Many patients and their families search for years for answers to undiagnosed medical conditions, hoping for a diagnosis and treatment to help relieve often debilitating symptoms. Some of these patients may be candidates for whole exome sequencing, a genetic test that looks at the estimated 20,000 genes that may give us an answer to the cause of a condition. Who should have this type of genetic testing? What will patients and their families learn from the test results? How will the results impact future medical care for the patient and their family members?
These are all questions that Teresa Kruisselbrink, M.S., a genetic counselor in Mayo Clinic Center for Individualized Medicine answers in her presentation "The Patient Perspective: Diagnostic Exome Sequencing.” The presentation is part of Mayo Medical Laboratories’ Profiles in Genetics Series.
“Whole exome sequencing can reveal the underlying genetic cause and diagnosis for approximately 30 percent of the patients who are tested. Unlike other diagnostic testing, genetic testing has an impact on both the patient and the family. That’s why we work closely with patients and their families to help them understand the benefits and limitations of this testing tool. We may find answers; we may find nothing; and we almost always find genetic variations that we cannot yet explain. The three patient stories I share in the presentation provide an insight into the emotional reactions of patients and their family members after receiving results. These emotions range from relief from finding a diagnosis to disappointment about the limits of available treatments,” says Kruisselbrink.
View the presentation.
Find out more about how genetic counselors and medical geneticists help patients navigate genetic testing
Learn more about individualized medicine
Join us at Individualizing Medicine 2017: Advancing Care Through Genomics. The Mayo Clinic Center for Individualized Medicine, with support from the Jackson Family Foundation, is hosting the sixth annual genomics conference, October 9–10, in Rochester, Minnesota.
Tags: #rare diseases, #rare genetic diseases, center for individualized medicine, DNA Sequencing, Genetic Counseling, Genetic Testing, mayo clinic, Precision Medicine, Teresa Kruisselbrink, whole exome sequencing