Genetic counselors: Your partners in clinical practice
ABSTRACTAs our understanding of the human genome has grown, so too has the need for health care providers who can help patients and families understand the implications of these new discoveries for their health care. Increasingly, genetic counselors are working in partnership with physicians to provide a continuum of care from risk assessment to diagnosis. In this article, we explain the process of genetic counseling and its value for patients who have a personal or family history of a hereditary condition.
KEY POINTS
- The sequencing of the human genome has provided valuable information about the genetic causes of many conditions, but it has also uncovered tremendous complexities.
- Genetic counselors are master’s-trained allied health care professionals with specific expertise in identifying and educating patients at risk for inherited conditions.
- Genetic testing should not be ordered without informed consent and without appropriate counseling before and after the test.
- Huntington disease, which is inherited in an autosomal dominant manner, illustrates the need for genetic counseling before predictive testing.
- The National Society of Genetic Counselors (www.nsgc.org) and the American Board of Genetic Counseling (www.abgc.net) provide searchable databases of genetic counselors.
WHOM SHOULD I REFER?
Genetic counseling is available for patients and families in diverse settings within health systems. The six primary areas of practice are general, cardiovascular, cancer, preconception, prenatal, and pediatrics.
Patients with a personal or family history of a hereditary condition can benefit from genetic counseling regardless of whether they would be considered appropriate for genetic testing.34
At current count, there are 4,424 genetic disorders for which the underlying cause has been identified.35 Individually, each disorder is rare, but when they are considered as a whole, they affect a significant minority of the general population. It is estimated that before age 25 years, 53 (5.3%) of every 1,000 people will be diagnosed with a disease that has an important genetic component.36 From 20% to 30% of infant deaths are related to a genetic disorder,37,38 and 22% of unaffected adults have a family history of cancer significant enough to warrant a genetics referral.39 See Table 2 for a list of common indications for referral.
HOW CAN I FIND GENETIC COUNSELING SERVICES?
The National Society of Genetic Counselors (www.nsgc.org) and American Board of Genetic Counseling (www.abgc.net) both provide searchable databases of registered genetic counselors.
KNOWLEDGE CONTINUES TO EXPAND
Genetic knowledge continues to expand, and testing is becoming available for a growing number of medical conditions. Appropriate identification of individuals with and at risk for genetic disorders through the use of genetic testing and screening is a cornerstone of personalized medicine, with the ultimate goal of improving patient outcomes. However, in this era of value-based medicine and fewer health care dollars, genetic testing must be used in a way that maximizes its clinical impact with a careful fiscal approach.
Genetic counselors are specially trained health care professionals with expertise in genetic and genomic medicine who work in collaboration with physicians to guide patients through the complexities of heritable conditions and emerging technologies. They are trained to personalize, interpret, and communicate complex science into data that will assure best outcomes for patients and their families. Developing a partnership with the genetic counselors in your area can provide multiple benefits to your patients as well as to your own practice.
