“I think you always believe it’s never going to happen to me.” That is how one parent described learning that their newborn baby had been identified as being at possible risk of a rare genetic condition through routine newborn screening.
Known as the newborn blood spot test, or heel prick test, this involves taking a small blood sample from a baby’s heel to check whether they may have one of several rare but serious conditions. These are conditions where early treatment can make a major difference.
The test has transformed thousands of children’s lives by identifying serious, treatable conditions before symptoms appear.
But screening also brings challenges. The UK National Screening Committee recommends screening only when the benefits outweigh possible harms, including false alarms, missed cases, treatment that is not needed, uncertain findings and anxiety.
For most families, screening happens during the overwhelming first days of caring for a newborn. Pregnancy scans and routine tests may not have identified any concerns. Research suggests it is not always clear to parents that this screening is designed to identify rare conditions in babies who appear completely healthy.
This is because screening reverses the usual route to finding out that something may be wrong. Typically, symptoms appear first and parents seek medical advice. With newborn screening, the possibility of a serious condition may be raised before symptoms appear. This can make the result feel, as one parent described it, “a complete bolt from the blue”.
Most parents have no family history of the condition identified. They simply do not imagine their baby could be affected. The routine nature of screening can also mask this possibility – it can seem like something “everyone does” for reassurance, rather than something that could bring life-changing news.
Screening is only the start
Many parents expect screening to give simple yes-or-no answers: either everything is normal, or their baby definitely has a condition. In reality, screening is more complex.
A negative result means the condition is not suspected – although in rare cases, this can turn out to be false. A positive result means the baby may have the condition, and further tests are needed.
Screening is the start of a process, rather than a definitive answer. But when parents are told their baby has a positive screening result, they may hear it as a diagnosis, even though further tests are often needed.
Parents can experience intense distress after receiving a positive newborn screening result. Our research has shown that shock, disbelief, denial and anger are common.
The first conversation with healthcare professionals can shape how parents understand what is happening. Studies suggest that who communicates screening results, how they do it, and where the conversation takes place can all strongly influence parents’ early response. For some families, it marks the beginning of a long-term relationship with specialist healthcare teams.
Research we have conducted with parents points to several ways this experience can be improved. Where possible, parents prefer to receive the information together, so both hear the same information at the same time and neither has to relay complex news.
Parents also value hearing from healthcare professionals with expertise in the suspected condition. Although non-specialist clinicians may sometimes be able to deliver results faster, our recent research on attitudes to newborn screening for spinal muscular atrophy found that speaking with someone who can answer immediate questions, explain what happens next and acknowledge uncertainty can help reduce anxiety.
Clinicians, meanwhile, need to give parents enough information to help them understand the result and make decisions, without overwhelming families who are already distressed. Structured approaches to communicating screening results can help clinicians strike this balance.
Spinal muscular atrophy
These communication challenges are becoming more urgent as newborn screening expands. We will explore them further in a new evaluation study focusing on newborn screening for spinal muscular atrophy, known as SMA, in England.
SMA is a rare genetic condition that causes progressive muscle weakness. It affects the nerves that control movement, so babies and children can have difficulty moving, swallowing and breathing. Its most severe infant form, type 1 SMA, was historically often fatal before the age of two without treatment. Today, newer treatments are dramatically improving prospects, especially when started early.
Our study will explore how much information parents want about their child’s screening result, when they want to receive it, and who they would prefer to hear it from. This will help shape how results are communicated if screening is expanded.
Newborn screening remains a vital public health programme, with strong support from parents and healthcare professionals. As screening programmes evolve to include more conditions, communication with families needs the same level of attention as the science behind the tests.
The Generation Study, a research programme led by Genomics England in partnership with NHS England, is exploring newborn genomic screening. This means looking at a baby’s DNA to identify rare conditions that may benefit from early treatment.
The study aims to sequence the genomes of up to 100,000 newborn babies in England, and is looking for changes linked to more than 200 rare genetic conditions.
Parents need to know that newborn screening can bring reassuring results – but that it can also raise difficult possibilities. They need clear information before screening, and careful communication if a result suggests their baby may have a serious condition.
A screening result is more than a laboratory finding. For parents, the first contact with clinicians can be one of the most significant conversations of their lives. How that conversation is handled can shape their early experience of the healthcare system, and the trust they place in it.
Timely, accurate and compassionate communication is essential if newborn screening is to deliver its full promise.
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