The Generation Study

Where appropriate, there may be a confirmatory test that can establish whether or not the child has the condition. 

It is important that we look for gene changes (called ‘variants’) which can accurately predict that a condition will develop, and that the genome sequencing technology can find these changes. We will only look for changes where we know, to the best of our knowledge, that they will cause a condition (called ‘pathogenic’ or ‘likely pathogenic variants’). 

While we can be confident in the genetic result, it is also important that we incorporate other tests that can help to confirm the diagnosis of a condition where this is available – for example by looking for traces of certain chemicals in a baby’s blood.  

The impact on quality of life should consider factors such as the testimony of patients and families affected including social and environmental factors, and QALYs where available.  

We know from looking at lots of people’s genomes over many years that certain variants in one person’s DNA can make them very ill, but another person can have that exact same variant but be completely healthy – this relates to penetrance. 

This principle means that we will only look for conditions where, to the best of our knowledge, a high proportion of people with certain variants will go on to be very ill. This doesn’t mean there has to be a high total number of people that would go on to become ill; the condition could be very rare. We know it can be challenging to determine what causes a ‘debilitating impact’ on quality of life; as the principle describes we would take into account available evidence including from people with experience of the condition themselves, and measurements such as quality adjusted life years if they are available. 

The intervention would normally be initiated in early childhood (by age 5); and could either cure, delay or modify the course of the condition.  

We’ll only be including conditions that can be more effectively treated, for example by giving a medicine before the baby shows signs of illness. If an intervention would only be relevant or be just as effective after the baby shows symptoms, it’s normally safest to wait until they do. We know that for some rare genetic conditions, the knowledge about an intervention will be limited, but this is where ongoing research can help. 

This principle also focuses us on only including conditions where the intervention would start in childhood, not conditions that might affect the baby when they become an adult. Our view is that if any intervention can wait until the child is old enough to make their own decisions, then they should be given that choice themselves. 

Incorporating input from NHS England and other relevant clinical and commissioning bodies. 

We will only include conditions for which there is a system in place in the NHS to provide all of the ongoing care and support that the child and family will need. We know that creating an equitable and fair system for everybody is a key condition for public support for the Newborn Genomes Programme. 

This means working with groups including representatives with expertise in the specific conditions and from relevant clinical, commissioning, and other bodies, to ensure that children and their families will not be left to deal with the consequences of a rare disease diagnosis on their own.