Genetic Testing for Your Patients: Navigating the Complexities

By Charis Eng, MD, PhD

Without a doubt, the role of genetics in healthcare is expanding. Diagnostic and predictive genetic testing is used increasingly to help physicians and their patients understand risk for certain diseases, and take action when possible.

The Center for Personalized Genetic Healthcare (CPGH) investigates genetic diseases caused by somatic mutation (alterations in genetic material, DNA, genes and chromosomes) and germ line mutations (inherited mutations), and provides comprehensive clinical genetic services, education and support to patients and family members. Our geneticists and genetic counselors work closely with primary care providers and specialists to help incorporate genetic information into a patient’s overall healthcare plan.

Throughout CPGH’s defined four-step genetic testing process, our highly trained and compassionate genetic counselors help your patients navigate the complexities of genetic testing, translating complicated data into information your patients can readily understand.

When referral is indicated

Referrals are made when a patient or family member is diagnosed with cancer or other diseases at a young age, when a patient presents with features of a genetic or inherited condition or with a family history of such a condition, or when a patient with a strong family history of a disease or predisposing ethnicity has questions about genetic testing. Children may be referred to genetics due to developmental delay, autism, birth defect, genetic syndrome, etc. Pregnant women and couples considering starting a family are referred to genetics for preconception or prenatal risk assessments.

We offer services in the following areas:

• Adult Genetics
• Pediatric Genetics
• Cancer Genetics
• Cardiovascular Genetics
• Neurogenetics
• Preconception and Prenatal Genetics
• PTEN/Cowden Multidisciplinary Clinic
• Paraganglioma and Pheochromocytoma Multidisciplinary Clinic
• Pharmacogenomics Clinic

First step: Assessment

The genetic testing process at Cleveland Clinic begins prior to the first appointment. Patients provide detailed family health information, focusing on which family members have been diagnosed with which genetic or developmental condition, at what age and if/when family members have died from the disorder/s. For genetic assessments related to cancer, we use a specialized online Cleveland Clinic form called MyFamily. The family history allows genetics counselors to identify patterns of inheritance.

During the initial appointment, the genetic counselor reviews findings and completes the patient’s medical history. A physical exam may be performed by the medical geneticist to look for syndromic features such as hand length, arm span, ear length or head circumference.

Step two: Consultation

With the risk assessment completed, the genetic counselor, often in conjunction with a medical geneticist, determines if genetic testing is advised, which gene test or tests are appropriate and which are unnecessary. Genetic counselors provide a great deal of education and counseling prior to and after testing, helping patients understand and think through their options. They explain basic genetics and describe conditions being investigated.

They also help patients understand how, if a genetic condition is confirmed, it may impact emotions, relationships and family. Some patients want to know their risk, even when effective treatments for the condition do not yet exist, while other patients would rather not know in that circumstance. Genetic counselors are adept at communicating sensitive genetic information to patients and relatives, taking into account family dynamics and individual coping styles. They also discuss costs and insurance. The decision to pursue testing is personal, and genetics counselors help guide patients and families in the sometimes difficult decision-making process.

Step three: Testing

Generally blood is drawn the same day at one of our Cleveland Clinic laboratories. Results may take two weeks to four months, depending on the extent of testing.

Step four: Post-test genetic counseling

Gene test results are discussed with the patient by phone or during a follow-up appointment with a genetic counselor, as part of the standard of care. Next steps may include additional testing, testing of other family members and discussion of gene-informed medical management issues.

If a test result shows a genetic mutation, we carefully discuss future risks and prevention options and formulate an individualized medical management plan based on the specific mutated gene in the context of personal and family history.

For example, if a patient tests positive for a BRCA breast cancer mutation, we review the statistical risk of developing breast and/or ovarian cancer and their ages of risk; discuss high-risk surveillance (e.g., breast MRI); prevention options, including surgery; and recommend that other family members be screened. We take time to address patient concerns and answer questions from relatives. We work closely with the patient’s primary physician.

If a research opportunity is available, we discuss risks, benefits and limitations of participation. We also provide ongoing care for patients with genetic conditions, coordinate multidisciplinary medical appointments and help patients access resources related to their condition.

How to refer a patient for genetic testing

To refer a patient, please call 216.636.1768 or 800.223.2273, ext. 61768, or schedule an appointment online. Cleveland Clinic physicians use the EPIC system to refer, placing an order for “consult to genetic counseling.” If you are referring a patient from outside of the United States, please visit Global Patient Services.

We are committed to communicating in a timely fashion with our referring physicians.

Through careful research, we are identifying more and more genetic mutations that cause diseases and syndromes. Our Cleveland Clinic Center for Personalized Genetic Healthcare is committed to staying at the forefront of this promising area of healthcare.

Dr. Eng is Chair and Founding Director of Cleveland Clinic’s Genomic Medicine Institute and founding Director of its Center for Personalized Genetic Healthcare.