Sample report – Gene Interpretation Portal

Multi-Gene Variant Clinical Report

Discovered Gene Variant Clinical Report

A Case of Breast Cancer and Chronic Pain

DNA sequencing discovered several genes carrying deleterious mutations: ITPR2, AMPD1, GPR139, TYRP1, TOR1B, NPR2, SCN9A, BRCA2.

To explore the significance of these genes, copy and paste one or several genes in the space below, and press Generate Report button.

After a short while you will receive an AI generated report based on your clinical presentation, symptoms and family history. This report is unique to you. It factors all deleterious variants found in genes known to be associated with diseases. The report has seveal important parts, read them carefully.

The first part lists a gene or genes known to American College of Medical Genetics of ACMG to cause a serious illness. These genes are marked in red.

Sections 1 to 5 include descriptions of genes with deleterious variants that you carry, description of diseases linked to these genes, description of known treatments and nutraceuticals that may have positive or unexpected negative effects, differential diagnosis based on your genetic makeup, answers to your questions, if any, and list of affected genes along with Gene-disease Association score or GDA.

The GDA score shows how much scientific evidence exists that a certain gene is connected with a disease. A higher score means that researchers have found stronger and more reliable connections between the gene and that disease. A lower score means the connection is less certain or still being studied. These scores are one of several tools doctors use to understand whether a genetic change might help explain a person’s symptoms or health risks.

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Write or edit clinical summary. For example, you may write “A 50-year old female complaints of …”

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