Genomic Services for Secondary Findings in Genetic Testing
What You Need to Know Before You Apply
What is the purpose of this trial?
This trial explores how certain gene variants, known as secondary findings, might impact health. Genome sequencing, which reads all of a person's genes, can reveal these secondary findings, potentially important even if unrelated to the initial testing reason. Participants with secondary findings from genetic tests can share their experiences through surveys and interviews and may be evaluated for related health concerns. Eligible individuals include those who have undergone genetic testing and have secondary findings, and they can receive genetic counseling as part of the study. As an unphased trial, this study offers participants the chance to contribute to groundbreaking research that could enhance understanding of genetic impacts on health.
Do I need to stop my current medications for this trial?
The trial information does not specify whether you need to stop taking your current medications. It seems focused on genetic findings and does not mention medication changes.
What prior data suggests that genome sequencing is safe?
Research has shown that whole genome sequencing (WGS) is increasingly used in areas like food safety and healthcare. This method examines all of a person’s genes to identify differences, aiding in disease detection and understanding genetic changes.
Studies have found WGS to be safe and well-tolerated. The process involves taking a DNA sample, such as from blood or saliva, for examination. It is non-invasive, meaning it does not involve surgery or any risky procedures. Problems related to the sequencing itself are rare.
In healthcare, WGS often diagnoses rare or unknown diseases, helping doctors better understand genetic conditions. While the process provides detailed genetic information, the safety of the sequencing itself is well-proven.12345Why are researchers excited about this trial?
Genome sequencing is unique because it provides a personalized approach to diagnosing and treating genetic conditions. Unlike traditional methods, which often rely on symptoms and family history, genome sequencing allows for a comprehensive analysis of an individual's entire genetic makeup. This can identify specific genetic mutations that might be causing a condition, leading to more accurate and targeted treatments. Researchers are excited about this technique because it has the potential to uncover previously unknown genetic links to diseases, paving the way for innovative therapies and improved patient outcomes.
What evidence suggests that genome sequencing is effective for understanding secondary genetic findings?
Research has shown that genome sequencing is a powerful tool for understanding genetic differences. Studies indicate that whole-genome sequencing offers a complete view of a person's DNA, aiding in the identification of genetic variations. This technology can lead to quicker and more accurate genetic diagnoses, particularly for rare and unknown diseases. By analyzing millions of DNA pieces simultaneously, it provides a detailed picture of a person's genetic makeup. Healthcare increasingly uses this method to uncover important genetic information that might affect a person's health.35678
Who Is on the Research Team?
Leslie G Biesecker, M.D.
Principal Investigator
National Human Genome Research Institute (NHGRI)
Are You a Good Fit for This Trial?
Inclusion Criteria
Timeline for a Trial Participant
Screening
Participants are screened for eligibility to participate in the trial
Genomic Sequencing and Results Return
DNA samples are studied, and primary or secondary findings are shared with participants
Follow-up
Participants complete an online survey and phone interview three months after receiving secondary findings
Genetic Counseling
Participants with secondary findings can receive genetic counseling
What Are the Treatments Tested in This Trial?
Interventions
- Genome Sequencing
Find a Clinic Near You
Who Is Running the Clinical Trial?
National Human Genome Research Institute (NHGRI)
Lead Sponsor
Citations
Next-Generation Sequencing Technology: Current Trends ...
Next-generation sequencing (NGS) is a powerful tool used in genomics research. NGS can sequence millions of DNA fragments at once.
Real-world diagnostic outcomes and cost-effectiveness of ...
Using real-world data, we found earlier access to ES may yield more rapid genetic diagnosis of childhood developmental and seizure disorders and cost savings.
Whole-genome sequencing of 490640 UK Biobank ...
Whole-genome sequencing provides an unbiased and complete view of the human genome and enables the discovery of genetic variation without ...
4.
bmcmedgenomics.biomedcentral.com
bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-024-01795-wWhole genome sequencing in clinical practice
Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic diagnosis of rare and unknown diseases and for ...
5.
carislifesciences.com
carislifesciences.com/what-is-next-generation-sequencing-and-how-does-it-work/What is Next Generation Sequencing and How Does it Work?
Next Generation Sequencing allow scientists to sequence DNA very efficiently by reading multiple smaller sections of DNA simultaneously.
Whole Genome Sequencing (WGS) Program
FDA is laying the foundation for the use of whole genome sequencing to protect consumers from foodborne illness in countries all over the world.
Use of Whole-Genome Sequencing for Food Safety and ...
Whole-genome sequencing (WGS) is increasingly used by food regulatory and public health agencies in the United States to facilitate the detection, investigation ...
Whole-Genome Sequencing (WGS)
Whole-genome sequencing delivers a comprehensive view, ideal for discovery applications. Newer genome sequencers perform WGS more rapidly than ever.
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