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Disease prevention is getting personal
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
The genome is essentially a blueprint for life. It’s made up of 23 pairs of chromosomes. These contain genes which carry the codes needed to make every cell in the body.2 In between are sequences of what used to be called ‘junk’ DNA.3
We know now that both are important. Inherited disease such as cystic fibrosis, haemophilia and sickle cell disease are caused by faults in single genes. Mutations, such as the BRCA1 and 2 genes, can also increase our risk of developing some cancers.4
Gene therapies
Dr Clark says
”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."
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.
The UK is at the forefront of this research. For example, initiatives such as the UK Biobank. This is a database of genetic and health information from half a million people. It has already improved our ability to predict a person’s risk of developing common diseases and cancers.7
Scientists are now in the process of collecting these polygenic risk scores, as they are known, for at least three million people. This will be used to gauge the impact of providing personalised health information based on each individuals risk.
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.
Dr Clark says
“This detailed knowledge is incredibly powerful in terms of disease prevention. Polygenic risk scores can identify the risk factors which are most important for each of us, individually. This allows us to tailor health advice, and early interventions, according to an individual’s own risk."
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.
In 2001 it cost US $100 million to sequence a whole genome and that has fallen to less than $1,000 today.11
The technology is improving, too. Initially, a genome was mapped using a series of ‘short read’ sequences of a few hundred bases, or DNA letters, which were stitched together by computers.
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
As The Government report, Genomics UK: The future of healthcare says,
“We are at an important juncture in the history of genomic healthcare. Rapidly decreasing sequencing costs, combined with increased computer power, mean we are able to understand the human genetic code like never before.”
Dr Clark concludes,
"The technology is improving, too. Initially, a genome was mapped using a series of ‘short read’ sequences of a few hundred bases, or DNA letters, which were stitched together by computers."
Resources and guides
A guide for managers: Supporting employees with long term conditions in the workplace
Join us as Bupa’s medical director, Dr Ravi Lukha, explores the role line managers can play in supporting colleagues with long term health concerns in the workplace.
I'm delighted to be joined by Dr. Ravi Lukha, medical director at Bupa Welcome, Ravi.
Thanks Emma. Great to be here.
So it's estimated that a staggering 15 million people in England are living with a long term condition.
So can you define what a long term condition is?
And maybe provide some examples of those? Sure.
So long term conditions, also known as chronic diseases, are health problems that require ongoing management over a period of years.
They can't currently be cured, but they can be managed by certain therapies or medication.
Now, examples can include high blood pressure, diabetes, arthritis, cancers as well as some lung conditions like asthma and mental health conditions as well, like depression.
So what impact can long term conditions have in the workplace if employees are not supported?
Yeah.
So failure to support employees with long term conditions can have marked negative impacts on employees in the workplace.
So I’ll highlights three here.
Firstly, it's around increased absence due to staff being unable to manage their conditions whilst working.
Next is around high staff turnover, which can also increase in unemployment levels, which we know from the evidence base is bad for individuals health.
Finally, is around low morale in the team in the organisation, potentially due to staff members feeling unable to fulfill the demands of their job.
And these three negative impacts can of course affect the individual employees as well as the organisation and wider society as well.
I think with the low morale thing, if one person's feeling that if they're part of a team, it can quite quickly escalate and then everyone feels the same thing and that can equally have a negative effect on productivity and things like that, would you say?
Absolutely.
I think that's the point, that it can affect the individual.
It can be something that is spread between within the team and ultimately can affect your workplace productivity.
And ultimately, in that case, everybody really suffers.
So it's important that long term conditions are recognised within the workplace.
So what the steps managers can take to support employees with long term conditions?
So there's a number of steps that I'll highlight here, Emma.
So four in particular, firstly, communication is key.
So line managers should be able to recognise any signs of symptoms if people are struggling at work due to any long term conditions and really know where to signpost them for any support.
Now, although policies and procedures are important and I'll touch on on those in a second, what's really important ultimately is having a supportive line manager and they should make sure that they direct people to HR occupational health as well.
So next is around understanding those policies and procedures within your organisation that I just mentioned.
So line managers should understand these, for example, around your sickness absence policy, and that means you can offer a consistent, systematic and fair approach to each individual and really support them within the workplace.
The third is around making the right workplace adjustments.
And this is important because we know that creating the right work environment can be a great step forward in supporting people, not just stay in work but also flourish in work as well.
Employees who have long term conditions may also be covered by certain statutory protection that requires employers to make reasonable workplace adjustments.
So line managers should be aware of these, do make the changes and evaluate them as well.
Finally, it's important that line managers do signpost people to any support if they need it.
So for example, if we talk about stress and mental health, we know that these are two of the leading causes of long term sickness absence in the workplace in the UK.
Now, people might be reluctant to seek any help, but it's important that, as I said, line managers recognise any signs of people struggling at work and do signpost them to any places they can get support.
For example, your Employee Assistance Program or EAP if you have one.
And can healthy behaviours have any impact on long term health conditions?
Yeah, absolutely.
So for most long term conditions, promoting a healthy lifestyle can help to slow down their progression or even treat them.
For example, if you think about diabetes and healthy eating and physical exercise, but we should always be mindful about an individual's medical condition to make sure that they're doing in a safe way along with any medical advice.
So in general, healthy behaviours can can help to prevent long term conditions for the wider workforce.
So they're important from that point of view.
Specific advice I give to line managers towards promoting healthy behaviours at work includes ensuring that they're upskilled to spot any signs of symptoms of people struggling at work and to encourage people to seek help.
If you're having any any internal events to align them with key national campaigns such as Alcohol Awareness Week and do use your Wellbeing champions if you have any, to help spread the word and promote any initiatives that might be available to employees in the workplace.
I think as well on that, it'd be great if you're just one individual as part of a team that has got a long term health condition, you know, maybe getting involved in more team activities to support that person because I think having that encouragement to maybe change some of those behaviours is better achieved if you've got a team of supporters around you, or joining in with you to sort of make those changes as well.
Yeah, absolutely.
I think a good example of that is around mental health and wellbeing and mindfulness.
So I've seen really good examples of mindfulness exercises in over a number of weeks that the teams take part in and really help support some people that are struggling with mental health.
Also help to prevent any ill effects of mental health as well in the workplace.
Thanks so much for joining us today, Ravi.
That was super helpful and really, really interesting.
- 1 National Institutes of Health (NIH), The complete sequence of a human genome, DOI: 10.1126/science.abj6987
- 2 National Human Genome Research Institute, November 2023.
- 3 Genomics England, June 2015.
- 4 National Human Genome Research Institute
- 5 Breast Cancer Org, February 2022
- 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 Genome UK, The future of healthcare, page 29, 2020.
- 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 Nature Human Behaviour, Genetic underpinnings of risky behaviour relate to altered neuroanatomy, DOI: org/10.1038/s41562-020-01027-y
- 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 National Human Genome Research Institute, August 2022.
- 12 National Human Genome Research Institute, January 2022.
