The National Health Service (NHS) in England recently addressed the commissioning policy regarding Pre-implantation Genetic Testing for monogenic disorders (PGTM) for embryos at significant risk of serious genetic conditions. This blog post aims to dissect and discuss the key aspects of this policy suggestion, shedding light on its implications for individuals and families facing the complex decisions associated with genetic conditions. Don't worry if that sounds confusing; we're here to break it down in simple terms.

What is Pre-implantation Genetic Testing (PGTM)?

Imagine you want to have a baby, but you're worried about passing on a known genetic condition that runs in your family to your child. PGTM is a technique used in conjunction with in vitro fertilisation (IVF) to identify genetic anomalies in embryos created through the procedure. This testing is particularly relevant for individuals who either have or carry a serious genetic condition, aiming to prevent passing it on to their children. The process involves checking IVF embryos for the presence of the specific genetic condition, and only those found not to have inherited the condition are transferred into the female for potential pregnancy.

The Human Fertilisation and Embryology Authority (HFEA) regulates fertility treatment and research using human embryos, approving over 600 genetic conditions for PGTM in the UK. Approval is contingent on the condition having a 'significant risk' that a child born with it would experience a 'serious' medical condition, considering factors such as age of onset, life-limiting nature, and the availability of treatment.

What did NHS England Suggest?

NHS England looked at the evidence and despite recognising the efficacy of PGTM, the suggestion was that, for now, they will not be funding PGT for couples at significant risk of having a baby with serious genetic conditions. In fact, the decision was actually made and was part of a careful consideration of relative priorities for funding interventions in 2023/24. However, due to severe backlash on this policy, it seems that they have withdrawn it on the same day they suggested this shift.

Options for Parents at Risk:

Individuals at risk of having children affected by a genetic condition have various reproductive choices, including:

1. Not having more children: Some people decide not to have more kids.

2. Adoption: You can choose to adopt a child.

3. Gamete donation: This involves using someone else's eggs or sperm to have a baby.

4. Taking a chance naturally: Some might choose to have a baby naturally and accept the risk.

5. Prenatal tests: If already pregnant, there are tests during pregnancy to check for health problems.

6. Pre-implantation Genetic Testing (PGT): This is the special test we talked about earlier. It helps you have a healthy baby without ending a pregnancy.

Why Did NHS England Decide This before potentially making a U-turn?

Even though there's proof that PGTM works, NHS England had to decide where to spend their money. They looked at many important things and decided not to fund this test for now. Things might change in the future as they learn more. Here is a list of the main reasons why NHS decided to not fund PGT:

1. Balancing Priorities: NHS England has a limited budget, and they have to make tough decisions about where to spend the money to provide the best overall healthcare for everyone. They looked at all the different medical treatments and interventions that they could fund, and they had to figure out which ones were the most important.

2. Relative Prioritisation Process: In July 2023, NHS England did a careful review and prioritisation process for funding interventions in the upcoming year (2023/24). They had to compare PGT with other health priorities to see which ones were more urgent or critical. It's like having a budget for your household – you need to decide if you'll spend more on groceries or save for something else.

3. Limited Resources: Even though PGT has been proven to work and help families avoid passing serious genetic conditions to their children, there's only so much money to go around. NHS England might have seen other pressing health needs that needed attention and funding.

4. Changing Circumstances: Healthcare is always evolving. What's important today might change tomorrow as new treatments and technologies come up. NHS England made the decision based on the information and priorities they had at that specific time. They might revisit this decision in the future as more evidence or new treatments emerge.

5. Fairness and Equity: NHS England is committed to being fair and making sure everyone has equal access to healthcare. They considered how funding PGT might impact other services and if it would benefit a large number of people. It's about trying to provide the best care for everyone while being mindful of the resources available.

In essence, the suggestion not to fund PGT at this time is a result of a complex balancing act, where NHS England is trying to provide the most effective and “fair” healthcare services for the whole community with the resources they have. Granted it's a challenging task, and decisions like these are made with the intention of achieving the best overall health outcomes for everyone, but this clearly deprioritises fertility treatment for the NHS and shows the lack of support they were willing to give people suffering from a specific case of infertility. Due to the severe backlash on this policy, luckily, the document was withdrawn.

How Many People Use PGTM?

Data from the HFEA indicates a steady increase in patient utilisation of PGT, with 620 patients undertaking the procedure in 2019. The utilisation rate of PGT is estimated at 11 per million of the population in England in 2019.

Conclusion

To conclude, as the NHS England policy on PGT evolves, individuals facing the challenges of serious genetic conditions must navigate a complex landscape of reproductive choices. The suggestion not to fund PGT at this time reflects a prioritisation process, highlighting the need for ongoing discussions about the intersection of reproductive technologies, ethics, and healthcare priorities.

For now, this failed attempt to defund fertility treatment is not going through it seems, however, our fear is that this shows that they have their crosshairs on an already defunded fertility treatment provision as policymakers clearly believe there are more pressing things to prioritise than having a healthy family. If you or someone you know is thinking about having a baby and there might be a risk of health problems, it can feel like a puzzle. It's important to keep talking about it. Learn about what's happening and choose what's best for you and your family. Remember, your choices about having a family are like picking different paths on a big map. Stay in the loop, learn what you can, and decide what fits with your feelings and your family's individual needs and circumstances.

Maria Banti

References

Clinical Commissioning Policy Pre-implantation Genetic Testing of embryos at significant risk of serious genetic conditions [URN 2122]: https://www.england.nhs.uk/wp-content/uploads/2023/11/2122-ccp-pre-implantation-genetic-testing.pdf

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