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When and why does a genetic variation become a result?

By Rachel Horton, William Macken, Robert Pitceathly and Anneke Lucassen.

We’ve each got four to five million ways in which our DNA differs from the ‘standard’ or ‘reference’ genetic code. When our genome is looked at in a test, all these differences are logged. Most won’t affect our health at all, they’re just natural genetic variation, though they could be used to infer stuff ranging from where our recent ancestors probably lived, to what colour our eyes are likely to be. A few of these differences will have a clear impact on health – for example, they might influence our risk of developing cancer, or might mean that if we have children there’s a chance they could have a genetic condition like cystic fibrosis. For lots of these differences, we’ve got very little idea what they mean, or we know that they have slightly different effects in different people.

In getting from four to five million genetic differences per person to a clinical result from a genomic test, a huge amount gets filtered out along the way. This filtering is often seen as a very technical process, a way by which you find ‘the needle in the haystack’ – but that presupposes that we know what results look like and the challenge is simply to find them. In our article we talk through a case where genomic testing done to investigate muscle weakness found something off-target and uncertain: a genetic variation that possibly predisposes to kidney cancer, uterine fibroids and skin lumps. The ‘needle’ we were looking for was an explanation for the patient’s muscle weakness; what we saw instead wasn’t really needle or hay.

The variation in question isn’t causing the muscle weakness that led to the patient having a genomic test, and quite possibly it doesn’t really predispose to kidney cancer at all. It’s completely normal to have stuff that looks at least hypothetically concerning in your genetic code – on average, each person has 54 variations previously reported as disease-causing (i.e. in theory, we’re more confident than we are for the variation discussed here that they might cause trouble) in their genome. In practice, some of these might lead to disease in them or their family, but most won’t. However, in this particular case, a detailed family history asking about kidney cancer, uterine fibroids and skin lumps, and a careful clinical examination focussing on skin, might shed light on the meaning of this particular genetic variation.

So we argue that the variation should be discussed with the patient who had the test – not because it is medical information, but because further work might lead to its becoming so. But we reflect on some of the seemingly technical aspects of genomic testing that led to this variant being considered as a potential result – for example, the choice to examine the gene that the variant is in when exploring the cause of the patient’s muscle weakness, and how the person reviewing the genomic data happened to have a general genetics background rather than an exclusive focus on muscle conditions.

Our article suggests that when appraising genomic information, we should not leap to ask ‘what should we do about this result?’ before we have first questioned why and whether it constitutes a result. Ethical debates around genomics often focus on whether to look for, or how to respond to, genomic ‘results’, but finding results within a person’s millions of genetic variations is not a matter of waving a metal detector around and waiting for needles that make it beep – needle/hay distinctions are often in the eye of the beholder and the choices that need to be made as to why and when genetic variations should be viewed as results deserve more attention.

 

Paper title: Discussion of off-target and tentative genomic findings may sometimes be necessary to allow evaluation of their clinical significance

Authors: Rachel Horton (1, 2, 3), William Macken (4, 5), Robert Pitceathly (4, 5), Anneke Lucassen (1, 2, 3)

Affiliations:

  1. Clinical Ethics, Law and Society (CELS), Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK
  2. Clinical Ethics, Law and Society (CELS), Primary Care Population Sciences and Medical Education, University of Southampton Faculty of Medicine, Southampton, UK
  3. Centre for Personalised Medicine, University of Oxford, Oxford, UK
  4. Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK
  5. NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK

Competing interests: None declared

Social media accounts of post authors: @rach_horton, @w_macken, @RobPitceathly, @annekeluc

The post When and why does a genetic variation become a result? appeared first on Journal of Medical Ethics blog.

Elon Musk, Mars, and bioethics: is sending astronauts into space ethical?

"Elon Musk, Mars, and bioethics: is ending astronauts into space ethical?" by Konrad Szocik on the OUP blog

Elon Musk, Mars, and bioethics: is sending astronauts into space ethical?

The recent crash of the largest-ever space rocket, Starship, developed by Elon Musk’s SpaceX company, has certainly somewhat disrupted optimism about the human mission to Mars that is being prepared for the next few years. It is worth raising the issue of the safety of future participants in long-term space missions, especially missions to Mars, on the background of this disaster. And it is not just about safety from disasters like the one that happened to Musk. Protection from the negative effects of prolonged flight in zero gravity, protection from cosmic radiation, as well as guaranteeing sufficiently high crew productivity over the course of a multi-year mission also play an important role.

Fortunately, no one was killed in the aforementioned crash, as it was a test rocket alone without a crew. However, past disasters in which astronauts died, such as the Space Shuttle Challenger and Space Shuttle Columbia disasters, remind us that it is the seemingly very small details that determine life and death. So far, 15 astronauts and 4 cosmonauts have died in space flights. 11 more have died during testing and training on Earth. It is worth mentioning that space flights are peacekeeping missions, not military operations. They are carried out relatively infrequently and by a relatively small number of people. 

It is also worth noting the upcoming longer and more complex human missions in the near future, such as the mission to Mars. The flight itself, which is expected to last several months, is quite a challenge, and disaster can happen both during takeoff on Earth, landing on Mars, and then on the way back to Earth. And then there are further risks that await astronauts in space. 

The first is exposure to galactic cosmic radiation and solar energetic particles events, especially during interplanetary flight, when the crew is no longer protected by both Earth’s magnetic field and a possible shelter on Mars. Protection from cosmic radiation for travel to Mars is a major challenge, and 100% effective protective measures are still lacking. Another challenge remains being in long-term zero-gravity conditions during the flight, followed by altered gravity on Mars. Bone loss and muscle atrophy are the main, but not only, negative effects of being in these states. Finally, it is impossible to ignore the importance of psychological factors related to stress, isolation, being in an enclosed small space, distance from Earth.

A human mission to Mars, which could take about three years, brings with it a new type of danger not known from the previous history of human space exploration. In addition to the aforementioned amplified impact of factors already known—namely microgravity, cosmic radiation, and isolation—entirely new risk factors are emerging. One of them is the impossibility of evacuating astronauts in need back to Earth, which is possible in missions carried out at the International Space Station. It seems that even the best-equipped and trained crew may not be able to guarantee adequate assistance to an injured or ill astronaut, which could lead to her death—assuming that care on Earth would guarantee her survival and recovery. Another problem is the delay in communication, which will reach tens of minutes between Earth and Mars. This situation will affect the degree of autonomy of the crew, but also their responsibility. Wrong decisions, made under conditions of uncertainty, can have not only negative consequences for health and life, but also for the entire mission.

“It is worth raising the question of the ethicality of the decision to send humans into such a dangerous environment.”

Thus, we can see that a future human mission to Mars will be very dangerous, both as a result of factors already known but intensified, as well as new risk factors. It is worth raising the question of the ethicality of the decision to send humans into such a dangerous environment. The ethical assessment will depend both on the effectiveness of available countermeasures against harmful factors in space and also on the desirability and justification for the space missions themselves. 

Military ethics and bioethics may provide some analogy here. In civilian ethics and bioethics, we do not accept a way of thinking and acting that would mandate the subordination of the welfare, rights, and health of the individual to the interests of the group. In military ethics, however, this way of thinking is accepted, formally in the name of the higher good. Thus, if the mission to Mars is a civilian mission, carried out on the basis of values inherent in civilian ethics and bioethics rather than military ethics, it may be difficult to justify exposing astronauts to serious risks of death, accident, and disease.

One alternative may be to significantly postpone the mission until breakthrough advances in space technology and medicine can eliminate or significantly reduce the aforementioned risk factors. Another alternative may be to try to improve astronauts through biomedical human enhancements. Just as in the army there are known methods of improving the performance of soldiers through pharmacological means, analogous methods could be applied to future participants in a mission to Mars. Perhaps more radical, and thus controversial, methods such as gene editing would be effective, assuming that gene editing of selected genes can enhance resistance to selected risk factors in space. 

But the idea of genetically modifying astronauts, otherwise quite commonsensical, given also the cost of such a mission, as well as the fact that future astronauts sent to Mars would likely be considered representative of the great effort of all humanity, raises questions about the justification for such a mission. What do the organizers of a mission to Mars expect to achieve? Among the goals traditionally mentioned are the scientific merits of such a mission, followed by possible commercial applications for the future. Philosophers, as well as researchers of global and existential catastrophes, often discuss the concept of space refuge, in which the salvation of the human species in the event of a global catastrophe on Earth would be possible only by settling somewhere beyond Earth. However, it seems that the real goals in our non-ideal society will be political and military.

OUPblog - Academic insights for the thinking world.

Should we routinely reinterpret genomic results?

By Gabriel Watts and Ainsley J. Newson.

Data obtained from genomic sequencing has an interesting quality. Unlike most other kinds of health results, the stored information remains accurate over time, because it reflects a largely stable property of our bodies: our DNA.

Of course, during this time, sequencing methods themselves are likely to have advanced further such that new sequence data will be of better quality. Much in the same way that the resolution on a phone camera picture from 2013 is not as good as one from today – indeed, we are already seeing changes to high-throughput DNA sequencing quality with the advent of long-read sequencing. But still, that present day sequence data can retain diagnostic validity for as long as a decade is already exceptional. In our paper in the Journal of Medical Ethics, we refer to this property as the ‘diagnostic durability’ of genomic data.

Another important aspect of genomic information is that while the sequencing data itself is stable, the interpretation of that data can be quite dynamic, and may change within a short space of time. This means a result delivered to a patient at one point in time may have a different interpretation later on.

For patients who receive results such as ‘no pathogenic (disease-causing) variant identified’ or who are told they have a ‘variant of uncertain significance (VUS)’, the changing status of this result can be significant. If a finding is re-graded, it may open up new treatment options that they couldn’t previously access. A result can also go the other way, to benign from VUS.

These attributes of genomic data have important implications for the responsible implementation of genomic testing in health. One question is: should laboratories or clinicians routinely go back to the data they hold for patients with null or VUS results, to see if a new interpretation is possible? We consider this question in our paper.

An immediate issue here is whether routine reanalysis is even feasible. On the one hand, doing this is known to increase the ‘diagnostic yield’ of genomic testing: more patients receive definitive information that can inform their treatment. Yet on the other hand, until automation of reanalysis is in place (and this is coming) this process is time- and resource-intensive, and likely beyond the majority of health systems to provide at large scale.

One way around this limitation is to only provide reanalysis to those who ask for it. But this is likely to limit this benefit to those who know to do it, or to ask for it, and so raises equity concerns.

One part of reanalysis, however, is reinterpretation of variant classifications. This process can achieve increased diagnostic yields in a comparable way to a detailed individual reanalysis. But it is more sustainable because it occurs at the level of classes of variant rather than individual patient DNA sequences. As such, routine reinterpretation of variant classifications may be more feasible at scale, at least in the short to medium term.

Given this, do laboratories or clinicians have an obligation to undertake routine reinterpretation of variant classifications as a part of the responsible implementation of genomic health care?

In our paper we argue against the existence of any general duty to reinterpret genomic variant classifications. Yet, we contend that a restricted duty to reinterpret ought to be recognised.

Our initial motivation was drawn from the intuitive pull of the position we argue against. It is undoubtedly ideal that diagnostic laboratories routinely reinterpret all their variant classifications, in order to keep up with the rapid changes in our understanding of genomic testing results.

It is a different question, however, whether there is a moral duty to do so. At issue here is whether the potential benefits of routinely reinterpreting genomic variant classifications is likely to lead to a valid diagnosis for any particular patient. If not, then it is arguably better to invest resources in preparing patients for the high likelihood that genomic testing will produce results that are uncertain, and that are statistically unlikely to become clinically relevant in the future, than to hold out of hope of a statistically unlikely diagnosis through regular variant reinterpretation.

To be clear, we are not arguing that we should not aim to develop diagnostic systems on which all genomic variant classifications are routinely reinterpreted. For instance, developing diagnostic systems that automate the various elements of reanalysis – including reinterpretation of variants classifications, but also the re-prioritisation of previously unanalysed sections of a patient’s genome, as well as the re-annotation of sequence data – is a morally laudable aim.

What we do argue is that the best healthcare systems need to be developed within the limits of what is currently or imminently feasible. As automation expands, the obligation to reanalyse may become actual. Our point is that we best not confuse this with an obligation arising from certain peculiar properties of genomic sequencing data. For any obligations here only stretch so far, and better warrant investment in patient counselling concerning the inherent uncertainty of genomic testing than investment in the routine reinterpretation of all variant classifications.

 

Paper title: Is there a duty to routinely reinterpret genomic variant classifications?

Authors: Gabriel Watts, Ainsley J Newson

Affiliations: Sydney Health Ethics, University of Sydney – Australian Genomics

Competing interests: None declared

The post Should we routinely reinterpret genomic results? appeared first on Journal of Medical Ethics blog.

Ryan Phelan

Ryan Phelan

Doors are at 6pm; drinks & small plates are available to purchase. Club Fugazi will remain open and serving drinks after the talk, for further conversation. You can also tune in to the livestream on this page and our YouTube channel.

How can we turn the tide on species loss and help biodiversity and bioabundance flourish for millennia to come?

Ryan Phelan is Executive Director of Revive & Restore; the leading wildlife conservation organization promoting the incorporation of biotechnologies into standard conservation practice. Phelan will share the new Genetic Rescue Toolkit for conservation – a suite of biotechnology tools and conservation applications that offer hope and a path to recovery for threatened species. In this talk, Phelan will present examples of the toolkit in action, including corals that better withstand rising ocean temperatures, trees that withstand a fungal blight, and the genetic rescue of the black-footed ferret, once thought to be extinct.

Revive & Restore brings biotechnologies to conservation in responsible ways; from engaging local communities where ecological restorations are underway, to connecting stakeholders in disciplines like biotech, bioethics, conservation organizations and government agencies. Together, they are forging new paths to bioabundance in our changing world.

Ryan Phelan will be joined by forecaster and Long Now Board Member Paul Saffo for the Q&A to discuss long-term outcomes and the Intended Consequences framing used by Revive & Restore.

How DNA is Helping Black Brazilians Uncover Their Roots

How DNA is Helping Black Brazilians Uncover Their Roots

In December 02019, a group of scientists from the University of São Paulo, in partnership with diagnostic medicine company Dasa and cloud computing platform Google Cloud, launched DNA do Brasil (DNA of Brazil), a project that aims to trace the country's genetic roots through mass genetic sequencing. Among the project’s main objectives is to create a genomic database of the Brazilian population that can help in the production of medicines and in the research of complex diseases. Led by geneticist Lygia da Veiga Pereira, the project has already analyzed thousands of genomes and sequenced 2,100 with funds to reach 4,400. Their ambitions are more expansive: they aim to sequence and analyze up to 200,000 genomes.

How DNA is Helping Black Brazilians Uncover Their Roots
The DNA do Brasil project aims to sequence a wealth of DNA from Brazilian people, with a focus on historically underrepresented groups like Black and Indigenous Brazilians.

About 80% of the sequenced genomes in the world come from white people of European or North American origin, notes Pereira. In practice, this means that studies that rely on pre-existing genetic databases may not fully capture the world’s genetic diversity. In turn, the diagnostic tests derived from these studies — and future therapies targeting specific genes — may not be as effective on all population groups. The long-standing racial imbalances in access to medical treatment are thus recapitulated into future generations. In very racially-mixed societies like Brazil, where 43% of the population identifies as mixed-race, these imbalances add even more complexity to an already unequal situation.

The genomes analyzed by the project so far reveal a disproportionate European contribution to certain portions of Brazil’s gene pool when compared to the indigenous and African contribution — describing, in effect, a history of violence in the formation of the Brazilian nation. During the colonization of Brazil, starting in 01500, Portuguese imperial governments used forced labor — first of Brazil’s indigenous people violently captured by Portuguese bandeirantes, and then of African slaves imported from across the Atlantic — to build an economy based around sugar plantations and precious metal mines with harsh, often-deadly conditions.

How DNA is Helping Black Brazilians Uncover Their Roots
O jantar. Passatempos depois do jantar, an 01829 painting by Jean-Baptiste Debret depicting domestic life in Brazil, with Black slaves waiting on white masters.

Even after the decline of these industries, slave labor was central to Brazilian domestic life, and Brazilian-born slaves and freed Black people, often the product of a white father and an enslaved Black mother, became an increasing part of Brazilian society. To Tábita Hünemeier, biologist and geneticist at the Biosciences Institute of the University of São Paulo who’s also a member of the DNA do Brasil research group, “the scars of Brazil’s colonization process are too deep to be forgotten” and are indeed embedded in the population’s DNA.

A few studies focused on the US have used 23andMe data to trace Black and Latino ancestry through genomic analysis. DNA do Brasil, however, is the most comprehensive study of its kind in Brazil and all of Latin America. Some of its unique findings help shed light on Brazil’s past. Yet the most powerful impacts of the study may be those that look towards the future, using science and technology to challenge established mainstream narratives and bring focus to the peripheries and those excluded throughout history. By understanding the past, and in this case the collective past of an entire nation, it’s possible to formulate policies to improve the lives of citizens, particularly minorities, and create a better future for all.

“Deep down, this myth still guides us.”

DNA do Brasil is more than a simple research initiative aimed at creating a Brazilian database of genomes as an idle scientific concern; it is a thread through which many Brazilians will learn more about the country's violent past and the complicated process of forming their identities. Through the genetic insights of the project, the Brazilian public may finally be able to grapple with a history of romanticization of the immense violence and brutality of 400 years of slavery, genocide of entire indigenous populations, rape, and inequality.

How DNA is Helping Black Brazilians Uncover Their Roots
Brazil, as depicted by the Miller Atlas of 01519 

A persistent myth in the formation of Brazilian identity is the idea of 'racial democracy': that is, that Blacks, indigenous peoples, and white Europeans have mixed freely since the early 01530s, when Brazil was first divided into colonial ‘captaincies’ by the Portuguese crown. This myth has been disputed by sociologists, historians, and anthropologists for many years. Now, DNA do Brasil is mounting a distinct challenge to the country’s civic mythmaking, showing with scientific precision that the formation of Brazil was much more violent and complicated.

This challenge involves revisiting some of the cruelest episodes in the history of Brazilian colonization and slavery to expose the racial machinery behind them. As an example, Hilário Ferreira, a social scientist and historian at Centro Universitário Ateneu, explains that “in old newspapers it was possible to find advertisements offering rewards to those returning white slaves who ran away. Slavery was related to the womb, so if the child was white, it meant that the slave owner’s relationship with the slave was most of the times due to rape.”

These pieces of historical evidence are supported by tell-tale genetic markers indicating an imbalance in the ancestry of many Brazilians. For DNA do Brasil, the researchers analyzed both the ancestry of mitochondrial DNA (which tracks maternal inheritance) and Y chromosome (which does the same for paternal inheritance) and found that 75% of the paternal Y chromosome inheritance is of European and white origin, while only 14% of mitochondrial DNA, and thus maternal inheritance, is of European origin. Further, 36% of inherited mitochondrial DNA is African and 34% indigenous. Only 1% of the Y chromosome ancestry comes from indigenous men.

Put another way, European men occupy an outsize share of the Brazilian gene pool relative to both European women and Black/Indigenous men. While the presence of genetic markers connected to European heritage within the broader mixed Brazilian population can be explained through a natural process of intermarriage and other peaceful racial mixing, the greater proportion of European Y-chromosomal markers in the overall pool relative to the presence of European mitochondrial DNA markers indicates what the historical record already shows: Brazilian slavery was a system of rampant sexual exploitation and violence.

How DNA is Helping Black Brazilians Uncover Their Roots
The first Brazilian Census of 01872 categorized people along a rigid racial divide – white or Black – despite the prevalence of mixed race people in Brazil from its inception as a colony.

“Although the Black movements have always confronted the fantasy of racial democracy and denounced racism in Brazil, this narrative is still very strong and present among us,” says Andréa Franco, a PhD candidate in sociology at the Federal University of Paraíba who studies racial relations and Black feminist thought. “This is why the results of the survey were received with such surprise by so many sectors of society, even among people who recognize Brazilian racism. Because, deep down, this myth still guides us.”

Franco, a self-described "Black woman born into a family made up of interracial relations," is one of several Black researchers and activists interviewed for this story who were not surprised by the study’s findings. “The Brazilian population has gone through an intense process of miscegenation,” she says. “And this process has occurred in an asymmetrical way.”

How DNA is Helping Black Brazilians Uncover Their Roots
A Redenção de Cam (Redemption of Ham), an 01895 painting by Modesto Brocos, allegorically depicts racial mixing in Brazil through multiple generations, supporting the myth of Brazilian racial equity.

Over the course of Portuguese colonization of Brazil and the subsequent oppressive regimes, both Portuguese and Brazilian, that have ruled over the country, millions of indigenous people have been killed in massacres that lasted from the 01500s into the 01960s and the present day, with many ethnic groups disappearing completely. Today, there are just over 800,000 of them left in a country of more than 200 million, many living in reservations, others in cities, constantly struggling to preserve their customs and traditions.

Part of the colonization process also took place through the slave trade. Millions of Black people were brought from Africa for centuries and enslaved until complete abolition, signed into law on 13 May 01888. The scars of this period remain extremely current, both in Brazilian social and economic inequality — with a majority of Blacks still subjected to violence, prejudice and exclusion — and, as the study points out, indicated in the population's DNA.

After the abolition of slavery until the 01940s, invited thousands of immigrants exclusively from Europe to settle in the country. Decree 528, passed by the Brazilian Republic’s Provisional Government on June 28, 01890, just two years after the final abolition of slavery, legalized and encouraged immigration from all peoples “exceptuados os indigenas da Asia, ou da Africa” [except those indigenous to Asia or to Africa.] In effect, this law implemented in Brazil an official policy of whitening the population. This demographic white-washing of the population via immigration restrictions was coupled with a more tacit whitewashing of Brazilian history. “Brazil had a policy of forgetting there was slavery, even if 70% of the population descended from these individuals,” Hünemeier says.

Piecing Together A Fragmented History

A few years ago, with the popularization of home DNA tests, more people were able to trace their genetic ancestry and learn more about their past. Some results seemed so surprising that they caught the media’s attention, as was the case with the singer Neguinho da Beija Flor, whose Black identity was core to his stage name— Neguinho literally means “little Black.” Yet Neguinho discovered in 02007 that 67.1% of his genes are of European origin and only 31.5% from Africa.

In 02013, data scientist Marco Gomes wrote a long post on his blog about his experience with the 23andMe service. When I contacted him to discuss DNA do Brasil’s findings, he immediately made it clear that he was not surprised by the results of the research. “Black women, the victims of violence, have been complaining about it for many centuries,” he wrote. Yet for many Brazilians, these testimonies were not enough — it was necessary “to wait for genetic studies: 100, 150, 300 years of evolution of science” in order to verify a long chain of history.

The research relates to Gomes' own life: His mother is white, and his father is Black. He said that "it is even difficult to comment" on the process of erasing Black people and the historical violence they have suffered.

The consequences of the attempt at erasure and whitewashing of Brazil’s history and population are still with us today. Franco, the PhD candidate in sociology at the Federal University of Paraíba, tells me that when she sought out the origins of her family, she found plenty of material on the European-white side, but only barriers and uncertainties when researching her Black roots.

Franco explains that she has a white grandmother who came from Portugal to Brazil in the beginning of the 20th century. It was relatively easy to find information about this side of her family. But “as for my Black origins, I need to access their stories in another way. There are no records, no papers. There is memory, loose threads that we sew in conversations with the elders.”

She recalls that “one of my maternal great-grandfathers, it is said, was the son of a landowner and slave owner of a well-known, traditional and important family from Minas Gerais, who had a son with a Black woman (probably a slave woman) and who gave him his surname.”

Franco says that “the desire to know my ancestry by DNA was replaced by the curiosity to gradually reconstruct this story.” She already knows the name of the slave owner, and that “in the middle of the 19th century he had a white wife, 200 slaves from the regions that today are Angola and the Democratic Republic of Congo, and that among these slaves inventoried, only one was registered by name.”

Emilio Moreno, a journalist from the state of Ceará, says that while his Black friends were not surprised by the DNA do Brasil findings, many white journalists were. Moreno’s own heritage is involved in this complex debate.

"Until recently I did not see myself completely Black, because I am lighter-skinned. Only by reading, I was able to understand myself better".

Moreno tells me that he comes from a poor family from the countryside of Ceará and that "we have little record of our origins, we were a farming family and were extremely poor.”

How DNA is Helping Black Brazilians Uncover Their Roots
How DNA is Helping Black Brazilians Uncover Their Roots
The mid-nineteenth century photographs of Alberto Henschel display the diversity of Brazil's Black and mixed-race communities.

Moreno notes, much as Franco did, that “there is no way to investigate, because it is very common in Brazil that people of Black origin cannot make the connections, unlike those who have a family that comes from Europe, who know the whole origin of their family; we cannot do this research.” The disregard paid to Black Brazilians for centuries is reflected back in their absence from the archives.

The potential result of the research, explains Anna Claudia Evangelista, a medical geneticist and Black woman, "is yet another confirmation – this time through the molecular tool – of the history and the way in which Brazilian colonization took place."

In her medical practice, working in an oncogenetics clinic, "it is very important to ask about family history and ancestry. It is not uncommon for patients to say that their grandmother or great-grandmother, who was an enslaved Black or indigenous, was 'lassoed' by an immigrant of European origin."

Journalist Carlos Alberto Ferreira is one of those who has in his family stories of women who were "lassoed,” and his mother “lived with a grandfather who was enslaved and may have been begotten of a rape.”

He explains that he did two DNA tests (Genera and My Heritage) and "both served to prove several old stories in my family.”

His family story is one quite common in Brazil. He grew up in a very multiracial family, with white, lighter skinned Black and dark skinned Black people all intermixed. “I remember people not believing me and my cousins belonged to the same family because I was Black and some of them white.”

He continues by saying that “I can clearly see that the lighter-skinned part of my family has had access to better education, lives in better neighborhoods and has progressed better in life. On the other hand, the part of the family with darker skin have not completed higher education, live in more peripheral neighborhoods and have a lower quality of life. It's subtle, it's not spoken about, but it exists and it's open. Racism in Brazil is inside the house with people hiding it with shame, even if it is with the same DNA.”

The role of the new studies into Brazil’s DNA is key here. Scientific research can shed light on what Black people have always known and felt.

An Incorrigible Optimism

DNA do Brasil offers more than just a reconsideration of national and personal histories. Beyond everything else, the findings of the study are providing a wealth of scientific knowledge that could lead to groundbreaking practical uses.

Pereira explains, without hiding the excitement, that "we are already seeing that by sequencing the genome of Brazilians we find a number of variants of unidentified sequences not yet found in other populations." These findings, according to Pereira, are “very significant” for a variety of reasons.

Besides the "enormous opportunity for us to get to know new genomic variants associated with phenotypic and genomic characteristics, we are also seeing the ancestry of an American population that no longer exists,” explains Pereira. “Sequences of extinct populations and mixture of African ancestry – we find mixtures of African populations that we don't even find in Africa, but that are found in Brazil.”

Hünemeier jumps in, saying that she’s “thinking of the number of indigenous people we had here, about 3 million, and this African contingent forced to come to Brazil," both with vast genetic and linguistic diversity. She notes that "We can map this out by working at the genomic level. And also, many Europeans, from various parts, with diverse histories – as fugitives, for example. There is all this mosaic represented in Brazil, with the largest Black population outside of Africa and, for the first time, we have included indigenous people in genomic studies.”

For those of African descent, the research sheds light on their past. If in many cases it does not bring surprising news, it does give them a tool with which they might change Brazil's racist mentality little by little. Moreno explains to me that this research "ends up being yet another indicator that the country structures its racism to maintain the privilege of white people and of those who have a more comfortable place [in society]. So perhaps I can tell you, from my incorrigible optimism, that it helps whites understand how they are part of this structural racism.” For those long left out of the upper echelons of Brazilian society, they can now hope to tell the story as it really happened, rather than the institutionally supported narrative that denies centuries of genocide, violence, and attempts to erase the country’s Black history.

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