In 2009, researchers collected DNA from four elderly men in Namibia, each from one of the many San indigenous communities scattered across southern Africa. A year later, analyses of the mens DNA were published in the journal Naturealongside that of South African human rights activist Desmond Tutu. The intention, in part, was to increase the visibility of southern, indigenous Africans in genetic-based medical research. Soon after, a nongovernmental organization representing indigenous minorities in Southern Africa took issue with the consent procedures used to gather the data and wrote to Natures editors accusing the papers authors of absolute arrogance, ignorance, and cultural myopia.
The San case highlights the thorny ethics of collecting genetic data. Yet today, to make medicine more equitable, scientists see the importance of sampling DNA from more diverse populations. Most genetic research uses DNA from descendants of Europeans, which means the related medical applicationssuch as genetic tests to see the likelihood of developing a certain disease, called polygenic risk assessments can only benefit those populations. In 2018 in the United States, for example, the National Institutes of Health launched All of Us, a research program that aims to collect DNA, electronic health records, and other data, from about one million Americans with emphasis on including many different groups of people.
When we do genetic studies, trying to understand the genetic basis of common and complex diseases, were getting a biased snapshot, said Alicia Martin, a geneticist at the Massachusetts General Hospital and the Broad Institute, a biomedical and genomics research center affiliated with Harvard and MIT.
Research to capture these snapshots, called genome-wide association studies, can only draw conclusions about the data thats been collected. Without studies that look at each underrepresented population, genetic tests and therapies cant be tailored to everyone. Still, projects intended as correctives, like All of Us and the International HapMap Project, face an ethical conundrum: Collecting that data could exploit the very people the programs intend to help.
Researchers with All of Us have already collected data from about 1,600 Native Americans, some of whom live in cities outside of sovereign lands, where tribal approval is not necessary for genetic research, according to Krystal Tsosie, a geneticist at Vanderbilt University who is co-leading a study in collaboration with a tribal community in North Dakota .
Obviously theres an interest in monetizing biomarkers collected from diverse populations and underrepresented populations, Tsoise said, so without adequate protections, the concern becomes about exploitation.
Medical genetic research generally works like this: Geneticists use powerful computers to compare the genomes of people affected by a particular disease to healthy controls. Researchers mark genetic patterns that are common in people with, say, diabetes, but not the controls, as associated with the disease. The more samples geneticists feed to the algorithms, the more likely that the findings reflect reality.
But studies restricted to descendants of Europeans will only find associations between diseases and variants that are common in European ancestry populations, said Martinif those variants are common enough to be found.
Scientists use the results to develop polygenic risk scores, which count the risky variants on someones genome to estimate their susceptibility to a disease. But if studies dont use the genomes of non-white populations, the tests wont pick up on the problematic variants in different groups of people. One 2019 Nature Genetics study, on which Martin was an author, determined that these blind spots reduce the accuracy of polygenic tests by approximately two and five times in South or East Asian, and black populations, respectively.
In many cases, the groups whose DNA is missing have worse health care outcomes compared to their white counterparts, and genetic medicine could worsen these disparities. I think theres a huge responsibility, said Martin. If we look at the history of the field, over the past decade weve gone from participants in genetic studies being 96% European ancestry to about 80 percent. Weve shifted gears a little bit, but not nearly enough to be able to serve minority populations. Jantina De Vries, a bioethicist at the University of Cape Town, agreed that representation in genomics research can bring health benefits, particularly if it is paired with measures to build research capacity so that, eventually, there are researchers at every level within the groups themselves.
Collecting broader genetic samples poses a host of challenges. Efforts to collect and study the genomes of indigenous peoples, for example, have been controversial since the early 90s. The first such project, called the Human Genome Diversity Project (HGDP), was meant to explore the full range of genome diversity within the human family by collecting DNA samples from about 500 distinct groups, with an emphasis on indigenous peoples that might soon vanish. Indigenous-rights organizations criticized the project, taking issue with being treated as mere objects of scientific interest and potential for commercialization. All of Us, more recently, has run into similar objections from the National Congress of American Indians.
The concerns are linked to the long history of exploitative encounters between researchers and vulnerable populations. The Tuskegee Studyin which the US Public Health Service withheld treatment from African American men with syphilislasted from 1932 until 1972, ending less than 20 years before the HGDP proposal. And in 1989, researchers from Arizona State University collected DNA samples from the Havasupai Tribe and reused the data for research to which the participants hadnt consented: on schizophrenia, inbreeding, and migration history. Tsosie said this context has created a climate in which weve seen tribes deciding to disengage from biomedical research completely.
All the geneticists and ethicists Undark spoke with agreed that community engagement is crucial to establish trust. But they didnt agree on the degree of the engagement. Some believed that gaining the consent of communities is necessary for ethical research, while others said it was enough to have respect and open dialogue between researchers and the people theyd like to study.
But both approaches are difficult in the context of collecting and analyzing genetic data, since geneticists take DNA from individuals to make conclusions about entire populations. For instance, the San paper in Nature extrapolated findings regarding individual genomes to discuss the genomes of the broader communities. Ones genome is not their own specifically; ones genome is informed by their recent ancestry, their family structures, and their more distant ancestry, said Tsosie. Geneticists are never talking about an individual thats siloed.
The gap between individual and collective consent is partly responsible for the continued friction between genetic science and indigenous peoples. Collective consent, said Tsosie, who is herself Navajo, is more culturally consistent with how tribal groups govern themselves. In 2017, Andries Steenkamp, a San leader, and Roger Chennells, a lawyer, wrote that the Nature study failed in this regard by only getting informed consent from the indigenous individuals who participated.
Not everyone agrees that collective consent can or should be a requirement for all genetic studies. For instance, de Vries said, it depends what sort of community were talking about, drawing a contrast between small, rural, communities and larger populations spread across several cities or countries. If were talking about the entire Yoruba population, who would you even talk to? she added. The Yoruba are an ethic group of more than 20 million individuals, most of whom live in Nigeria, with smaller populations in Benin, Togo, and across several diaspora communities. De Vries believes the onus lies on researchers to think in terms of respecting communities, rather than in terms of collective consent.
Gaining collective consent involves logistical hurdles, especially for large-scale projects. The NIHs All of Us program, for example, wasnt able to get input from each of the 573 federally-recognized tribes. According to Tsosie, during the planning stages, there was talk of gaining tribal input, but that plan seemed to be abandoned early on. The All of Us website does have a section on tribal engagement, but only offers formal consultation and listening sessions for ongoing projects, not guidance on how to approach these issues before a project starts.
Among non-indigenous policymakers and scientists, Tsosie noted, theres a magical notion that stakeholders from every tribe can be brought together in one room when, in reality, that is not how we make consensus decisions for ourselves.
Even more difficult than logistics, perhaps, may be conceptualizing the genetic studies to begin withfor example, deciding which people belong in which groups. One of the greatest political acts, acts of power, that we perform as human beings is dividing ourselves up for the purpose of knowing and governing ourselves, said Jenny Reardon, a sociologist who specializes in genomics at the University of California, Santa-Cruz.
Globally, indigenous peoples are so culturally distinct from one another that a single understanding of a community wont resonate with everyone. Finding a method for data collection that crosses all indigenous groups is going to be really hard, said Vanessa Hayes, a geneticist at the Garvan Institute of Medical Research and the University of Sydney in Australia who conducts fieldwork in South Africa. Because, straightaway, thats assuming all indigenous people are the same. Without common ground, scientists must do the hard work of understanding each unique community. As Hayes put it, every group that you work with, you have to respect that group, and take the time to understand what is important in that group.
Hayes was one of the authors of the 2010 Nature study on the San, and she was responsible for obtaining consent, gathering samples, and discussing the results with the community. While Steenkamp and Chennells suggested the researchers were hasty in their data collection and ignored governance structures, Hayes countered that, at the time of the study, shed already been working in these communities for more than a decade and they were working directly with government agencies. Shed been in contact with the Working Group of Indigenous Minorities in Southern Africa (WIMSA)the NGO which would eventually criticize the studybefore it began. But, she said, when I went back to the community and asked if they knew who WIMSA was, they said no. I asked them if they wanted WIMSA to represent them, and they said, Hell no.
(As an organization, WIMSA is currently being restructured. The South African San Council, which now represents the San communities of South Africa, declined an interview with Undark, citing a requirement for financial compensation and a signed contract.)
Hayes followed the principles of collective consent, she said, just at a lower level than formal institutions like WIMSA or the San Council: Their decision was made as a group. They are the group, they are the band, they are the family. She added, No one can represent them that is not them.
The difficulties in defining a group make collective consent even more challenging.
In the clearest of circumstances, where an established organization exists, approval processes can be difficult to navigate and can take months. But within some indigenous and minority groups, issues of representation remain controversial. Often, a scientist will have to invest a lot of time interacting with potential subjects in order to judge what consent procedures are appropriate. Few scientists have the necessary time and resources.
There is no easy way to choose which organizations to deal with, especially when there are internal disagreements about representation. Or, as Reardon put it: The folks that are trying to democratize the science are going to have the same problem as the people who were attempting to treat it as Were just going to go out and get these groups, and study them from a scientific perspective.
Although the repeated controversies surrounding research and indigenous groups may have slowed their inclusion in genetic science, the researchers Undark spoke with said ensuring these concerns are heard and addressed is a vital part of the work. Indigenous groups are demanding a greater say in research that concerns them, whether under the All of Us program or conducted by individual researchers in Africa. Resolving the ethical ambiguities is no easy task, but, as Hayes asked: Why should it be easy?
This article was originally published on Undark. Read the original article.
View original post here:
The thorny ethics of collecting genetic data - Quartz
- Genetics - National Geographic Society - March 28th, 2025
- Genetics: Introduction, law of inheritance and Sex Determination - BYJU'S - March 28th, 2025
- Genetics, ecology and evolution of phage satellites - Nature.com - March 28th, 2025
- As a geneticist, I will not mourn 23andMe and its jumble of useless health information | Adam Rutherford - The Guardian - March 28th, 2025
- Rare loss-of-function variants in HECTD2 and AKAP11 confer risk of bipolar disorder - Nature.com - March 28th, 2025
- With 23andMe filing for bankruptcy, what happens to consumers genetic data? - The Conversation Indonesia - March 28th, 2025
- A genetic tree as a movie: Moving beyond the still portrait of ancestry - Phys.org - March 28th, 2025
- Genetic mutations linked to Marek's disease in chickens identified - Phys.org - March 28th, 2025
- 23andMe is looking to sell customers genetic data. Heres how to delete it - CNN - March 28th, 2025
- Horses Pulled Off a Genetic Trick Only Viruses Were Thought to Use - SciTechDaily - March 28th, 2025
- CONSUMER ALERT: Warning 23AndMe Customers That Their Private Genetic Data May Be at Risk - Office of the Attorney General for the District of Columbia - March 28th, 2025
- A new study reveals the genetic change that made horses so athletic - KUOW News and Information - March 28th, 2025
- "Mystery ancestors" gave humans 20% of our current DNA, but who were they? - Earth.com - March 28th, 2025
- Correcting the Mutation Behind a Genetic Eye Disease - The Scientist - March 28th, 2025
- Your DNA is safe here: The AncestryDNA Genetic Test Kit is only $39 now - New York Post - March 28th, 2025
- 23andMe Is Bankrupt. Heres What You Need to Know About Your Genetic Data. - The Wall Street Journal - March 28th, 2025
- Commentary: 23andMe files for bankruptcy, putting its hoard of personal health information at risk - Los Angeles Times - March 28th, 2025
- DNA Microscopy Creates 3D Maps of Life From the Inside Out - SciTechDaily - March 28th, 2025
- Eugenics Must Be Included in Genetics Curriculum: Prof - Mirage News - March 28th, 2025
- 11-minute video on human genetics can make people more accepting of others, reveals new study - Hindustan Times - February 24th, 2025
- Advancing Cancer Genetic Testing to Improve Prevention and Patient Treatment - The Scientist - February 24th, 2025
- Environmental factors, lifestyle choices have greater impact on health than genes, study finds - ABC News - February 24th, 2025
- Study finds lifestyle, environment have greater impact on lifespan than genetics - CBS Boston - February 24th, 2025
- Safeguard repressor locks hepatocyte identity and blocks liver cancer - Nature.com - February 24th, 2025
- Mass spectrometry-based mapping of plasma protein QTLs in children and adolescents - Nature.com - February 24th, 2025
- The Avestagenome Project and TIGS Sign Strategic Alliance to Advance Research in Rare Genetic Disorders - The Tribune India - February 24th, 2025
- Researchers make breakthrough discovery after studying genetics of trees: 'There is a need for proactive conservation' - MSN - February 24th, 2025
- iPSCs and iPSC-derived cells as a model of human genetic and epigenetic variation - Nature.com - February 24th, 2025
- Beyond genetics: The biggest factors that influence health and aging - Earth.com - February 24th, 2025
- Genetic diversity and dietary adaptations of the Central Plains Han Chinese population in East Asia - Nature.com - February 24th, 2025
- How a uniquely human genetic tweak changed the voices of mice - NPR - February 24th, 2025
- Genetic evidence identifies a causal relationship between EBV infection and multiple myeloma risk - Nature.com - February 24th, 2025
- Genetic markers of early response to lurasidone in acute schizophrenia - Nature.com - February 24th, 2025
- Bupa to offer first genetic test for disease prediction in UK - The Times - February 24th, 2025
- Advancing Therapeutic Knowledge of Genetic Influence in ALS: Matthew B. Harms, MD - Neurology Live - February 24th, 2025
- Association of dietary carbohydrate ratio, caloric restriction, and genetic factors with breast cancer risk in a cohort study - Nature.com - February 24th, 2025
- Evaluation of polygenic scores for hypertrophic cardiomyopathy in the general population and across clinical settings - Nature.com - February 24th, 2025
- Familiar autism-linked genes emerge from first analysis of Latin American cohort - The Transmitter: Neuroscience News and Perspectives - February 24th, 2025
- Almost 90% of people would agree to genetic testing to tailor medication use, survey finds - Medical Xpress - February 24th, 2025
- Largest Genetic Study of Bipolar Disorder Identifies 298 Regions of the Genome That Increase Risk for the Condition - Mount Sinai - January 27th, 2025
- Study Sheds Light On The Origin Of Earth Lifes Genetic Code - Astrobiology News - January 27th, 2025
- Largest study on the genetics of bipolar disorder to date gives new insights into the underlying biology - Medical Xpress - January 27th, 2025
- Genetic Swiss Army Knife: New Tool For Gene Editing And Therapy - Forbes - January 27th, 2025
- Uhm Ji-won says the power of genetics is undeniable with Hyun Bin and Son Ye-jin's son - - January 27th, 2025
- Integrative proteogenomic analysis identifies COL6A3-derived endotrophin as a mediator of the effect of obesity on coronary artery disease -... - January 27th, 2025
- Genetic analysis reveals the genetic diversity and zoonotic potential of Streptococcus dysgalactiae isolates from sheep - Nature.com - January 27th, 2025
- Eight psychiatric disorders share the same genetic causes, study says - Medical Xpress - January 27th, 2025
- Exploring genetic associations and drug targets for mitochondrial proteins and schizophrenia risk - Nature.com - January 27th, 2025
- Predictive Genetic Testing and Consumer Genomics Market - GlobeNewswire - January 27th, 2025
- Evolution without sex: How mites have survived for millions of years - EurekAlert - January 27th, 2025
- Our Understanding of Rules that Produce Lifes Genetic Code May Require a Revision - DISCOVER Magazine - January 27th, 2025
- Personalized therapy for rare genetic diseases: Patient-derived organoids offer new hope - Medical Xpress - January 27th, 2025
- The One Thing That's More Important for Longevity Than Your Genes - Parade Magazine - January 27th, 2025
- Complete recombination map of the human genome created - Medical Xpress - January 27th, 2025
- Evidence of genetic determination of annual movement strategies in medium-sized raptors - Nature.com - January 27th, 2025
- Genetic study of Alaska red king crabs suggests species is more diverse and resilient to climate change - Global Seafood Alliance - January 27th, 2025
- Smartwatches reveal insights into psychiatric illnesses and genetic links - Medical Xpress - January 27th, 2025
- Unlocking the Blueprint of Human Life With a Revolutionary DNA Map - SciTechDaily - January 27th, 2025
- Largest Genetic Study of Bipolar Disorder Identifies Nearly 300 Risk-Associated Genome Regions - Inside Precision Medicine - January 27th, 2025
- Genetic Discrimination Is Coming for Us All - The Atlantic - November 16th, 2024
- Family connection: Genetics of suicide - WNEM - November 16th, 2024
- Study links heart shape to genetic risk of cardiovascular diseases - News-Medical.Net - November 16th, 2024
- Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits - Nature.com - November 16th, 2024
- Genetic connectivity of wolverines in western North America - Nature.com - November 16th, 2024
- Toward GDPR compliance with the Helmholtz Munich genotype imputation server - Nature.com - November 16th, 2024
- Leveraging genetic variations for more effective cancer therapies - News-Medical.Net - November 16th, 2024
- Bringing precision to the murky debate on fish oil - University of Arizona News - November 16th, 2024
- International experts gathered in Tashkent to tackle rare disease for Uzbekistan - EurekAlert - November 16th, 2024
- Mercys Story: Living life with 22q, a genetic condition - WECT - November 16th, 2024
- Cold case with ties to Houghton County solved through genetic genealogy after 65 years - WLUC - November 16th, 2024
- 23andMe customer? Here's what to know about the privacy of your genetic data. - CBS News - November 16th, 2024
- Single-cell RNA analysis finds possible genetic drivers of bone cancer - Illumina - November 16th, 2024
- Multi-trait association analysis reveals shared genetic loci between Alzheimers disease and cardiovascular traits - Nature.com - November 16th, 2024
- With 23andMe Struck by Layoffs, Can You Delete Genetic Data? Here's What We Know - CNET - November 16th, 2024
- Genetic testing firm 23andMe cuts 40% of its workforce amid financial struggles - The Guardian - November 16th, 2024
- Genetic study solves the mystery of 'selfish' B chromosomes in rye - Phys.org - November 16th, 2024
- Genetic changes linked to testicular cancer offer fresh insights into the disease - Medical Xpress - November 16th, 2024
- Eating less and genetics help you to live longer, but which factor carries the most weight? - Surinenglish.com - November 16th, 2024
- We must use genetic technologies now to avert the coming food crisis - New Scientist - November 16th, 2024
- NHS England to screen 100,000 babies for more than 200 genetic conditions - The Guardian - October 6th, 2024