What Happens When We Know Every Child’s Genome?

Genetic screening could re-invent medicine, but not without huge ethical implications

Imagine being able to screen an embryo’s DNA and predict the likelihood of developing disease, such as diabetes or schizophrenia. Wes Streeting was quick to share The Telegraph’s headline this week: ‘DNA tests for every baby on the NHS’. DNA technology has been knocking on the door of health innovation for some time and finally, it looks like it has arrived in the NHS.

This marks a huge cultural shift in practice. Currently, when babies are born, the heel prick test screens for nine rare conditions using biochemical markers. The new plan will see all newborns in England undergo DNA screening, not for chemical markers but to analyse the genetic code and identify fatal diseases.

The aim is to use genomic data, interpreted through AI, to predict and prevent illness before it becomes a burden. This programme, led by Genomics England, has already sequenced 100,000 genomes and returned results. Genomics England reports that 18.5% of data from the project turned into actionable findings.

Predictive Power

Any narrative suggesting DNA is a deterministic code that can prophesy the future is misleading. Some variants are linked to disease, but geneticists can only comment on those already associated with known conditions. There are countless variants of uncertain significance (VUS) that will inevitably be linked to disease—but currently escape our 21st century understanding. This project may, perhaps, help illuminate some of those gaps.

So what undermines DNA’s predictive value? Diseases often have incomplete penetrance, variable expressivity, and are heavily shaped by environmental factors.

Incomplete penetrance refers to when individuals carry a mutation but don’t express the associated disease or trait. We see this with the BRCA1 gene, which increases the risk of breast and ovarian cancer, though not all carriers develop disease.

Additionally, the interplay between genes and environment is vital for disease manifestation. Here’s a thought… have you ever considered how knowledge of genetic susceptibility might affect behaviour? If you knew your genes conferred a higher risk of diabetes, could that lead to lifestyle changes? Fewer takeaways and more activity?

The Ethical Minefield

Make no mistake about it, access to genetic information will save lives and reduce suffering. It will deepen our understanding of genetics, a foundational pillar of medical science. But the ethical terrain is incredibly complex, and the On-Call team feel nervous approaching it.

This programme, from current reports, isn’t targeted based on family history or symptoms. It’s universal screening of babies’ genomes before they can consent. Few would dispute that telling parents their child has an incurable condition creates anxiety and suffering that may not be worth the trade-off (though some, reasoning through a cold ethical calculation, may argue the long-term scientific gain in knowledge justifies it).

Perhaps the scheme should report only on a predefined panel of conditions where early treatment significantly improves outcomes. But even defining what makes a disease “treatable” raises difficult questions.

Regardless of the reporting scope, patients will know the data exists. Once sequenced, a genome can’t be un-sequenced. Doctors, geneticists, and academics will carry the moral burden of knowing more than they can act on.

And patients? If they know data is being withheld, perhaps because the condition is untreatable, what’s to stop them demanding it and passing it to a third party for interpretation? This would only lead to the creation of a two-tier system where those with the financial means have greater knowledge of their health.

The Slippery Slope to Discrimination

The most common fear that populates headlines and social media feeds is the misuse of this genetic data. You are never too far from a reference to 1984 when some mention of data acquisition for ‘the greater good’ is made - Can we call this Orwell’s Law?

But this concern deserves to be taken seriously. In philosophy, a slippery slope argument is when a proposition is rejected because the arguer believes it will lead to a chain reaction that ends up with an undesirable end.

The results of genetic tests will greatly affect insurance policies for example. In the UK, insurers cannot ask you to take a genetic test but they can ask for results of a test already taken. If genetic testing becomes widespread, it may be incredibly difficult to keep this information away from insurers.

And it may not just be insurers who may be after this data. Genomic data is akin to your identity. The acquisition of this information creates a layer of vulnerability that understandably makes many nervous.

And yet despite all this, it may be terse to ignore what this technology may be able to bring. Identification of say spinal muscle atrophy at a pre-symptomatic stage can significantly improve outcomes and slow the progression of disease.

This debate is complex, but at the same time fascinating. Science is re-moulding healthcare, shifting where medicine begins, but that won’t come without risk and ethical questions.

“Is £145,000 a year a bad salary?”

“Is £145,000 a year a bad salary?” That was the question LBC’s Nick Ferrari repeatedly put to the BMA’s Dr Mike Henley this week. The figure appears to refer to average full-time NHS earnings rather than basic pay, according to a recent Nuffield Trust report. If Mr. Ferrari wants an answer to his reductionist question, it’s this: No - £145,000 a year is not a bad salary. It puts you well inside the top 2% of earners nationally. The top 1% threshold is £160,000, as per the IFS. Around 310,000 people fall into that top 1% bracket, many of them NHS consultants.

But the reason why the question is reductionist is that it strips out all the nuance and context needed. Setting aside Mr Ferrari’s own substantial salary for the sake of debate, here are some points to remember when framing a response:

1. Once national insurance and income tax deductions are made (discounting student loan contributions that will hit our newly qualified consultants too), £145,000 suddenly becomes £88,636.

   This includes the dreaded 60% marginal tax trap where between £100,000 and £125,000 you pay a marginal rate of 60% income tax. Fiscal drag through frozen income tax thresholds have drawn more of our colleagues into this trap as wages have risen with inflation.

2. For free-market advocates, the US provides a useful benchmark for what the market might value doctors’ pay at. Of course, (most) Britons support the principles of a socialised healthcare system and don’t expect US-level salaries. Still, it is raised as a helpful reference point for free-marketers when assessing how much an NHS consultant is ‘worth’.

3. Consultant pay erosion stands at 26% from 2008 in real terms.

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Should I Leave The NHS Pension?

The showdown between the NHS and private pensions

For some, it’s not easy to see the size of the pension contribution payments being taken off their payslip. In the NHS, your rate of pension contribution increases with your income, starting from around 8.3% as an F1 and rising to 12.5% from ST6 onwards. These are meaningful figures.

However, the true cost to you is lower than it appears because of the tax benefits on pension contributions. Remember that when you contribute to a pension, you do so from your pre-tax income and therefore you save on the income tax you would have otherwise paid on that money. This becomes an incredibly powerful tool for those paying higher rates of income tax.

NHS vs Non-NHS Pension

One of the most important decisions we will ever make is how to prepare for retirement. Put simply, you need some form of plan. Those wanting to remove themselves from the NHS pension scheme need an alternative. Let’s explore what those alternatives may look like and compare them to the NHS pension. The On-Call team are going to assume you are familiar with the workings of the NHS pension - if you aren’t here’s a link to a previous article.

Some may want to opt out of the NHS pension thinking they can get better return on their money elsewhere. You may remember that your NHS pension benefits grow annually by 1.5% + inflation. Looking at these numbers, one may feel that they could achieve more than this elsewhere through a stocks and shares ISA (S+S ISA) or a Lifetime ISA (LISA) account.

For those who are clued up, they may realise that pension contributions bring tax relief and instead of opening up a Stocks and Shares ISA or LISA, they may opt for a Self Invested Personal Pension (SIPP) instead.

We can categorise all these other options as Non-NHS pension strategies.

What you need to understand is that there is a no ‘final pot of money’ in an NHS pension. It is a Defined Benefits (DB) scheme. This means it doesn’t rely on market performance or an accumulated savings in a “pot.” Instead, it guarantees an annual inflation-linked income for life, based on your pensionable earnings and years of contribution.

So here’s the key bit, you get a secure income every year from retirement until death regardless of how long that may be. We live in a time where people live longer than they ever have before and as a result, they are significantly underestimating how much they need to fund a retirement that lasts over 25 years.

If you were to take your NHS pension contributions, remove it and put it inside a stocks and shares ISA or SIPP, you may not have accrued enough, in real terms, to rely on that ‘final pot’ for the best part of 30 years in retirement.

Couldn’t Forget Inflation Could We?

What about inflation? We can rely on averages, but inflation is a moving target and has ranged from 0.4% to 8% in the last 40 years. If inflation skyrockets, then it destroys the Non-NHS pension methods. You would have to rely on your investments beating inflation and generating the additional return to give you the pension pot growth you need.

By comparison, the NHS pension continues to grow above inflation (measured by CPI) by 1.5%, regardless of what inflation is doing. The NHS pension also doesn’t suffer the risk of a prolonged market downturn, it will continue to grow regardless of market performance.

The ‘Control’ Illusion?

Control is often heralded as a great thing in finance. Knowing where your money is going and having the ability to change that location is seen by many as a benefit - is this necessarily the case here?

Our Non-NHS pension friends will constantly have to evaluate which funds their money may be best placed in. This decision not only comes with additional responsibility, but it is subject to emotional risk. You will have to confront the natural urge to tinker and sell off assets in response to market uncertainty and headlines. Even a seasoned investor, who knows the historic success of investing in low-cost global index funds, can be subjected to the urge of stock picking and reacting emotionally to the media noise.

In contrast, The NHS pension is largely out of our control, it takes the decisions out of our hands, allowing us to focus our attention on other areas in life, be it family, job or whatever else happens to be of importance in your life. Control may bring the feeling of stability, but sometimes automating financial decisions is not a bad thing.

If you are still uncertain on whether to opt out or stay in, independent financial advisors are there to guide you through the decision, especially for those who need to consider other factors such as the desire to move abroad or retire significantly early. The NHS pension can be one of the most significant wealth building tools that we have as doctors and considerations to opt out should be based on seriously informed financial planning.

“The Less-than-full time gig is becoming more common. The proportion of NHS acute medicine consultants working less than full-time rose from 15.6% in 2012 to 21.6% in 2021.”

“I’ll buy everyone in the BMA a beer if one person manages to get the rate of an FY1 on the new BMA London Rate Card”

“Listen, I know everyone’s speciality has its tough moments, but future obstetrics trainees should know it’s a speciality where timely, good decisions matter. A misinterpreted CTG can only an hour later lead to disastrous outcomes. Timely senior decisions keep our speciality going”

“That’s why I document it as ‘await X’ rather than ‘chase X’ - It shows the reader that I’m aware that there are results outstanding that might change my plan, without compelling the poor F2 to waste their time and the lab’s time calling for results that will be ready when they are ready”

What’s on your mind? Email us!

Some things to review when you’re off the ward…

This week, GP’s in England will be allowed to prescribe the weight loss jab, Mounjaro, but only under strict criteria such as having a BMI over 40 and four out of five key conditions such as type 2 diabetes and hypertension.

The BMA announced a proposal to create a new register for doctors as a way of showing the lack of confidence in the GMC following their decision to regulate physician associates.

The NHS will aim to reduce new hires of overseas-trained doctors from 34% to below 10% by 2035. This policy shift responds to growing concerns of underemployment among UK-trained medics and aims to boost long-term workforce self‑sufficiency.

Weekly Poll

Last week’s poll:

Should patients be fined for missed appointments?

…and whilst you’re here, can we please take a quick history from you?

Something you’d like to know in our next poll? Let us know!

The Cost of Not Knowing: How Uncertainty Upholds Private Medicine

A third of Scottish households report having used private healthcare in the past two years. The main driver causing patients to lean on the private sector is waiting times. Almost a quarter of Scots on treatment waiting lists had been queuing for over a year.

We tend to live our lives blissfully unaware of ‘disease’ and ‘poor health’ until it comes knocking on our door. When we are confronted with pathology, it can very easily consume the mind. Suddenly, mundane routines - the drive to work, conversations with the neighbour and errands are all interrupted by thoughts of ill-health.

In these moments, people respond differently to waiting scenarios. We know that it’s uncertainty that gets to people. People are generally more satisfied with a wait they know will take 30 minutes than with an uncertain wait that ends up taking only 20. This partly explains the success of Uber, which aims to eliminate all uncertainty by showing you exactly where your driver is located.

Uncertainty eats away at the mind. So when the NHS cannot provide clear timelines, it should be no surprise that those with the means to do so will seek quicker answers. Often private healthcare is not about luxury care, but about more timely answers.