Dear Child Neurology Society Member,
The Child Neurology Foundation (CNF) Symposium at the 2021 Child Neurology Society Annual Meeting will focus on shortening the diagnostic odyssey in the pediatric neurology setting. As a part of overall education and discussion, CNF has secured a sponsorship which has enabled us to offer whole genome sequencing (WGS) to a defined number of patients who have not yet received a molecular diagnosis. There is no cost to the patient or the provider for this clinical service, aside from possible routine venipuncture costs.
Selected sites will have the opportunity to submit up to a maximum of 5 pediatric neurology cases for trio WGS (patient and both parents) between March 15 and June 1, 2021. The clinical WGS analysis will include assessment for single nucleotide variants, small deletions/insertions, and copy number variants (>10 kb). Clinical test reports will be provided directly back to the ordering provider, and CNF will not have any access to patient information. CNF will only track the number of cases submitted and ensure results are delivered directly to the participating sites in accordance with HIPAA compliance and patient privacy protection.
We are able to arrange for a total of 20 cases to be evaluated through this pilot program. You may be eligible to submit cases to Illumina for WGS based on the following criteria:
- Your clinic/practice is in the United States.
- You identify up to a maximum 5 pediatric patients that you feel are candidates for WGS. All cases will be analyzed through trio analysis; therefore, all cases must include a blood sample from the affected proband and their biological mother and father. Sample kits and submission instructions will be provided to each site.
- During the application process, for each case submitted, you will summarize the previous testing and diagnostics as well as why the child would benefit from WGS. In this summary, all information must be deidentified and there will not be an option to include attachments.
- You will participate in a brief onboarding call to learn about the logistics for samples submission and reporting.
- You have a identified a pediatric neurologist to coordinate all samples from your site.
- Your site will provide certified genetic counseling to all participants. (If your site does not have genetic counseling available, you may indicate on the application that you will require assistance with genetic counseling CNF and Illumina will try to identify a licensed genetic counselor, in your area or remotely, that will be able to provide genetic counseling free of charge. Unfortunately, if in-house or outsourced complimentary counseling is not available, the participant will not be eligible for this opportunity.)
- Your site or the patient’s lab will send blood samples to the Illumina clinical laboratory in San Diego, California, United States no later than April 30, 2021. Sample kits will be provided to sites and postage is included. (Note: Venipuncture costs to the patient a will not be covered by CNF or Illumina but may be covered by your institution if other lab work is being conducted.)
- You agree to participate in an interview conducted by CNF after the testing process is complete to provide feedback on your experience with the WGS testing process.
- You understand results from the cases and the site interview may be discussed at the CNF Annual Symposium in a de-identified, case-study manner, or in conglomerate with other cases. (Note: As a participant in the program, you will be invited to attend the symposium and will also receive a copy of any data shared at the event.)
Applications will be reviewed by an expert panel of child neurologists and geneticists. If you meet the requirements above, we encourage you to apply to be a site to have trio WGS conducted for your patients. If you are interested in this opportunity, please complete this form by February 7, 2021.
All applications will be reviewed, and participant sites will be selected based on cases that will most benefit from WGS and the site’s ability to meet the application criteria. Sites will be notified of their status no later than February 24, 2021 to allow time for the sites to collect the necessary samples before the April 30, 2021 deadline. Please contact Cyndi Wright with CNF at: CWright@childneurologyfoundation.org with any questions you may have.
Thank you in advance for your consideration,
Scott Pomeroy, MD
Child Neurology Foundation
Amy E. Brin, MSN, MA, PCNS-BC
Executive Director, CEO
Child Neurology Foundation
Posted January 12, 2021