What is Newborn Screening? Who is screened, and for which conditions? What is screening’s role in the wider provision of care for rare diseases? Among a panel of people with different expertise, Lucy will facilitate a diversely informed discussion centring around the UK Newborn Screening Programme at RAREsummit23. As Lucy explains, this NHS service is available to everyone in the UK and has a very high uptake from the general population. However, outside of specific arenas, it is seldom talked about.
Dr Lucy McKay
I sat down with Dr Lucy McKay, CEO of Medics4RareDiseases, to talk about her journey into the rare disease community and about Newborn Screening. Having spent a significant portion of her years as a junior doctor in a Paediatric setting, Lucy has hands-on experience with the Newborn Screening process in the UK. Lucy also has a dual perspective on Newborn Screening, having grown up alongside a patient group that she then went on to volunteer and work for in a number of roles. Lucy’s brother died before she was born because of a rare genetic metabolic condition which now has a treatment but is still not screened for in newborns.
What is Newborn Screening? Who is screened, and for which conditions? What is screening’s role in the wider provision of care for rare diseases? Among a panel of people with different expertise, Lucy will facilitate a diversely informed discussion centring around the UK Newborn Screening Programme at RAREsummit23. As Lucy explains, this NHS service is available to everyone in the UK and has a very high uptake from the general population. However, outside of specific arenas, it is seldom talked about, especially in comparison to topics such as whole genome sequencing or approval of medications for rare diseases.
The following write-up of our conversation acts as a primer for those attending the panel discussion, generating reflections, emotions, and questions to bring to the table.
“It is time for Newborn Screening to be examined in a more open forum, in a transparent dialogue with the larger rare disease community and beyond. Are we all talking about the same thing, or is there an assumed level of knowledge, and we need to bring more people into the discussions?”
Newborn Screening in the UK
When people talk about “newborn screening”, they are more often than not referring to the Blood Spot Test (or Guthrie Test) which is offered to all neonates on the fifth day of life. The Blood Spot Test is just one of a number of screening tests that are performed at birth as part of the larger NHS Newborn Screening Programme.
Lucy explained that, simply put, screening is a way to identify when an apparently asymptomatic individual may be at risk of a specific condition. Despite its name, it is not a test as such because it does not serve to diagnose a disease. Rather,it indicates if a condition may be present before a person expresses any symptoms. It is helpful to think of it as the beginning step on a pathway to diagnosis if the result indicates that a specific condition may be present. In neonates, the Blood Spot Test is one of three screening tests included in the Newborn Screening Programme, alongside a hearing test, and a physical examination.
Early on, Lucy raised the concern that a lot of attention is paid to only this element of the Newborn Screening Programme. Having performed countless “baby checks” in a post-natal department she believes that the physical examination could be seen as one of the earliest opportunities to pick up early signs of an underlying condition. Especially as the physical examination is then repeated in infancy at 6-8 weeks of age so follow up is already built into the NHS system.
Parents and legal guardians provide consent for newborn screening and uptake of the Programme is approximately 96% of all births. The Blood Spot Test involves taking a small blood sample from the soft part of the heel of the foot. The healthcare professional will prick the neonate’s heel with a lancet similar to those used for blood glucose tests. They will then transfer four drops of blood ontoa special card, called a blood spot card. The healthcare professional must be well-trained in performing the procedure because there are specific regulations on the size and density of the blood drop.
In the UK neonates are screened for nine rare genetic conditions, including Sickle Cell Disease, Cystic Fibrosis, Congenital Hypothyroidism, some Inherited Metabolic Diseases, and Severe Combined Immunodeficiency. Most babies won’t have a positive screening result for any of these conditions, but for those who do the benefits of screening can be enormous. Screening allows for prompt follow up with diagnostic tests ensuring that these diseases are identified early. This is vitally important for those conditions which have the best outcome if they are treated or appropriately managed before the child shows any symptoms.
Lucy described one benefit of screening for rare genetic conditions through the Newborn Screening Programme:
“Screening provides a unique avenue into inclusive healthcare because it is not subject to human factors. No matter your socioeconomic background, the language you speak, the area you live in, your baby will be offered the Newborn Screening.
As Newborn Screening has an exceptionally high uptake rate for those conditions, included diagnosis is far less likely to be influenced by social and health inequalities. This is not only beneficial for patients and families but for designing healthcare services and treatments based on knowledge of the real patient population, not just those we know about.”
Starting the Conversation
However, the concept and process of newborn screening is not without its challenges. One challenge has become increasingly pressing: due to 20 years of health science innovation we are able to diagnose and treat many more rare conditions than are currently being screened for. Therefore the field of rare genetic conditions has changed dramatically in a relatively short period of time and NHS services, including the Newborn Screening Programme could be seen as having to play catch up in a recently difficult health and economic climate.
It is important that the general public understands what the purpose of newborn screening is, what data is collected, and how it will be used, in order to give informed consent on behalf of a child. However unless you have been impacted by a rare condition yourself or through a loved one it may be difficult to fully grasp what the implication of screening, and especially a positive result will be.
Then there are those who have a deep understanding of what the implications are of not screening for certain diseases – those who live with, care for someone or have lost someone to such a condition. With knowledge of the perils of late diagnosis when treatment it is only natural that groups are asking about how different conditions are considered for inclusion in the Blood Spot Test.
“I have seen firsthand the potential of new therapies to transform an individual’s life. However, we have to ask ourselves: why invest huge efforts and money on treatments, which can make a life-saving or life-changing difference to the lives of those with rare diseases if we are not optimising the delivery of them through screening?”
We hope you will join Lucy at RareSummit23, and the rest of the panel, to learn about the basics of Newborn Screening in the UK and hear the perspectives from different experts on this much talked about (but not universally well understood) subject.
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