Cancer Genetics

Many patients and their healthcare providers are unsure about what to expect from a genetic counseling session. This outline is a general framework of what patients can expect from a genetic counseling appointment, although please keep in mind every genetic counseling appointment is different, depending on the patient family history, reason for referral, and patient concerns.

Cancer Genetic Counseling
Initial Intake
Pedigree
Risk Assessment

Education and Communication
Genetic Testing

GENETIC COUNSELING

Genetic counseling provides information and support to individuals and families who are concerned about, or may be at risk for, various genetic conditions. There are different types of genetic counseling including prenatal, pediatric, adult, and cancer genetics. In most cases the genetic counseling session includes:

Who Provides Genetic Counseling?

Genetic counseling is often provided by genetic counselors, who are nationally certified, masters-level professionals trained specifically in medical genetics and counseling. However other health care professionals may also provide genetic counseling, including clinical geneticists, oncologists, specially trained nurses, etc. These individuals have various levels of education in genetics, and frequently counsel patients within the scope of their practice.

CANCER GENETIC COUNSELING

Cancer risk assessment and counseling is a combination of medical, scientific, family and environmental information. Healthcare professionals discuss a patient's specific cancer risk factors and family history of cancer. They provide education, risk assessment, and genetic counseling. The information is based on a patient's family history, medical factors, environmental factors, reproductive history and life style choices. Patients learn about different risk factors for cancer, the inheritance of cancer risks, genetic testing, and management options. Genetic health professionals help patients make decisions that are right for them. Patients may also meet with other members of a healthcare team, including medical, surgical, and/or gynecologic oncologists, nurse practitioners, or mental health professionals.

Many centers have a genetic counseling program that requests specific information before the initial counseling visit. Other centers obtain this information during the counseling session. In most cases, the patient should expect to be asked some specific questions about their own medical history, their hormonal history, and their family history at some point during the genetic counseling process.

Genetic health professionals often would like to know specific information about the family history. This information may include the current ages of family members (including aunts, uncles, cousins, and grandparents on both sides of the family), and the cause of death of any family member who had died. Information about cancer diagnoses are also important, including what type of cancer the individual had, and how old the person was when the cancer was first diagnosed. Sometimes healthcare professionals will ask the patient try to get copies of the medical records for some of their family members. This is helpful to confirm specific diagnoses, or provide more information when a family member is unsure of a diagnosis. Occasionally even the affected relative is unsure exactly what medical/surgical procedure they had, or what their diagnosis was/is and medical records may be helpful.

One of the most important parts of genetic risk assessment is getting genetic information about relatives in a family. A pedigree is a type of family tree that allows genetic information to be presented in a simple picture and is often taken at (or before) a genetic counseling session. A complete pedigree is a record of a family's genetic information, and provides information that helps in the risk assessment process. It is important to realize that a pedigree is only as accurate and helpful as the person who is providing the information. This is why often a patient will be asked to research family history information before a genetic counseling session.

Click here to see an example of a pedigree.

Risk assessment often includes risk calculations based on cancer research. Risk calculations are used along with personal and family history information to help health professionals decide whether to offer a patient genetic testing. Some risk models help determine a patients chance of getting a certain type of cancer during the course of their lifetime.

Family History as a Risk Factor

Family history of cancer may be considered a risk factor and may affect a patient's cancer risk assessment. Some family history information that increases an individual's risk may not be obvious until specific questions are asked about the family history. In particular, several features are suggestive of a hereditary predisposition to cancer.

Additional Risk Factors

In addition to family history, other risk factors are also taken into account when performing a cancer risk assessment. Possible environmental exposures, lifestyle behaviors, and personal hormonal factors are all considered when assessing a patient's risk to develop cancer.

EDUCATION AND COMMUNICATION

In addition to taking the medical and family history, the genetic counseling process also addresses patient specific concerns, questions, risk acceptance and beliefs. The information gathered during the session is used to perform the risk assessment. The healthcare professional then discusses with the patient how the risk assessment affects the screening recommendations for the patient.

The option of genetic testing is offered, if appropriate, to individuals with a personal and/or strong family history of cancer. The pros and cons of genetic testing are carefully explored with the patient, and the patient is given the opportunity to have all of his or her questions answered. Issues such as the meaning of a positive genetic test result, as well as the meaning of a negative test result are discussed before any genetic testing takes place. Other topics such as insurance discrimination and the impact of the test results on other family members such as children or siblings are also discussed. The benefits and limitations of not having genetic testing are also reviewed with the patient as well, since genetic testing is not useful to everyone. Not every person who has genetic counseling is offered genetic testing, and even those patients for who genetic testing may be appropriate have the choice of deciding whether or not they want to have genetic testing.