Mapping 3.3 billion pairs of letters in the human genome took 13 years, with the computing power available at the time.
Times have changed and DNA mapping is now a far faster process, which led the US National Human Genome Institute to publish groundbreaking research.
Rather than being a map of an individual’s DNA, which the original was, their version is created from the DNA of 47 people. They originate from Africa, Asia, the American continent and Europe, bringing greater diversity.
Whilst the 47 DNA profiles are able to be looked at separately, they can also be combined, or variations amongst them identified.
This helps us to understand how genetic differences influence health and develop treatments which benefit everyone. Genetic diagnostic testing can also become more inclusive, rather than having an unintended bias.
Looking at one person’s genome from 2003 means you miss differences which play a part in diseases. Much has been achieved but the latest information has the potential to transform medical research.
Neither will progress stop at current levels, with the researchers planning to take the number of samples involved from 47 to 350. Then work with institutes from other countries, to further widen knowledge.
As with testing we offer, for the potential to develop melanoma, the intention is often to identify mutations in specific genes. Fresh genetic information will increase the range of tests for current, or newly emerging conditions.
Genetically directed therapies are already in use for serious diseases, including cancers and more will be developed. Importantly, subtle differences across varying ethnic groups will be better understood.
A study in the UK has shown that children of European ancestry are more likely to be diagnosed through genetic testing than those of African ancestry. Due to the tests developed, rather than bias.
We do need to take care to ensure that genetic detail on diversity is not misused but this shouldn’t be. The differences between all of us are tiny, yet they can matter for medical accuracy.
A map of a single human genome is valuable but will not represent all of humanity. Coming closer to this means we can provide more equitable healthcare.
As research deepens, perhaps with the help of artificial intelligence, so will our knowledge. In an increasingly diverse nation, this is important and can help to set aside any anomalies in available care.
By all means see our section on dermatology for darker skin, which explains why skin deep differences are just that but still need to be understood.