Project FIND-OUT

COMBINEDBrain

Project FIND-OUT

Project FIND-OUT provides whole genome sequencing to symptomatic infants to reduce the time to diagnosis in rare genetic neurodevelopmental disorders.

Brentwood, TN, USA

USA

Nonprofit

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An estimated 17% of children are affected by neurodevelopmental disorders and many of these disorders have a genetic cause. Yet, most never receive an accurate diagnosis, and those who do often wait an average of 30 months after symptoms first appear. By then, the critical window for life-changing treatments, like gene therapy, may have already passed. This diagnostic delay is largely due to systemic challenges, such as current guidelines failing to identify at-risk children early, and limited access to genetic testing due to a severe shortage of specialists, with only 1,240 medical geneticists nationwide—unevenly distributed and often inaccessible to underserved communities. The traditional models of healthcare delivery will be unable to solve this problem. Globally, this contributes to a silent crisis: delayed diagnoses increase emotional stress for families, lead to avoidable healthcare costs that do not improve patient outcomes, and limit the potential of emerging therapies. Even when no treatments are available, a genetic diagnosis improves both patient care and support for families. Project FIND-OUT addresses this gap by empowering families to access genetic testing and connecting them to appropriate resources. By shortening the diagnostic journey, we aim to improve outcomes for children and families everywhere.

In Project FIND-OUT, eligible infants 3 – 12 months of age receive whole genome sequencing. Infants who display 2 or more of the Project FIND-OUT inclusion criteria are eligible: feeding issues, abnormal movement (such as ataxia), NICU admission, developmental delay, other issues (such as congenital malformations, atypical growth or specialist referral), seizures, and abnormal muscle tone. Symptoms may be identified by either parents or healthcare practitioners, empowering families as well as pediatricians to refer infants for testing. Informed consent, assessments, and results are provided online and via virtual appointments, removing barriers caused by distance from tertiary care centers. Following the return of results, the Project FIND-OUT team works with the patient’s healthcare providers to help the patient receive appropriate referrals (such as a referral to a Pediatric Neurologist, early intervention services, or connection to a disease-specific patient advocacy group for support).

Project FIND-OUT serves families of infants under 12 months old showing early signs of neurodevelopmental disorders. These families often face long, frustrating diagnostic journeys, especially when their concerns are not believed or taken seriously by their primary care providers, or when they lack a medical provider altogether. Underserved populations, such as those in rural areas, non-English speakers, and families with low socioeconomic status, face additional barriers. They may experience long wait times or complete lack of access to specialists such as geneticists or neurologists, and often cannot afford or obtain insurance approval for genetic testing. These gaps delay diagnosis, limit care, and increase stress on already overwhelmed families. Project FIND-OUT is designed to reach these families earlier and more equitably by providing families with direct access to clinical whole genome sequencing and virtual genetic counseling so that they can receive results in around a month vs. the current standard of 30 months. In addition, primary care clinics and early intervention programs, including those serving Medicaid and under-resourced communities, can refer families. By offering whole genome sequencing and genetic counseling, we aim to empower families with answers, reduce time to diagnosis, and open the door to timely care, treatment, and support.