๐Ÿ›๏ธ Verified NIH Record โ€ข Updated 2026-08-20

Diagnostic Odyssey: Whole Genome Sequencing (WGS) (NCT03458962)

Ending the Diagnostic Odyssey: Whole Genome Sequencing (WGS) to Identify Genetic Determinants of Previously Undiagnosed Disease in Children

๐Ÿ”ต Active, Not Recruiting Interventional Protocol ๐Ÿ“Š Observational Clinical Research Sponsor: Nicklaus Children's Hospital f/k/a Miami Children's Hospital

๐Ÿฉบ Plain-English Summary (8th-Grade Level)

The goal of this collaborative research is to study human genomes in children with suspected congenital disease, multiple-congenital anomalies and/or multi-organ disease of unknown etiology by understanding the potential value of Whole Genome Sequencing (WGS) in establishing genetic diagnosis. The study will examine diagnosis rates, changes in clinical care as a result of a genetic diagnosis, health economics including potential cost-effectiveness of WGS and patient and provider experience with genomic medicine.

Who can join: Review the eligibility criteria below.

Location: Nickalus Children's Hospital f/k/a Miami Children's Hospital โ€” Miami, Florida

Age range: Not specified to 21 Years

๐Ÿงช Interventions in This Study

  • Genetic Enrollees (GENETIC)

๐Ÿ“‹ "Do I Qualify?" โ€” 1-Minute Self Screener

Instant Checklist

Full eligibility criteria are available on the official NIH protocol. View the criteria โ†—

๐Ÿ“ All Participating Trial Locations (1 Sites)

  • Nickalus Children's Hospital f/k/a Miami Children's Hospital โ€” Miami, Florida

๐Ÿ’ฐ Cost, Insurance & Patient Rights

  • 100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
  • Routine Patient Care: Under federal law (ACA ยง 2709) and many state statutes, routine care costs are covered during participation.
  • Voluntary Participation: You may withdraw at any time without affecting your standard medical care.

Explore by condition: All Genetic Disease clinical trials

๐Ÿ’ก How to Participate

  1. Check the checklist above to see if you may qualify.
  2. Review the official NIH record below to find the coordinating site.
  3. Ask about the visit schedule, what is covered at no cost, and any travel support.
  4. Confirm with your own doctor before making a decision.
๐Ÿ›๏ธ View Official NIH Record โ†—