1. What is the decision or change (e.g., clinical topic, practice guideline, system design, delivery of care) you are facing or struggling with where a summary of the evidence would be helpful?
Whole Genome Sequencing and Shortening the Diagnostic Odyssey
2. Why are you struggling with this issue?
1 in 5 children in the US live with a neurologic condition, which are wide-ranging with various causes, complications, and outcomes. Many conditions requiring life-long management of physical, cognitive, emotional, and/or behavioral symptoms. Despite the prevalence of neurologic conditions in the pediatric population, children and their families wait an average of 9 weeks in the United States to access a child neurologist, and often wait three or more years searching for a diagnosis after the onset of their child’s symptoms. These families also experience social and economic challenges with nearly half reporting financial hardships, a nd a quarter of living in poverty.
The Child Neurology Foundation (CNF) supports these 1 in 5 children experiencing neurologic conditions and their families through every stage of their journey--through the diagnostic odyssey to treatment and comfort care. We know through our annual Needs Assessment data that the diagnostic odyssey can be among the most isolating and stressful parts of a family’s journey. We also now know that for some of our families, genetic testing can be a tool that shortens this odyssey.
Of the 1513 caregiver respondents to our annual Needs Assessment survey in 2022, 59% had children with epilepsy. Most of the known causes of these epilepsies were genetic. 70% of these individuals had received genetic testing, including Epilepsy Gene Panel, Whole Exome Sequencing, DNA Sequencing, Chromosome Microarray, and Whole Genome Sequencing. We can tell from this that genetic testing can be a way to provide a diagnosis to a waiting family. Because of the potential genetic testing brings for families on the diagnostic odyssey, 72% of families with an undiagnosed child are interested in genetic testing. Of these, only 35% had discussed with their child’s physician; of the families that did talk with their child’s physician, only 68% reported that their child’s doctor was able to answer their questions.
Receiving a diagnosis is empowering for a family; 38% of caregivers with a diagnosed child reported changing their child’s treatment plan after receiving a diagnosis. 78% of these families reported that their child’s diagnosis helped them connect with other people and resources, and 97% of those families reported that it was helpful to make these connections.
The situation is also frustrating for clinicians. 70% of the 152 child neurologists who responded believe that almost three-fourths of their undiagnosed patients are 50% or more likely to have a genetic cause of their epilepsy. But uncertainty about the potential population health benefits of Whole Genome Sequencing means that this remains a difficult, confusing, and incomplete conversation for the families who can benefit.
3. What do you want to see changed? How will you know that your issue is improving or has been addressed?
CNF has been working to educate and support both families and clinicians to better understand Whole Genome Sequencing. Through a year-long program beginning in 2021, CNF showcased some of the most pressing science and clinical education for clinicians to better understand how to use Whole Genome Sequencing for their patients. CNF also produced high-quality multimedia caregiver education and offered partnerships with institutions across the country to provide no-cost Whole Genome Sequencing to qualifying families.
The efforts of CNF and our partners could be made more efficient if there was a clearer understanding of both the clinical and health system effects of Whole Genome Sequencing. We already know that Whole Genome Sequencing moves a family further along in their diagnostic odyssey, but even with that knowledge, insurers are not likely to cover it. But right now, there is limited evidence that demonstrates that earlier diagnoses will result in fewer overall healthcare costs because of the higher quality of care a patient will receive. An evidence report contributing to this evidence will improve the lives of undiagnosed children, their families, and their clinicians.
4. What will you do with the evidence report?
CNF is committed to our work regarding Whole Genome Sequencing; we see this as an ongoing need within our community. While an evidence report soon would allow us to incorporate the latest findings into the work we are currently doing, we would be grateful for this report at any time—we do not see our work in this area slowing down.
Optional Information About You
What is your role or perspective? Patient Advocacy Organization
If you are you making a suggestion on behalf of an organization, please state the name of the organization Child Neurology Foundation
May we contact you if we have questions about your nomination? Yes
