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Mapping the human genome in 20031 transformed healthcare. But some of the biggest advances are still to come.

Dr Robin Clark, Medical Director of Bupa UK, says,

“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.”

Fresh vision

It wasn’t until 2022 that some of the last details of the human genome were mapped. One of the scientists involved reflected, “Truly finishing the human genome sequence was like putting on a new pair of glasses.”1

Gene therapies

In the meantime, screening for cancer-causing genes such as BRCA 1 and 2, allows carriers to have preventative surgery. This can reduce their risk of developing cancer by 90 to 95%.5

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. Once thought to be unimportant, it is now known to influence our risk of disease by regulating genes, often turning them on or off.6

Multiple factors

Most illness are caused by a combination of factors. Multiple genetic, environmental and lifestyle factors and genomics. Scientists are using big data to help identify these complex patterns and associations.

Genetic risk scoring

A recently published study used Biobank data and polygenic risk scores to show that early onset hypertension is associated with high cholesterol and poor cardiovascular health.8

But when high blood pressure begins later in life, it is most commonly linked to vascular and metabolic health and is often associated with diabetes, obesity and chronic obstructive pulmonary disease.

Proactive and Personal

Dr Clark adds,“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.”

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. 9, 10

Crucially, the cost of this technology is plummeting.

Rapid reads

Second generation technologies can read around 20,000 letters almost perfectly. Or, up to a million DNA letters at a time with moderate accuracy.11

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. 12

Resources and guides

  1. 1 National Institutes of Health (NIH), The complete sequence of a human genome, DOI: 10.1126/science.abj6987
  2. 2 National Human Genome Research Institute, November 2023.
  3. 3 Genomics England, June 2015.
  4. 4 National Human Genome Research Institute
  5. 5 Breast Cancer Org, February 2022
  6. 6 Neuropathy and Applied Neurobiology, Non-coding regulatory elements: Potential roles in disease and the case of epilepsy, DOI: org/10.1111/nan.12775
  7. 7 Genome UK, The future of healthcare, page 29, 2020.
  8. 8 Nature Genetics, Age-dependent topic modeling of comorbidities in UK Biobank identifies disease subtypes with differential genetic risk, DOI: org/10.1038/s41588-023-01522-8
  9. 9 Nature Human Behaviour, Genetic underpinnings of risky behaviour relate to altered neuroanatomy, DOI: org/10.1038/s41562-020-01027-y
  10. 10 National Institutes of Health (NIH), Multivariate genome-wide association meta-analysis of over 1 million subjects identifies loci underlying multiple substance use disorders, DOI: 10.1038/s44220-023-00034-y
  11. 11 National Human Genome Research Institute, August 2022.
  12. 12 National Human Genome Research Institute, January 2022.
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