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Role of Human Genomic Data in Future

Life Sciences Review | Monday, July 18, 2022
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The first draft of human genomics led to the beginning of the ‘biology’ century.


FORMAT, CA: In the Nature and Science journal, the first draft of the human genome was published 20 years ago, which led to the beginning of the ‘biology century. In just one-fifth of a century, the corpus of knowledge has expanded from two shaky and error-filled genome sequences to a complete record of the genetic variation of hundreds of thousands of people worldwide, as well as an expanding number of instruments to examine it.


Genome research deals with many ethical, legal, and social implications, including questions of privacy, informed consent, and impartial representation of researchers and participants, which remains uncertain. Moreover, free and open access to genome data is implemented in an imbalanced way. Recently, researchers highlighted the problems occurring due to the lack of accessibility to coronavirus genomes in the middle of a pandemic. These issues should be addressed and promises of the Human Genome Project must be fulfilled by the researchers, funders, and journals to better understand diseases and enhance diagnosis treatments.


In the Nature journal, the sequence was free to access; the initial assembly was posted online a few months in advance. This was following the Bermuda Principles, an agreement on data sharing signed by members of the international consortium that made the Human Genome Project possible.


In 1996, Nature committed to the open-data standards for genomics research. When publishing the Human Genome Project’s first paper, the journal collaborated with a publicly funded initiative that was committed to data sharing. Later, the journal acknowledged some challenges, such as maintaining an open flow of ideas, and free access to the content, which meant the research community had to compromise these principles. In 2001, colleagues at Science talked about publishing the draft genome under Celera Corporation in Rockville, Maryland. The research paper was free to access but there were also some obstacles to accessing the whole data.


Twenty years later, concession and overdue are becoming the norms in three domains of genome research


1. Data collection from participants


2. Deposition in approved, publicly accessible databases


3. Access to research and health care


The promise of a comprehensive open data-sharing environment has not been realised.


To revolutionise medicine, the researchers need to combine genomic data with phenotypic data- physical characteristics, medical histories and other known traits can be linked to variants in the genome. But collecting such data might increase privacy risks for research participants, who now have been given more control by choosing how their data is used further and ensuring the appropriate consent and that their interests are secured.


The future step is to deposit the collected genome sequence and the accompanying data into a recognised international database that can carry on to protect those interests. But researchers report that they were not able to update their data on time, citing privacy and consent concerns, or agreements with the companies that have contributed data. The process of depositing data can also be greatly time-consuming which is a technological limitation. Now, scientists are producing more complex data and this is hectic and under-resourced.  


Hence, researchers are finding it very difficult to track down data that should be available as soon as the accompanying research is published. And even after the data is located, they find it difficult to access them.


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