Suppose a new patient walks into your office for a routine physical examination. As part of your discussion, you ask about her family history. She relates that her grandmother and uncle had colon cancer.
You know that colon cancer can be hereditary, but you are unsure whether this patient’s family history is significant. You know genetic testing can be ordered, but you only have 15 minutes with the patient and you are unsure which test is appropriate and how it can be ordered. What should you do next?
With advances in genetics and genomics have come expectations that health care providers understand and apply these discoveries to patient care. Identification of a genetic diagnosis can lead to personalized treatment and intensive screening, which can reduce the patient’s risk of contracting the disease in question or dying of it.1,2 But genetic testing may also take patients on an emotional journey as they adjust to learning new information about themselves and the health care implications such a diagnosis may have for themselves and their family members.
Genetic counseling is an important component of risk assessment and testing. With increasing demands and shorter appointment times, physicians are finding it harder to provide comprehensive risk assessment and genetic counseling.3–5 Just as “physician extenders” have helped streamline various aspects of health care, genetic counselors can serve as partners to physicians, from helping determine which testing to consider to helping guide follow-up care after test results are received.
Genetic counselors can help not only patients who have a personal or family history of a hereditary condition, but also their physicians and family members. This article will explain the process of genetic counseling and testing, highlight complexities through case examples, and provide a brief review outlining which patients should be referred for genetic counseling.
WHAT IS GENETIC COUNSELING?
The National Society of Genetic Counselors defines genetic counseling as “the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.”6 The process includes:
- Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
- Education about inheritance, testing, management, prevention, resources, and research
- Counseling to promote informed choices and adaptation to the risk or condition.6
WHAT HAPPENS DURING A COUNSELING SESSION?
The goals and outcomes of a successful genetic counseling session (Table 1) reflect the need for genetic counselors to not only give patients enough information to understand what is being discussed, but also to monitor their emotional responses and respond to their needs for support.7 The components of a typical genetic counseling session include:
- Contracting (reviewing why the patient is here)
- Reviewing the patient’s personal medical history
- Documenting relevant diagnoses in the family history
- Educating about the condition in question and relevant basic information about genetics
- If testing is indicated, educating about what the test will and will not tell the patient
- If test results are being discussed, discussing the implications of the results for the patient’s management and the utility of testing for relatives
- Identifying additional sources of support and education for patients, such as disease-specific support groups
- Making sure the patient understands the information provided
- Monitoring the patient’s emotional and psychological reactions and responding appropriately.
Before the visit, which may last from 30 minutes to several hours, the genetic counselor reviews the patient’s available medical information, performs a literature search covering relevant topics, and prepares supporting educational resources such as visual aids. After the visit, the genetic counselor contacts the patient to discuss the results of any tests ordered, makes sure the follow-up plan is clear, and arranges return visits if these are indicated. Studies have shown that these nonbillable patient-related activities take at least as much time as the actual patient visit.8,9
EVIDENCE THAT GENETIC COUNSELING IS BENEFICIAL
Although genetic counseling may be time-consuming, its benefits to patients have been proven in a number of studies.
Improved patient knowledge. Three controlled trials found a significant increase in knowledge about cancer genetics in patients who received genetic counseling as part of their clinical services.10–12 Additionally, a large prospective multicenter study found a continued significant increase in cancer genetics knowledge in women who had received genetic counseling for inherited breast cancer risk 1 year earlier.13
More accurate perception of risk. A meta-analysis of three studies found a significant increase in the accuracy of breast cancer risk perceptions among women who had received genetic counseling.14
Improved psychosocial outcomes. Anxiety was reduced in 82% of parents who received genetic counseling after screening of their newborn was positive for hemoglobinopathy trait.15 And 1 year after genetic counseling, parents of patients with psychotic disorders reported reduced anxiety as a result of an increased understanding of accurate recurrence risks.16
Improved risk-reducing behaviors. Increased genetic counseling support led to improved communication and increased contact with genetics services for at-risk family members.17 Genetic counseling also led to higher rates of mammography, clinical breast examination, and breast self-examination.18