Healthcare Providers

The overall goal of Project FIND-OUT is to facilitate early and accurate genetic diagnosis of rare genetic neurodevelopmental disorders in infants between the ages of 3-12 months
in the United States.

Are You Worried About A Patient?

Are you managing an infant where you suspect the child might have an underlying genetic condition? Infants with feeding issues, problems with movement or muscle tone, who have missed developmental milestones, who have abnormal growth, or who have a history of NICU admission may benefit from genetic testing. Learn more about Project FIND-OUT, which provides free genetic counseling and testing for eligible infants.

What Is Project FIND-OUT?

Project FIND-OUT is an important research project to help parents and healthcare providers get answers about potential genetic causes of their child’s symptoms. Project FIND-OUT is designed to identify infants based on symptoms, determine the diagnostic yield, and then develop an algorithm for which infants should receive whole genome sequencing. Our goal is to influence the development of national guidelines and payor coverage policies to make it easier for healthcare provides to access whole genome sequencing.

Who Is Eligible To Participate In Project FIND-OUT?

Project FIND-OUT is only open to infants in the United States between the ages of 3-12 months who have 2 or more of the below symptoms.

Symptoms

Definition

Feeding issues

Inability to suck, reflux, constipation, dysphagia

Issues with movement/abnormal movements

Hyperkenetic movements (chorea, dystonia, myoclonus, tics, tremors, sterotypies), ataxia, tremulousness, torticollis

Neonatal intensive care (NICU) admission

Any NICU or ICU admission for any reason of any duration

Developmental delay

Missed milestones in 2 or more domains such as communication, gross motor, fine motor, problem solving, or personal-social (can use any instrument to assess including ASQ or CDC)

Other (congenital malformations, atypical growth or specialist referral)

Structural anomalies including dysmorphic features
Atypical growth in head circumference, weight, or length (<5 or > 95% on growth chart)
Referral to a specialist (physician, PT/OT/ST)

Unprovoked seizures

One or more unprovoked seizure

Tone

Low muscle tone, floppy baby, head lag, diminished or absent tendon reflexes, hyperative or repeating tendon reflexes (clonus)

Why Is Project FIND-OUT Needed?

For many rare genetic neurodevelopmental disorders (RGND), less than 50% of patients have a confirmed genetic diagnosis¹ and the average time between parents first identifying a concern to a genetic diagnosis is around 30 months²⁻³ (for those who get a diagnosis). A long diagnostic journey is difficult for families and expensive for the healthcare system. In addition, a late diagnosis may prevent patients from receiving the maximum benefit of gene therapy and other disease-modifying therapies, which often provide greatest benefit when administered early in life. Even in RGND without therapies (approved or in clinical trials), a genetic diagnosis can impact clinical management⁴.

What Are The Benefits Of Project FIND-OUT?

Families who participate will receive the following free services:

Free whole genome sequencing
A clinical report with the results of the genetic testing will be provided to you, to other healthcare providers involved in their care, and to the family. These results may inform decisions that you and the child’s family make about the child’s care.
Free genetic counseling support for the family. The genetic counselors are also available as a resource to you via phone, text, or chat.
You and your patient will contribute to an important research study on the value of genetic testing. We hope this study will lead to the development of guidelines for healthcare physicians and health insurance companies. Having guidelines may make it easier for healthcare providers and families to get genetic testing in the future.

What Do I Need To Do To Participate In Project FIND-OUT?

We aim to make participation in Project FIND-OUT easy for you and your patients. To enroll a patient, either you or the caregiver can complete a patient enrollment form. We will contact the patient to provide additional information about the study and complete the enrollment process including informed consent. Once the patient has enrolled, we will send a request for medical records to your practice. Your patient will be assigned to a genetic counselor. The genetic counselor will also be available to you in case you have any questions. Once the test results have returned, we will send the test report to you.

If you have any questions, you can contact us at projectfindout@combinedbrain.org.

References:

1) Musante L, Costa P, Zanus C, et al. The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge. Genes (Basel). 2022

2) Simon, J., Hyde, C., Saravanapandian, V. et al. The diagnostic journey of genetically defined neurodevelopmental disorders. J Neurodevelop Disord 14, 27 (2022). https://doi.org/10.1186/s11689-022-09439-9

3) Klau J, Abou Jamra R, Radtke M, Oppermann H, Lemke JR, Beblo S, Popp B. Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders. Eur J Hum Genet. 2022 Jan;30(1):117-125. doi: 10.1038/s41431-021-00981-z. Epub 2021 Oct 25. PMID: 34690354; PMCID: PMC8738730.

4) Haviland I, Daniels C, Greene C, et al. Genetic Diagnosis in Pediatric Epilepsy Impacts Medical Management. AES2021; Abstract2.319.

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