Genomic Biorepository for Genetic Disorders

This trial aims to gather biological samples and genomic data to help understand and treat genetic disorders in children. By collecting DNA information and clinical features, the trial seeks to improve future diagnoses and treatment decisions. Anyone, regardless of health status, may participate, including individuals with or without genetic conditions. Researchers will analyze participants' genomic data to identify genetic diseases that match their symptoms, with confirmed results added to their medical records.

As an unphased trial, this study offers participants the opportunity to contribute to groundbreaking research that could lead to a better understanding and treatment of genetic disorders.

The trial information does not specify whether you need to stop taking your current medications.

Research has shown that genome sequencing thoroughly identifies nearly all differences in a person's DNA. This method is increasingly popular for diagnosing rare and unknown diseases. Studies indicate it aids in diagnosing and managing many genetic conditions, including rare diseases and some cancers. Genome sequencing is generally well-tolerated and involves analyzing a sample, such as blood, without invasive procedures. Reports of negative effects from the sequencing process itself are rare.

Unlike conventional methods for diagnosing genetic disorders, which often rely on limited genetic tests targeting specific conditions, genomic sequencing provides a comprehensive analysis of an individual's entire genetic makeup. This approach allows for the identification of rare or previously undiagnosed genetic disorders by analyzing vast amounts of genetic data. Researchers are particularly excited about the potential of genomic sequencing to deliver precise molecular diagnostic results, which can lead to more personalized and effective treatment plans. By creating a biorepository of genetic data, this trial aims to enhance our understanding of genetic disorders, paving the way for advancements in early diagnosis and targeted therapies.

Research has shown that studying a child's genes is a powerful method for identifying genetic disorders. In a large study, about 37% of children in intensive care with unknown illnesses received a genetic diagnosis through this method, often resulting in changes to their treatment. Another study found that examining a child's entire set of genes is a cost-effective approach for diagnosing babies with potential genetic disorders. Quickly studying genes not only helps identify the cause of a disease but also saves time and money by leading to faster diagnoses and appropriate treatments. Overall, studying genes effectively uncovers genetic conditions in children. Participants in this trial will contribute to a genomic biorepository, which includes genomic sequencing and molecular diagnostic results, to advance research in this field.⁶⁷⁸⁹¹⁰