Human genome project delayed. This data could identify genomic sequenced participants
Twenty years ago, the first drafts of the human genome project opened up a new avenue to what some predicted would be “biology’s century”. An update published recently by Nature – Editorial (February 10, 2021) examines the relevant advances and difficulties in this field.
The article discusses the “long-delayed promise” of the Human Genome Project. The difficulty presented by the fact that “some aspects of the research ecosystem around the human have hardly changed […] remains a concern”, even though a large amount of data has been collected over these years, with hundreds of thousands of genome sequences obtained with recently developed novel tools.
Protecting data providers’ rights
In this respect, we excerpt some concerns highlighted by the Editorial that have more bioethical implications:
“Many of the ethical, legal and social implications of genome research — including questions of privacy, informed consent and equitable representation of researchers and participants — remain unresolved, read more HERE. Moreover, free and open access to genome data remains unevenly implemented. Just this week, researchers pointed out the problems caused by lack of accessibility to coronavirus genomes in the middle of a pandemic.”
The article continues, “Twenty years later, compromises and delays are becoming the norm in three domains of genome research:
1. data collection from participants;
2. deposition in approved, publicly accessible databases;
3. and access to research and health care.
The promise of a fully open data-sharing environment has not yet been realized.”
Genome sequence data combined with phenotypic and physical characteristics
The Editorial explains that, in order to “truly revolutionize medicine, it [genomics] needs to be combined with phenotypic data — physical characteristics, medical histories and other identifiable traits that can be linked to variants in the genome” [our emphasis]. However, this data with personal features must be preserved until the privacy of participants is guaranteed, read more HERE.
The Editorial suggests some measures to resolve this issue that we cannot fully address here due to space constraints, but that may be found in the full article HERE.