Pediatric innovation: identifying and diagnosing rare diseases
Recently, I had the opportunity to meet and interview Dr. Natasha Shur, a medical geneticist at Children’s National Hospital, who’s working to innovate pediatric growth screening for improved early identification and diagnosis of rare diseases.
Before the interview, I wanted to provide some high-level context on the rare disease market size and total economic burden.
Rare Disease Market Size:
In 2020, the Global Rare Disease Market was $161.4 billion, growing at a CAGR of 13.1% and estimated to be $547.5 billion by 2030. Source: GlobeNewswire
According to The National Economic Burden of Rare Disease Study, published in 2021, it is estimated there are more than 7,000 rare diseases affecting 30 million Americans and that half, 15 million are children.
Estimated Economic Burden of Rare Disease:
The National Economic Burden of Rare Disease Study estimates in 2019 the overall economic burden of rare disease is $966 billion: $418 billion in direct medical costs, with children having a higher per person direct medical cost, and $548 billion in indirect and non-medical costs.
The findings in this study “demonstrate that the rare disease community has a significant unmet need with tremendous public health impact, one that requires urgent support to advance research and development of resources for prevention, management, and ultimately, cures of these often devastating diseases.” Source: National Economic Burden of Rare Disease Study
With nearly a $1 trillion total economic burden, rare disease presents a massive opportunity area for innovation, identifying new ways to help improve care and treatment of rare disease.
In this interview article, we’ll identify an area of innovation for early identification and diagnosis of rare disease.
Q&A with Natasha Shur, MD medical geneticist at the Rare Disease Institute, Children’s National.
Thank you Dr. Shur for the opportunity to interview you and learn about the work you are doing to help identify and diagnose children earlier with rare disease. Appreciate the innovative work you’re doing for this special cause.
Ok, let’s dive in!
Q: Why are you focusing on pediatric growth screening as a method for early identification of rare diseases?
In terms of background, babies grow the most in the first 6 months of life, a critical time in a child’s development to maximize potential. The first months of a baby’s life are important for neurodevelopment and make a lifelong difference. In babies, growth is dependent on 3 basic building blocks:
- Proper nutrition
- Medical health
- Love and care
If any of these building blocks are missing, growth can be impacted. Identifying the cause can in turn help determine the right treatment and improve early intervention. In pediatrics, routine growth screening is performed many times between ages 0–2 years of age. In the United States, it is recommended to have 11 pediatric visits in the first 2 years of life, and during these visits, height, weight, and head circumference is measured. These measurements take a lot of time and resources, and there has been previous concern that the data is not always optimally used or communicated well to families, which is discussed in this New York Times article, The Trouble With Growth Charts. Our goal is to reconsider the way that we perform routine growth screening to identify more children with genetic and other medical problems but also in general to communicate better with families.
Q: Today, what is the average age of a child diagnosed with a genetic syndrome?
Currently, the average age of diagnosis of a genetic syndrome can be between 2.5 - 5 years of age. But the goal is to shorten this timeframe to get to diagnosis earlier.
Q: How many children have growth concerns that are serious?
The exact number of babies with problems with their physical growth is not known and can vary depending on the population and location. However, some estimates suggest that around 1 in every 10 babies born worldwide have some form of growth disorder. This includes conditions such as malnutrition, genetic disorders, and hormone deficiencies. Additionally, prematurity and low birth weight are also common causes of growth problems in babies.
It’s important to note that growth disorders can have serious health consequences if not properly diagnosed and treated. With 3.6 million births in the US alone, we estimate 360,000 babies with growth concerns.
The goal of reconsidering ways we perform routine growth screening is to improve appropriate triage and referral and attention to children with real medical problems or other concerns. Out of the 360,000, around 36,000 are most pressing for immediate need for referral and our goal is to work with multidisciplinary teams of pediatric providers to help identify and triage those children.
Q: Where are you seeing gaps in identifying growth concerns?
As part of our research, we’ve identified gaps in prioritizing children and consistently identifying children whose overall growth patterns raise particular concerns for genetic, neurologic and endocrine disorders.
When children have a genetic diagnosis, there are often special growth curves available for the particular syndrome. For example, there are special growth curves available for Down syndrome, Turner syndrome, Williams syndrome, achondroplasia, Prader-Willi syndrome, Russel-Silver syndrome, and a variety of other genetic disorders where growth is impacted.
However, these growth curves are not always easily accessible in electronic health records. Some electronic medical records have the curves automatically available, while other electronic medical records do not. The paper versions are not always in pediatric clinics.
In addition, these special curves are often based on very small populations of patients from homogenous populations based on small studies. Therefore, many children whose growth is impacted by particular disorders do not uniformly receive proper growth follow-up on the correct growth curve.
Q: Why is it a concern if children are not plotted or analyzed on a particular growth curve?
The problem is that sometimes when there is an additional problem that impacts the child’s growth (such as hypothyroidism), the syndrome can be erroneously blamed. It is called “diagnostic overshadowing”when every problem is dismissed as just part of the syndrome. While some problems are indeed part of a particular syndrome, other additional medical problems might be in addition or as a result of the syndrome but actually treatable, such as hypothyroidism. Therefore, dismissing a change in growth or low growth as just part of a syndrome without doing proper analysis can be a problem.
Better growth analysis with clear evidence-based algorithms and improved comparisons with each syndrome can help clarify when growth changes are truly concerning or more typical for a given condition. In addition, by recognizing particular growth patterns and growth signatures for particular genetic diseases, growth analysis can help improve early diagnosis of syndromes. For example, if a child has signs of a certain genetic disorder, like Prader-Willi syndrome, and that child also follows the typical growth pattern for the syndrome, this makes the diagnosis more likely.
Better growth analysis in addition to a good physical examination, family history, developmental history, and consideration of the overall child’s story can be integrated to understand the child as a whole.
Q: What are ways that routine growth screening could be improved?
We recently published a paper in the American Journal of Medical Genetics on: The past, present, and future of child growth monitoring: A review and primer for clinical genetics — PubMed (nih.gov).
In the paper we discussed why routine growth screening should be improved, particularly for children with rare disorders, for earlier diagnosis and treatment.
While most parents think that blue and pink growth curves have always been around, it is surprising to realize that their use only became standard of care in 1977 when the National Center for Health Statistics (NCHS) adopted the growth curve as a clinical tool for health. In addition, in the last several decades, there have been many improvements but there has been limited innovation and change in the way that measurements in pediatrics are obtained and analyzed.
We believe that routine growth screening can be done more uniformly with better risk stratification so providers can instantly focus on these children with the highest level of concern.
- Measurements could be more accurate, particularly in length and head circumference.
- Uniform interpretation of growth patterns and interval velocity could be better and faster to instantly understand which children have higher risk of growth concerns.
- Clear communication to families and caregivers regarding children’s growth could be more understandable and instant. Routine growth screening is one of the few screens in pediatrics where unlike in vision or hearing screens, there is not always a clear report or outcome measure.
- Identifying children who truly need more evaluation and specialty referral.
Overall, improved growth screening can lead to better health outcomes and a higher quality of life for individuals.
Q: With the work you’re doing, how are you creating awareness and education?
At Children’s National, along with the Rare Disease Institute, and at the Sheik Sayed Institute, we have focused on technological innovation to improve general education about genetics with a variety of topics. For example, the Rare Disease Institute along with Dr. Kevin Cleary and his team in innovation made an app called Gene Clips: GeneClips on the App Store that features educational videos about genetic topics and genetic testing with short explanations.
Q: Do you see any disparities of care in underserved communities?
We have seen disparity of care where some communities are underserved. Because of this, we have worked with local and national organizations to raise community awareness about referrals to genetics clinics. Along with Barbara Harrison, a genetic counselor at Howard, I had the opportunity to co-lead a DC committee to improve access to genetics in partnership with the New York Mid-Atlantic Caribbean Regional Genetics Network (NYMAC) and Advocates for Justice and Education Inc. Our project resulted in videos to spread awareness about the role of genetics clinics, featuring families.
Q: What is the future opportunity for growth screening?
Our team sees an opportunity to optimize digital scales, measuring tools and analytics, to bring innovations to pediatric care.
Routine growth screening is a basic building block in pediatric care. By improving the way we do the screen, we can make every measurement taken count towards the best possible analysis and care.
Stay tuned to follow Natasha on her innovation and entrepreneurial journey in pediatric growth screening and learning more about the solutions she’s developing.
Dr. Natasha Shur is a medical geneticist at Children’s National Hospital, working closely with the Rare Disease Institute and the Sheik Zayed Institute for Pediatric Surgical Innovation on innovation projects. She’s passionate about innovation in pediatrics and has received multiple grant awards. Her team along with Dr. Kevin Cleary, her project mentor and Technical Director of the Bioengineering Initiative at the Sheikh Zayed Institute for Pediatric Innovation, previously won a prize in the first pediatric accelerator challenge for kids Bear Institute PACK. Over the past year, the project was chosen for the Jumpstart program between Children’s National and University of Maryland to accelerate routine growth screening solutions.
Dr. Natasha Shur can be contacted on pediatricinnovate@gmail.com
