Knowledge Is Power – Questions and Answers Regarding Genetic Counseling, Testing

Genetic counselors are specially trained, board-certified medical professionals who specialize in genetics education, risk assessment, and counseling about genetic conditions and their effect on individuals and families. They can help you understand the complex tests available. If you choose to have genetic screening or testing, they can interpret and explain your results. Genetic counselors can describe how a particular genetic condition runs in a family, and give specific information about the risks of inheriting or passing on a genetic condition. They can identify appropriate medical specialists, treatments, research, educational resources, and support groups. Some genetic counselors are laboratory-based and may provide genetic counseling specific to a genetic test, while others are involved in research studies.

Medical geneticists are board-certified physicians involved in the diagnosis and management of genetic conditions. There are laboratory-based geneticists who develop and interpret genetic tests, and clinical geneticists who specialize in the diagnosis, management, and treatment of medical conditions that are caused or influenced by genes, such as birth defects, Down syndrome, neurofibromatosis, Fabry disease, and Lynch syndrome. They provide care to patients from the prenatal period through adulthood.

Genetics is a rapidly evolving area of medicine. As our understanding of human genetics improves, so does our ability to apply basic science discoveries to the improvement of health. Medical geneticists and genetic counselors stay informed of this large amount of information and play a key role in bringing this important medical science to patient care. As the country’s ‘genetic literacy,’ or basic understanding of the science of genes, continues to increase, we will be hearing more and more about medical genetics.

Genetic testing can be used to confirm some types of suspected medical diagnoses, which can help you and your doctor be sure about your condition. Sometimes, knowing not only the type of condition, but also the specific gene or genes responsible, and even the particular change within that gene, can allow for individualized prognosis, medical management, and treatments. For example, a particular type of muscular dystrophy may be inherited in a certain way and be responsive only to one type of therapy or drug.

Another benefit of genetic testing is the ability to test individuals who are at risk for a condition because of their family history. Sometimes it is possible to determine if you will or will not develop the condition in the future. You may strongly believe that you will develop a condition because of your family history but, through genetic testing, learn that you are very unlikely to develop the condition. Alternatively, you may learn that you are at high risk to develop the condition, and this may spur you to proactively plan for, and in some cases treat, the condition before symptoms develop.

To benefit from genetic testing, it is very important to consider how the results will affect you and your decisions. What would or could you do differently with the information provided by genetic testing? If the results will not lead to any changes, then genetic testing may not be appropriate for you.

Since each genetic counseling session is tailored to a patient’s specific issue, the genetic counselor first finds out what your questions and concerns are. Education about specific conditions, risks, tests, and options is provided. A detailed family history is usually an important part of the visit. Risk assessment is often discussed, such as the actual chance that a genetic issue will affect you or your family. Genetic testing is complicated, and the genetic counselor can talk about the possible role of testing. Reviewing what was discussed and putting together a plan for next steps is the final element of each session. We provide the information and guidance, but it is the patient who must ultimately determine the appropriate next steps for him or her.

If you decide to be tested, then an evaluation by a clinical medical geneticist is the next step. As part of the evaluation, you or your child’s medical and family history will be reviewed. A specific physical exam, sometimes focused on subtle findings, will typically be performed. Any testing that has already been performed will be reviewed. The possibility of a genetic cause or influence will be carefully considered. Sometimes, additional evaluations will be recommended. Genetic testing may be discussed and performed. If the diagnosis is known, then issues and recommendations specific to that condition will be discussed and shared with you and your doctors.

Genetic testing is usually performed on a blood sample. In some cases, a swab of the inside of your cheek, or a collection of saliva, can be used. In other cases, a small biopsy of skin or other tissue may be necessary. In many cases, the provider ordering the testing will obtain informed consent from you, making sure that you understand what the test is for and what the results are expected to show. This may be done as part of a conversation, or there may be written consent that you will be asked to review and sign. The results may take some time to come back, usually weeks and sometimes even as long as months. You will make a plan for how to receive your results.

The results of genetic testing should be discussed with a medical professional who understands the test and can interpret the meaning of the results for you. Having a copy of the results for your own files is recommended. It may be important for you to share this information, and sometimes a copy of the specific results, with family members. If you need any additional help understanding the results, you should find a genetics professional.

Testing can have positive and negative effects. Sometimes, genetic information can take a tremendous toll on individuals and families. Medical geneticists and genetic counselors are trained to provide direct support and can identify additional resources as necessary. In most cases, however, genetic information can be used to improve well-being.

Our genes influence our health substantially, but other things greatly affect our health as well, such as the medical decisions and lifestyle choices that we make. Knowing genetic risks can help individuals make good decisions based on their specific situation, ranging from preventive screening (such as more frequent colonoscopies), specific medical treatments (such as medications and surgery), reproductive choices (such as pre-implantation or prenatal diagnosis), and lifestyle decisions (such as avoiding smoking and maximizing diet and exercise).

Genetic testing can be quite expensive, ranging from hundreds to thousands of dollars. In most cases, when the results of the testing will change medical care for an individual, insurance companies will cover the cost. The cost of genetic testing has decreased substantially over the years, and, as laboratory and other bioinformatics technologies improve, we expect that costs will continue to decrease.