Project FIND-OUT has enrolled over 85 families so far, helping to provide answers and resources for children. Additionally, Project FIND-OUT strives to improve current understanding of the symptoms that might be related to a genetic disorder and continues to work towards advancing policies regarding access to genetic testing services.
“This was the best thing that could have happened for us and our daughter given the circumstances. I couldn’t imagine not having this information or having to pay a high amount to know specifics. Her results were rather minor which gave us a sense of hope and peace and a way to move forward and know that she can hopefully live a well, fulfilled life. We are in a support group on Facebook that has been very helpful. Thank you all for this opportunity to find out more about our sweet girl.”
“Our experience was great. It was a very fast process. We are thankful for Project FIND-OUT.”
“I think it is such a valuable service and shouldn’t be such a barrier to get when your child is experiencing delays.”
“We were able to get genetic testing quickly and with ease without the barrier of a provider saying no. It also ruled things out we had been concerned about. Additionally, it led us to find our ‘carrier’ status for any future pregnancies which we likely wouldn’t have done otherwise without an expanded screening. It will not change anything as we weren’t matching carriers, but still good info to know!”
“I’m grateful you were able to do the best testing available right now. [Before Project FIND-OUT] we got the referral for genetics easily based on our case, but the local genetic labs have up to a year wait times and it was kind of urgent since my baby’s so young. We went through a private place but it wasn’t covered by insurance. Insurance rejected it and they weren’t very helpful.”
Schmidt K, Rountree E, Hunnicutt C, et al. P281: Project FIND-OUT: Caregiver utility assessments demonstrate the value of genetic testing to families. Genetics in Medicine Open. 2026;4. doi:10.1016/j.gimo.2026.103775
Pierobon Mays, G., Schmidt, K., Hunnicutt, C., Tummala, R., Rountree, E., Ludwig, N., Yano, S., Liebers, SB., Baxter, A., Ondrasik, D., Goodspeed, K., Berger, S., Bichell, TJ., Project FIND-OUT: Outpatient Genome Sequencing in Expanded Pool of Symptomatic Infants at Risk for Genetic Neurodevelopmental Disorders Provides Earlier Diagnoses (P185). Poster Presented at the 2025 ACMC Annual Clinical Genetics Meeting, Los Angeles, CA. March 20, 2025.
Pierobon Mays, G., Terala, A., Baxter, A., Schmidt, K., Rountree, E., Liebers, B., Berger, S., Bichell, TJ., Project FIND-OUT: Protocol and pilot study for whole genome sequencing in symptomatic infants; (Abstract #2353). Poster Presented at the Annual Meeting of The American Society of Human Genetics, Denver, CO. November 6, 2024.
P405: Project FIND-OUT (Fast Infant Neurogenetic Diagnosis via Outpatient Testing): Utilization of healthcare claims data to inform protocol design
Bichell, Terry Jo et al. Genetics in Medicine Open, Volume 1, Issue 1, 100441
Project FIND-OUT gives families and healthcare providers a simple and fast process to obtain genome sequencing and genetic counseling.
Of the 86 families who participated in Project FIND-OUT, 40% of babies received one or more genetic diagnoses:
Roughly one-quarter of the infants tested had a diagnostic finding that explained their symptoms (21 patients).
An additional 5 patients received positive secondary findings. Meaning unexpected but potentially important health information was discovered that could benefit them or their family members.
An additional 10 patients received a pathogenic incidental finding. These findings were incidental in that they did not fully explain the child’s symptoms, but represent an important genetic diagnosis. The most common example of a pathogenic finding was a G6PD deficiency, a common genetic disorder where the body lacks enough of the enzyme glucose-6-phosphate dehydrogenase (G6PD), which protects red blood cells from oxidative damage.
Self Referred vs. Health Care Provider Referred Patients
Our results show that parents and caregivers know their babies well enough to recognize when something might be wrong, even without a doctor’s referral first. Most studies where doctors sequence a group of patients find a positive result somewhere between 15% and 40% of the time. Our self-referred families were in the same range which suggests parents’ own observations of their baby’s symptoms can be just as reliable as a doctor’s referral for deciding who should get Genome Sequencing.
21% of families from our self-referral pathway had a pathogenic/likely pathogenic (positive) result
33% of families from our Healthcare Provider referred pathway had a pathogenic/likely pathogenic (positive) result
Caregiver Utility Data:
We recently surveyed 25 families who participated in Project FIND-OUT to better understand how genetic testing affected the impact on their child’s care and emotional benefits.
60% of families said genetic testing through Project FIND-OUT was useful in their child’s care and support (15 families). Families said it helped them plan for their child’s future, make decisions about school or career planning, access support services and social programs, help their child’s doctors provide better care, and communicate more effectively with their child’s healthcare team.
84% of families reported that participation in Project FIND-OUT provided emotional benefits (21 families). Families said they felt more prepared for the future, more in control of their child’s health, better able to cope with their child’s health risks, less guilt or blame, and more supported by friends and family.
88% of families shared that they were highly likely to recommend Project FIND-OUT to other families. (22 families).
These benefits were not limited to families who received a diagnosis.
Among families who did receive a diagnosis, 83% of families reported an impact on their child’s care, and 83% of families reported emotional benefits.
Among families who did not receive a diagnosis, 79% of families reported an impact on their child’s care, and 84% of families reported emotional benefits.
What does this mean for families?
Overall, these results show that genetic testing through Project FIND-OUT helps families no matter the outcome. Most families feel more prepared, more supported, and better equipped to care for their child, showing the real value genetic testing can offer families in their baby’s first year.