Newborn Screening- A Primer with Dr Lucy McKay, CEO of Medics4RareDiseases

Newborn Screening- A Primer with Dr Lucy McKay, CEO of Medics4RareDiseases

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.

Lucy McKay

“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.”

Image depicts the small hand of a newborn held by the hand of an adult

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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Joe Clymer – Supplementing The Medical School Curriculum One Rare Disease at a Time

Joe Clymer – Supplementing The Medical School Curriculum One Rare Disease at a Time

Joe Clymer is a 5th-year medical student. Over the summer of 2023, he completed a 75-hour internship with the Cambridge Rare Disease Network. This internship aimed to identify common problems that families with rare diseases face and create a set of resources to help. Joe describes his inspiration, findings, and future plans in the following blog.


What I did during my internship

I spent about 10 hours speaking to families and reading about common problems. I spent the next 65 hours researching what they told me in detail and drawing on my clinical knowledge to find new solutions.

I have just finished five years of university, encompassing four years of medical school and one year of specialised Emergency medicine (EM) teaching. Before starting at CamRare, I spent my days in the back of ambulances or diagnosing patients in the emergency department. My year in EM was high-octane and exciting and not full of older adults falling over or teenagers with the flu. So why, on my summer off, did I make the change to work with a rare disease charity? The short answer is that I believed in what they wanted to achieve. The long answer is to read the rest of this blog.

Image shows a young male with light brown hair raising his hand 'hello' and dressed in a diving suit.

Why I chose CamRare

I started at Keele University at the age of 18. I was fortunate to get in first time due to my preparation, dedication to medicine and a healthy amount of luck. When I arrived, I thought I knew I had to learn the science and treat patients. How wrong I was. As I later learned, good medicine is about holistically treating the individual, not the disease. It’s about biology, psychology and sociology. I also learned how societal inequalities, like race and wealth, affect health outcomes.

Let me give you an example. In Stoke on Trent, the city I trained in, there is an 8-year difference in life expectancy between the rich and the poor: same city, GPs, and NHS services. The only difference is finance. Throughout medical school, I became more aware that these differences exist. I came across the CamRare internship, and by working with them, we aimed to provide free information to help make healthcare more equitable.

CamRare has a community called the Unique Feet (UF) Community. They are a group of families whose children have rare diseases and do fun activities together so their children can have a more normal life. My job was interviewing parents, finding out their financial and social problems, and working with the community to find solutions. I have made a resources page on different ways to get funding for children with rare diseases, which may directly benefit their children’s care. I learned in medical school that social and psychological factors are as important as medical treatment in managing chronic diseases. CamRare is a charity that recognises this and is working to assist.

As a medical student, I have a very narrow skill set, including communication skills, empathy, and an understanding of science. I possess a strong and thorough comprehension of the shortcomings of the NHS. Fortunately, these skills meant I was perfect for this internship. Our NHS is excellent at providing life-saving care but is less excellent at providing long-term care to patients with chronic diseases; try getting a GP appointment. I understand rare diseases and the NHS, so I was ideally placed to discuss problems and potential solutions around health and social care.

I also chose to work with CamRare because of their amazing work for parents and families with rare diseases. The Unique Feet project, described below, provides a community and care for people who would otherwise be isolated. But unlike most charities, CamRare doesn’t just do one thing; they also invest in raising awareness amongst doctors and research, putting patients in direct contact with industry and hosting an annual research summit to discuss ideas.

Who are the Unique Feet (UF) community

Since its birth in 2016, community and problem-solving have been at the group’s core. Mums meet for coffee, and parents share information about the benefits of child genetic testing by exchanging consultants’ phone numbers. (I’m unsure how the consultants feel about this, but if children didn’t wait six months for basic tests, their parents might be more patient). Suppose you have a problem with your child’s rare disease. Who better to ask than a group who’ve been through this before? Helping each other is at this group’s core, so I had no trouble getting interviews with these busy parents so they could help me type up their knowledge for the website.

CamRare is a particularly good support group because rare diseases aren’t that rare. 1/17 people will have a rare disease, with most starting in childhood. But if only five people in the country have the same disease, and you have no idea where they are, where do you go for support? The UF team arrange 2-6 activities a month for families with rare and undiagnosed diseases. With children and parents coming and mixing, it turned into a support group over the years. Parents shared stories about their problems, and others listened and gave advice. New parents joining had new problems discussed informally whilst climbing and pond dipping, and together, a community was built that advised and helped each other.

To further develop this community, siblings come to activities. It can be challenging for siblings of disabled children; they often get less attention and have more responsibility. At UF, children with and without disabilities play and interact together, and the parents love it because their children can be children in a free, non-judgmental space. What started as play for children has turned into a supportive community that is irreplaceable for parents.


Parenting a child with a rare disease is difficult. Many parents say they have felt isolated and question their parenting ability. But by attending events and speaking to other parents in the same position, the supportive community helps to listen and get through situations they have all gone through. I decided to look into support for parents and used quotes from our UF members to signpost parents to mental health services. It’s hard to accept support, but hopefully, by formalising it online so people know that others have gone through the same things, parents will be more likely to reach out.

What I learned

My first job was to sit down and interview the parents in the UF community. They would tell me the common challenges they faced and how they solved them. I would then take this information, read around the subject, and present it as a fact sheet on the website. These interviews were tough. I asked them to discuss their feeling about the worst days of their lives. We discussed mental health and the fear of not knowing if your child would survive. In my 8 hours of interviews, I saw what it might be like caring for these children and developed a deep admiration for the parents I spoke to. They’d battled through a difficult school system, nightmare social services visits, long delays on appointments, difficult-to-understand doctors and a sheer volume of hospital appointments that the best secretaries in the world would struggle to keep up with.

All of this went on for years, yet every one of them had volunteered their own time in their busy lives to sit and talk to me so I could share their information and perhaps make things easier for the next family; I believe that is the mark of a community that cares. The parents taught me a lot, and with their knowledge, I could move forward to researching their problems.

These interviews gave me invaluable exposure to rare diseases. Rare diseases often present complex medical challenges, and these interviews exposed me to a diverse range of conditions. This exposure helps broaden my diagnostic and problem-solving skills, as I have encountered conditions not covered extensively in my medical curriculum.

I also developed my communication skills. Families face unique emotional and psychological burdens due to the rarity of the condition and the challenges in obtaining accurate diagnoses and appropriate treatments. Interacting with these families enhanced my ability to communicate with empathy and sensitivity, skills that are crucial for all medical professionals. I was most grateful for the openness and honesty the UF families gave me.

From the interviews, I identified six topics parents would like more information on and set about gathering information on them. One area that didn’t make it in but deserves an honourable mention was the theme of fighting. All the parents emphasised the importance of fighting for their child’s needs. I heard many stories about appealing educational health care plans and disabled living allowances. These parents pointed out that these benefits and support are out there but not easy to find, and it can be hard to get what you deserve.

“Whilst researching solutions to common problems, I realised rare diseases often lack established treatment protocols, and I saw the importance of understanding the needs of UF community. It made me reflect on how far we still have to go in modern medicine to design a system that is equitable to all. I also realised how important industry investment and research into rare diseases is to finding treatment for these diseases.”

My future

CamRARE offered me an amazing experience to engage thoroughly and understand rare diseases, and it’s one that I shall carry into my medical career. Beyond clinical skills, I believe it nurtured empathy, research acumen, advocacy skills, and a profound interest in the rare community. These benefits will help me shape into a well-rounded, compassionate, and proactive medical professional who is now better prepared to address the unique challenges presented by rare diseases and make a meaningful difference in the lives of patients and their families. This internship exposed me to diverse perspectives and challenged me to confront medical uncertainties. Dealing with rare diseases teaches humility, resilience, and adaptability, essential in a medical career. It made me think about the challenges facing the provision of equitable care to a wide range of patients and their families.

I have learned many practical skills. I have learned about benefits, housing, genetic testing and education for disabled children. I have been involved in web design and building wireframes. I have been free to work independently under a boss who has trusted me to guide my project, and I have delivered on time. But most of all, I have been part of a project I believe in. Health is made up of biological, psychological and social components.

I have worked with CamRare and their community to build resources to address psychological and social support for families that need them. And if I’m a halfway decent doctor, I think I should have the biological bit sorted. 

Image shows a young male with light facial hair dressed in a protective red suit in a hospital setting. He is smiling.