Free Whole Genome Sequencing (WGS) in 2021
Free Whole Genome Sequencing (WGS) in 2021

The application portal is now closed and selected sites will be notified. 

As part of our effort to elevate the importance of genetic testing, and the role it can play in shortening the diagnostic journey for children living with a neurologic condition, we are working to expand the usage of genetic testing in the diagnostic process.

Thanks to the generous support of Illumina, we will be able to provide whole genome sequencing (WGS) at no cost to a limited number of patients, aside from possible routine venipuncture costs.

In 2021, up to 5 medical sites and 20 children who have not previously received a molecular diagnosis in the US will be selected to receive WGS. It’s important to note that applications will only be accepted from medical professionals.

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37716208 9121665 image a 1 1610015931930

General Information

Applications are open only to medical professionals (parents and caregivers, please contact your medical provider if interested). Selected sites will have the opportunity to submit up to a maximum of 5 pediatric neurology cases for trio WGS (patient and both parents) from April to June, 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.

Important Dates

  • February 7th, 2021 – Application Deadline
  • February 24th, 2021 – Selected Sites Notified
  • April – June, 2021 – Sample Collection Begins, Analyses Conducted
  • September 29th – October 2nd, 2021 – Information Shared at Annual CNS Conference

Site Eligibility Criteria

  1. Your clinic/practice is in the United States. 
  2. 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. 
  3. 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.
  4. You will participate in a brief onboarding call to learn about the logistics for samples submission and reporting.
  5. You have a identified a pediatric neurologist to coordinate all samples from your site.
  6. 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.)
  7. Your site or the patient’s lab will send blood samples to the Illumina clinical laboratory in San Diego, California, United States. Sample kits will be provided to sites and postage is included. (Note: Venipuncture costs to the patient will not be covered by CNF or Illumina but may be covered by your institution if other lab work is being conducted.) 
  8. 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.
  9. 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.)

Review Process

Applications will be reviewed by an expert panel of child neurologists and geneticists. If you meet the eligibility requirements above, we encourage you to apply to be a site to have trio WGS conducted for your patients. 

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. 

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