A comprehensive approach to evaluating the clinical utility of genome sequencing in rare disease: A large prospective Canadian cohort.
WHY IT MATTERS
If you have an undiagnosed rare disease, this research shows that whole genome sequencing can help your doctor find answers and change your treatment plan — and it may also reveal important genetic information for your family members.
Researchers in Canada studied 715 patients with rare diseases who had their entire genome sequenced (a test that reads all of a person's genetic code). The study found that genome sequencing helped doctors in many ways: it confirmed diagnoses in some patients, changed how doctors treated 36% of patients, found new research opportunities, and identified genetic information that relatives should know about. The test also helped doctors avoid unnecessary tests in 88% of cases.
A comprehensive approach to evaluating the clinical utility of genome sequencing in rare disease: A large prospective Canadian cohort. Abstract: We characterized dimensions of clinical utility in a prospective, observational cohort of patients with rare diseases undergoing genome sequencing (GS). Clinical utility data (diagnostic, clinical management, and research recommended, avoided, or pursued for index cases and relatives) were collected from medical records and summarized using descriptive statistics. A multivariable regression model characterized factors associated with each type of utility, reported as odds ratios with 95% confidence intervals. Among 715 cases who underwent GS, results triggered diagnostic investigations in 17.5%, clinical management activities in 35.8%, research opportunities in 30.8%, and genetic counseling/testing for relatives in 19.0%. Results also limited diagnostic investigations in 87.9%. Regression Authors: Shickh et al. Journal: Genetics in medicine : official journal of the American College of Medical Genetics MeSH: Humans, Male, Female, Rare Diseases, Prospective Studies, Canada, Whole Genome Sequencing, Genetic Testing, Adult, Middle Aged
ASK YOUR DOCTOR
Ask your doctor whether whole genome sequencing might help diagnose your condition or guide your treatment, especially if you've had symptoms for years without a clear diagnosis.