🧬 Genetics Tutorial on Sequencing.com with Dr. Erika Taylor

09/20/2025

Next-Gen Disease Screen (NGDS) & Related Tools

Next-Gen Disease Screen (NGDS)

• NGDS screens hundreds of genetic markers for potential disease risks.

• Genetics is only one part of the picture—results should be considered along with your symptoms and family history when deciding whether to be concerned or inform your healthcare provider.

• We reviewed how to interpret results, including the meaning of risk categories and confidence levels, which help guide possible next steps.

• If you use the AI Summary feature, the report will include only variants with High Confidence.

• The Explore Data feature allows you to search for specific results.

• The Guide tab provides a reference for what the different “Your Status” and “Confidence” values mean.

AI Reports

• AI Reports summarize your genetic data into easier-to-understand insightsand actionable information, such as health traits or medication responses.

• Some categories overlap, since certain variants relate to multiple conditions.

• You already have a batch of reports that can be downloaded as PDFs for sharing with healthcare professionals or keeping for your records.

Genome Explorer

• Lets you search directly in your raw genetic data by gene, variant, or condition.

• Accepts comma-separated lists (up to 10 items at once), so you don’t have to search one at a time.

• Filters are available by Confidence, Your Status, chromosome, variant ID, and more.

• You can also expand your view using the Select Columns dropdown to add information such as Classification, Risk Frequency, and relevant links.

SeqAI (AI Assistant)

• Built-in ChatGPT that can clarify terms, summarize reports, or guide your next steps.

• You can ask it to generate lists, e.g., “Give me a comma-separated list of conditions and genes linked to lupus.”

• Those lists can then be pasted into Genome Explorer for deeper searches.