After 25 years of genetic counseling, I can think of many case examples that demonstrate the added value of genetic counseling and testing on patient care. Some are sad. For example, in the hospital I once saw a young, single, intellectually impaired woman who had given birth to a seriously ill infant with multiple congenital anomalies. After testing, the infant was found to have a complex chromosome disorder. Based on the diagnosis, we could counsel the family about the baby's poor prognosis, which helped the family make difficult but more informed decisions about the baby's continued care. (The baby died at 4 weeks). In addition, the mother was tested and found to have a chromosome rearrangement herself, which explained her intellectual disability and increased her risk to have future children with serious chromosome disorders. She was started on birth control and educated about her reproductive risks.
In another example, with a happier ending, Danny was a 10-year-old boy seen in his pediatrician's office for a routine sports physical. During the exam, his mother mentioned that Danny fainted last fall during a soccer game. The pediatrician also learned that the mother had fainted multiple times, and that several maternal relatives had died suddenly of "heart attacks." Danny's exam was otherwise normal, but because of the history, the pediatrician was considering a referral to cardiology to rule out Long QT syndrome (LQTS). The pediatrician called me to ask if he could order a genetic test for LQTS and save the mother a trip to the specialist.
I told him, "No, genetic testing is not a replacement for a diagnosis from a cardiologist," but that wasn't the end of the conversation. It's true that about 20% of individuals with clinical LQTS do not have a genetic mutation that can be detected by current testing, so a negative result is not a "true" negative. However, genetic testing can still be of benefit. A positive result could provide additional information about the severity of the phenotype and can help identify other family members who may be at risk. Once a genetic mutation for a disease has been identified in a family, other at-risk members can be tested for that specific mutation, saving both time and the cost of expensive long-term monitoring.
In yet another example, an obstetrician called me with a question about patient management after receiving a negative test result for hereditary breast cancer on one of his patients. He was wondering about surveillance. The patient was 40 years old, with a history of breast cancer at age 32 treated with lumpectomy and a maternal aunt and grandmother who developed breast cancer in their 40s. We discussed that the patient was still at high risk because of her personal and family history, even though the test came back negative.
The obstetrician then mentioned that he was glad he had ordered the "less expensive test" because it didn't change his patient's care. The "less expensive test" turned out to be the test for three mutations common in the Ashkenazi Jewish population. Unfortunately, his patient wasn't Ashkenazi Jewish. So, I recommended the correct test -- sequencing for the other thousands of mutations in BRCA1 and 2 -- and the patient tested positive for a BRCA1 mutation. She had bilateral prophylactic mastectomies and oophorectomy. Pathology on her ovaries revealed a stage 1 ovarian cancer. Surgery saved her life, but ordering the wrong genetic test to start with had delayed her diagnosis. Today, we would recommend testing using a gene panel that includes multiple genes associated with hereditary breast cancer.
Without the aid of a genetic counselor, patients will still get diagnosed and treated. However, you might miss the identification of other at-risk family members also in need of evaluation and monitoring. Genetic testing can be performed without involving a genetic specialist, but choosing the best test can be complicated, and the wrong choice may delay a diagnosis and ultimately be more expensive.
In addition, genetic test results are not always straightforward and easily interpretable. Genetic counselors are well equipped to discuss complicated results, including those of uncertain significance, with patients, families, and their healthcare providers. Genetic counselors may also be able to navigate the complexities of informed consent, privacy issues related to genetic information, and the psychosocial impact of a genetic diagnosis.
Today, patients are barraged by information on the influence of genetics and genomics on their health.
Genetic testing is now available directly to consumers through several companies, and it is becoming more common for a patient to come to his or her physician asking questions about a family history, genetic test, or a genetic test result. Currently, there are fewer than 4,000 genetic counselors, and even fewer medical geneticists in the U.S., but telemedicine and other alternative service models are increasing access, and most genetic specialists are happy and willing to answer questions.
A brief discussion with a genetic counselor can help save time, money, and anxiety for both you and your patients and their families. And if indicated, a referral to a genetic counselor will help the patient and family understand the impact and implications of genetic testing and test results.
Additional Resources
- Genetic counselors can be located through the page.
- Medical geneticists and genetic services are listed at the website.
- Genetic testing laboratories often employ genetic counselors to help guide healthcare professionals to the right test for the right person.
- The can field questions and for help finding educational and other genetics resources.
Karen Hanson, MS, MBA, is a board-certified genetic counselor with over 25 years of experience in clinical and non-clinical roles, working mainly in pediatric and cancer genetics, including as the first program director for University of Maryland's Masters in Genetic Counseling program. She is also a consultant and writer for an education-based nonprofit, and is medical science liaison for a genetic testing laboratory. In 2007, she received her MBA from Loyola College in Maryland. Currently, she is the senior manager for Education Programs at the American Society of Human Genetics.