Table 2.

Text of GeneScreen Negative-Results Report

Question	Response
What do normal/negative results mean?	This means that in the 17 genes that were tested, we found no medically important mutations.
How do these results impact my healthcare?	Your usual medical care should not change based on these normal/negative GeneScreen results. You should continue to follow your doctors’ recommendations for health screening based on general population guidelines and your personal and family medical history. If your personal or family history suggests that you may have a risk for any genetic condition, it is recommended that you see a clinical genetic specialist.
What type of test was done?	We conducted targeted sequencing and analysis of the 17 genes on the GeneScreen Research Study panel.
How accurate is this test?	The technology used in GeneScreen is expected to detect more than 90% of the people who have a mutation associated with one of the GeneScreen conditions. Thus, in rare cases, a person may have normal/negative GeneScreen results, but still have a GeneScreen condition. This is due to the limitations of the test used in this research study. If the GeneScreen research test had identified a mutation, a second test would have been used to confirm the presence of the abnormal/positive result. This would help to ensure the highest accuracy of an abnormal/positive GeneScreen result.
What are the limitations of this test?	This test only looks at certain preventable genetic health conditions. There are other genetic health conditions that this test does not look for. This test looks for mutations in 17 genes known to be associated with the GeneScreen conditions. It does not find all the possible causes of these conditions. Only mutations that are currently known to be harmful and medically important are reported.