Roma have long had a special fascination with population geneticists who study the frequencies of genetic diseases. The largest minority in Europe, the Roma number 10 to 12 million and live in dispersed groups, mainly in central and south-eastern Europe. A recent comment in Natureby a team from the University of Fribourg, explores how “the Roma of Europe are vulnerable to bad genetic practices”.
A tragic story
The Roma, formerly called gypsies, probably originated in the Punjab region of northwest India around 1,500 years ago. They traveled to Persia (Iran), then through Armenia to the Balkan Peninsula, and reached the Iberian Peninsula in the 15th century. Their genomes diversified as people joined along the way. After they arrived in Portugal and Spain, the persecution began. This was the beginning of extreme discrimination and isolation that would develop over the years.
Roma and Jews became the targets of the Nazi goal of “racial hygiene”. In 1936, investigators from the Race Hygiene and Population Biology Research Center established the pedigrees of these groups to form the rationale for a “scientific basis” for the “Final Solution”. German geneticists studied the Roma. Nobel laureate Ferdinand Sauerbruch has submitted a proposal for a grant to conduct “genetic and medical research” at Auschwitz, funded by the Deutsche Forschungsgemeinschaft. Hundreds of thousands of Roma died in experiments.
The end of Roma slavery throughout Eastern Europe from the mid-19th century and the economic and political changes in Eastern Europe in the 20th century also left their mark on gene frequencies.
The discrimination continued. In the 1970s, the Slovak government began sending Roma children to schools for those with “mild mental disabilities” due to “genetically determined disorders” due to “inbreeding”, according to government documents. It was not until 2020 that the investigation began. Says a geneticist, “The shift from genetics to eugenics can happen quite easily.”
Today, in some Eastern European countries, Roma still live in ghettos, with low incomes and limited access to quality health care and education. Some don’t even have electricity or fresh water to drink.
The twisted history of the Roma has left traces on their genomes. In the parlance of DNA science, Roma experienced a series of founder effects as they migrated west, while their numbers were sapped by demographic bottlenecks fueled by discrimination. Even with the accession of others, reproduction remained mainly among the descendants of those in India.
Over time, due to continued social isolation, the Roma genome came to include sections that were identical in DNA sequence on both chromosomes of a pair. It’s a telltale sign, called “homozygosity races,” that screams endogamy – parents having children together, often unknowingly. Today, the Roma genomes are approximately 80% European and 20% Indian.
The complex ripples of Roma movements across Europe and ostracism have led to variations of monogenic diseases that are more prevalent, if not unique, among them. Nine disorders are caused by “new private” rom mutations, including forms of glaucoma, polycystic kidney disease, limb-girdle muscular dystrophy, and some neuropathies.
The frequency of one disease in particular across Europe, galactokinase deficiency, recaps the Roma journey. I have a figure of it in my human genetics textbook to illustrate the effects of migration on a gene pool.
Galactokinase deficiency is very rare and causes severe symptoms in people in most of Europe, but a mild form in Roma only causes cataracts in infants. It affects 1 Roma Vlax out of 1,600 to 2,500 in Bulgaria, 5% of whom are carriers. But among all Roma in Bulgaria, which includes several groups, the incidence is 1 in 52,000. Further west in Austria, 1 in 153,000 people have it, and in Switzerland even further west , that’s 1 in more than 2 million.
Carriage rates in some Roma groups for various conditions range from 5% to 15%. That’s high enough to warrant newborn screening programs tied to early treatment, or education and carrier screening for conditions without treatment, so people can reduce their risk of having an affected child by using prenatal diagnosis or other strategies. But that didn’t happen. In comparison, 4% of Northern Europeans are carriers of cystic fibrosis, for which neonatal screening is systematic.
The Roma have been ignored, marginalized.
Inequalities in health care
A few geneticists have long recognized the plight of the Roma.
“Due to Roma’s traditionally low socio-economic status and limited access to healthcare, their unique genetic heritage has long escaped the notice of European medicine and is now ‘discovered’ haphazardly,” wrote
Luba Kalaydjieva, professor of molecular genetics at the Western Australian Institute of Medical Research, and colleagues in a 2001 article, Genetic Studies of Roma (Gypsies): A Review. She is a Roma guru with an MD and PhD with almost 200 publications. “Medical genetics has an important role to play in improving the health of this underprivileged and forgotten people of Europe,” they and their co-authors write. Genetic studies should consider cultural anthropology and social organization in the context of population substructure and Roma demographic history to develop public health programs.
In BioEssays in 2005, Kalaydjieva called the Roma “the invisible minority”. Yet their DNA is precious. Researchers have been sampling it since the 1990s, often without informing people of the purpose.
“In many cases, particularly in the late 20th century, data and samples were collected from people, including prisoners, without adequate consent or recording of consent, then passed on to research groups or placed in public databases,” said Veronika Lipphardt, of the University of Freiburg.
Righting past wrongs
In 2022, Lipphardt and his colleagues analyzed hundreds of published research reports that used Roma DNA. They also surveyed five public DNA databases. Breaches of bioethics were commonplace:
DNA samples were taken without adequate consent or without consent, and the DNA sequence and other personal information was deposited in public databases or shared with other researchers.
Some researchers told people that they would receive information about whether they were carriers of certain genetic diseases. This does not happen.
Published articles persisted in using the term “gypsies”.
Some studies have only sampled the most isolated or ill people, which skews conclusions about the general health status of Roma.
Privacy has been compromised. It was easy to cross-reference DNA information in public databases with disease-based databases to identify patients.
Roma are overrepresented in forensic databases. More than half of the entries in a Bulgarian database used to hunt down criminals come from Roma, despite making up just 5% of the population.
No projects aimed at helping Roma who donated DNA.
But change is coming.
Journals are retracting articles that have used the DNA of “vulnerable people” without their consent. Vulnerable populations include indigenous peoples, migrants, displaced people and groups considered foreign in their country of origin, such as Kurds in Turkey and Uyghurs in China.
Projects using DNA information from vulnerable groups now have international oversight committees that include bioethicists, social scientists, forensic specialists and, most importantly, community members. They consider consent; collection, analysis and interpretation of DNA; share results; benefits or harms to donors; and the possibility of opting out.
Beyond the Roma – Other vulnerable people protect their DNA data
Several other vulnerable people participate in projects that use their DNA.
The Native BioData Consortium, founded in 2018, is made up of “the nation’s leading indigenous geneticists, including tribal experts in precision health, technology, law, policy, business, ethics, and cultural issues.” DNA sequencer maker Illumina helps create datasets that encompass all aspects of health; not just genes, but also the social determinants of health.
The San, one of the oldest indigenous groups, live in southern Africa. In 2017, they published a detailed code of ethics summarized in Science. They ask that “respectful researchers engage with us before conducting research. It should not be assumed that San will automatically approve research projects presented to us. We have encountered a lack of respect in many cases in the past. For example, researchers have photographed young children and nursing mothers without their consent.
The San are also asking for clear communication of the results of the study. “We need an open and clear exchange between researchers and our leaders. The language should be clear and non-academic. Complex issues need to be carefully and correctly described, not just assuming the San can’t understand.
Transparency, of risks and benefits, is essential. “In the past, researchers have changed the course or goals of an investigation, have not shown San papers before publication, and the work has brought them no benefit,” they write.
The Australian National Center for Indigenous Genomics summarizes their situation, which is universal. Their goal is “to harness DNA science to improve the health and well-being of Australia’s First Peoples. Our DNA. Our people. Our stories. Our way.”
Thanks to Diana Fredriksson for the suggestion to write this article.