Technological advances in molecular genetics are revolutionizing the way medicine is practiced. The recent discovery of genes responsible for the inherited predisposition to hereditary breast, ovarian, and colon cancers will enable some high-risk individuals to receive more accurate information about their risk status. Because the ethical, legal, and psychosocial implications of testing and counseling for inherited cancer risk are substantial, adequate genetic counseling must accompany any genetic testing program [1-4].
Clinical investigations, supported by the Ethical, Legal, and Social Issues (ELSI) branch of the Human Genome Project, are underway, with the goal of determining how best to conduct the educational and counseling elements required in genetic testing for inherited cancer risk . Furthermore, standards are currently emerging for familial cancer risk counseling that can be conducted regardless of whether or not genetic testing is feasible or desirable in a particular situation.
The genetic counselor may provide a valuable service within an oncology practice that seeks to undertake familial cancer risk counseling. Presented here is an introduction to the genetic counselor as a member of such a team.
Familial cancer risk counseling (FCRC) is a communication process between health-care professionals and an individual concerning the occurrence, or risk of occurrence, of cancer in his or her family . Familial cancer risk counseling is comprehensive in scope and includes a strong emphasis on the familial nature of cancers and the analysis of genetic and related risk factors.
A wide variety of activities may be included under the umbrella of FCRC (Table 1). Minimal elements that should be addressed are documentation of all cancer diagnoses in the family, provision of general cancer and genetic information, health promotion, supportive and/or grief counseling, determination of suitability for genetic testing, and referral for further services as indicated. More detailed information on each of these elements can be found in the flowchart in Figure 1 and in the sections highlighting individual components of FCRC.
What Genetic Counseling Entails
Genetic counselors are increasingly joining, or offering consultation to, oncology practices that are interested in addressing the special needs of individuals at increased risk of developing cancer due to familial factors. Genetic counseling has been defined as "a communication process which deals with the human problems associated with the occurrence, or risk of an occurrence of a genetic disorder in a family. " This process involves helping the individual or family to:
- comprehend the medical facts;
- appreciate the way heredity contributes to the disorder, and the risk of recurrence in specified relatives;
- understand the alternatives for dealing with the risk of occurrence;
- choose among alternative courses of action; and
- make the best possible adjustment to the diagnosis of the disorder in an affected family member and/or to the risk of recurrence of that disorder.
Most persons who perform genetic counseling have professional training at the MD, PhD, or MS level, and are certified by professional organizations, such as the American Board of Medical Genetics and American Board of Genetic Counseling. Professional societies, such as the National Society of Genetic Counselors (NSGC) and International Society of Nurses in Genetics (ISONG), can be contacted for referrals. (NSGC Executive Office: 233 Canterbury Drive, Wallingford, PA 19086, telephone: 610-872-7608; ISONG: 3020 Javier Road, Fairfax, VA 22031, telephone: 703-698-7355).
Genetic Education, Medical Advice, Genetic Counseling, and FCRC
Familial cancer risk counseling involves a combination of services, including genetic education, genetic counseling, and medical advice. Although the FCRC practice usually involves a seamless blending of these components, it may be helpful to consider the essence of these components individually before returning to the process in which they are combined.
Genetic Education--Persons dealing with genetic diseases, such as hereditary cancer, must assimilate a great deal of new information that is complicated and abstract. The genetic counselor can simply and clearly explain principles of medical genetics, patterns of inheritance, and an appreciation of probability. General education can also be offered regarding cancer epidemiology, the multistep process of cancer, and the spectrum of disease presentation, diagnosis, and treatment.
The counselor can define and illustrate chromosomes and genes, show examples of chromosomal karyotypes, and review pedigrees demonstrating the different modes of inheritance and how Mendelian recurrence risks are derived from those inheritance modes. Environmental factors that interact with genetic factors in a non-Mendelian fashion can be discussed in the context of the multifactorial mode of inheritance. In teaching family members the language and concepts of cancer genetics, the counselor can help them formulate a conceptual framework that will pave the way for future information and decision-making, as well as empower and encourage them to become active participants in their health care.
Health Promotion--Genetic counselors are joining physicians, health educators, and oncology nurses who have been actively providing health promotion information about cancer prevention and detection. Examples include promotion of healthy lifestyle with nutritional and exercise components, smoking cessation programs, and cancer screening programs, such as prostate, breast, skin, and cervical screening. As will be discussed later, the family with a hereditary cancer syndrome may require more information and encouragement than does the general population.
Medical Advice--Helping the family comprehend the medical facts about hereditary diseases is one of the important tasks of the genetic counselor. Although giving medical advice is generally outside the scope of practice of the genetic counselor, there are instances in familial cancer risk counseling in which the genetic counselor may be the person to convey or clarify medical facts.
The counselor working as part of the medical genetics team can also assist the family in implementing specific medical recommendations. For example, the counselor may relay and discuss standardized medical recommendations for surveillance and treatment, explain them to the family members in lay terms, help the family prioritize and implement these recommendations, provide input into developing new guidelines, actively promote healthy behaviors, coordinate medical appointments, and facilitate referrals.
Counseling is a word that has very broad and multidimensional uses in the medical setting. Sometimes "counseling" is the umbrella term used to refer to all communication processes with the patient. However, in genetic counseling, the term has specific content and process. Several selected areas in which the genetic counselor incorporates active counseling include patient psychosocial assessment, anxiety reduction, grief counseling, enhancing adaptation to current medical stressors, facilitating decision-making about genetic testing and other difficult issues, and supporting follow-through of medical recommendations.
The modern genetic counseling process generally involves a nondirective approach to discussing, in a nonjudgmental fashion, the use of genetic information for reproductive decisions. This tradition emerged after World War II in response to the strongly eugenic policies and practices of genetics professionals earlier in this century, which lended support to forced sterilization and stigmatization of the "genetically unfit." Nondirective genetic counseling is used in situations in which options are similar in risk and benefit, or are considered experimental, controversial, or without adequate empiric evidence of benefit. Genetic susceptibility testing and prophylactic surgery are controversial issues in FCRC for which a nondirective approach may be still appropriate.
Recently, the appropriateness of the nondirective approach to genetic counseling has come under scrutiny [7a]. Generally, the nondirective approach seeks only to assist the patient in recognizing how his or her own values fit with a particular decision. In certain areas of FCRC, the counselor takes a more directive stance than in reproductive counseling because available screening, prevention, or early detection options may be clearly superior to other options. For example, it would be inappropriate to present colonoscopy screening as optional for a person at high-risk for hereditary colon cancer. Rather, this would be presented as a medical recommendation from an appropriate specialist. The counselor may then work with the individual regarding following through with these recommendations.