COMBINEDBrain, a non-profit organization dedicated to fast-tracking cures for neurodevelopmental disorders, today announced the launch of Project FIND-OUT (Fast Infant Neurodevelopmental Diagnosis via Outpatient Testing), a collaboration among leading non-profit, academic, and industry organizations.
Project FIND-OUT provides whole genome sequencing (WGS) to infants who have early symptoms of rare genetic neurodevelopmental disorders. The goals of the study are to expedite diagnosis of rare genetic neurodevelopmental disorders, to generate evidence on the benefits of genetic testing for patients and their families, and to build capacity at a local level for implementation of genetic testing programs. “Curtailing the diagnostic odyssey through broad genetic testing at first signs of symptoms promises to transform the diagnosis and management of children with neurodevelopmental disorders over the next few years,” stated Dr. Seth Berger, M.D., Ph.D., a pediatric geneticist at Children’s National Hospital. Dr. Natasha Ludwig, Ph.D., a pediatric neuropsychologist at Kennedy Krieger Institute, adds “Early diagnosis not only creates opportunities for improved care at the individual level, but will help us understand how these rare conditions present very early on which is critical for the development of innovative patient-centered approaches to treatment.”
Rare genetic neurodevelopmental disorders (RGND) have symptoms that present in early childhood and are markedly underdiagnosed. On average it takes 30 months to get a diagnosis from the time parents identify a concern (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 treatments, which often provide the greatest benefit when administered early in life. Even in RGND without therapies (approved or in clinical trials), a genetic diagnosis can impact clinical management and improve patient outcomes.
Dr. Terry Jo Bichell, Ph.D., M.P.H., Executive Director, COMBINEDBrain noted, “when my son was born, we knew something was wrong, but it took over a year to get a diagnosis. Finding out that our son had Angelman syndrome was a gateway to getting help for him and finding support for our family. Finding out is the first step on the path to hope.”
Broad Clinical Labs, LLC., a subsidiary of the Broad Institute of MIT and Harvard, was selected to provide clinical WGS and interpretation services. Broad Clinical Labs (BCL) focuses on transformative projects designed to increase access and adoption of genetic sequencing. Project FIND-OUT purchased BCL’s $1,000 clinical WGS services offering which is a collaboration between BCL and Fabric Genomics leveraging the Fabric Genomics’ GEM AI interpretation technology.
Project FIND-OUT is unique in that it provides free whole genome sequencing, genetic counseling, and referral to specialists for symptomatic infants who meet straightforward inclusion criteria. These services will be provided virtually to families, so they do not have to travel to receive leading-edge diagnostic testing. Guide Genetics, which has a network of professional genetic counselors, an easy-to-use patient portal and lab referral platform will provide virtual genetic counseling services for the project. All RGND pathogenic diagnoses will be reported back to families and their healthcare providers to directly impact care.
Dr. Kim Goodspeed, MD, Assistant Professor in the Departments of Pediatrics, Neurology, and Psychiatry and a Dedman Family Scholar in Clinical Care at UT Southwestern Medical Center commented that “a genetic diagnosis often sounds like a random combination of letters and numbers, but within those results is a compass that ends the diagnostic odyssey; it brings closure to families and lights the way along a treatment pathway.”
“We’d like to thank the project core team Dr. Natasha Ludwig, Dr. Kim Goodspeed, and Dr. Seth Berger, our industry partners and collaborators, and the families for participating in Project FIND-OUT,” says Elizabeth Rountree, Diagnostics Lead at COMBINEDBrain, “The results from this study will help us understand the impact of genetic testing on families and increase access to genetic testing in the United States.”
The study is open to infants 3 – 12 months of age born in the USA who have 2 or more FIND-OUT symptoms:
- Feeding issues
- Issues with movement
- NICU admission
- Developmental delays
- Other (congenital malformations, atypical growth or specialist referral)
- Unprovoked seizures
For more information on Project FIND-OUT, please visit projectfindout.com.
The Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders (COMBINEDBrain) is a non-profit organization devoted to speeding the path to clinical treatments for people with rare genetic neurodevelopmental disorders by pooling efforts, studies, and data.
About Broad Clinical Laboratories, LLC.
Broad Clinical Laboratories, previously known as Clinical research sequencing platform, was founded in 2013 as a non-profit subsidiary of Broad Institute of MIT and Harvard to accelerate the genomics community and the world toward a better understanding, diagnosis, and treatment of disease by pursuing projects, developing products, and driving adoption of cutting edge -omics technologies and novel molecular assays.
About Fabric Genomics
Fabric Genomics’ vision is to make it possible for all patients to have genomics-driven precision medicine. The company provides healthcare organizations with end-to-end clinical sequencing solutions that include the Fabric Enterprise software platform and expert clinical interpretation services needed to scale genetic testing. At the core of our platform is a suite of sophisticated AI algorithms and data knowledge systems that turn data into expert clinical insights. Headquartered in Oakland, California, Fabric Genomics supports clinical applications across a variety of use cases including rare disease, oncology, cardiovascular, neurological and women’s health. To learn more, visit fabricgenomics.com and follow us on Twitter and LinkedIn.
About Guide Genetics
Guide Genetics (https://www.guidegenetics.com/) runs a global technology-enabled network of expert genetic counselors supporting a diverse set of customers in the genetics space. The Guide Genetics platform is a digital hub for genetic counseling and allows patients, providers, partners, and other stakeholders to tackle all elements of the complex modern genetic counseling patient journey.