Research shows that it too often takes children with rare diseases many years and visits to different doctors to get a correct diagnosis.
Genomic sequencing can, in many cases, help children receive an accurate diagnosis in weeks or days. In the cases in which genomic sequencing may not yet yield a definitive diagnosis based on our current scientific understanding, clinicians emphasize that genomic sequencing is still important for ruling out known diseases, thereby removing futile testing and treatments from downstream patient management.
Medicaid is the single largest payer of care in the U.S. for children with rare diseases. Yet most state Medicaid programs do not cover important genomic sequencing, including whole genome sequencing. Too often, there are hassles and delays in children with rare diseases enrolled in Medicaid getting access to the genomic sequencing they need.
Whole genome sequencing is one of the best tools available for diagnosing rare diseases and helping drive research forward to better understand rare diseases. Compared to more targeted genetic tests, whole genome sequencing leads to faster diagnoses and fewer unnecessary tests.
Children with rare diseases deserve a fair shot – they deserve timely access to important genomic sequencing, especially whole genome sequencing. Genomic sequencing can provide clinicians with better information and families with greater peace of mind.
Our mission is to ensure that any child with a rare disease or suspected genetic disorder who is enrolled in Medicaid has timely access to genomic sequencing, especially whole genome sequencing. We also seek to ensure that patients and their families have the opportunity to share the sequencing results with medical researchers, to help aid in the discovery and development of new treatments for rare diseases.
Our vision is a day when any child who has a rare disease and is enrolled in Medicaid receives timely access to whatever genomic sequencing the child needs – regardless of the child’s location or the type of disease.
