Guide - Definitions, Classifications, Status

Sequencing App Guide:

When using Sequencing Apps, you’ll encounter some key terms related to your DNA analysis. At the top of the page for Genome Explorer and Next Gen Disease Screen we have provided a Guide to help understand these key terms and definitions. The Guide will provide more informaion, but here is a quick breakdown. 

• RCV ID: An identifier assigned by the National Institutes of Health (NIH) for specific genetic variants and the conditions they may be linked to.
• Chromosome: These are the inheritable units of DNA that contain your genes.
• Position: Refers to the location of a specific variant on a chromosome.
• Variant ID: A unique identifier for genetic variants, often starting with “rs” followed by numbers (e.g., rs123456).
• Gene: A segment of DNA potentially associated with a condition or trait.
• Impact: The effect of a variant on the amino acids in your body.
• Risk Frequency: The frequency at which a risk allele appears in populations.
• Variant Type: The specific kind of genetic change present.
• Ref/Alt: Refers to the standard reference DNA sequence (Ref) and an alternative DNA sequence (Alt) at a specific location.
• Your Data: Your specific genetic makeup at a given position.
• Risk Version: The genetic sequence that is associated with a potential risk for a condition.
• Condition: A disease, trait, or medication reaction linked to the risk version of a genetic variant.
• Classification: NIH’s ClinVar database classification for each variant, ranging from pathogenic to benign.
• Confidence: The level of evidence supporting a link between a genetic variant and a specific condition.

What Your Data Means:

Your genetic data in Sequencing Apps includes information on positions across your chromosomes. Depending on whether you’re male or female, you’ll see one or two letters (A, C, G, T) representing nucleotides at specific positions on your chromosomes. Additional symbols indicate insertions (I), deletions (D), and positions where data is either missing or inconclusive.

Your Status: Understanding Genetic Risks:

Genome Explorer provides insights based on specific genetic spots, called variants, but keep in mind:

• Focused Insight: Your status is focused on one specific variant.
• Not the Full Picture: Other variants may also play a role in the same condition.
• Beyond Genetics: Environmental, lifestyle, and other factors are crucial for your overall health.
• Precision Matters: If your genetic data doesn’t meet high standards, results may be marked as ‘Unknown’ for reliability.
• A Starting Point: The insights Genome Explorer provides should be discussed with a healthcare professional before making any decisions.

Understanding Risk Categories:

• Risk: Indicates a genetic risk for a condition (e.g., Detected, Increased Risk).
• Possible Risk: Indicates a potential risk or carrier status.
• Carrier: Refers to carrying a genetic variant that may be passed on to children but won’t impact your health.
• Harmless: Indicates no genetic risk for the condition.
• Unknown: The data was insufficient for an accurate analysis.

Confidence Ratings:

Genome Explorer assigns confidence ratings based on the evidence linking a variant to a condition. These ratings are divided into three levels:

• High Confidence: Established practice guidelines, expert reviews, or consistent evidence from multiple researchers.
• Medium Confidence: Supported by single studies but not yet replicated by others.
• Low Confidence: Preliminary findings or conflicting evidence from multiple researchers.

Variant Classifications:

Sequencing Apps use NIH’s ClinVar classification system for genetic variants, including:

• Pathogenic/Likely Pathogenic: Known to increase the risk of a condition.
• Unknown Significance: Limited research, requiring further studies.
• Likely Benign/Benign: Not likely to impact health.

Sequencing Apps are powerful tools that provide genetic insights, but always remember it is just one piece of your health puzzle. Consult with healthcare professionals to integrate these insights with your broader health profile.

Disclaimer:

Sequencing.com Apps and results have not been evaluated by the U.S. Food and Drug Administration (FDA). It is not intended to diagnose, monitor, treat, cure, or prevent any disease. The information provided should not be used for medical decision-making without consulting a healthcare provider. Always discuss your results with your physician or a qualified health professional, as they can offer a more comprehensive interpretation and may recommend further testing or medical advice based on your overall health.