A DNA test says you’ve got Indigenous Australian ancestry. Now what?

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Families have secrets – and sometimes we don’t know our complete genetic histories.
from www.shutterstock.com

Elizabeth Watt, Deakin University; Emma Kowal, Deakin University, and Shaun Lehmann

Technologies for amplifying, sequencing and matching DNA have created new opportunities in genomic science. In this series When DNA Talks we look at the ethical and social implications.


Getting your “DNA done” is all the rage in the United States.

The sensationalism started with celebrities such as Jessica Alba, and Snoop Dog – and has now spread to hundreds of video bloggers disclosing their ancestry to drum rolls, exclamations, cheers and tears.

These tests claim to reveal deep ancestral origins, and many public users of this technology are black Americans seeking information about their African roots.

Snoop Dog sent his DNA to be tested – and did the maths faster than this TV host.

The uptake of direct-to-consumer genetic testing has been slower in Australia, and complicated by debates both beyond and within the Indigenous community – with some leaders calling on greater scrutiny to prevent “fakes” or “wannabes” calling themselves Indigenous.

One of the authors on this paper – Shaun Lehmann – was dropped into this debate inadvertently, after receiving the result of his own DNA test a few years ago.




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Professional and personal

Shaun had more professional reasons for doing the test than most: at the time he was lecturing in human genetic diversity at the Australian National University, and wanted to use his own genetic data as teaching tool.

He also had personal questions about his maternal grandmother, who had died when he was a small child. She had grown up without her mother, and said little about her background.

Because they are related through a direct maternal line, Shaun knew that it was his grandmother, and by extension mysterious great-grandmother, who gave him his mitochondrial genome.

Mitochondria are the tiny organelles that make energy in our cells. While the genome in the nucleus of our cells – our 23 pairs of chromosomes – is made up of a mix of our biological mother’s and father’s DNA, the relatively small mitochondrial genome is passed down through the egg and so reflects a single line of maternal ancestors.




Read more:
Explainer: what are mitochondria and how did we come to have them?


What Shaun didn’t know at the time, and what the test revealed, was that his particular mitochondrial genome fell into a haplogroup (a grouping of similar mitochondrial genomes) called “S2”, which has only been observed in Aboriginal Australians.

Interpreting genetic results

Being mitochondrial DNA, Shaun knew exactly where to look in his genealogy to find out more. Sure enough, he soon found records that his grandmother’s maternal family were Aboriginal people originally from the Albany area of Western Australia. With this information in hand, Shaun was able to trace his family tree to living Noongar relatives.

How mitochondrial DNA and nuclear DNA are passed on.
Wikimedia Commons, CC BY

Shaun’s discovery was certainly aided by the fact that he is a geneticist and could interpret his DNA test results. Most important, though, was that his Aboriginal ancestry happened to be in the direct maternal line.

Mitochondrial DNA is a reliable source of genetic information about Aboriginal ancestry, but it can’t help at all if your Aboriginal ancestors sit anywhere else in your family tree. That is, it’s only useful to track direct from mother to grandmother to great grandmother, and so on.




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Different kinds of DNA tests

Most of the “ethnic breakdown” DNA results being shared publicly by bloggers come from testing companies that compare their nuclear DNA with material from various ethnic groups. The tests focus on variations in specific regions of genes – known as single nucleotide polymorphisms, or SNPs.

To our knowledge, DNA testing companies do not currently have reliable reference SNP data from Indigenous Australians.

One company offering tests claiming to identify Indigenous Australians uses an approach that compares sequences in genes known as Short Tandem Repeats, or STRs. STR data from around the world is widely available in the forensic science literature because it is widely used in criminal investigations and paternity testing.




Read more:
Is your genome really your own? The public and forensic value of DNA


Ethical and scientific concerns have been raised about the use of STR data for commercial ancestry testing. For example, it is difficult to know how companies get their reference samples.

The case of American blogger Lisa Garrigues is illustrative. Garrigues did a test back in 2010 – it reportedly gave her second “Highest Resolution Global Population Match” as “European-Aboriginal”.

She was excited by this discovery, but also sceptical – her family has no known connections to the Southern Hemisphere. Lisa and her father subsequently did more thorough DNA testing, and it didn’t suggest Aboriginal ancestry.

In our personal correspondence with one of the genetic genealogists that assisted Lisa, Doug McDonald suggests these kind of inconsistencies are extremely common – STR markers are not designed for ancestry tests, but for matching individual people.

After the test: now what?

We need to be on the lookout for misinformation and unethical practices around genealogy testing. But even where the science is reliable, such as Shaun’s mitochondrial DNA test, the implications of identifying genetic Indigenous ancestry are far from clear.

Shaun was proud to learn about his ancestry, and has since got in contact with his relatives. He is also looking into his grandmother’s past to find out whether her separation from her mother was influenced by the policies that led to the Stolen Generations.

Existing research suggests there are many possible endings for journeys like Shaun’s. Bindi Bennett’s work highlights how young, light-skinned people who had no previous ties to the Aboriginal community can develop a strong Indigenous identity, even in the face of resistance from that community.




Read more:
Culture, not colour, is the heart of Aboriginal identity


But Fiona Noble’s 1996 research with Queenslanders who discovered their Aboriginal ancestry late in life suggests many of this demographic see their heritage as extremely important, but not all-defining.

They are more comfortable describing themselves as being “of Aboriginal descent” than “Aborginal”.

As Regina Ganter notes, the “in-between” status of these “half-steps” is not well-recognised contemporary policy and discourse – which tends to frame Aboriginality as an either/or identity.

Although Noble and Bennett’s research participants discovered their heritage through documents or family stories, not genetics, their work offers a window onto a future where more Australians discover Aboriginal ancestry through DNA tests.

Without a doubt, the inevitable collision of Aboriginal and Torres Strait Islander Australia with direct-to-consumer genetic testing will continue to raise challenging questions about ancestry and identity in the 21st century.


The Conversation


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Elizabeth Watt, Research Fellow, Deakin University; Emma Kowal, Professor of Anthropology, Deakin University, and Shaun Lehmann, PhD Student, Australian National University

This article was originally published on The Conversation. Read the original article.

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Is your genome really your own? The public and forensic value of DNA


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Females who remain unidentified at the time of burial are named ‘Jane Doe’.
Findagrave

Nathan Scudder, University of Canberra and Dennis McNevin, University of Technology Sydney

Technologies for amplifying, sequencing and matching DNA have created new opportunities in genomic science. In this series When DNA Talks we look at the ethical and social implications.


When Joseph DeAngelo was arrested in the United States last month over a series of 30-year-old murders and assaults, attention quickly focused on how the suspect was found.

In their search for the so-called “Golden State Killer”, police looked for DNA matches on a public genealogy database that people use to build family trees. This approach led police first to a close relative, and then to the suspect.




Read more:
How cops used a public genealogy database in the Golden State Killer case


Applying genealogical research techniques to forensic DNA analysis is a useful tool in solving cold cases.

However – as many who have traced their family tree would know – genealogy is not for the fainthearted. It is a complex and difficult process, prone to error and misinterpretation. Family trees have been described as “entangled meshes”.

Without expert knowledge, false assumptions can be made and investigative resources wasted. The technique also raises legal, ethical and policy challenges.

Identifying human remains

In 1981, a woman wearing a buckskin jacket was found murdered on a roadside in Ohio. The unidentified “Buckskin Girl” was buried in a “Jane Doe” grave. While investigators pursued various leads, DNA obtained from retained blood yielded no matches.

In 2018, the DNA Doe Project – a new charity applying a technique called “forensic genealogy” to unsolved missing person cases – agreed to work on the case.

Using crowdfunding, the volunteers collected donations to undertake “whole genome” sequencing. This generated enough genetic data, consistent with the markers used by online DNA providers, to allow upload to a public genealogy site.

The search returned a possible first cousin, once removed. By searching that individual’s shared family tree, a presumptive identification was made. The family tree included a comment about a relative: “Death – Unknown Missing – Presumed Dead”.

In a matter of hours, genealogists had provided a solid lead in a 37-year-old case, leading to the identification of the victim as Marcia King.

There are about 500 sets of unidentified human remains in Australia. Given the success of genealogists at the DNA Doe Project, applying this approach could help bring closure to families.




Read more:
Australia has 2,000 missing persons and 500 unidentified human remains – a dedicated lab could find matches


Where things can go wrong

Law enforcement use of forensic genealogical data has not always yielded such results.

In 1996, Angie Dodge was murdered in Idaho. DNA was recovered from the crime scene and, nearly 20 years later, the profile was searched against a genealogy database. A close match was returned and investigators identified that individual’s son, Michael Usry Jr., as a suspect.

However, Usry, who was coincidentally on vacation in Idaho around the time of the murder, later provided a DNA sample and was ruled out as the culprit. Usry says that it took a month to clear his name through DNA.

Search engines still return results linking him to the investigation. While almost all hits make clear that he was eliminated as a suspect, one asks: “Do you think Michael Usry Jr. could be involved in Angie’s murder?”

Will people be put off genetic testing?

The potential for online genetic databases to be used to help law enforcement is increasing – the DNA testing market is expected to more than triple by 2022, to A$388 million. In 2017, AncestryDNA – the largest provider – reportedly sold 1.5 million test kits in a single sales weekend alone.

But use of forensic genealogy also has the potential to undermine consumer trust in genetic testing and online genealogy.

Genetic providers may be more susceptible to consumer backlash about privacy concerns than social media companies such as Facebook, which has continued to grow in spite of recent concerns about its data storage practices. Many users do not find the need to engage with genetic providers on an ongoing basis, like they do with Facebook. After initial testing, users wishing to minimise privacy risks could potentially download their data and then delete their accounts, preventing the company from further using their data.




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Genetic providers are also limited in their ability to implement privacy safeguards, such as identity verification, due to the very nature of their products. Individuals may legitimately use the tool without knowing their true birth name or names of family members.

In each of these cases, investigators uploaded of some form of genetic data, of unknown origin, to a public database. This could amount to a breach of a provider’s terms and conditions, but there may be little the company can do to prevent such use.

We should proceed with caution

Forensic genealogy is just one example of the growing intelligence value of publicly accessible data. Police have also used social media to track suspects. A coroner in Idaho noted that:

Facebook is not something we thought we’d be using to find next of kin. We use it every single week.

This kind of law enforcement activity online has been litigated in the past.

In a 2014 US case, evidence was admitted despite police obtaining access to a social media account by inviting the defendant to accept a fake friend request. Here the defendant explicitly consented, but genealogical websites often promote the sharing of family tree and genetic information, without requiring consent to share with each new connection.

This followed a 2013 example where the US Drug Enforcement Administration allegedly created a fake social media account in the name of the owner of a seized mobile phone. In that case, the social media provider wrote demanding no other fake accounts be created on its platform.

Similar arguments may arise with forensic genealogy. Courts may need to balance the benefits to society of solving crime with whether the user has given implied consent, both for themselves and their relatives.

Privacy legislation may also kick in at the point where a profile is identified, or is reasonably identifiable. When that occurs, the forensic genealogist has created an online genetic profile for a third party, without their consent.

The use of forensic genealogy brings us closer to a point where it may be possible – given enough data and resources – to identify any genetic sample. Crowdsourcing and crowdfunding means this technique is available to all.

The ConversationAchieving an approach that is privacy compliant, balanced and cautious is essential to maintaining public trust and minimising potential harm. Otherwise individuals who, having parted with $99 and a small vial of saliva, may suddenly find themselves part of a criminal investigation.

Nathan Scudder, PhD Researcher, University of Canberra and Dennis McNevin, Professor, University of Technology Sydney

This article was originally published on The Conversation. Read the original article.

Five things to consider before ordering an online DNA test


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DNA testing has its risks, including that you don’t know who will own your genetic data.
Photo by Markus Spiske on Unsplash

Jane Tiller, Monash University and Paul Lacaze, Monash University

You might be intrigued by what your genes could tell you about your ancestry or the health risks hidden in your DNA. If so, you’re not alone.

Fascination with personal genetics is fuelling an explosion of online DNA testing. More than 12 million people have been tested – 7 million through ancestry.com alone. Amazon reported the 23andMe online DNA test kit as one of its top five best-selling items on Black Friday in 2017.

But while online genetic testing can be interesting and fun, it has risks. Here are five things to keep in mind if you’re considering spitting in a tube.

1. Understand the limits of what’s possible

Keep in mind the evidence behind claims a DNA testing company makes. Some companies list the science that backs up their claims, but many don’t.

DNA testing can be used to tell your ancestry and family relatedness quite accurately, but companies claiming to predict wine preferences or children’s soccer prowess from DNA are in the realm of fantasy.

There is also a lack of regulation on this issue to protect consumers.

Genetic testing products like 23andMe are exploding in popularity.
from shutterstock.com

2. Make sure you’re prepared for the information

Genetics can tell us many things, some of which we may not be prepared for. You may go in looking for information on your ancestry, but could find out about unexpected paternity. Or you might discover you’re at risk of certain diseases. Some of these have no cure, like Alzheimer’s disease, which could only leave you distressed.




Read more:
Genetic testing isn’t a crystal ball for your health


Some products can test for genetic changes in the BRCA genes that put you at risk of breast and ovarian cancers. Other online genetic interpretation tools can take raw data from ancestry DNA tests and, for a small payment, provide a wide range of disease risk estimates, many of which have been brought into question by the scientific community.

Think carefully about whether you really want to know all this information, and whether it’s valid, before you proceed.

3. Consider the medical follow-up you might need

If something serious is discovered in your genes, you might need the results to be professionally interpreted, or to have genetic counselling to come to terms with what you’ve learnt.

Some genetic information can be complex and difficult to interpret, and have medical implications for you and your family. Relying on the internet for interpretation is not advised.




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A little bit of knowledge: the perils of genetic tests for Alzheimer’s disease


Does the DNA testing company offer any counselling or medical services? If not, are you hoping your GP or genetics clinic will provide this? You might find GPs are not adequately trained to understand DNA results, and public genetics services have very long waiting lists. This means you might be left on tenterhooks with a potentially distressing result.

Before you spit into a tube, be prepared for what you might discover.
from shutterstock.com

4. Think how the results may affect your insurance

In Australia, private health insurance can’t be influenced by genetic test results. But life insurance companies can use genetic test results to discriminate against applicants, with little consumer protection. All genetic test results known to an applicant at the time of a life insurance application must be disclosed if requested, including internet-based test results.




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Australians can be denied life insurance based on genetic test results, and there is little protection


Once you have a result that indicates increased risk of disease, the life insurance company may use this against you (by increasing premiums, for instance), even if the scientific evidence isn’t solid. This applies to life, income protection, disability and even travel insurance.

5. Consider who will have access to your DNA and data

Some online genetic testing companies don’t comply with international guidelines on privacy, confidentiality and use of genetic data. Many online testing companies retain DNA samples indefinitely. Consumers can request samples be destroyed, but sometimes have difficulties with this.

Some online testing companies have been accused of selling access to databases of genetic information to third parties, potentially without the knowledge of donors. You might have to plough through the fine print to find out what you have consented to.




Read more:
Take an online DNA test and you could be revealing far more than you realise


The ConversationIn many ways, it is wonderful we now have access to our personal DNA code. However, as always, understanding the limitations and risks of fast-moving medical technology is very important.

Jane Tiller, Ethical, Legal & Social Adviser – Public Health Genomics, Monash University and Paul Lacaze, Head, Public Health Genomics Program, Monash University

This article was originally published on The Conversation. Read the original article.

Introduction to using DNA with your family history research

Family History Research

Traditional family history research involves looking for documents that name an ancestor – and hoping that everybody told the truth! By contrast, genetic tools that are now available to genealogists tell the truth but do not name ancestors – however they can be used to find relatives and to check the accuracy of our constructed family trees.

Why use DNA testing?

Birth certificate without father's name Birth certificate without father’s name

I have an ancestor who was adopted. When I eventually located his original birth certificate, no father was named. I developed a plausible theory about who his father might have been, but I could not find any record to prove or disprove my idea.

In another case my ancestor, John Etherington, a builder, sits at the top of one of my ancestral lines but I cannot find any documentary evidence that he was related to the John Etherington, also a builder, who lived two…

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