2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Project FIND-OUT (Fast Infant Neurogenetic Diagnosis via Outpatient Testing): Utilization of Healthcare Claims Data to Inform Protocol Design

Pdf Summary

Project FIND-OUT is a project focused on providing genetic testing to pediatric patients with congenital anomalies or intellectual disability and unexplained epilepsy. The project follows recommendations from the American College of Medical Genetics and the National Society of Genetic Counselors, which advocate for whole exome or whole genome sequencing as first-tier testing. However, clinicians and payers may not always follow these guidelines, creating barriers to testing. Project FIND-OUT aims to remove these barriers and ensure that children of all races, ethnicities, socioeconomic statuses, and geographic locations have access to genetic testing.<br /><br />The project has established quotas to ensure a diverse patient population, including representation from underrepresented minority groups and high area deprivation index communities. Efforts are being made to target primary care practitioners in zip codes with high minority census to reach the intended population.<br /><br />The primary endpoint of the project is the diagnostic yield of clinical whole genome sequencing. The project hypothesizes a diagnostic yield of 20%, which could lead to diagnosing over 50,000 infants with a genetic condition each year and reducing their diagnostic odyssey. In addition to diagnostic yield, the project will evaluate clinical utility, caregiver utility, and healthcare utilization.<br /><br />The project involves multiple institutions and organizations, including the National Brain Gene Registry, Project Baby Bear/Baby Deer, University of Technology Sydney, Ottawa Hospital Research Institute, Brain, Kennedy Krieger Institute, Ambit Care, Inc., Children's National Medical Center, and University of Texas Southwestern Medical Center.<br /><br />The information provided is sourced from claims data and research articles, and the project intends to continue conducting literature reviews to support their findings.

Asset Subtitle

Presenting Author - Terry Jo V. Bichell, PhD, MPH; Co-Author - Natasha Ludwig, Ph.D.; Co-Author - Elizabeth Rountree; Co-Author - Seth I. Berger, MD, PhD; Co-Author - Kimberly Goodspeed, MD;

Meta Tag

Brain/Nervous System

Cognitive Disorders

Congenital Anomaly

Dysmorphology

Genetic Testing

Genome sequencing

Genotype-Phenotype Correlations

Intellectual disability

Malformation

Neuroscience

Policy Issues

Co-Author Natasha Ludwig, Ph.D.

Co-Author Elizabeth Rountree

Co-Author Seth I. Berger, MD, PhD

Co-Author Kimberly Goodspeed, MD

Presenting Author Terry Jo V. Bichell, PhD, MPH

Keywords

Project FIND-OUT

genetic testing

pediatric patients

congenital anomalies

intellectual disability

unexplained epilepsy

American College of Medical Genetics

National Society of Genetic Counselors

whole exome sequencing

whole genome sequencing