First draft of the human pangenome

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When the human genome was first sequenced, I was working in an organisation that talked about biotechnology in all its forms – the good, the bad and the ugly. It was such a big deal and I remember the excitement and possibilities.

It seems now that it’s very basic and everyday, as is sequencing of every other kind. Personalised medicine is much more routine: just last week a colleague was diagnosed with lung cancer and a sample of it was sent to Brisbane for sequencing to help ensure more effective treatment (all the best John, we are with you).

But this human genome was very limited. It didn’t take into account people’s different heritages. In short, it was averaged and very white.

But now the first draft of the human pangenome has been released and it includes 47 distinct genomes from different backgrounds. This sounds like a lot of extra work, and it has been, but it’s important. People with different genetic backgrounds respond to disease and treatments differently, for example. Hell, even women present diseases differently to men (as I discussed ages ago). So one reference genome does not have enough detail.

The researchers are aiming to have 350 genomes in the pangenome by 2024, so this will help understand our genetics as well as our evolutionary origins.

I talked about this with Danny Hoyland on West Bremer Radio on 13 May 2023. Listen live each week: Saturday 7.40 am, West Bremer Radio.

Source: The First Draft of The Human Pangenome Has Arrived. Here’s Why It’s So Important.

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