The National Museum of Emerging Science and Innovation
April 25th is National DNA Day. It celebrates the discovery of DNA’s double helix in 1953 and the completion of the Human Genome Project in 2003. Since these two hallmark events, the field of genetics has advanced further into technologies like gene editing and personalized medicine. In light of these advancements, many concerns have been raised by leaders in the field as tools such as genetic testing and gene editing become more accessible and affordable.
Genomics is riddled with biases and inequity.
Analysis of two public databases of genomic studies revealed that over 60% of studies were based on populations of European descent. Another study found that nearly 88% of genomes used in studies were from people of European ancestry. Meanwhile the reference human genome from the Human Genome Project (GRCh38) was formed by a group of ethnically diverse anonymous volunteers (70% of it is attributed to one individual of mixed European and African ancestry). Thus, the insights gained from genetic studies and predictive models for health and disease disproportionately benefit a single demographic. It has led to misdiagnoses for African Americans and a lack of diagnoses for Asians as genetic tests are based on data sets that do not represent them.
Disparities in data can have harmful consequences for the global community as well. Genomic technologies have aided the development of diagnostics and vaccines during the COVID-19 pandemic and there is a global initiative to study the relationship between the host genome and COVID outcomes. However, COVID-19 human genomics studies are also dominated by a few countries and largely report genomes of European descent, limiting the applicability of their findings to the global community.
Gene editing may exacerbate inequality.
CRISPR technology has taken human gene editing out of the realm of science fiction and made it a part of our reality. In 2018, Jiankui He revealed that he had genetically modified twins to be resistant to HIV, smallpox, and malaria. Since then, germline gene editing has been met with fear and reservations as people asked “Where do we draw the line?” whereas others were excited by the prospect of eradicating hereditary diseases and improving the quality of life for future unborn generations. Earlier this year, an interdisciplinary group of scholars held a debate on the matter called “Use Gene-Editing to Make Better Babies”.
While geneticist George Church argues for gene editing on behalf of eliminating heritable diseases, others fear the technology might be taken too far. Policy advisor Marcy Darnovsky and philosopher Françoise Baylis both believe that normalizing gene editing may lead to a future where gene editing parallels plastic surgery trends today – implementing cosmetic changes that give the rich unfair advantages. These views are shared by the public, according to a survey from the Pew Research Center.
How should we use gene editing technologies?
It’s not often that scientists and leaders in a variety of fields are challenged on a global scale. Jiankui He’s announcement showed how unprepared the scientific community, governments, and society were for human gene editing to be a part of their everyday reality. Shortly after CRISPR was described, a group of scientists came together calling for a halt in gene editing in embryos, eggs, and sperm on the basis of safety concerns and unforeseen societal consequences. Scientists doubled-down on their efforts after He’s work was made public, calling for laws and regulation to germline editing in a moratorium published in Nature.
While gene editing remains a double-edged sword, ethical values and responsibilities need to be examined on an ongoing basis to guide its use and prevent undue harm.