While a patient’s DNA sequence will not change over time, our understanding of his or her sequence will change, especially given our improving knowledge of genomics and disease. With time, more variants will be recognized as disease causing and our understanding of currently identified variants may change. Reanalysis of patient exome or whole genome data may be appropriate in the future. Genomic tests are continuing to improve in quality over time and for some patients with a high likelihood of having a genetic disease there may be consideration of repeating the test with new methods.
This toolkit and its resources are meant to provide an introduction to genomic testing for non-genetics healthcare providers. While this guide is certainly not “the final word” on these kinds of test results, as the field is changing so rapidly, we believe it will provide useful guidance in understanding the results of today’s tests.