plains QLD 4216. Ph: (07) 3274 9167 E-Mail Kirsty_Wright@health.qld.gov.au Project Description: To investigate improved methods of DNA profiling for use in forensic casework and disaster victim identification. Fellowship Highlights 1. The 2004 Midwestern Association of Forensic Scientists Symposium Chicago. Attended seminars and met scientists participating in improved analytical techniques and laboratory automation. 2. Kenyon International Houston. Investigated improved methods of mass DVIs. 3. Palm Beach County Sheriff s Office Forensic DNA Laboratory. Observed the successful validation and implementation of laboratory automation for use in forensic casework. 4. Dade County Sheriff s Office Forensic DNA Laboratory Miami. Discovered improved methods of forensic evidence screening for semen, and high throughput processes for DNA profile results management. 5. The Office of the Chief Medical Examiners Office (OCME) Forensic DNA Laboratory New York. Investigated processes, software and instrumentation being used in the DNA identification of the 2,800 victims from September 11, and software for the Missing Persons DNA database. 6. The Federal Beauro of Investigation (FBI) Forensic Biology Research Units Virginia. Investigated improved analytical techniques. 7. Armed Forces DNA Identification Laboratory (AFDIL) Maryland. Observed laboratory automation and software to facilitate the decreased turnaround time for a high throughput laboratory. Investigated DVIs and Missing Persons. 8. BODE DNA Laboratory Springfield. Studied laboratory automation and process mapping. 9. Trident Court and Priori House Forensic Science Services (FSS) Forensic DNA Laboratory Birmingham. Witnessed laboratory automation for high volume forensic casework, visited the research department to see the development of the latest Forensic Biology techniques, and visited the Litigated Forensic Casework Unit. 10. London FSS Forensic DNA Laboratory. Investigated improved casework techniques. 11. Wetherby FSS Forensic DNA Laboratory York. Researched DVIs and the Missing Persons DNA Database.

Findings A variety of methods and ideas were obtained in accordance with the specified aims of the Fellowship. Major findings included; The use of new laboratory instrumentation for decreasing workloads and turnaround times, and increasing sensitivity and quality. The identification of processes and software that can be implemented in preparation for mass DVIs. Advice and demonstrations relating to the implementation of a Missing Persons DNA Database. The implementation of Y-STRs for casework, including sexual assaults and Coronial investigations. Seminars Presentations for the QLD Forensic Biology staff, QHPSS staff and management, Griffith University, the QLD Australian New Zealand Forensic Science Society (ANZFSS) branch, 2006 ANZFSS Symposium, Forensic Biology Special Advisory Group (SAG). Reports Detailed report for QHPSS management and Forensic Biology staff. Research 1. Implementation of a Missing Persons DNA Database in QLD. 2. Implementation of improved mass DVI response plan for Forensic Biology labs. 3. Recommendations for the acquisition of software and instrumentation for laboratory automation to facilitate decreased turnaround times for high volume forensic casework. 4. Validation and implementation of Y-STR analysis to increase the quality of results from sexual assaults, and provide an additional means of identification for missing persons.

PROGRAMME Chicago, America 19 th April 21 st April 2004 Midwestern Association of Forensic Science Symposium. Houston, America 26 th April 27 th April The Houston Forensic Biology Laboratory. Kenyon International. Palm Beach, America 29 th April The Palm Beach County Sheriff s Office Forensic Biology Laboratory. Miami, America 3 rd May Dade County Sheriff s Office Forensic Biology Laboratory. New York City, America 4 th May 7 th May The Office of the Chief Medical Examiners Office Forensic Biology Laboratory. Virginia, America 12 th May The Federal Beaureu of Investigation Forensic DNA Research Units. Maryland, America 17 th May The Armed Forces DNA Identification Laboratory. Springfield, America 18 th May BODE (Private) Forensic DNA Laboratory. Birmingham, England 24 th May 28 th May Trident Court Forensic Science Services (FSS) High Volume Forensic Casework, and Research Units. Priori House FSS Litigated Casework Unit. London, England 3 rd 4 th June London FSS Litigated Casework Unit. York, London 8 th 9 th June Wetherby FSS DVI, Missing Persons, Litigated Casework Units.

MAIN BODY 1. Mass Disaster Victim Identification Identification. Identifying deceased individuals from a mass disaster using DNA profiling requires techniques and systems that can quickly and accurately process large numbers of biological samples for subsequent reconciliation. Improved DNA extraction techniques from bones, disaster and laboratory information management software, specimen and processing structures were investigated. Some remains recovered from a mass disaster site are compromised, and fail to provide a DNA profile using traditional DNA extraction techniques from bone. Improved bone extraction protocols were obtained from the OCME and Bode, the two laboratories involved in the DNA identification of victims of the World Trade Centre (WTC) attacks, and the American Airlines Flight 587 disaster. The high throughput method developed by Bode resulted in 65% of the WTC samples, and 92% of Flight AA587 producing rapid results. The method developed at the OCME is being utilised for the WTC samples that did not DNA profile using the Bode high throughput method. These samples are particularly difficult to extract DNA from owing to the compromised quality and degradation of the bones. Software that can facilitate laboratory information management for receival, tracking and processing of large quantities of samples, and the identification of deceased through reverse paternity and kinship statistical analysis were investigated at the OCME, AFDIL, and the FSS. Staff demonstrated how such software increases throughput, decreases turnaround, reduces the possibility of human error, improves sample tracking and continuity, produces fast and accurate matching and statistical analysis of DVI samples thereby reducing the period of time until reconciliation. 2. Missing Persons DNA Database Currently there is no formal missing persons DNA database in Australia. Such a database is used for storing DNA profiles of relatives of missing persons, and of unidentified human remains. Computer software matches and provides statistical information on the likelihood of remains belonging to a reference family set. The software packages described above used at AFDIL and the OCME for DVIs can also be used for a missing persons database. Additional information was gained at the Wetherby FSS laboratory from the manager of England s missing persons database, relating to the most effective way to structure and utilise such a database, and certain criteria for its implementation and continued use. The likelihood of implementing a successful missing persons database in Australia is not difficult with current software available. The real difficulty will be obtaining DNA profiles from compromised bone samples that have been

left undiscovered for a number of years before recovery. However, improved bone extraction techniques were researched at the OCME in New York, AFDIL in Maryland, BODE in Springfield, and the FBI in Virginia. These methods could be implemented to increase the possibility of obtaining DNA profiles from degraded bone samples. Once a DNA profile is obtained, it needs to be compared to known relatives to find a match. Therefore, the other limitation is finding living relatives of suspected missing persons to compare the bones to. Finding and collecting reference DNA profiles from relatives of missing persons would however be the responsibility of the Police Service rather than the forensic laboratory. 3. Laboratory Automation Processing DNA samples at the analytical stages is currently labour intensive and repetitive. Automating part of this procedure will increase throughput, decrease turnaround time, and free staff to perform other duties. Instrumentation that can perform DNA extraction; quantitation, amplification, and GeneScan set-up were investigated at a number of laboratories in the USA and UK. Forensic laboratories at The Palm Beach County Sheriff s Office, Dade County Sheriff s Office, the OCME, FBI, AFDIL, Bode, and the FSS provided information, or demonstrations on a variety of automated systems. The success of implementing automation within a forensic laboratory to decrease turnaround time is dependant on a number of key factors. Adequate experienced staffing levels are essential to trial, validate and optimise the new instrumentation. Additional staff is needed to screen and prepare evidence samples to feed into the automated systems, and to manage the backend analysis of the samples for inclusion on our National DNA Database. Downstream instrumentation need to be implemented and adequate to cope with the increase of samples generated by automated platforms. All laboratory processes need to be reviewed and streamlined from receipt to reporting to avoid any bottlenecks. One of the most important requirements is a specifically designed LIMS software package that can be fed into the automation system. Without addressing these issues, automation could invariably increase turnaround times, and negate any advantages they bring to a laboratory. The FSS in England implemented automation to decrease turnaround times for their known offender reference samples, and come of their high volume crime samples. They have been refining their processes for many years, and currently boast a 6 day turnaround time from evidence receipt, to DNA matching on their National DNA Database. Some overseas forensic laboratories I visited were entrenched in outdated technology, which were preventing them from applying new instrumentation and systems without total disruption to existing processes. We are fortunate

in our laboratory not to have those restrictions, and have a unique opportunity to implement the best technology available, as identified and used by the world s leading forensic facilities. It is essential that any new system or instrumentation implemented into a forensic laboratory that will permanently change processes, is thoroughly evaluated to determine long-term advantages, and ensure it is dynamic enough to cope with constant changes and demands of workflow. 4. Y-STRs Forensic cases where there is a greater portion of female DNA in a male/female DNA mixture, can result in the male DNA profile being partially detected, or not detected entirely (using autosomal STRs). Y-STRs are beneficial in circumstances where an intimate sample is taken from a female victim of known identity, and the male perpetrator s identity is unknown. Such criminal cases could include sexual assaults: Vaginal swabs taken from the female victim will primarily contain her epithelial cells, and depending when the assault occurred, low numbers of sperm (1:100 mixtures not uncommon). Bite marks on the female victim from a male offender is swabbed for his saliva, and would contain a higher proportion of female epithelial cells. Other applications include paternity cases, missing person investigations, or DVIs: Where the father is not available for analysis, and inferences can be made by testing relatives in the father s male lineage. Where the mother is not available, and the child is male (test father and child only). I believe they could also be used for a missing persons DNA database, where incomplete family units exist for comparison to unidentified male remains. The Midwestern Association of Forensic Scientists featured four speakers specializing in forensic Y-STR analysis. An in-depth perspective detailing how to validate, implement, and report Y-STRs were presented, and their likely benefit to forensic casework.

CONCLUSIONS Observation and research conducted during my Churchill Fellowship yielded a wide variety of information relating to the implementation of a missing persons database, improved DVI processes, and laboratory automation. The potential benefits include; The fast and effective identification of victims of mass disasters, and missing persons. Increased throughput, decreased turnaround time, increased quality of DVI samples. Improved turnaround time and throughput for analysis of litigated and high volume forensic biology cases through laboratory automation. A detailed report will be provided to the QHPSS Forensic Management and staff, addressing all information gathered during my Fellowship visit. Reports and presentations will be made to the Queensland Forensic Biology staff, SAG members, ANZFSS members, the Queensland DVI Committee, and the network of Australian Forensic Biology laboratories. My position as a parttime university lecturer at Griffith University will allow me to incorporate the latest forensic information into subject material presented to under-graduates, and seminars for post-graduate students and academic staff.

RECCOMMENDATIONS 1. Mass Disaster Victim Identification Identification. A comparison study of the current DNA bone extraction method used in Australian Forensic Biology laboratories, with the Bode and OCME methods is recommended. Quality, turnaround time, accuracy and cost should be considered when analysing results from each method. The Queensland Forensic Biology laboratory has the resources and experience to conduct this study, and would share findings with other state Forensic laboratories. Information gained from overseas laboratories currently using improved laboratory information systems will be beneficial to QHPSS, who are currently considering such tools for implementation into Forensic Biology. This will assist in tailoring our system for specific forensic needs, as identified and trialed by the laboratories visited during my Fellowship. 2. Missing Persons DNA Database Steps are currently being taken by QHPSS and the Queensland Police Service to develop and implement a missing persons DNA database in Queensland. Information gained from the laboratories visited during my Fellowship has identified the most effective structure, advantages and limitations of current missing persons databases in the UK and USA. 3. Laboratory Automation The Queensland Forensic laboratory is considering automating some analytical processes. A broad range of information was gained from the overseas laboratories, which will be beneficial in the restructuring process currently being undertaken, and can be presented to other Australian Forensic laboratories considering automation. 4. Y-STRs Forensic biology laboratories are currently considering introducing Y-STR analysis into casework. It is recommend that a common Y-STR system is introduced to all laboratories, so interstate results can be directly compared.