Diverse Data

Human genomes are 99.9% identical; however, it's differences in the 0.1% which make each of us unique – whether in terms of our hair colour, our like/dislike of certain foods, and even our sleeping patterns.

Variations in genomes can results from factors such as human migration patterns, our ancestry and choice of mate, and oftentimes environmental factors (which along with genetics, can contribute to a trait such as height and weight).

These variants tend to appear at different frequencies across different populations. Sometimes, they're rare and impact only specific families. At other times, the variants are common and can be found across populations.

The human genome is complicated and the discoveries through research have only scratched the surface of understanding everything there is to know about what makes humans unique at the molecular level.

The overrepresentation of populations from ‘WEIRD’ societies (western, educated, industrialised, rich, and democratic), but particularly of white European descent in genomic databases, has resulted in misdiagnoses, poor understanding of conditions and inconsistent delivery of care, as well as mistrust amongst excluded communities on the collection and use of their genetic data. As a result, genomic medicine does not always benefit all people equally.

Prioritising diversity in genomic research can lead to a range of benefits including new understanding of genes that underlie diseases, new treatments for a more diverse range of people populations, more accurate reading of a person’s risk of developing a specific disease, and the design of a clinical management strategy tailored to individuals.

Underrepresentation in genomics research can be attributed to many complex barriers such as language, economic circumstances, cultural beliefs, as well as other pertinent social and psychological factors.

In addition, historical injustice and lived experiences have led underrepresented communities to build a wall of mistrust against medical research. Mistrust has stemmed from very real historical events and abuses, and is reinforced through the current sociopolitical climate. In addition, both inaccessible and insufficient communications have complicated the understanding of benefits and use of their personal data to participants.