Analysis was carried out by researchers from Cepid Brainn and published in NPJ Genomic Medicine, group periodical Nature
Researchers of Cepid Brainn published a study this month in NPJ Genomic Medicine, scientific journal of the group Nature, which demonstrates the importance of obtaining and sharing genetic data from the Brazilian population. The article The Brazilian Initiative on Precision Medicine (BIPMed): fostering genomic data-sharing of underrepresented populations analyzed two genomic databases containing information from 358 Brazilian individuals. In total, more than 800 variations were identified that were not present in some of the largest genetic data repositories in the world.
The work highlights the importance of carrying out population genomic studies in the country, whether for the implementation of precision medicine, whether to advance the understanding of genetic variations and their correlation with predisposition to diseases. The study also reinforces the importance of sharing this data with the global scientific community.
The published article presents the results of the work of the BIPMed, an initiative of five national research groups with the aim of facilitating the implementation of precision medicine in Brazil. BIPMed, supported by FAPESP, began in 2015, when it had genetic data from 29 individuals in its repository. Currently, the group already has information from more than 890 individuals, being responsible for 03 of the 06 largest genetic databases on the platform Leiden Open Variation Database, one of the main repositories of information of this type in the world.
Brazilians, who account for almost 3% of the world's population, are still underrepresented in global genetic databases. Despite being a country where research involving the collection of genetic samples occurs frequently, the sharing of this data with the scientific community is still incipient in the country. The results of the study reveal the enormous importance of having specific knowledge about the genetic characteristics of local populations, integrated into large global databases.
In technological terms, this is not a challenge. BIPMed itself has a platform in which research groups can register and send data from their genetic studies. All data confidentiality parameters and access levels are registered on the platform and formalized in a contract, ensuring the good use of information. Furthermore, the BIPMed team itself helps standardize submissions for incorporation into the databases.
“To date, we have not refused any submission, and all of them have been successfully incorporated into the platform”, he says Iscia Lopes Cendes, researcher at the Molecular Genetics Laboratory at the Faculty of Medical Sciences (FCM) at Unicamp, member of Cepid Brainn and one of the authors of the published study.
IS IT SAFE TO SHARE GENETIC INFORMATION?
The concepts of 'DNA', 'genetics' and 'genomics' are largely unknown to the general public around the world, including in countries with excellent public education, such as Japan
Perhaps the issue of data privacy is the most controversial when it comes to the shared use of genetic information. Many researchers and research groups, even though they are aware of the benefits that data sharing can bring to society, are still opposed to sharing information. And the general public seems to agree: a study also published this month in The American Journal of Human Genetics [3], from the group Cell, interviewed more than 36 thousand people, in 22 countries, and discovered that the majority of them would prefer not to provide their genetic data for scientific research, in addition to not trusting the process of sharing this data between different groups (doctors, researchers, companies, etc.). It is not surprising to note that, according to the article, the concepts of 'DNA', 'genetics' and 'genomics' are largely unknown to the general public around the world.
For people outside the academic field, there is the impression that DNA carries “special” medical information, which would also require special protection. According to the research, among people familiar with the concepts of genetics, genomics and DNA, the desire to share this information is greater. Mission, therefore, for the global scientific community: to increase the level of public confidence in the use of this data and in how the privacy of individuals can be protected, in a way that is both safe and does not impede scientific studies.
Currently, there are numerous protocols and ways to make genetic data anonymous, many of them being used by the BIPMed team and present in the data transfer contract. The fact is that, with due technical knowledge and having access to additional information about donors of genetic material, it is theoretically still possible, in some cases, to correlate a genetic sample with a specific individual; however, this is far from trivial work, and in practical terms it should not be a concern. The benefits of secure and anonymized data sharing far outweigh the potential misuses.
In several places around the world, such as the United States and the European Union, the public and open disclosure of data is a requirement that funding agencies, scientific journals and society itself already require for a genetic study to be carried out. Here in Brazil, there is a movement on the part of development agencies in this same direction. It is expected that, within a few years, information sharing will become popular in the country, based on an in-depth understanding of the ways in which the privacy of participants can be maintained and how property of this data can also be guaranteed.
“Just because the data is public does not mean it can be used in any way, by any research group”, explains Dr. Iscia. “There are already protocols that ensure that data generated in a country is properly identified and has full national control, which is extremely important to benefit native populations and, at the same time, allow scientific advancement.”
ADDITIONAL BENEFITS OF DATA SHARING FOR THE COUNTRY
Sharing data will also be a fundamental step towards “internationalizing” Brazilian Science – still, to a large extent, averse to international collaborations. “Brazilian Science has a good production of articles, of good quality, but with low citations and participation of international collaborators”, explains the researcher. “Argentina, for example, which has a smaller research structure than ours, has much more international collaboration. Data sharing is an essential path to opening these new fronts of scientific development.”
Read the full article on the website Cepid Brainn.
