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Mapping the human genome in 2003 transformed healthcare, but some of the biggest advances are still to come.
It wasn’t until 2022 that some of the last details of the human genome were mapped.
Inherited disease such as cystic fibrosis, haemophilia and sickle cell disease are caused by faults in single genes, while mutations can also increase our risk of developing some cancers.
As Bupa Medical Director Dr Robin Clark explains: “We can alter this inheritance by replacing the faulty gene. This is already happening in children born with rare life-limiting conditions.
“This sort of gene therapy is likely to become increasingly common as genetic sequencing and gene therapies become less expensive.”
Gene screening and preventative surgery
In the meantime, screening for cancer-causing genes allows carriers to have preventative surgery which can reduce their risk of developing cancer by 90 to 95%.
But most diseases are not caused by a single faulty gene and no more than 5% of our genome is actually made up of genes. The rest is non-coding DNA.
Researchers are using this information and other resources to improve the ability to predict a person’s risk of developing common diseases and cancers.
There is also evidence that genes influence behaviours such as risk-taking and substance abuse, opening the way to mental health interventions and support to prevent problems.
Machine learning and artificial intelligence are also being used to identify patterns in gene sequences. AI can already identify some genetic disorders by facial analysis alone.
Only beginning to unlock the power
Dr Clark continues: “Knowledge is power, and people are more likely to be proactive about protecting their health if they know that the health advice they are given is based on their personalised risk profile, and not generalised guidance based on what’s best for the population as a whole.
“Genomics opened a door to a new generation of targeted therapies, particularly in the treatment of cancer, and it has been life-changing for a growing number of children born with what would have been life-limiting genetic diseases.
“But we are only beginning to unlock the power of genomics to predict, prevent and diagnose disease.”
For more on how health treatments are becoming more personalised and aiding prevention, take a look at the full article here.
This article has been abbreviated by Health & Protection.