In the not-so-distant future, whole-genome sequencing — determining your entire unique DNA makeup in the laboratory — will be as routine as X-rays and cholesterol testing. The challenge, though, is in interpreting the vast amount of data generated by genomic sequencing and effectively using it to guide decisions about your health care.
Improving patient care by turning genomic research into real-world personalized medicine applications, particularly new and better genomics-based diagnostic tests, is the goal of the Clinomics Program. The program builds on Mayo Clinic's culture of collaboration and research to create and refine such tests and bring them to patients as quickly as possible.
With these new tests in hand, your doctor will be able to quickly and effectively search your genetic code for clues that help him or her diagnose and optimally treat your condition — or keep you healthy by preventing future disease.
The Clinomics Program includes the Individualized Medicine Clinic, ongoing translational research projects and a request for application (RFA) program for advancing the science. The RFA program funds next-generation sequencing and early-stage bioinformatics services for Mayo Clinic investigators who are conducting clinical studies and research projects.
Individualized Medicine Clinic
The Individualized Medicine Clinic uses whole-genome sequencing and whole-exome sequencing as tools to make diagnoses and recommend appropriate treatments for patients.
We take a team approach in the clinic, with physicians, genetic counselors, laboratorians, bioinformaticians and bioethicists working together to solve certain types of extremely challenging cases.
The Individualized Medicine Clinic today offers two services for patients:
- Advanced cancer. This service is for people with advanced, metastatic cancer who have exhausted all treatment options that have proven survival benefits. Whole-genome sequencing or whole-exome sequencing of their normal DNA and tumor DNA may be used to identify genetic alterations (mutations) that are causing the cancer or complicating it. This information is then used to find available treatments that can target those mutations.
Rare and undiagnosed diseases. This service is for people who have a possible genetic condition and have undergone previous genetic testing, but still have not received a clear diagnosis. These are sometimes known as "diagnostic odyssey" cases.
This includes patients with an early-onset disease or a syndromic disease of unknown etiology, as well as those whose family history suggests their condition has a genetic basis. Whole-genome sequencing or whole-exome sequencing may be used to discover the genetic alterations that contribute to disease development or might influence treatment.
Hereditary Colon Cancer Test
The Clinomics Program, along with the Department of Laboratory Medicine and Pathology, has developed a comprehensive diagnostic panel of 14 hereditary colon cancer genes using next-generation sequencing technologies.
For the first time, clinicians can now order a single test when pursuing a diagnosis of hereditary colon cancer. Previously, Mayo ran individual tests for the five genes most frequently mutated in hereditary colorectal cancer cases. Other genes known or suspected to play a role in the disease could be tested by various labs around the world, but nowhere comprehensively.
The new hereditary colon cancer test has a cost comparable to ordering just three independent DNA sequencing assays using standard technologies.
Whole-exome and Whole-genome Sequencing Data Analysis
Many questions remain about how whole-exome and whole-genome sequencing are best used in patient care. To begin answering them, we have been conducting many projects that analyze whole-exome and whole-genome sequencing data from Mayo Clinic Biobank samples.
As is being shown through care in the Individualized Medicine Clinic, analysis of these data will continue to improve how we:
- Determine which variants and findings are clinically relevant and actionable
- Share results concisely and effectively with clinicians and patients
- Address bioethical considerations as they arise
The data are also being used to compare different genomics sequencing approaches and determine which are most suitable for clinical applications.