Project FIND-OUT enables the rapid detection of rare genetic neurodevelopmental disorders (RGND) in babies aged 3-12 months who present symptoms.
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The goal of Project FIND-OUT is to offer whole genome sequencing (WGS) to babies who appear to have rare neurodevelopmental disorders. Its objectives are to facilitate the diagnosis of such disorders, to investigate the advantages of genetic tests for patients and their families, and to enhance local capacity to carry out such testing. Early detection of symptoms can expedite a diagnosis, leading to early management of such conditions. This can result in a better understanding of the manifestations of these conditions in earlier stages and more patient-centered treatment.
The average diagnosis timeline for children with RGND is 30 months from recognition of symptoms. This extended diagnostic process is tough for families and costly for the healthcare system. Furthermore, a delay in diagnosis may impede patients from taking advantage of therapies, which are most effective when employed early in life. Even in cases of RGND where therapies are not authorized or undergoing clinical trials, a diagnosis can still have a positive effect on management and improve patient outcomes.
Project FIND-OUT is distinct in its offering of free whole genome sequencing, genetic counseling, and referral to specialists for infants who meet the specified inclusion criteria. These services will be provided virtually, so parents do not have to leave their homes to obtain the most up-to-date diagnostic testing. Guide Genetics, with their network of professional genetic counselors, an accessible patient portal, and a lab referral platform, will supply the virtual genetic counseling services for the project. All RGND pathogenic diagnoses will be communicated to the families and their healthcare providers for the sake of improving the quality of care given.
This research is open to babies born in the US ranging from 3 to 12 months old who have 2 or more indications of FIND-OUT:
- Feeding issues
- Issues with movement
- NICU admission
- Developmental delays
- Other (congenital malformations, atypical growth or specialist referral)
- Unprovoked seizures
- Tone
Elizabeth Rountree, Diagnostics Lead at COMBINEDBrain, expressed her gratitude to the core team members of Project FIND-OUT (Dr. Natasha Ludwig, Dr. Kim Goodspeed, and Dr. Seth Berger), their industry partners and collaborators, and the families for their involvement. She went on to explain that the findings of the research will be instrumental in comprehending the influence of genetic testing on families and broadening its availability in the United States.
For more on neurological rare diseases, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/
