National Missing Persons Week 2021

DNA LaboratoryNational Missing Persons Week 2021 

During National Missing Persons Week, we acknowledge the work of the forensic experts at NSW Health Pathology’s Forensic & Analytical Science Service who provide vital support for missing persons investigations and the identification of human remains.

This is an area of significant focus for our world-leading specialists who use advanced technology to obtain DNA profiles from human skeletal remains including those that in the past may have been too compromised by time or environmental exposure to be successfully analysed.

The combination of advanced technology and Forensic & Analytical Science Service expertise has resulted in large numbers of DNA profiles being recently added to the national DNA database. Currently, more than 65% of the DNA profiles on that database originate from NSW.

Complex algorithms have been designed to continuously search the national DNA database in the hope of finding a biological relationship between those DNA profiles recovered from unidentified human remains and the relatives of missing persons who have provided their DNA to assist investigations. This is known as “familial searching” and there have been some extraordinary outcomes including the linking of a bone found on a beach in 2011 with a missing person case from 1979. You can hear more about this story in the “Lost at Sea” series on the NSW Police “Investigations” podcast.

Another unique collaboration between the Forensic & Analytical Science Service and NSW Police is the full analysis of legacy skeletal remains which, in some cases, are many decades old.

This extensive work included anthropologist examinations, the review and mapping of dental records, DNA testing and expert review of historical records. The respectful management and repatriation of these remains, including burial arrangements in cooperation with surviving family members, is of the utmost importance.

NSW Police Force State Crime Commander, Assistant Commissioner Stuart Smith, praised the ongoing collaboration between investigators and forensic experts.

“The work of the Forensic & Analytical Science Service on behalf of the state is crucial to what we do as police,” Assistant Commissioner Smith said. “With technology advancing every day, we need to continue to be innovative in the way we pursue investigations and identify areas of development to solve cases.

“The analysis of forensic samples conducted by the experts at the Forensic & Analytical Science Service is integral in helping police provide families of missing persons with answers that may not have been possible without these advanced forensic capabilities,” Assistant Commissioner Smith said.

Y chromosome and mitochondrial testing

To maximise the chance that a DNA profile from unknown human remains can be linked to a relative’s DNA profile, our experts use multiple technologies including lineage markers inherited from a person’s mother or father. This gold standard approach means that the 85% of the NSW unknown human remains on the database have DNA profiles in multiple systems.

Specialised DNA testing that targets the male Y chromosome (passed down intact through the paternal line) is used along with mitochondrial DNA testing (passed down through the maternal line).  Our forensic DNA experts are also using the more complex mitochondrial testing for the most challenging and highly compromised unknown human remains which may not be suitable for any other DNA testing method.

You can see video of our DNA lab in action here.

As part of our commitment to providing answers for grieving families, the Forensic & Analytical Science Service is also applying the latest technologies to retest hundreds of reference samples from relatives of missing persons as well as personal effects from the missing person, such as toothbrushes or blood samples.

Genomics and Massively Parallel Sequencing

NSW Health Pathology has considerable expertise in genomic diagnostics which is the study of all a person's genes. Our pathologists and scientists are developing faster, more efficient tests for an ever-expanding range of genes linked to hereditary conditions.

At the Forensic & Analytical Science Service, we are now applying genomics knowledge to forensic investigations using Massively Parallel Sequencing, which uses DNA profiles to predict ancestry and external visible characteristics, such as hair and eye colour. This technology is valuable for unknown human remains that have not been linked to any of the DNA profiles from relatives of missing persons on the national database. The Forensic & Analytical Science Service was the first forensic laboratory in Australia to implement in-house phenotyping and ancestry analysis. 

The timely identification of human remains, and the progression of missing persons cases, is managed via a multi-agency approach that includes NSW Health Pathology, NSW Police and the Department of Communities and Justice.

NSW Health Pathology’s Forensic & Analytical Science Service is strongly committed to this important work and we will continue to search for answers for families who are affected by the unexplained disappearance of a loved one.