As medical researchers continue to unlock the secrets of the human genetic code, they are discovering that most diseases have a genetic component. This finding has led to the development of genetic tests for over 3,000 diseases, of which roughly 2,000 have become available as tests of clinical value.
In the clinical setting, genetic testing may involve analyzing a single gene to diagnose a specific disorder, such as muscular dystrophy. Having knowledge of specific mutations (pathogenic variants) in particular genes may be used to inform medical management and treatment strategies in individual patients. For example, if a patient is diagnosed with epilepsy, knowledge of their particular genetic mutation may dramatically change their treatment course and subsequently the progression of their disease. Without this knowledge, the patient’s symptoms may worsen or lead to treatments that are ineffective or even toxic to the patient.
When working with a patient who is suspected to have a genetic disease, it is important to proceed carefully: Genetic counseling is often highly recommended in cases involving testing minors, prenatal testing, adult onset disease in patients not currently presenting with symptoms, and at times imperative in cases such as Huntington disease testing and cancer testing. Such counseling is a vital part of an overall genetic testing process. Pre-test counseling may allow for the best testing strategy to be developed, set expectations for clinicians and patients, and provide information about various testing aspects such as billing and reimbursement.
Post-test counseling is equally important to manage the emotional responses to test results whether they are positive, negative and especially when the results are uncertain. Finally, the resulting genetic information is often medically complex so discussing their implications for the patient and family becomes crucial.
Defining genetic counseling
Genetic counseling helps patients as well as healthcare providers navigate the rapidly evolving world of genetic disease and testing. Genetic counselors may serve as patient educators and advocates as well as a genetic testing resource to clinicians by translating often complex medical and scientific knowledge into practical information which is used to make important medical decisions. For example, a patient who is at risk for inheriting a neuromuscular condition may want to know what her chances of actually developing the disease may be, whether it could be passed on to her children, and what medical treatment options exist. Genetic counselors are uniquely qualified to address the scientific, emotional and ethical implications of testing.
4 reasons why genetic counseling is important
1. Choosing to be tested or not
Genetic counseling enables patients to make educated decisions regarding genetic testing. Some patients may opt to pursue testing while others may choose to delay the knowledge of their carrier or diagnostic status. Genetic counselors discuss the risks, benefits and limitations of testing as well as the implications of genetic results for the patient as an individual and the family.
A number of factors are taken into consideration when opting for genetic testing. Genetic counselors assist in this process by obtaining three-generation family histories, detailed medical histories, and review previous testing and studies to assess the most appropriate genetic testing strategy for patients and families. At times this may mean that single gene testing will be ordered for one patient while testing a panel of genes may be more suitable for a different patient presenting with a similar condition.
3. Professional, emotional support
Knowledge of a negative genetic result or even that one is a carrier of a disease can at times be as devastating as a positive result. A significant time is spent in pre-test as well as post-test counseling sessions to prepare the patient and family for testing results and their implications. When a patient learns that she, or her child, has a genetic disease, the emotional impact may make it difficult to process the medical and technical information that must be shared. Genetic counselors are uniquely qualified to help patients in times of crises to understand the medical implications as well as the psychological impact this may have. For example, someone who is a carrier for a specific disease in all likelihood will never develop that disease – this information needs to be shared and understood by the patient.
4. Provide information on treatment options
Genetic counseling may provide guidance and resources for finding the most appropriate medical management and treatment options. Patients may also be directed to clinical trials for their particular disease, advocacy groups, support networks and other ancillary services that will provide support.
When thinking of offering genetic testing to patients, provision of genetic counseling services along with a comprehensive genetic testing protocol enhances the quality of your medical care. Please consider providing genetic counseling services as part of your practice.