Jodie Ward, Ph.D. 37 min

The Objectives and Outcomes of Australia’s ‘National DNA Program for Unidentified and Missing Persons’


There are approximately 750 unidentified human remains and 2500 long-term missing persons in Australia. Dr. Ward spent a decade researching international best-practice for implementing a DNA-led identification effort for missing persons investigations, and advocating for a national program to scientifically link Australia’s unknown human remains and known missing persons using centralized and contemporary forensic technologies, databases, and experts. In 2020, she partnered with the Australian Federal Police National Missing Persons Coordination Centre to successfully apply for the federal funding required to establish the National DNA Program for Unidentified and Missing Persons. This multifaceted, multi-stakeholder and multidisciplinary program is assisting Australian law enforcement to solve decades-old cases by using a suite of forensic tools and populating national and international databases. The Program’s capabilities include forensic anthropology, forensic odontology, radiocarbon dating, isotopic analysis, autosomal/Y-chromosome/mitochondrial DNA testing, forensic DNA phenotyping, forensic investigative genetic genealogy, and craniofacial reconstruction. The Program has assisted to identify a number of human remains from historical and contemporary contexts, resolve cases deemed to be of no forensic significance, and provide investigative leads for others. This success has centered on forging collaborative partnerships with police, coronial and intelligence agencies across Australia, national and international forensic experts in government, university and private laboratories, and families of missing loved ones.



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[Music]

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Hi, my name is Dr. Jody Ward and I'm the lead of the AFP's National DNA Program

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for Unidentified Missing Persons and I'm delighted to be joining

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HITS 2024 this year to talk about our program objectives

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and the outcomes of the four-year program.

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So the driver for our National DNA Program for Unidentified and Missing Persons

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really came about because I became aware that there were hundreds of

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unidentified human remains in Australia some years ago.

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So I spent a number of years campaigning for the support and funding we needed

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to

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establish a nationally coordinated program like this.

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And then in 2020 I collaborated with the Australian Federal Police National

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Missing Persons Coordination Centre to apply for approximately $3.6 million

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in proceeds of crime funding to establish our program and we awarded that

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funding

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in 2020. So as part of our National DNA Program

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for Unidentified and Missing Persons one of our first aims was to conduct a

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national audit of all of the unidentified and missing persons cases

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in Australia because up until now we really only had an estimate of how many

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we had in this country. So as a result of our audit we were able to

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establish that there were approximately 750 sets of

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unidentified human remains in Australia and two and a half thousand long-term

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missing persons. So this project was going to span cases

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that were found as recently as this year and dating back as far back to the

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40s and the 50s of last century. So the scope of the work was quite large

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in terms of the I guess diversity of remains, how degraded they were,

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how old they were. Also the level of previous forensic

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testing varied greatly. So as part of the audit we were trying to

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establish what level of forensic testing had been conducted

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previously and that was often dependent on the year

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in which the remains were recovered. And then it was an opportunity for us

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to collaborate with the case investigators to establish

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how the program could assist them progress these cases.

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So we had to establish what was left in the case. Did we still have a full

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skeleton available? Did we only have an alacort of DNA sitting in a freezer?

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And then we were able to work with them to establish an individualised

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examination plan, you know, starting sequentially with our

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routine DNA testing methods and then progressing to our more advanced

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methods if that was necessary. So with our program we

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pride ourselves that it's a multi-disciplinary forensic program. We do have

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DNA in the title and it is DNA led in many respects.

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But prior to us investing in any DNA testing

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our remains undergo a number of non-DNA techniques.

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So once we receive a set of remains the first examination that is conducted

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is a forensic anthropology examination and we undertake that to try and

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estimate

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the biological profile of that individual. So sex, age, ancestry and

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stature if we have those skeletal elements available.

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And then we engage a forensic odontologist to conduct a

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dental record examination if there are teeth present in a particular case.

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And once our odontologist has conducted that examination they will upload those

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dental records to our national missing persons and victim system.

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This is our national database that collates all of the case information

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about unidentified missing persons cases and it's our only platform

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for the searching of dental records nationally.

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So we do ask that before we proceed with DNA testing that we ensure that that

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dental record search has been conducted first.

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As I'm sure many of the viewers understand its fingerprints, dental and

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DNA are the three primary identifiers. Unfortunately for the remains that we

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see we don't have fingerprints available so we always ensure that we do our

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dental record checks before proceeding with DNA testing.

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Failing a dental record match is when we will then consider routine DNA testing

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And so for our program routine DNA testing includes

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autosomal STR profiling, y-chromosome STR profiling,

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and whole mitochondrial genome sequencing. We always perform autosomal STR

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testing

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on our set of remains because our national criminal investigation

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DNA database is comprised primarily of STR profiles.

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So we always want to try and generate an STR profile that we can search on our

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national law enforcement database if we can achieve that.

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If we know that we are dealing with a set of mail

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unidentified human remains we will also routinely perform

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y-chromosome STR profiling and that's so we can provide

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the zoot jurisdiction back with two different DNA modalities.

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So we'll have the autosomal and the y-chromosome DNA profile for searching.

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If we have a female unidentified human remains we will also routinely proceed

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with mitochondrial DNA testing. Again so we can provide them

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back both the autosomal STR profile and a complementary mitochondrial

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DNA profile. So we know that for some of our remains they are likely to be

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international citizens which have visited Australia.

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And we're making those assumptions based on a number of

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personal effects and things found with some of the remains.

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So if there's any indication that an individual might have come from overseas

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we are recommending that that DNA profile gets submitted to the

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interpol DNA database for searching internationally before we're

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proceeding with some of our more emerging DNA technologies.

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If all of those primary tools have been exhausted

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and the individual is still unable to be identified

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that's when we can explore our newer technologies that we have validated at

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the AFP. So one of those is forensic DNA phenotyping

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which we use to estimate the unknown individuals

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biogeographical ancestry hair color and eye color.

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And we do that to not only provide investigative leads to help

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the investigator narrow down the list of potential missing persons that it

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could be but we also perform cranial facial

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reconstructions as part of our suite of identification tools.

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So if there is a skull present for some of the remains

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we're able to proceed with the cranial facial reconstruction later in our

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investigation and we can then apply that pigmentation information that we've

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been able to obtain through forensic DNA phenotyping

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to those cranial facial reconstructions to ensure that that reconstructed

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image is as realistic as possible when it's disseminated out into the public.

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The newest technology we've brought online is forensic investigative

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genetic genealogy. Our lab is the only accredited

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forensic lab in the country which is able to perform the

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SNP testing required to generate the profile for upload.

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We typically use forensic investigative genealogy as

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last resort testing and we do that because

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the privacy policy we abide by is this sequential unmasking of genetic

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information. So we use those genetic tools which reveal

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very little about a person and have less privacy

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implications and then we progress sequentially up to the phenotyping

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and the forensic investigative genetic genealogy which is obviously revealing

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a lot more about an individual and can make connections with a lot more

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relatives on public and private genetic genealogy

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databases. So in terms of the legislation in Australia it's actually silent

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on these emerging forensic genomics technologies.

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So we have implemented a number of policies and procedures at the Australian

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federal police which govern how we utilize these new

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forensic genomics tools. So forensic DNA phenotyping and our

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forensic investigative genetic genealogy kind of looked at every point in the

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process as to how we could best reduce any privacy

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impacts to those individuals working with us in the program.

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Also when you think about something like forensic investigative genetic gene

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alogy

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you know we're now dealing with very distant relatives of a missing person

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that wouldn't even know that they have a missing person in their family.

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So in terms of us informing those relatives you know that's very difficult

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for us to do in terms of the risks to participating in our program.

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So one of the recommendations as part of our privacy impact assessment was to

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ensure that we were taking a very transparent approach

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with the DNA tools we'll be using and the DNA databases we were accessing.

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Once we've generated an autosomal STR profile from a set of remains

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it gets uploaded to a state DNA database by the jurisdiction

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and then it gets uploaded to our national criminal investigation DNA

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database and at that point it is searched against

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every DNA profile on that database. So it will be searched against

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crime samples, offender samples and then those unidentified human remains

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DNA profiles get migrated across to a separate section

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of our national database. In that particular section of our database

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we upload DNA profiles from relatives of long-term missing persons.

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So this functionality was created a few years ago

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and this is part of the database is termed our national integrated forensic

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analysis system. So this allows unidentified remains

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profiles to be migrated across after they've been searched against all other

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indices on our national database including against DNA profiles

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from missing persons. So these are direct reference samples

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collected after someone has been reporting missing. So this could be a DNA

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profile from a toothbrush, a razor from a stored biological

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sample of the missing person. This functionality came about a few years

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ago because prior to that our national DNA database only allowed for direct

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searching and matching which was fine if you had a direct reference

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sample from a missing person but for many of our historical cases we

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don't have direct reference samples because of the age

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of the case at all because these samples weren't collected

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historically at the time of someone at the time someone was reported missing.

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So we're now at this point relying on relatives of missing persons to provide

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DNA so we want to assure them that when their DNA is collected that it's

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only being searched against unidentified human remains DNA profiles.

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This new functionality also allowed us to perform

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kinship searching which wasn't available on our national DNA database

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before. So this has been quite groundbreaking in

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Australia because it now means that we can

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nationally search relatives against or unidentified remains in Australia.

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Previous to this this could only happen at a

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jurisdiction by jurisdiction level. So I had huge concerns that were

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actually missing potential matches of unidentified and missing people at a

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national level without having a national kinship

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searching capability and we have seen the results of that as part of our

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program where we are seeing links being made

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at the state level as well as the national level

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using using our kinship searching capability.

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So the national integrated forensic analysis system also now allows us to

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upload Y chromosome STR profiles and mitochondrial

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DNA profiles. So this was also new but as you imagine it's

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been hugely important for missing and unidentified persons investigations.

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Not only does it allow us to refine candidate lists when we are performing

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these familiar or kinship searches but in some cases

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for some of our particularly old and degraded set of remains we might only be

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able to generate a mitochondrial DNA profile.

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So this now allows us the opportunity to search mitochondrial DNA profiles at a

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national level which we haven't been able to do before.

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So our program has received almost 100 unidentified human remains cases

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to date. We've received those from six out of our eight

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state and territory jurisdictions. They have come to us

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for a diversity of forensic testing techniques.

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So some have only come in for DNA testing and some have come in

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right at the start where we've been able to facilitate the forensic

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anthropology and have progressed all the way to forensic

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investigative genetic genealogy. So all of them are

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assessed on a case-by-case basis and then we determine the best

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examination strategy to apply. So far of those approximate 100

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cases we've been able to resolve 50% of them.

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So 50 cases have been resolved. Now what does that mean?

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Well we have been able to link 18 sets of unidentified human remains to 16

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long-term missing persons in Australia.

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The difference in the number is because we've been able to link

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two sets of separate remains as being the one individual.

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So we're extremely proud of being able to restore the identity

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of 16 sets of unidentified human remains as some of our long-term

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missing people. Of those remaining 32 sets of unidentified human remains we've

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been able to triage them as not being a coronal

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significance. So we've been able to reduce the number of what we believe are

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coronaly significant unidentified human remains cases in this country.

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So the first case our program team helped resolve

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was a set of partial remains which washed up on a beach in South

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Australia in 1977. The South Australia police had

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investigated that case over a number of decades but unfortunately

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weren't able to identify that individual. They knew it was likely to be a set

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of male remains, likely an adult, and that was determined

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through the forensic anthropology examination.

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So in 2021 South Australia police submitted a bone sample to our program.

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We were able to recover both an autosomal and a y chromosome

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STR profile. We were then able to return those profiles to the South

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South Strait police investigators and they worked with their local

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forensic laboratory. So they were able to compare the DNA profiles we were able

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to generate from the set of remains to a DNA profile that they had sourced

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from a living family member. Now this person they believed

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was the potential brother of the unidentified human remains

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and they had established this through a renewed police investigation

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over the last couple of years and they based this on the fact that

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this missing person went missing in the locality of where the remains were

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found approximately six months prior to those remains washing up.

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So they were able to find a living relative who was

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who was quite old at this stage who consented to providing a DNA reference

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sample and then the South Australian lab was

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able to perform kinship analysis with the reference sample they had on hand

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and through that process and then through the coronal

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process following that the coronal was satisfied that we had

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used DNA test dentists to identify those remains

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as Mario de la Torre who hadn't been seen since 1976.

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I guess at some point when you're commencing a program like this you have

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this fear that you may not identify a single person.

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So for me personally you know there was huge relief when we were able

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to assist in the identification of our first set of unidentified human

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remains and you know Mario hadn't been seen

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by his family for 40 or 50 years they never knew the fate or

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whereabouts of Mario so to still have living relatives alive

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that were now able to get those answers that they had waited decades for

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for us was it made it all worth it and and that came in 2021

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and the coroner accepted that identification in February 2022

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so you know we we were 18 months into our program by the time we

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obtained our first identification so our program team was also privileged to

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assist the Royal Australian Navy identify our unknown sailor

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so we had an unknown sailor that was recovered

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at the start of 1942 it was believed that this

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soldier had died in November 1941 when a ship of about 645

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Australian sailors was gunned down by a German warship

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it sunk and all 645 men on board had died

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however there was this life raft which floated ashore on Christmas Island

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which is a small island off the coast of western Australia

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with a deceased individual inside and they believed that to be an Australian

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sailor at the time he was buried in an unmarked grave on

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Christmas Island and then in 2006 the Royal Australian

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Navy went and tried to find his grave because they wanted to try and

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identify this particular individual trying to find his grave

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wasn't an easy task in itself they didn't have any records to rely on so

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it was really relying on individuals which were still alive that might have

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had some recollection of where that individual was buried

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so I think after a number of false digs they did recover a set of remains

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they did find a number of artifacts left over from the clothing

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like I think it might have been buttons that gave them some indication they

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were looking at the uniform of an Australian sailor

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and so a team of forensic experts archaeologists and anthropologists

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excavated the grave at that time they tried to

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establish the biological profile of the individual

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in terms of his age, sex, ancestry, stature, the odontologist examined

21:27

his dental work to see if that matched against any dental records that the

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navy had they also took some bone samples for

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isotope testing and DNA testing. Now in 2006 the DNA

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testing techniques available are definitely not as sensitive

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as they are now so they were unable to detect any autosomal or

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y-chromosome DNA but they were able to generate a

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mitochondrial DNA profile. However based on that

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set of evidence that they had they were still unable to identify

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that individual and link them to one of the 645

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men on board. So over the next five years they

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tried to undertake a number of other investigations

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so they had the mitochondrial DNA haplogroup

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so the navy has genealogists that are still trying to build out

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family trees of our sailors to try and see if they could

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you know track some maternal lineages to start testing.

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My colleague associate professor Jeremy Austin at the University of Adelaide

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he was the one that conducted the mitochondrial genome

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testing at the time but he went about performing forensic DNA phenotyping

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to try and determine the genetic ancestry and hair and eye color

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of the sailor and it was determined that the sailor was of European ancestry

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and had red hair and blue eyes which again could have been quite distinctive

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and in 2019 a breakthrough came when associate professor Austin was

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presenting on the unknown sailor case and all the work he had done

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at a genealogy group meeting he was invited along to give this

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presentation and at the time he divulged what the

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mitochondrial DNA haplogroup was and that could have been an

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interesting fact to a group of genealogists

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and so one of them went away and looked into their own family history

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and realised that they were aware of someone

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in their family tree which had this particular mitochondrial DNA haplogroup.

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Now this mitochondrial DNA haplogroup hadn't been seen in any other samples

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that associate professor Austin had tested so you know he

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uploaded it to the MPOP mitochondrial DNA database

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he had tried to test a number of relatives

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of unknown sailors from that from World War II and none of the relatives had

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this particular haplogroup so he felt like he had exhausted

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all options and so armed with that information the genealogists

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working for the navy were able to connect these relatives

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and he was provided with a maternal relative to test

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and they had the matching mitochondrial DNA profile at that point.

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For the Royal Australian navy one modality of DNA testing

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was not enough to move forward to the identification board to confirm that

25:04

identity so we were engaged in 2021 to try and generate

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a Y chromosome STR profile using the Y phyla plus kit that we had brought

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online and our specialised DNA extraction

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technique so we took that sample extracted it

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and we were able to recover you know a partial Y chromosome

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profile but a fairly decent Y chromosome

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STR profile in the meantime the navy had also located

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a living paternal relative of the individual they

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putatively thought thought it was and he lived in Australia so he provided

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a DNA reference sample and then we perform Y chromosome STR

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testing on his sample and then we were able to make

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that Y STR match so armed with the mitochondrial

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and the Y chromosome match you know maternal and paternal relatives from

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either side of the family tree two different DNA

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modalities from two different DNA testing laboratories in Australia

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in conjunction with some other circumstantial evidence that the navy

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obviously also had they put that identification forward to the

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identification board and that was accepted in 2022

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and we were invited along to a lovely ceremony at the stream

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war memorial to commemorate his death and he was then

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identified as able-seaman Thomas Willoughby Clark

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I guess a piece of Australian history in terms of

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being able to not only be able to restore the name of this fallen

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sailor but but for many he represents all 645 men on board

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that died that day so so I think this case just demonstrates

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how far advanced DNA technology has come

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so one of the cases that has impacted me the most is a recent case

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that we have been involved in and in this matter

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a set of remains was located in December 2022

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in the bottom of an apartment block in Brisbane in Queensland

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and it was determined that this individual had been there

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for quite a number of years they were wrapped up in a number of wrappings

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and they were deliberately hidden away from plain sight

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but it wasn't some years until these remains were inadvertently

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discovered now the forensic pathology and anthropology examination determined

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that these remains were likely those of a younger

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female there was some indication that it was

28:16

likely to be a homicide and we were engaged early on in that

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investigation to help the investigators establish as much

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information as they could about the identity of this individual

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so we firstly attempted our routine DNA testing

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methods and we confirmed that the individual was female

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we uploaded her DNA to the Queensland and the national DNA database

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but the jurisdiction saw no DNA matches

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so at that point we spoke with the investigators about what are the

29:01

tools we could employ to provide them with an investigative lead

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so our options at that point were forensic DNA phenotyping

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and then moving forward with the craning or facial reconstruction

29:16

all forensic investigative genetic genealogy

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so this was the second case that we had used our in-house newly validated and

29:29

accredited forensic investigative genetic genealogy tool

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on so we were really excited to employ it as well so

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when we uploaded the DNA we obtained a number of matches

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we engaged a genetic genealogist as part of our program

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and she works with us to perform all of the genealogy research

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so we provide her with the list of matches we

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obtain and then she goes about building out the family trees of those matches

30:07

she was able through her genealogy research

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and now we're in on a particular family group

30:18

that the investigators should be concentrating

30:22

their efforts on so me we met with the investigators and provided

30:27

those investigative leads and at that point

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within a few days of providing those leads

30:36

the investigators had identified a pewter-to-do mother and father

30:42

of our unknown female victim and that was only possible because

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we were collaborating with those investigators in real time across

30:54

those two or three days you know in terms of them

30:59

going and interviewing someone obtaining some new family information

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and then our genealogist you know incorporating that information directly

31:08

into the family tree us narrowing down on a new branch

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and it was amazing to be I guess a part of that investigation in real time

31:19

it was only successful I believe because of that

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collaboration occurring and where we landed with that was

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through their investigations the case investigators

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were able to figure out that the missing person's mother had not seen her

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for a number of years the father had not seen his daughter for a number of

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years

31:51

but his father had actually taken a direct consumer DNA test

31:56

previously unfortunately that DNA was sitting on a DNA database

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that we were not able to use for our genealogy

32:05

research so he consented to copy his DNA across

32:10

to jetmatch and we were able to then see his match to our unidentified

32:18

human remains and by all indications we were able to establish a

32:24

parent-child relationship between those two individuals

32:30

and then the final step in that process was us

32:33

performing the confirmatory DNA testing so because we'd already obtained

32:40

the autosomal STR profile from the set of remains before we embarked on

32:44

forensic

32:44

investigation genealogy both the mother and father provided a

32:48

reference DNA sample that underwent STR testing

32:52

and then the Queensland forensic lab were able to perform

32:56

that kinship analysis between the mother father and the child

33:00

and they were able to confirm that paternity trio

33:04

relationship they also didn't have any other biological children

33:09

and so collectively with all that information

33:12

the coroner accepted that identification

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and so her identity has now been disclosed as

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Tanya Lee Glover she hasn't been seen since 2010

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so my top two recommendations for a country considering establishing

33:35

a national missing persons program is firstly we have seen the value

33:41

in centralizing the capability so having a one-stop shop

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of contemporary forensic techniques databases and experts

33:52

all under the one roof and they are dedicated to the role

33:57

of unidentified and missing persons investigations

34:01

making sure you're leveraging your national databases that you do have

34:05

available you know a database is as only as good as the

34:08

data that's on it so as if I'm ensuring they are populated with all of the

34:12

available anti-mortem and the post-mortem data

34:16

for the most effective and efficient matching

34:20

and my second recommendation would be don't overlook the importance

34:26

of engaging and educating the families and the public

34:32

and doing that through a trauma-informed and culturally

34:36

aware lens because the success of our program was reliant

34:42

on obtaining that anti-mortem information whether it's about what a

34:47

missing person looks like you know their physical

34:51

appearance what was their medical history who was their dentist did they

34:55

have dental records as well as them providing us

35:00

with reference DNA material from whatever close living relatives we had

35:06

available at the time and then you know further than that

35:12

in terms of the general public now that we actually have tools like

35:16

forensic investigative genetic genealogy that actually rely

35:20

on the public sharing you know their genetic information

35:25

with law enforcement for these really specific investigative purposes

35:30

now we're seeing this you know this groundbreaking

35:34

technique resolving cases that we've never been able to resolve

35:39

before so so I think it's a combination of

35:42

the best forensic tools combined with ensuring all of your stakeholders

35:49

are coming on board this journey with you

35:53

I'd like to thank Thermo Fisher Scientific for the invitation to present

35:58

on our national DNA program for unidentified missing persons at HIDS

36:01

2024 we are so proud of the program that we have created here in Australia

36:07

and we really do hope that other countries might be able to learn from

36:11

some of our experiences if anyone has any questions

36:15

please reach out to me and thank you for listening and I hope you enjoy the

36:20

rest of his 24

36:24

[Music]

36:34

the Seac Studio Flex genetic analyzer has an expanded collection range

36:38

which means you can detect peak heights up to 60,000 RFUs before they go off

36:42

scale when you're analyzing a single source sample

36:45

or using a direct amplification workflow homozygous peaks are less likely to be

36:49

off scale with this extended range when used in combination with gene

36:53

mapper IDX version 1.7 which is an approved expert

36:56

system for data basing the first past success rate may increase

37:00

and that means fewer all-scale peaks and the pull up beneath them being called