Client Goal:
54gene aimed to raise awareness about the underrepresentation of the African population in genomic research and its risks. They wanted to position themselves as leaders in bridging this gap and leveraging diverse genetic data to create inclusive and effective healthcare solutions.My Contribution:
I researched the implications of underrepresentation in genomic research and wrote an article highlighting its risks. The piece underscored 54gene’s mission to address this issue and effectively communicated their leadership in promoting diversity in genetic research to drive impactful healthcare innovations.The Result:
Within two months of publishing, the article increased blog traffic by 30%, with a 20% rise in engagement from healthcare professionals and researchers. This reinforced 54gene’s reputation as a leader in advancing inclusive genomic research and healthcare solutions.
“Diversity issues aren’t just moral, but also scientific.” – Alicia Martin,
Geneticist, Broad Institute of MIT and Harvard.
In 2003, the Human Genome Project was completed, marking a monumental achievement for science and humanity. It promised to arm researchers with the tools to pinpoint genetic flaws and defects associated with specific diseases. However, a few years after its completion, studies began uncovering novel genetic regions and variants in people of non-European origin, sparking a global conversation about the need for diversity in genomic studies.
Among the most excluded participants in genomic research is the African population, which constituted less than 3% of Genome-wide Association Studies (GWAS) by 2018. This exclusion has led to disproportionately large datasets based predominantly on European-focused findings, while the data gap for African populations continues to widen.
According to a commentary in the journal Cell, 78% of data used in GWAS comes from individuals of predominantly European descent, even though they make up only 16% of the global population. Sarah Tishkoff, a University of Pennsylvania genetics and biology professor, and her colleagues highlighted in the same commentary that the lack of racial and ethnic diversity in genomic research hampers the accurate translation of findings into clinical practice and health policies. This oversight risks costly misinterpretations, as most populations have unique genomic profiles that remain under-researched. Underrepresented demographics face additional challenges in diagnosing diseases due to the difficulty of identifying novel genetic variants responsible for their symptoms. Neil Risch, a human geneticist at the University of California, noted in The Scientist that diseases in these populations are often caused by yet-to-be-identified pathogenic variants.
Exclusion from genomic studies is not just a lost opportunity to better understand the human genome but also poses a health risk to underrepresented groups. For example, people of African, Puerto Rican, and Mexican descent have long been known to suffer disproportionately high rates of asthma-related deaths. Recent research revealed that these groups carry genetic variants linked to reduced sensitivity to Albuterol, a common asthma medication. This finding, which could have been made earlier with more diverse genomic data, highlights the consequences of focusing 90% of such research on populations of European descent. Similar discrepancies extend beyond lung diseases to many other conditions.
Including African ancestry in genomic research improves our understanding of health disparities. While social and economic factors are the primary contributors to health inequities, genomic research can help disentangle disparities in health outcomes that are often misattributed to race. Modern humans originated from a common ancestor in Africa, and the migration of sub-populations led to genetic changes solidified by distinct settlement environments. Despite this, Africa retains the greatest genetic diversity in the world. Without fully understanding this diversity, accurate mapping and identification of new disease loci remain challenging.
Addressing these oversights requires collecting new samples from previously overlooked populations. Initiatives like those led by 54gene aim to bridge this data gap from an African perspective. As a health technology company, 54gene conducts research into prevalent diseases and delivers precision medicine to the continent and beyond, leveraging state-of-the-art equipment, novel methods, and techniques. By incorporating diversity into genomic data, opportunities emerge to uncover new genes linked to diseases and develop therapeutics based on insights from uncharted genomic territories.
Source materials
- Lack of Diversity in Genetic Datasets is Risky for Treating Disease
- Lack of diversity in genetic research could be costing us our health
- The Missing Diversity in Human Genetic Studies
