National DNA Program for Unidentified and Missing Persons

Law enforcement considers a long-term missing person as a person who has been reported missing to police, their whereabouts have been unknown for more than three months and there are concerns for their safety and welfare.

Family members of reported long-term missing persons can participate in the Australian Federal Police (AFP) National DNA Program for Unidentified and Missing Persons (DNA Program) by completing the online Missing Person Details Form.

Family members who have never reported their missing family member to police can also participate in the DNA Program by completing the online Missing Person Details Form, however please note that the relevant State and Territory police agency will need to firstly determine if the case circumstances meet the definition of a long-term missing person prior to investigating further. Police are not able to investigate family tracing matters.

The aim of the Missing Person Details Form is to collect relevant details about each long-term missing person that are essential for the police and forensic investigation, but may not have been collected or provided previously.

The forensic information, records and samples provided by families will be shared with relevant police investigators and forensic scientists, and may be submitted to relevant national databases, to assist the DNA Program’s efforts to scientifically link Australia’s unidentified and missing persons cases.

Following submission of the completed form, a member of the relevant State and Territory police agency will be in contact to discuss the case circumstances, information provided and collection of associated forensic records and samples, if the missing person is determined to be a long-term missing person.

The AFP is encouraging families of long-term missing persons to provide as much information as is known to them, any relevant items or records they have at home and reference DNA samples for comparison to the information the DNA Program is able to discover from the forensic examination and testing of the unidentified human remains.

The AFP’s handling (i.e. collection, use, disclosure, storage, access, retention and disposal) of personal (both genetic and non-genetic) information to assist in identifying deceased and missing persons is done in accordance with the requirements under the Commonwealth Privacy Act 1988. Detailed information about the AFP’s handling of genetic information can be found under DNA testing information. More information about the AFP’s handling of personal information (including how to seek access to records or make a complaint) can be found in the AFP’s Privacy Policy or you can contact the AFP’s Privacy Officer (Privacy@afp.gov.au).

If you have any questions please contact the DNA Program via email at DNAProgram@afp.gov.au.

The Australian Federal Police (AFP) and the National DNA Program for Unidentified and Missing Persons aims to use deoxyribonucleic acid (DNA) testing, alongside other forensic techniques, to scientifically link unidentified human remains (UHR) and long-term missing persons (LTMP) cases. UHR are deceased persons whose identity is unknown. LTMP are persons missing for more than three months, and whose fate or whereabouts is unknown.

This section contains information for close genetic relatives of LTMP who are considering voluntarily providing reference DNA samples for the National DNA Program for Unidentified and Missing Persons. This information will ensure potential participants understand what will happen to their DNA from the point of collection through to a DNA match with UHR. Additionally, distant genetic relatives and members of the public (who may not know they are genetically related to a LTMP) can learn how their DNA could be used to assist the aims of the National DNA Program for Unidentified and Missing Persons.

The handling (i.e. collection, use, disclosure, storage, access, retention and disposal) of personal information, including DNA, from living persons to assist in identifying deceased and missing persons is done in accordance with the requirements under the Commonwealth Privacy Act 1988. More information about the AFP’s handling of personal information (including how to seek access to records or make a complaint) can be found in the AFP’s Privacy Policy or by contacting the AFP’s Privacy Officer (Privacy@afp.gov.au).

What is a reference DNA sample?

There are two sources of reference deoxyribonucleic acid (DNA) samples that may be collected for the investigation of unidentified and missing persons:

• A direct reference sample is a DNA sample collected from a missing person’s stored medical specimens (e.g. newborn screening card, blood sample, biopsy sample) or personal items (e.g. toothbrush, razor, hairbrush). The missing person’s DNA is extracted from these biological samples for comparison to unidentified human remains (UHR) DNA profiles for DNA matching purposes. Direct reference samples are typically obtained with the permission of the relative(s) of the missing person (where available). 
• A family reference sample is a DNA sample collected from suitable genetic relatives of the missing person. The DNA is typically obtained from a self-administered mouth swab that removes cells from the inner cheek. The relative’s DNA is extracted from these cells for comparison to UHR DNA profiles for DNA matching purposes. Family reference samples are always obtained with the informed consent of the relative(s) of the missing person volunteering the sample or their parent/guardian if under 18 years of age.

Is there a preference for a direct or family reference sample?

Direct and/or family reference samples should be collected and tested for every long-term missing person (LTMP). In general, direct reference samples are preferred for deoxyribonucleic acid (DNA) matching purposes over family reference samples (where available) because more simplified statistics can be applied, a higher probability of identity can be achieved and legislation permits them to be readily searched against unidentified human remains (UHR) DNA profiles on the national DNA database.

1. Direct reference samples:

Stored medical specimens are generally preferred over personal items (where available) as personal items often produce mixed DNA profiles, or there can be uncertainty as to ownership. Newborn screening cards are considered the ‘gold standard’ direct reference sample (where available); however, jurisdictions do have differing legislation prescribing their retention period and secondary uses. These samples can also be important in other scenarios, such as when an adopted child goes missing and no biological parents are known or available.

If personal items are the only direct reference sample available, it is recommended that multiple personal items are collected and tested to confirm a consistent DNA profile is being produced, or family reference samples are also collected and tested to confirm the direct reference sample is attributable to the missing person (where available). Importantly, for historical missing persons cases, neither medical specimens nor personal items may be available and the collection and testing of family reference samples will be essential.

2. Family reference samples:

Samples from at least two genetic relatives should be collected, with at least one relative having a direct genetic link to the missing person (where available) i.e. a first degree relative such as a parent, child or full sibling. Ideally, one sample should be collected from a close maternal relative (e.g. mother) and the other should be a close paternal relative (e.g. father) (where available).

In order of preference, the following combinations of genetic relatives are generally preferred (where available):

1. Identical twin
2. Both parents
3. Parent, child(ren) plus spouse (or parent-in-common)
4. Child(ren) plus spouse (or parent-in-common)
5. Parent and full sibling
6. Multiple full siblings

For historical missing persons cases, samples from distant maternal or paternal relatives may only be available i.e. a second degree relative such as a grandparent, grandchild, aunt/uncle, niece/nephew or half-sibling, and/or a third degree relative such as a great-grandparent, great-grandchild, great-aunt/uncle or first cousin. In these cases, family reference samples should be collected from all available genetic relatives.

How are family reference samples collected?

The process of collecting a family reference sample is outlined below, and will typically be facilitated by the family’s Case Officer, or the Missing Persons Unit in their state or territory:

1. A family member gives informed consent in the presence of an independent person to provide a voluntary reference deoxyribonucleic acid (DNA) sample for the purposes of assisting to identify a missing or deceased person. Note: A family member may withdraw consent to the forensic procedure being performed at any time.                   
2. A family member can obtain legal advice before deciding whether or not to consent to the forensic procedure.
3. A police officer will supervise the collection of a reference DNA sample using a non-intimate forensic procedure; this is usually in the form of a self-administered mouth swab.
4. The forensic procedure may be recorded by electronic (audio and/or visual) means.
5. A police officer will confirm and document the genetic relationship of the family member to the missing person.
6. After collection, the reference DNA sample will be packaged securely and transported to the forensic laboratory for DNA testing.

How are reference DNA samples used for DNA matching?

To identify unidentified human remains (UHR), the deoxyribonucleic acid (DNA) profile recovered from the UHR must be matched to a nominated DNA profile from the long-term missing person (LTMP) or their genetic relative(s). Alternatively, a secure, national law enforcement database of DNA profiles from missing persons, missing persons’ relatives and other relevant categories can be searched to find DNA matches.

If direct DNA searching is used, DNA from a direct reference sample may be a direct match with DNA from UHR. This is possible because an individual’s DNA is the same in every cell of the body. In the case of such a match, the identity of the UHR can be confirmed.

If familial/kinship DNA searching is used, DNA from a family reference sample may partially match with DNA from UHR. This is possible because genetic relatives share similar and predictable patterns in their DNA profiles. The closer the genetic relationship between the family reference sample and the UHR, the more DNA they share. In the case of such a partial match, the identity of UHR may be inferred. Additionally, other kinds of DNA testing can be performed to support this genetic relationship between the UHR and putative relative(s).

Are there different kinds of DNA?

There are different kinds of deoxyribonucleic acid (DNA) found in most cells of the body and they have different inheritance patterns. The presence (or absence) of these different kinds of DNA in unidentified human remains (UHR) will determine the type of DNA testing that is able to be performed, and therefore the family reference samples able to be used for DNA matching purposes.

1. Nuclear DNA

Nuclear DNA is located in a compartment of the cell called the nucleus. It includes DNA contained in both autosomal and sex chromosomes.

a. DNA inherited from autosomal chromosomes

There are 22 pairs of autosomal chromosomes. One chromosome of each pair is inherited from one biological parent and the other chromosome is inherited from the other biological parent. The DNA from the biological parents is shuffled in a process called recombination so that siblings may have different DNA segments on the chromosomes inherited from each biological parent.

Autosomal DNA can be used to infer both close and distant genetic relationships. Closely related genetic relatives, such as parents and children or full siblings, will share more and longer DNA segments than more distant genetic relatives, such as grandparents and grandchildren or cousins. Autosomal DNA can also be used to estimate the genetic ancestry and phenotype (i.e. physical appearance) of the UHR, including hair and eye colour.

b. DNA inherited from sex chromosomes

There are two sex chromosomes called X and Y. They are responsible for sex determination in humans. DNA contained in the X and Y chromosome can be used to infer genetic relationships in specific long-term missing persons (LTMP) cases.

i. X chromosomes

Females have two X chromosomes. One X chromosome is inherited from one biological parent and the other X chromosome is inherited from the other biological parent. As for autosomal DNA, the pair of X chromosomes undergo recombination so that females pass a different X chromosome to each of their offspring.

Males have one X chromosome, inherited from their biological mother only. They pass this X chromosome on to their female offspring whole, without recombination.

Because of this unique, sex-specific mode of inheritance, X chromosome DNA can be used to infer genetic relationships that can be difficult to establish from autosomal DNA alone, such as half-siblings who only have one biological parent in common.

ii. Y chromosomes

Males have one Y chromosome, inherited whole from their biological father, without recombination. Females do not have a Y chromosome.

Because of this unique, sex-specific mode of inheritance, Y chromosome DNA can be used to infer paternal lineage, such as lineage shared by a father and his son or brothers. Since all males in a paternal line are expected to have the same Y chromosome DNA, close or distant paternal relatives can provide suitable family reference samples for Y chromosome DNA testing.

2. Mitochondrial DNA

Mitochondrial DNA is located in a compartment of the cell called the mitochondrion. There are multiple mitochondria in each cell, each with multiple copies of mitochondrial DNA. This means that while there are only two copies of autosomal DNA in every cell, there are many more copies of mitochondrial DNA.

Mitochondrial DNA is inherited whole from biological mother to her offspring, without recombination. Because of this unique, sex-specific mode of inheritance, mitochondrial DNA can be used to infer maternal lineage, such as lineage shared by siblings, by a mother and her daughter, or by a mother and her son. Since all individuals in a maternal line are expected to have the same mitochondrial DNA, close or distant maternal relatives can provide suitable family reference samples for mitochondrial DNA testing.

What information can be obtained about an individual from their DNA?

There are a number of genetic targets that can be tested from deoxyribonucleic acid (DNA). DNA from unidentified human remains (UHR), direct reference samples and family reference samples will generally be tested in the order shown below, from least information revealed about them to most information, until the identity of UHR can be inferred.

The information relevant to unidentified and missing persons investigations may include:

• Biological sex
• Genetic relationships with other individuals
• Genetic ancestry (UHR only)
• Certain physical traits e.g. hair and eye colour (UHR only)

The types of genetic targets analysed to estimate this information include:

1. Short tandem repeats (STRs)

STRs are short, repetitive sequences of DNA that are highly variable amongst humans and can therefore be used to differentiate between them. They can be obtained from autosomal DNA, X chromosome DNA and Y chromosome DNA. There are no STRs in mitochondrial DNA..

The vast majority of DNA profiles generated in forensic laboratories target STRs. These profiles are typically used to match two DNA samples from the same source but can also be used to infer close genetic relationships. The number of STR targets in a DNA profile typically varies from 20 to 30. STR DNA profiles also contain one or more genetic targets to estimate biological sex.

2. Single nucleotide polymorphisms (SNPs)

SNPs are single differences in the DNA sequence. They can be obtained from autosomal DNA, X chromosome DNA, Y chromosome DNA and mitochondrial DNA. The number of targets in a SNP DNA profile can vary from 50 to one million.

Like STRs, SNPs can be used to match two DNA profiles from the same source. Autosomal SNPs can also be used to infer close genetic relationships (e.g. parent/child, sibling/sibling) and more distant genetic relationships as the number of SNPs analysed increases (e.g. third cousins or further). They can also be used to estimate an individual’s genetic ancestry and phenotype (i.e. physical appearance). Autosomal SNPs can be categorised according to their predictive function: 

• Identity informative SNPs
• Kinship informative SNPs
• Ancestry informative SNPs
• Phenotype informative SNPs

Sequencing of SNPs will be performed in-house by the National DNA Program for Unidentified and Missing Persons to estimate an individual’s identity, close and distant genetic relationships (including for the purpose of forensic investigative genetic genealogy), genetic ancestry, and hair and eye colour. X and Y chromosome SNPs can also be used to estimate biological sex.

3. Whole genomes

Whole genomes are the complete DNA sequence of the autosomal and sex chromosomes and mitochondria. By sequencing whole genomes, all genetic information about the UHR is obtained, including both STRs and SNPs in autosomal DNA, X chromosome DNA and Y chromosome DNA, and SNPs in mitochondrial DNA.

Sequencing of whole mitochondrial genomes will be performed in-house by the National DNA Program for Unidentified and Missing Persons to determine an individual’s mitochondrial SNP profile for DNA matching purposes.

Sequencing of whole autosomal and sex chromosomes, and mitochondrial genomes, will be performed by the overseas (USA-based) forensic genomics service provider, Othram, to extract the relevant genetic information from the autosomal chromosomes, X chromosome, Y chromosome and mitochondrial genome for the specific purpose of forensic investigative genetic genealogy.

What will happen to genetic information obtained from direct reference samples?

The deoxyribonucleic acid (DNA) profiles from direct reference samples will be subject to a number of genetic analyses to aid the process of identifying unidentified human remains (UHR). Initially, they will be used for direct DNA searching and matching using autosomal short tandem repeats (STRs). They may also be used for other types of complementary DNA testing using alternative genetic targets such as direct DNA searching and matching using Y chromosome STRs, mitochondrial single nucleotide polymorphisms (SNPs) and identity informative SNPs.

DNA profiles from direct reference samples can be compared to equivalent DNA profiles from UHR on a case-by-case basis or they may be submitted to external databases for direct DNA searching against a collection of known DNA profiles. Database searches will generally be performed in the order shown below, from least information revealed from the submitted DNA profile to most information, until the identity of the UHR can be inferred.

DNA profiles submitted to law enforcement DNA databases are not publicly available and are typically regularly searched and retained on the database until the LTMP has been located or identified.

1. National Criminal Investigation DNA Database (NCIDD)

The NCIDD is a national DNA database maintained by the Australian Criminal Intelligence Commission (ACIC) for conducting national searches of autosomal STR profiles to link UHR and long-term missing persons (LTMP). 

2. NCIDD-Integrated Forensic Analysis (NIFA)

The NIFA is a national DNA database maintained by the ACIC for conducting national searches of Y chromosome STR and mitochondrial SNP profiles to link UHR and LTMP.

3. International Criminal Police Organisation (INTERPOL) DNA Database

The INTERPOL DNA Database is an international DNA database maintained by INTERPOL for conducting international searches of autosomal STR profiles to link UHR and LTMP.

4. Other International Law Enforcement DNA Databases

National law enforcement DNA databases in other countries may also be used for conducting international searches of autosomal STR profiles, Y chromosome STR and mitochondrial SNP profiles to link UHR and relatives of LTMP.

What will happen to genetic information obtained from family reference samples?

The deoxyribonucleic acid (DNA) profiles from family reference samples will be subject to a number of genetic analyses to aid the process of identifying unidentified human remains (UHR). These include:

• Short range familial/kinship searching and matching to identify close genetic relatives using one or more genetic targets such as autosomal short tandem repeats (STRs), Y chromosome STRs and single nucleotide polymorphisms (SNPs), mitochondrial SNPs, X chromosome STRs and SNPs, and kinship informative SNPs
• Medium to long range familial/kinship searching and matching to identify more distant genetic relatives using kinship informative SNPs

DNA profiles from family reference samples can be compared to equivalent DNA profiles from UHR on a case-by-case basis or they may be submitted to external databases for familial/kinship searching against a collection of known DNA profiles. Where practicable, consent will be sought from genetic relatives who provide family reference samples to have their DNA profiles submitted to external databases, when direct reference samples fail to identify the UHR or are not available. They will generally be utilised in the order shown below, from least information revealed from the submitted DNA profile to most information, until the identity of the UHR can be inferred.

DNA profiles submitted to law enforcement DNA databases are not publicly available and are typically regularly searched and retained on the database until the long-term missing person (LTMP) has been located or identified, or the genetic relative who voluntarily provided the family reference sample requests that it be removed.

1. National Criminal Investigation DNA Database (NCIDD)-Integrated Forensic Analysis (NIFA)

The NIFA is a national DNA database maintained by the Australian Criminal Intelligence Commission (ACIC) for conducting national searches of autosomal STR, Y chromosome STR and mitochondrial SNP profiles to link UHR and relatives of LTMP.

2. International Criminal Police Organisation (INTERPOL) I-Familia Database

The INTERPOL I-Familia Database is an international DNA database maintained by INTERPOL for conducting international searches of autosomal STR, Y chromosome STR and mitochondrial SNP profiles to link UHR and relatives of LTMP.

3. Other International Law Enforcement DNA Databases

National law enforcement DNA databases in other countries may also be used for conducting international searches of autosomal STR, Y chromosome STR and mitochondrial SNP profiles to link UHR and relatives of LTMP.

What will happen to genetic information obtained from unidentified human remains?

The deoxyribonucleic acid (DNA) profiles from unidentified human remains (UHR) samples will be subject to a number of genetic analyses to aid the process of identifying them. These include:

• Direct DNA searching and matching using one or more genetic targets such as autosomal short tandem repeats (STRs), Y chromosome STRs and single nucleotide polymorphisms (SNPs), mitochondrial SNPs, X chromosome STRs and SNPs, and identity informative SNPs
• Short range familial/kinship searching and matching to identify close genetic relatives using one or more genetic targets such as autosomal STRs, Y chromosome STRs and SNPs, mitochondrial SNPs, X chromosome STRs and SNPs, and kinship informative SNPs
• Medium to long range familial/kinship searching and matching to identify more distant genetic relatives using kinship informative SNPs
• Estimation of genetic ancestry using ancestry informative SNPs
• Estimation of eye and hair colour using phenotype informative SNPs

DNA profiles from UHR can be compared to equivalent DNA profiles from direct or family reference samples on a case-by-case basis or they may be submitted to external databases for direct or familial/kinship searching against a collection of known DNA profiles. They will generally be utilised in the order shown below, from least information revealed from the DNA profile submitted to most information, until the identity of the UHR can be inferred.

DNA profiles submitted to law enforcement DNA databases are not publicly available and are typically regularly searched and retained on the database until the UHR has been identified. In contrast, online DNA databases may be publicly available. DNA profiles submitted to reference or population databases are typically submitted for one-off searches, not retained on the database and cannot be used to identify an individual but rather a population of individuals with the same maternal/paternal lineage, genetic ancestry or general pigmentation (database dependent). DNA profiles submitted to genetic genealogy databases are typically regularly searched and retained on the database until the UHR has been identified.

1. National Criminal Investigation DNA Database (NCIDD)

The NCIDD is a national DNA database maintained by the Australian Criminal Intelligence Commission (ACIC) for conducting national searches of autosomal STR profiles to link UHR and long-term missing persons (LTMP).

2. NCIDD-Integrated Forensic Analysis (NIFA)

The NIFA is a national DNA database maintained by the ACIC for conducting national searches of autosomal STR, Y chromosome STR and mitochondrial SNP profiles to link UHR and LTMP, or UHR and relatives of LTMP.

3. International Criminal Police Organisation (INTERPOL) DNA Database

The INTERPOL DNA Database is an international DNA database maintained by INTERPOL for conducting international searches of autosomal STR profiles to link UHR and LTMP.

4. INTERPOL I-Familia Database

The INTERPOL I-Familia Database is an international DNA database maintained by INTERPOL for conducting international searches of autosomal STR, Y chromosome STR and mitochondrial SNP profiles to link UHR and relatives of LTMP.

5. Other International Law Enforcement DNA Databases

National law enforcement DNA databases in other countries may also be used for conducting international searches of autosomal STR, Y chromosome STR and mitochondrial SNP profiles to link UHR and LTMP, or UHR and relatives of LTMP.

6. European DNA Profiling Group Mitochondrial DNA Population Database (EMPOP)

EMPOP is an international, online database maintained by the University of Innsbruck for conducting searches of mitochondrial SNP profiles from UHR to estimate the frequency of the mitochondrial SNP profile in the general population and maternal lineage.

7. Y-Chromosome STR Haplotype Reference Database (YHRD)

YHRD is an international, online database maintained by Charité Universitätsmedizin Berlin for conducting searches of Y chromosome STR profiles from UHR to estimate the frequency of the Y chromosome STR profile in the general population and paternal lineage.

8. Forensic Research/Reference on Genetics ‐ Knowledge Base (FROG‐kb)

FROG-kb is an international, online database maintained by Yale University for conducting searches of ancestry informative SNP profiles from UHR to estimate the genetic ancestry.

9. Snipper App Suite

Snipper App Suite is an international, online database maintained by the University of Santiago de Compostela for conducting searches of ancestry informative SNP profiles from UHR to estimate the genetic ancestry.

10. HIrisPlex

HIrisPlex is an international, online database maintained by Erasmus Medical Centre Rotterdam for conducting searches of phenotype informative SNP profiles from UHR to estimate the eye and hair colour.

11. Genetic Genealogy Databases

In the absence of direct and/or family reference samples, it may be necessary to find (close or distant) genetic relatives of UHR using forensic investigative genetic genealogy. This technique involves conducting international searches of autosomal SNP profiles from UHR using one or more international, online, law enforcement accessible genetic genealogy databases.

The two genetic genealogy databases commonly used by the National DNA Program for Unidentified and Missing Persons are:

•  GEDmatch PRO – this is a dedicated law enforcement portal maintained by Verogen (QIAGEN), a forensic genomics company based in California, USA. The portal is designed to support law enforcement with investigative comparisons to DNA profiles on GEDmatch, a public genetic genealogy database also maintained by Verogen, and separate these activities from standard genealogy research activities. DNA profiles available for searching and matching by the National DNA Program for Unidentified and Missing Persons through GEDmatch PRO include those from all individuals who have submitted their DNA profiles to GEDmatch from other consumer genomics service providers (e.g. AncestryDNA, 23andMe, MyHeritage, Living DNA, FamilyTreeDNA). This is because all GEDmatch DNA profiles can be used by any law enforcement agency across the world for identifying UHR. UHR DNA profiles submitted to GEDmatch PRO will not appear in match lists generated for any public user.
•  FamilyTreeDNA – this is a public genetic genealogy database maintained by Gene by Gene and Othram, consumer/forensic genomics companies based in Texas, USA. DNA profiles available for searching and matching by the National DNA Program for Unidentified and Missing Persons include those from individuals who have submitted their DNA to FamilyTreeDNA for consumer genomics testing or have submitted their DNA profiles to FamilyTreeDNA from other consumer genomics service providers (listed above) and who have given permission for their DNA profiles to be used by any law enforcement agency across the world. UHR DNA profiles submitted to FamilyTreeDNA will not appear in match lists generated for any public user.

What are the risks associated with an individual providing their DNA for DNA testing?

The more deoxyribonucleic acid (DNA) that is tested by the National DNA Program for Unidentified and Missing Persons and/or consumer/forensic genomics service providers, the greater the possibility that information not related to the purpose of identifying unidentified human remains (UHR) is potentially available. This may include personal, sensitive or health related information, such as:

• Medical conditions and risks
• Unknown or unexpected genetic relatives e.g. children, parents or siblings
• Other physical traits

This type of information will not be specifically targeted or analysed by the National DNA Program for Unidentified and Missing Persons, and any incidental information that is derived from DNA profiles produced by the National DNA Program for Unidentified and Missing Persons will not be disclosed to long-term missing persons (LTMP) (if located alive) or their genetic relatives.

Previously unknown, unexpected or unwanted personal, sensitive or health related information may become available to relatives of LTMP or members of the public that undertake consumer genomics testing and voluntarily elect to upload their consumer genomics DNA profile to genetic genealogy databases. For example, they may discover that a family member is not a genetic relative, is deceased, has been the victim of a crime or has a criminal history.

Consumer/forensic genomics service providers and private/public genetic genealogy databases have their own terms of service/use and privacy policies related to the collection, use and disclosure of genetic and other personal information. Individuals should read and understand the relevant terms and policies before participating in these services and submitting genetic information to these databases.

How will the Program secure an individual’s genetic information?

Direct and family reference samples, and any deoxyribonucleic acid (DNA) profiles derived from these samples, will be stored securely by the National DNA Program for Unidentified and Missing Persons at the Australian Federal Police (AFP). Only authorised AFP personnel will have access to the secure laboratories, offices and password-protected computers that house these samples and the resulting DNA profiles.

How will the Program protect an individual’s genetic privacy?

The Australian Federal Police (AFP) has implemented a number of steps to manage, minimise or eliminate any privacy impacts to individual’s participating in the National DNA Program for Unidentified and Missing Persons. Some of these privacy enhancing steps are detailed below.

Direct reference samples, family reference samples and unidentified human remains (UHR) samples are assigned a unique Forensic Exhibit Number (FEN) upon receipt at the National DNA Program for Unidentified and Missing Persons laboratory. This unique FEN, as well as unique FENs assigned to any sub-samples generated during the examination, are used throughout the deoxyribonucleic acid (DNA) testing process. This ensures the DNA profiles, presented in the form of an alphanumerical code, are de-identified through the use of a unique FEN prior to them being submitted to any national, international or genetic genealogy databases as appropriate. Furthermore, upon submission of UHR DNA profiles to genetic genealogy databases, the DNA data files are reconfigured and/or encrypted and unable to be accessed by other users.

The National DNA Program for Unidentified and Missing Persons will use a range of DNA techniques for the purpose of identifying UHR. The general principle followed is that of sequential unmasking of genetic information. The National DNA Program for Unidentified and Missing Persons will initially use routine DNA technologies (such as autosomal short tandem repeat (STR) and Y chromosome STR profiling), which target relatively small areas of the human genome and/or reveal relatively little information about the UHR, long-term missing person (LTMP) or LTMP relative(s). If those technologies are sufficient to make an identification, the DNA testing process will stop.

If, however, they are insufficient or deemed unsuitable due to inadequate DNA quality or quantity, the DNA testing process will continue and the National DNA Program for Unidentified and Missing Persons may use specialist DNA technologies (such as mitochondrial single nucleotide polymorphism (SNP) profiling, autosomal SNP profiling, ancestry and phenotype prediction and/or forensic investigative genetic genealogy), which target a larger part of the genome and/or potentially reveal more information about the UHR, LTMP or LTMP relative(s).

The AFP has service contracts and confidentiality agreements in place with all external service providers and consultants used by the National DNA Program for Unidentified and Missing Persons. This includes contracted forensic genomics service providers who perform the whole genome sequencing and contracted genetic genealogists who perform the genealogy research for the forensic investigative genetic genealogy process. The service contracts and confidentiality agreements place parameters around how the genetic and other personal information can be used and disclosed.

Can an individual request their genetic information from the Program?

Genetic information derived from deoxyribonucleic acid (DNA) profiles produced by the National DNA Program for Unidentified and Missing Persons will not be disclosed to long-term missing persons (LTMP) (if located alive) or their genetic relatives. More information about the Australian Federal Police’s (AFP’s) handling of personal information (including how to seek access to records or make a complaint) can be found in the AFP’s Privacy Policy or by contacting the AFP’s Privacy Officer (Privacy@afp.gov.au).

Can an individual withdraw consent for the use of their DNA by the Program at any time?

An individual can withdraw consent to the handling of their deoxyribonucleic acid (DNA) or genetic information by the National DNA Program for Unidentified and Missing Persons at any time by: 1) contacting their Case Officer, or the Missing Persons Unit in their state or territory, if they collected the reference DNA sample, and 2) the National DNA Program for Unidentified and Missing Persons (DNAProgram@afp.gov.au). An individual can withdraw consent to law enforcement searching and matching and/or remove their DNA data from genetic genealogy databases by adjusting their database account settings accordingly.

 

 

What is forensic investigative genetic genealogy?

Forensic investigative genetic genealogy (FIGG) combines advanced deoxyribonucleic acid (DNA) testing, searches of publicly available DNA databases and traditional genealogy research to provide investigative leads that can assist to identify unknown individuals. If FIGG is used to help identify human remains, DNA profiles recovered from the unidentified human remains (UHR) will be uploaded to specific genetic genealogy databases to be compared to the consumer genomics DNA profiles from consenting members of the public. If suitable genetic relatives are found, then the identity of the unknown individual may be able to be inferred by building out their family tree using the available genetic and genealogy information.

Further information about FIGG and how individuals can assist this process can be found in the following article: There are 750 unidentified human remains of Australia. Could your DNA help solve one of these cold cases? 

How does this process differ from standard DNA testing?

The types of deoxyribonucleic acid (DNA) technologies, databases and relatives used for standard DNA testing and forensic investigative genetic genealogy (FIGG) differ.

An autosomal single nucleotide polymorphism (SNP) profile is recovered from the unidentified human remains (UHR) using advanced sequencing technology which targets 10,000 to 1,000,000 sites across the genome. In contrast, standard DNA testing methods target 20 to 30 sites across the genome. The generation of this type of DNA profile is performed in-house by the National DNA Program for Unidentified and Missing Persons or performed by the overseas (USA-based) forensic genomics service provider, Othram.

Following this, the National DNA Program for Unidentified and Missing Persons will upload the DNA profile to one or more law enforcement accessible genetic genealogy databases to compare it to the consumer genomics DNA profiles of members of the public who have volunteered their DNA to be used in this way; namely GEDmatch (via GEDmatch PRO) and FamilyTreeDNA (if required). This allows the National DNA Program for Unidentified and Missing Persons to search a UHR DNA profile against millions of DNA profiles from all over the world, compared to far fewer DNA profiles using law enforcement DNA databases only.  

If a genetic relative (or relatives) is found, then a genetic genealogist contracted by the National DNA Program for Unidentified and Missing Person will commence genealogy research to build out the UHR’s family tree. This involves using both the available genetic information (i.e. the amount of shared DNA between the UHR and matched genetic relative is used to infer their genetic relationship) and non-genetic information such as public, historical and government records (e.g. family trees, birth/death/marriage records, newspaper archives, social media websites) to link the UHR with firstly their distant and then close genetic relatives. Unlike standard DNA testing, which uses short range familial/kinship searching and matching to identify first degree relatives (e.g. parents, children), FIGG can identify more distant genetic relatives, such as fifth degree relatives (e.g. second cousins) and beyond. Additionally, the genetic genealogist will collaborate with law enforcement who can use investigative techniques and non-public records to assist this process. The aim is for the genetic genealogist to find the most recent common ancestor(s) and then research the descendants until they narrow the search to a present-day family with a missing or unaccounted-for relative.

When will the Program use forensic investigative genetic genealogy?

If authorised by the relevant state or territory police/coronial agency, the National DNA Program for Unidentified and Missing Persons will use forensic investigative genetic genealogy (FIGG) for unidentified human remains (UHR) cases that have not been able to be resolved using standard forensic testing and national and international (as appropriate) law enforcement database searches.

The use of FIGG by the National DNA Program for Unidentified and Missing Persons is informed by risk assessment and treatment plans, privacy impact assessments, legal reviews, method validations, service contracts and best practice policies and procedures. In addition, the use of law enforcement accessible genetic genealogy databases is governed by their respective terms of service/use and privacy policies.

How can DNA from members of the public assist the Program to resolve cases using forensic investigative genetic genealogy?

In long-term missing persons cases where there are no known close genetic relatives available to provide one or more family reference samples for inclusion in the National DNA Program for Unidentified and Missing Persons, more distant relatives may voluntarily elect to upload their own consumer genomics deoxyribonucleic acid (DNA) profile to GEDmatch and FamilyTreeDNA, and make it available for searching and matching by law enforcement agencies such as the  Australian Federal Police (AFP). Similarly, members of the public who have a consumer genomics DNA profile may also voluntarily elect to upload their DNA profile to these two genetic genealogy databases and make it available for searching and matching by law enforcement agencies in the event they may be unknowingly related to unidentified human remains (UHR).

As more Australians (and a greater number and diversity of individuals across the world) upload their consumer genomics DNA profile to GEDmatch and FamilyTreeDNA, and consent to law enforcement searching and matching, the National DNA Program for Unidentified and Missing Persons will have more success using forensic investigative genetic genealogy (FIGG) to identify Australian UHR. These uploaded consumer genomics DNA profiles may produce previously unknown genetic links to unidentified and missing persons, or no genetic links at all; both of which can assist to guide the genealogy research and make the identification process more effective and efficient.

Not every law enforcement agency will have the access, resources or compatible DNA data files to search all law enforcement accessible genetic genealogy databases when undertaking FIGG, so it is beneficial if relatives and members of the public consider uploading their consumer genomics DNA profile to multiple databases accessible to law enforcement. For example, the National DNA Program for Unidentified and Missing Persons will routinely search UHR DNA profiles on GEDmatch (via GEDmatch PRO) first, followed by FamilyTreeDNA as required. Other law enforcement accessible genetic genealogy databases may be used on a case-by-case basis (e.g. DNASolves, DNA Justice). However, the National DNA Program for Unidentified and Missing Persons cannot search UHR DNA profiles on other genetic genealogy databases like AncestryDNA, 23andMe, MyHeritage and Living DNA, so relatives and members of the public will need to take steps to copy their DNA data to a law enforcement accessible database. For example, copying it from AncestryDNA to GEDmatch.

If uploading to GEDmatch, the relative or member of the public will be required to select one of the following relevant privacy options (this selection can be viewed or changed in the account settings at any time):

• “Opt In” means that the DNA profile will be available for matching comparisons with any other user, including any law enforcement agency across the world for the purposes of identifying UHR and identifying the perpetrators of violent crimes (e.g. homicides, sexual assaults). This includes use of the DNA profile by the National DNA Program for Unidentified and Missing Persons.
• “Opt Out” means that the DNA profile will be available for matching comparisons with any other user, including any law enforcement agency across the world for the purpose of identifying UHR but not for identifying the perpetrators of violent crimes (e.g. homicides, sexual assaults). This includes use of the DNA profile by the National DNA Program for Unidentified and Missing Persons.

If uploading to FamilyTreeDNA, the relative or member of the public must first opt in to or out of “Matching”. The DNA profile will only be available for matching comparisons with any other user, including law enforcement, if “Opt in to Matching” is selected. Once “Opt in to Matching” is selected, the relative or member of the public will be automatically opted in to“Investigative Genetic Genealogy Matching (IGGM)” (this selection can be viewed or changed in the account settings at any time). The DNA profile will only be able to be used by the National DNA Program for Unidentified and Missing Persons if “Opt in to IGGM” is selected but this means that the DNA profile will also be available to other law enforcement agencies across the world for the purposes of identifying UHR and identifying the perpetrators of violent crimes (e.g. homicides, sexual assaults).

Genetic relatives of UHR who have uploaded their consumer genomics DNA profile to GEDmatch and FamilyTreeDNA, and made it available for law enforcement searching and matching (at least for the purpose of identifying UHR), can be linked to a UHR DNA profile submitted by the National DNA Program for Unidentified and Missing Persons. When a genetic match occurs, the AFP, or their contracted genetic genealogist, will be able to see the name/alias, email address and biological sex of the user, the amount of shared DNA, any shared matches with other users and their family tree if provided by the user. The AFP, or their contracted genetic genealogist, will not be able to access the DNA data file or any other personal information not provided by the user.

The AFP, or their contracted genetic genealogist, can then construct a family tree using the matched genetic relatives and genealogy research to infer the identity of the UHR. Users can further assist this tree building process by downloading or exporting their family tree (i.e. GEDCOM file) from a genealogy research website (e.g. Ancestry) or family tree building software (e.g. Family Tree Maker) and uploading it to GEDmatch and FamilyTreeDNA (where available). GEDmatch also provides users with the option to manually enter the details of their parents and grandparents using the Mini-Family Tree Tool when submitting their consumer genomics DNA profile. Both of these actions will assist the AFP, or their contracted genetic genealogist, with constructing the UHR’s family tree (in the event an individual is a genetic match to the UHR).

It may or may not be possible for the genetic genealogist to identify the UHR’s relatives that have linked to the UHR’s DNA profile on the genetic genealogy databases. This will be dependent on what personal information is associated with their consumer genomics DNA profile on the genetic genealogy databases, what is publicly available or what records law enforcement can access. If law enforcement are able to contact specific relatives, or another relative of theirs, they may ask them if they would be willing to share family history information and/or genetic information to assist the identification process.

In some cases, law enforcement may ask if relatives are willing to take a consumer genomics DNA test and have their DNA data file uploaded to GEDmatch or FamilyTreeDNA and made available for law enforcement use. In other cases, if contacted relatives have previously undertaken a consumer genomics DNA test to research their own family history (and never copied their DNA data to a law enforcement accessible genetic genealogy database), law enforcement may ask them if they would be willing to upload their DNA data file to GEDmatch or FamilyTreeDNA and consent to law enforcement use. For example, a relative would download their DNA data file from their AncestryDNA account and upload it to their GEDmatch account. In both cases, this would allow their consumer genomics DNA profile to be compared to the UHR’s DNA profile and the DNA profiles of other relatives in the UHR’s family tree. Or in the latter stages of the genealogy research process, they may ask if relatives would be willing to provide a family reference sample for short range familial/kinship matching using standard DNA testing processes to confirm or refute the FIGG findings (i.e. confirm or refute the identity of the UHR).

IMPORTANT: An individual’s consumer genomics DNA profile will only be available for use by the National DNA Program for Unidentified and Missing Persons if it has been uploaded to GEDmatch (and either “Opt In” or “Opt Out” is selected) and/or FamilyTreeDNA (and “Opt in to IGGM” is selected). However, it also means that the same consumer genomics DNA profile will be available for searching and matching by other law enforcement agencies across the world for defined investigative purposes. Individuals should refer to the relevant company websites for further information, instructions, and terms and policies in relation to downloading DNA data files from testing service providers, uploading them to GEDmatch and FamilyTreeDNA, and opting in to or out of law enforcement searching and matching.

What is the process for downloading a consumer genomics DNA data file and uploading it to GEDmatch to enable law enforcement searching and matching?

Individuals can refer to the following instructions for how to download a DNA data file from AncestryDNA, 23andMe, MyHeritage, Living DNA or FamilyTreeDNA, upload it to GEDmatch and consent to law enforcement searching and matching: 

 

How many unidentified human remains and long-term missing persons are in Australia?

• It is estimated there are approximately 750 unidentified human remains (UHR) and 2500 long-term missing persons in Australia.
• These UHR are in the possession of State and Territory Police, mortuaries and forensic laboratories.
• The initial phase of the Program will involve the State and Territory Police conducting an audit of all active UHR and long-term missing persons cases in each jurisdiction. This will provide an accurate account of the numbers of UHR and long-term missing persons in Australia

What types of forensic testing will be used in the program?

• The UHR will be examined by a Forensic Anthropologist to develop a biological profile (i.e. age, sex, ancestry) and record trauma to assist with cause/manner of death determinations.
• If teeth are present, UHR will be examined by a Forensic Odontologist and the dental charts will be compared to any dental charts from long-term missing persons.
• If there are no dental matches, a bone sample from the UHR will proceed to DNA testing to generate DNA profile/s for comparison to DNA profile/s from the missing persons personal items or medical specimens, or their close biological relatives. If there are no state or national DNA matches, the DNA profiles can be searched internationally on the INTERPOL DNA database.
• If there are no international DNA matches, the UHR will be considered for specialist forensic testing to aid investigations. This testing can be useful to estimate the year of birth and death, residence history and hair and eye colour, reconstruct the face or locate distant relatives of the unknown individual.

Where will the forensic testing occur?

• The DNA testing will primarily be conducted at the AFP Forensic Facility in Majura, ACT.
• The Program will also engage other forensic specialists or laboratories in Australia and/or overseas to conduct specialised forensic testing as required.

Why has this testing never occured before?

• In some cases, UHR may never have been tested or tested only using the forensic techniques available at the time they were located. In other cases, UHR might have been tested with all available routine forensic techniques but still remain unidentified, so the application of new forensic techniques may provide investigative leads.
• Forensic techniques are constantly evolving and unresolved unidentified and missing persons cases should be reviewed as they become available to determine if they could aid the investigation. For example, modern DNA techniques have evolved to a point where we are able to successfully extract and profile DNA from old and degraded UHR samples. Previously, this may not have been the case because of a limited quantity and/or quality of DNA in these samples, but due to improvements in the sensitivity of the technology, a DNA profile is now often obtainable.
• This Program will use both routine and specialist forensic techniques to try to forensically examine and identify all UHR in Australia.
• By taking a national approach we will ensure that all UHR are subjected to the latest forensic techniques by forensic specialists with the required expertise.

Will this program be able to identify all UHR?

• The expectation is that not all UHR will be identified as a result of this National DNA Program.
• DNA testing success will be dependent on the condition of the UHR and whether DNA is able to be recovered from the more challenging samples, and the availability of reference DNA samples from every long-term missing person or suitable biological relatives.
• In the event routine DNA testing and matching is unsuccessful, other forensic techniques are being considered as part of this Program to provide investigative leads.

What support services are available to family members?

• The AFP’s National Missing Persons Coordination Centre works closely with support agencies such as the NSW Family and Friends of Missing Persons Unit (FFMPU) who provide counselling and support to family members of missing persons.
• Family advocacy networks such as Leave a Light On and the Missing Persons Advocacy Network (MPAN) also provide support for family members.
• State and Territory Police also utilise Family Liaison Officers who help family members navigate the investigation process and subsequent outcomes.

 

National DNA Program for Unidentified and Missing Persons fact sheets:

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Forensic Laboratories

• Radiocarbon Dating & Isotope Testing: ANU Radiocarbon Dating Laboratory
• Species Identification: Australian Centre for Wildlife Genomics
• Forensic Investigative Genetic Genealogy: Othram Inc.

Forensic Experts

• Forensic Odontology: Dr Selina Leow 
• Forensic Anthropology: Dr Denise Donlon, University of Sydney
• Forensic Geochemistry: Professor Stewart Fallon, Australian National University
• Forensic Genomics: Professor Dennis McNevin, University of Technology Sydney
• Forensic Investigative Genetic Genealogy: Louise Coakley

Academic Researchers & Students

• Ambiguous Loss: Associate Professor Sarah Wayland, University of New England
• Forensic Genomics: Associate Professor Jeremy Austin, University of Adelaide
• Forensic Genomics: PhD Candidate Jessica Watson, University of Technology Sydney

 

All media enquiries should be directed to the AFP National Media team via email at media@afp.gov.au or call on 02 5126 9297.

Media releases regarding the National DNA Program for Unidentified and Missing Persons will appear below as they become available.

• Australian-first forensic program to seek to name our country's unidentified human remains - 02/08/2020
• AFP DNA program to help identify unknown and missing Australians - 03/12/2021

• National Program using DNA to identify missing persons extended until end of 2023  - 04/08/2022

• National DNA Program partners with Othram to use forensic genetic genealogy for unsolved Australian cases - 26/10/2022

For more information on the Program please contact the NMPCC via email: missing@afp.gov.au or call 1800 000 634.