Diagnostic Odyssey: Whole Genome Sequencing (WGS)

Description

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.

Conditions

Genetic Disease, Genetic Syndrome

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Study Overview

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Study Details

Study overview

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.

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

Diagnostic Odyssey: Whole Genome Sequencing (WGS)

Condition
Genetic Disease
Intervention / Treatment

-

Contacts and Locations

Miami

Nickalus Children's Hospital f/k/a Miami Children's Hospital, Miami, Florida, United States, 33155

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * Symptomatic male or female children ages 0-21 who have un unknown medical condition thought to have an underlying genetic cause after parental consent has been obtained.
  • * Willingness of referring provider or other qualified medical staff member to participate in this study by facilitating collection of biologic specimens and clinical information.
  • * Patient whose medical condition can be reasonably attributed to a possible genetic etiology.
  • * Patient have had at least one diagnostic test without a definite diagnosis.
  • * Unwillingness to consent to research.
  • * Affected adults (\>21 years of age), unless they are a biological relative of the affected child.
  • * Any patient whose medical condition cannot be reasonably attributed to a possible genetic etiology or there is a prior diagnosis that explains the child's clinical presentation.

Ages Eligible for Study

to 21 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Nicklaus Children's Hospital f/k/a Miami Children's Hospital,

Parul Jayakar, MD, PRINCIPAL_INVESTIGATOR, Nicklaus Children's Hospital

Study Record Dates

2070-03