The link below is to an article that takes a look at the basics of how to start a family tree.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Achieving 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.
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.
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.
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.
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.
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.
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.
In 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.
The image of the typical family – mum, dad, and two kids – still permeates how we define and understand the family in contemporary Australia. This ideal saturates our screens and newsfeeds and was at the centre of the marriage equality debate, underscoring the pervasiveness of the nuclear family as the dominant family form in our consciousness.
However, this conceptualisation masks the true nature of Australian families, which has changed significantly in recent decades. As sociologists and demographers have long known, the Australian family is as diverse and different as the country’s terrain.
Drawing on data from the 2016 Census, we know there are more than 6 million families in Australia. This is a significant increase from the 5 million or so families counted at the 2011 Census.
Of these 6 million families, the most-common family form (as illustrated in Figure 1) was the couple family with no children (37.76%). The next-most-common was couple families with dependent children under the age of 15 (30.64%).
These proportions confirm that the nuclear family is no longer the most common family form in Australia. One-parent families with dependent children comprise around 8% of all Australian families.
Reflecting this move away from the traditional, nuclear family and the rise of more couple families without children, is the size of families. In 2016, around 30% of all families were two-person families. A further 27% were four-person families.
Most couple families with children in Australia are so-called “intact families” (89.94%), consisting of at least one one child who is the natural or adopted child of both partners in the couple.
However, families are becoming increasingly more “blended”, as couples dissolve (due to separation, divorce or death of a partner) and new families are formed.
Blended families are a small proportion of modern Australian family forms, accounting for just over 3.7% of all families. This includes families with two or more children, at least one of whom is the natural or adopted child of both partners and at least one other child who is the step-child of one of them.
A further 6.3% of families are step-families. Here, there is at least one resident step-child, but no child who is the natural or adopted child of both partners.
Grandparent-led families are also increasingly significant.
Grandparents already play a significant role in Australian family lives through the provision of informal child care, but there are now just over 60,000 grandparent families in Australia (which a significant increase from estimates in 2004, which found around 22,500 grandparent families). Of those, 53% of grandparent families are couple families with grandchildren and 47% are lone grandparent families.
The 2016 Census gathered information on same-sex couples. Compared with opposite-sex couples, these data show that family forms differ across sexual orientation.
Overall, around 15% of same-sex couples had children. Female same-sex couples were more likely to be in couple families with dependent children (20.67%) compared to male same-sex couples (3.10%), or opposite-sex couples (37.8%).
However, same-sex couples were still more likely to be in couple families with no children than were opposite-sex couples, and they were more likely to have smaller families. Of those, around 54% of male same-sex couples with children and 51% of female same-sex couples with children had one-child families. One-third of same-sex couples had two children.
In comparison, 36% of opposite sex-couples had one child, and 42% had two children.
What these data from the 2016 Census show is just some of the diversity within the Australian family. While the idealised nuclear family of the past is no more, this does not mean that the family as a social institution is in decline, or that families in contemporary Australia are at risk.
But it does mean families are changing. Our political leaders should reflect on this diversity to ensure social policies reflect these differences, so that all families are well supported.
I wasn’t going to have a break from posting blog posts over Christmas – New Year, but I have now decided that I will. I’m just too tired not to have a break. So at some point I’m going to go bush, throw up the tent and read some books (modern-style). I could really use the break right now. Still, from time to time I may post something I come across. This will be an extended period, from the time I post this update, through to the middle of January 2018. From that point I’ll get back to more regular posts.
So let me take this opportunity to wish you all a great Christmas and New Year, and enjoy the time with family and friends if you can. – now something for a parting laugh
The latest round of 2016 census data shows that the gig economy has taken hold in Australia, that there has been a huge surge in fitness, beauty and barista jobs; and that even though we’re working less, women still do the most housework.
But if we look past these headlines, the Census gives us a unique insight into the economic outcomes of the Aboriginal and Torres Strait Islander population, single parents, those entering the labour market and those coming to the end of their working life.
What we see is geographic divergence in Indigenous employment, declines in employment for single parents and the young, and the news is mixed for those entering retirement age.
Indigenous employment outcomes
One of the targets of the Closing the Gap strategy (which is slated to undergo a “sweeping overhaul”) is to “halve the gap in employment outcomes between Indigenous and non-Indigenous Australians within a decade (by 2018).”
Specifically, 44.1% of the adult Indigenous population was employed in 2016, compared to 44.2% in 2011. Over this period, employment rates for Indigenous women increased by 1.3%, but fell for Indigenous men by a similar amount.
For the total Australian population, there has been a decline in the employment-to-population ratio over the same period (61.4% to 60.2%). On this measure, there has been a small convergence between the Indigenous community and the total Australian populations. However, this will not lead to a closing or even a halving of the gap any time soon.
This national-level stagnation also hides considerable geographic variability, as shown in the map below.
In remote Australia, employment has fallen dramatically in most regions, with employment-to-population ratios plummeting by more than 15% in some regions. Much of this decline is likely attributable to the phasing out of the Community Development Employment Projects scheme and its replacement with a work-for-the-dole program whose participants are classified as unemployed.
Clearly, current employment policies are failing to create sufficient jobs for Indigenous people in remote Australia.
In more populous areas, Indigenous employment has grown steadily, especially in NSW where employment growth has been particularly rapid and has been accompanied by substantial population increase.
There are many good arguments for rethinking the Closing the Gap targets. However, they have had the benefit of highlighting policy failure and success. Hopefully a renewed focus on strengths and positive achievements does not diminish this accountability.
Single parent families
According to the Census, there was 959,543 single parent families on the night of the Census. Of these, around 54.2% were employed, 5.9% were unemployed and the remainder not in the labour force. By comparison, in 90.6% of couple families with children, at least one parent was employed in 2016.
Through time, there are slightly fewer single parent families where the parent is employed as a percentage of all single parent families (54.7% in 2011 compared to 54.2% in 2016).
That is, despite considerable focus on childcare, significant changes to welfare policy, and a number of active labour market policies and changes to employment support, a child in a single parent household is less likely to have that parent employed than five years ago.
From a policy perspective, we should be careful about forcing single parents to work when they have caring responsibilities that cannot be substituted. However, we have to do better in providing the support, training and employment environment where those single parents who do want to work are able to.
This includes ensuring childcare is sufficiently flexible, affordable and of high quality, trialling targeted interventions that boost skills and employability, and lessening the conditionality of parenting payments that reduce the incentives for recipients to find work.
New labour market entrants and those of retirement age
The current labour market is clearly working for some, but not others. Two groups for whom employment is particularly important are the relatively young and those at the end of their working lives.
For the young, early exposure to long periods of unemployment or underemployment can be very costly throughout their lives. Early periods of unemployment predict employment outcomes across their life.
For those nearing retirement age, maintaining an active and conscious engagement with the labour force (on their own terms) can support health outcomes and financial stability.
Focusing on the young, to start with, we can look at the 25-29 year old population. For the majority of this group, school and post-school education is mostly finished, and child care and other responsibilities are yet to have kicked in. Over the last five years, however, employment for this group has gone backwards.
Among the 25-29 year old group, the unemployment rate has increased from 5.9% to 7.1%, whereas the employment-to-population ratio has decreased from 78.4% to 77.1%.
The young adult labour market is not what it was pre-global financial crisis (the unemployment rate for 25-29 year olds in the 2006 Census was 5.6%), or at the peak of the mining boom. Clearly the macro-economy matters, but we also need to trial and adjust new types of active labour market support for young adults.
As a society, we are going to be increasingly reliant on those at the end of their working lives to support and mentor people entering the labour market, to maintain the tax base, and to support themselves as they prepare for retirement.
Here, the news is a bit more positive, though not completely so. It is true that the employment-to-population ratio has increased for 60-64 year olds (from 50.3% in 2011 to 53.8% in 2016). However, the unemployment rate for this group has also gone up (from 4.1% to 5.8%).
More people are working, but more people are actively looking for work. On balance, this is probably positive, but we also need to make sure that we are minimising the incidence and effects of age-related discrimination.
Delving into the employment statistics in the 2016 Census tells a more nuanced story than is evident from the monthly Labour Force Survey. In particular, remote Indigenous employment and outcomes for single parents show deeply concerning trends. Policy measures may need urgent consideration to increase employment opportunities and ameliorate poverty among these population groups.
**Correction and Editor’s note: This article was updated on 25 October to correct the first chart on Indigenous employment outcomes. The chart had previously misstated the figures on those employed, unemployed and the total labour force. The Conversation apologises for these editing errors and thanks reader John Blake for alerting us to them.
Nicholas Biddle, Associate Professor, ANU College of Arts and Social Sciences, Australian National University and Francis Markham, Research Fellow, College of Arts and Social Sciences, Australian National University