As a frontrunner in advancing genomic and personalized medicine, Duke offers a comprehensive array of genetic and genomic tests -- and is leading the development of new tests and their integration into medical practice.

Perhaps most notably, Duke scientists have devised new methods for profiling cancerous tumors and applying those genomic "fingerprints" to select the therapies most likely to work for each individual patient.

The close proximity between Duke's research labs and medical center enables the translation of those discoveries directly into improved patient care via a series of ongoing clinical trials in cancers that include lung, breast, and prostate.

(This growing battery of advanced tests is expected to become available to all cancer patients treated at Duke. Stay tuned as we continue to expand our genetic and genomic testing efforts and services to include other patient populations, as well.)

It is important to remember that clinical genetic and genomic testing isn't just for people who are sick. It can be an important ingredient in assessing one's risk for developing some common health conditions, such as diabetes, heart disease, cancer, and blood-clotting disorders so that preventive measures may be taken. Duke experts are actively engaged in efforts to incorporate such tests into common medical practice.

These efforts to promote genomic medicine -- championed by investigators and members of the interdisciplinary Duke Institute for Genome Sciences & Policy in collaboration with the Duke Comprehensive Cancer Center  and others -- are a defining feature of Duke Medicine.

Types of Genetic and Genomic Tests

Duke offers a complete spectrum of genetic and genomic tests for a variety of individuals and circumstances and our clinicians consider the information they yield in conjunction with other clinical information to make more informed patient-management decisions. These tests can be broken down into four broad categories:

Genomic health-risk testing can provide useful information about a person's risk of developing medical conditions such as heart disease, cancer, diabetes, and vision loss. The information gleaned from such tests can help guide health behaviors and preventive screening.

Genomic health-risk testing is not diagnostic. In other words, it cannot determine whether a person has a particular medical condition-only whether his or her genomic makeup contributes to a higher-than-average likelihood of developing that condition.

Pharmacogenetic testing can provide information about whether an individual, based on his or her genetic composition, is more likely to have a positive or negative response to a specific drug.

The information gleaned from 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.

Genetic testing may be used to help identify underlying causes of developmental and/or medical problems, as well as to determine if an individual is at risk for developing or passing on an inherited genetic syndrome.

There are many genetic conditions or syndromes, including inherited forms of heart disease, dementia, cancer, and vision loss; sickle cell disease; blood-clotting disorders; and connective-tissue disorders such as the Marfan syndrome.

Genome-guided cancer care uses the unique genomic profile of a cancerous tumor -- rather than a genomic profile of an individual -- to assist physicians in identifying the treatment plan and/or drugs most likely to be effective for each individual patient.

If you are concerned about your genomic or genetic health risks due to your family or personal health history, 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.

Genetic and Genomic Testing at Duke Medicine

Duke Medicine is home to a number of genetic- and genomic-testing resources, including:

Primary Care Services

Some of Duke's primary care providers can evaluate and meet patients' genetic and genomic testing needs.

As the menu of available tests expands, our primary care physicians are engaged in efforts to explore the value of these tests -- such as those for common chronic conditions such as heart disease, breast and prostate cancer, diabetes, and blood-clotting disorders -- in developing personalized plans for patients to make healthy and appropriate lifestyle changes, pursue additional screening tests, and optimize medication management.

For more information about Duke Primary Care practices that are ordering and interpreting genetic test results, call Duke Primary Care Pickett Road or the Duke Family Medicine Center. If you are interested in participating in a study of genetic testing for diabetes risk in primary care, call 919-419-5920.

Medical Genetics Clinic

Although it is housed within the Department of Pediatrics, the Medical Genetics Clinic sees patients of all ages for genetic evaluation of uncommon and/or inherited developmental and medical concerns, as well to evaluate family history of a genetic condition.

The clinic conducts hundreds of different tests and offers dedicated programs in areas that include general genetics, cardiovascular genetics, autism, connective-tissue disorders, Down syndrome, Fragile X syndrome, and metabolic genetics. To learn more, call 919-684-2036

Hereditary Cancer Clinic

A component of the acclaimed Duke Comprehensive Cancer Center, the Hereditary Cancer Clinic (HCC) helps adults determine whether hereditary cancer syndromes run in their families. This involves discussion and in some cases, risk-assessment testing to identify changes in genes that increase one's odds of developing certain cancers.

Because several cancers can be caused by one such change -- and most cancers can be associated with a particular hereditary cancer syndrome -- the HCC sees patients who have or are concerned about developing virtually every type of cancer, with breast, ovarian, and colon cancers being the most common.

For more information, call 919-684-3181.

Fetal Diagnostic Center

A part of the Division of Maternal-Fetal Medicine, Duke Medicine's Fetal Diagnostic Center offers genetic counseling and education for pregnancy issues including advanced maternal age, abnormal tests and/or ultrasound findings, exposure to certain substances, thrombosis, multiple miscarriage, and infertility.

For more information, call 919-684-3604.

Ophthalmic Genetics Program

Staffed by a team of ophthalmic and genetic specialists -- including pediatric ophthalmologist Terri L. Young, MD, who has an interest in genetics -- the Ophthalmic Genetics Clinic provides coordinated interdisciplinary diagnostic and management services for individuals with a personal or family history of a hereditary eye condition.

To learn more, call 919-684-0584 and 919-684-9154.

Duke Executive Health Program

The Duke Executive Health Program offers several genomic health-risk assessments as well as a specialized family history risk assessment to participants of its comprehensive health-assessment program. These include familial genetic-risk assessments and genomic health-risk testing.

To learn more, call 919-660-6606.

Adult Cardiovascular Genetics Clinic

The Duke Adult Cardiovascular Genetics Clinic offers novel techniques for identifying and diagnosing adults with a wide range of suspected inherited cardiovascular conditions -- including hypertrophic cardiomyopathy, early-onset coronary artery disease, familial cardiomyopathy, long QT syndrome, and Brugada syndrome -- as well as blood-clotting disorders such as Factor V Leiden and vascular diseases such as the Marfan's syndrome.

The clinic also provides genetics education and counseling services for patients and family members, and an infrastructure through which patients and families may participate in related clinical research at Duke.

For more information, call 919-681-5816.

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.