Duke offers a spectrum of genetic and genomic tests for a variety of individuals and circumstances. Our clinicians consider the results of these tests in conjunction with other clinical information to make more informed patient-management decisions.
Disease Predisposition Testing
Genetic disease predisposition testing can provide useful information about a person's risk of developing medical conditions such as heart disease, cancer and diabetes prior to the onset of disease. The information gleaned from such tests can help guide health behaviors and preventive screening.
Genetic testing can be divided into two types: testing for uncommon, inherited disorders whose primary cause is genetic; and testing for genes that contribute, but play a much smaller role, to common, complex diseases.
Duke Medical Genetics offers comprehensive Clinical Genetics Services for uncommon, inherited genetic disorders including diagnosis, management, treatment, and genetic counseling. Multidisciplinary specialty clinics are available for inborn errors of metabolism, Down syndrome, Fragile X syndrome, DiGeorge syndrome, eye diseases, and others.
Most common diseases, on the other hand, have complex genetic causes, which we are only beginning to understand. Genetic factors discovered to date for complex diseases, such as heart disease, diabetes and cancer, typically are not very good at predicting disease. They can tell you if you have an increased or decreased likelihood of developing the disease, but the risk associated with these genetic variants is typically very small. (There are some exceptions, such as the genetic tests for BRCA1/2 for predicting breast and ovarian cancer.)
Testing for genetic variants that increase your risk of common, complex diseases is not routine, but testing is available through Duke's Executive Health Program and outside of Duke through several companies that offer direct-to-consumer genotyping across the genome. Read more about the pros and cons of these products.
For more information about genetic tests offered outside of Duke, including gene/disease reviews, a laboratory directory, and a clinical directory, visit GeneTests.org or talk with your physician.
Genome-Guided Clinical Care/Pharmacogenetics
Genome-guided clinical care uses an individual's genomic biomarkers to help determine whether a person is likely to respond to a given therapy, avoid toxic side effects from drugs unlikely to work, and adjust the dosage of drugs to optimize their efficacy and safety.
The information gleaned from this kind of pharmacogenetic testing can influence the types of drugs and dosages a physician prescribes to a particular patient.
For instance, the FDA recommends that patients undergo genetic testing before they are prescribed the blood thinner warfarin. Duke's Clinical Molecular Diagnostics Lab offers genetic testing for two genes, VKORC1 and CYP2C9, that are associated with different sensitivity to this drug, to help your doctor make decisions about the dose that is right for you depending on your genotype.
A complete list of valid genomic biomarkers in the context of approved drug labels is available on the FDA Web site.
Updated summaries of the validity and utility of available genomic tests can be found on the PLoS Currents website.
Most genetic, genomic, and molecular testing at Duke is conducted through our Clinical Molecular Diagnostics Laboratory. This College of American Pathologist (CAP) accredited, CLIA-certified, state-of-the-art, multidisciplinary laboratory is dedicated to providing patients and physicians with comprehensive and accurate molecular testing.
The laboratory provides a wide range of DNA- and RNA-based tests for inherited genetic diseases, hematologic malignancies, and infectious diseases. A complete list of tests offered at Duke can be found here.
New pharmacogenetic tests regularly arrive on the market, and experts continue to debate the value of specific tests. Duke has formed a Genome Testing Advisory Committee to provide balanced recommendations to clinicians. (See below for more information.)
Personalized Guidance
If you are concerned about your genomic or genetic health risks, speak with your doctor or nurse to find out if there are steps you can take to address your unique health risks—such as modifying your diet or improving your fitness level—or whether you might benefit from more specific prevention plans, including medical screening and testing.
Again, it is important to keep in mind that Duke clinicians use the information gleaned from genetic and genomic testing along with other types of clinical information in making decisions about patient care. Information from these tests reveals only part of a patient’s overall clinical picture.
Insurance and Referrals
Insurance companies may cover the cost of genetic and genomic testing partially or in full. Check with your insurer for coverage specifics before tests are scheduled.
Some of Duke's genetic- and genomic-evaluation services require that patients be referred by a physician, while others do not. In addition, some types of genetic and genomic testing are available only within the framework of a clinical study; others are offered clinically. Check with the appropriate Duke programs for details.
Genome Testing Advisory Committee
In 2009 Duke become one of the first health systems in the nation to create a formal committee to advise its clinicians about which of the growing list of genetic and pharmacogenetic tests on the market should be routinely offered to Duke patients.
The Genetic Testing Advisory Committee evaluates available tests on everything from their analytic validity—how accurate and reliable the test is—to their clinical or personal utility—what an individual has to gain from the test.
The multidisciplinary committee includes faculty from molecular diagnostics, clinical informatics, human resources, oncology, cardiology, pediatrics, primary care and pharmacy. It is co-chaired by Scott Joy, MD, and Geoffrey Ginsburg, MD, PhD.
On Other Sites
Learn about genetic testing services through Duke's Clinical Molecular Diagnostics Lab
Learn about the validity and utility of available genomic tests at PLoS Currents
