June 26th marked the 15-year anniversary of the first published draft sequence of the human genome. To the astonishment of the scientific community, it not only showed that we humans are 99.9% identical to one another but also, with 20,500 genes, we are about as genetically complicated as mice.
On the cusp of the millennium, researchers and government officials came together to achieve a momentous scientific accomplishment that not only revealed a lot about us as a species, but also promoted rapid development in numerous fields of scientific research and proved invaluable for advancements in medical healthcare.
Many talked about the ethical implications of the use of the human genome in medicine, sparking concern about the ‘slippery slope’, fearing knowledge of the human genome might lead to genetic discrimination and designer babies, but – reassuringly – there has been very slow and considered progress since its publication.
Instead, use of the human genome as a fundamental factor in medical research has led to substantial advancements in our abilities to prevent, treat and cure disease. Since its publication, and subsequent development, researchers have used the human genome as a tool to study genetic disorders and, consequently, have massively expanded on their understanding of the aetiology of many of these disorders.
Although there is still some way to go yet, notable success stories include the identification of BRCA2 (increased risk of breast cancer), MSH2 (increased risk of colon cancer) and 5 variants on the FAD gene (almost 100% risk of Alzheimer’s disease).
- Emily Hardy BSc
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