A New Definition of Genetic Counseling: National Society of Genetic Counselors’ Task Force Report

The Genetic Counseling Definition Task Force of the National Society of Genetic Counselors (NSGC) developed the following definition of genetic counseling that was approved by the NSGC Board of Directors:

Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following:

•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.

The definition was approved after a peer review process with input from the NSGC membership, genetic professional organizations, the NSGC legal counsel, and leaders of several national genetic advocacy groups.

Appendix

#1: Genetic counseling is the process whereby an individual or family obtains information about a real or possible genetic problem.

—Hsia and Hirschorn (1979)

#2: Genetic counseling is the process of evaluating family history and medical records, ordering genetic tests, evaluating the results of this investigation, and helping parents understand and reach decisions about what to do next.

—Kids Health

#3: It (cancer genetic counseling) has been described as a communication process, which deals with human problems associated with the occurrence, or the risk of occurrence of a genetically inherited cancer in the family.

—Agashe and Shrikhande (2001)

#4: Genetic counselors work as members of a healthcare team, providing information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions. They identify families at risk, investigate the problem present in the family, interpret information about the disorder, analyze inheritance patterns and risks of recurrence, and review available options with the family.

—Human Genome Project Information

#5: An informative and supportive dialog regarding a known, potential or unsuspected genetic condition:

• Understand the concerns and questions raised by the family and/or referring physician.

• Acquire information: pedigree, medical history, experiential background (the personal burden), obtain relevant medical records.

• Work as part of a multidisciplinary team to clarify the accuracy of the diagnosis (physical exam, relevant tests and evaluations).

• If the diagnosis is known, facilitate the family's understanding and adjustment, emotionally and practically. Information is provided to help families make informed decisions and to access appropriate issues and decision-making in light of a degree of uncertainty.

• If the diagnosis remains uncertain, facilitate understanding of what is known and what has been ruled out—facilitate management issues and decision-making in light of a known degree of uncertainty.

  —Access Excellence

#6: A kind of genetic social work.

—Reed (1947)

#7: Genetic counseling is about helping people try to understand and cope with the effects of genetic disease on their lives and the lives of their families.

—Resta (2000)

#8: Genetic counseling is a communication process which deals with the human problems associated with the occurrence or risk of occurrence of a genetic disorder in a family. This process usually involves an attempt by one or more appropriately trained persons to help the individual or family to:

• comprehend the medical facts including the diagnosis, probable course of the disorder, and the available management

• 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 recurrence

• choose a course of action which seems to them appropriate in view of their risk, their family goals, and their ethical and religious standards and act in accordance with that decision, and to

• make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder.

—American Society of Human Genetics (1975)

#9: Genetic counseling is the process of providing information about the risk of occurrence and recurrence of genetic disease and, when appropriate, of taking steps to modify these risks.

—Epstein (1973)

#10: Genetic counseling is the process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder, the probability of developing or transmitting it and of the ways in which this may be prevented, avoided or ameliorated.

—Harper (1998)

#11: An educational process that seeks to assist affected and/or at risk individuals to understand the nature of the genetic disorder, its transmission and the options open to them in management and family planning.

—Kelly (1986)

#12: Genetic counseling is a dynamic psycho- educational process centered on genetic information. Within a therapeutic relationship established between providers and clients, clients are helped to personalize technical and probabilistic genetic information and to enhance their ability to adapt over time. The goal is to facilitate clients’ ability to use genetic information in a personally meaningful way that minimizes psychological distress and increases personal control.

—Biesecker and Peters (2001)

#13: Genetic counseling I take to include the following kinds of activity:

• advising adults, preconception, of the probability of their conceiving a child suffering from a genetic disorder

• advising adults, post-conception, and as a result of some method of fetal screening, as to whether or not a fetus is suffering from a genetic disorder

• alerting them to the options open to them.

—Chadwick (1993)

#14: Genetic counseling can entail any of the following activities:

• The achievement of an early, precise diagnosis of the condition causing concern, where possible, and hence an increase in knowledge and understanding. Even if unsuccessful, the attempt to achieve a precise diagnosis of the cause of a child's handicap can itself be therapeutic for the family.

• The screening for complications of genetic disease, thereby assisting in the management of affected individuals.

• The provision of social and practical support for those individuals and families with genetic disease: the affected, those who might develop the disorder in the future, and those whose children have been, already are or might in the future be, affected.

• The development and application of specific therapies for genetic disorders.

• The reduction of “handicap,” itself a social construct, by working to minimize the stigma associated with disability and handicap, hoping to develop the self-esteem of affected individuals.

• The provision of information about future reproductive risks and options in particular family situations.

  —Clarke (1993)

#15: A communication process which involves diagnosis, explanations and options (as in all medical consultation). In genetic counseling there is a stronger need for detail, especially in the explanations and options, for which empathetic and emotional support are an essential part. Counsellors are involved in the ethics of the “people's right to know.”

—United States definition, cited in Inter- national Bioethics Committee of UNESCO (1995)

#16: Counselling entails precision of diagnosis, the estimation of risks, and a supportive role to ensure that those who are given information are enabled to benefit from it and from the interventions that are available.

—United Kingdom definiton, cited in International Bioethics Committee of UNESCO (1995)

#17: The objective, methods and indications of genetic consultation are:

Objective:

• to provide information to patients (and/or blood relations of a patient) at risk of contracting a disease that may be hereditary on:

• consequences of pathology in question

• probability of contacting and transmitting it

• possibility of keeping it in check and treating it

Methods:

• construction and analysis of a pedigree

• calculation of the risk of recurrence

• estimation of the consanguinity coefficient

• more specific analaysis

When is counseling indicated:

• known or presumed illness in the patient or family

• congenital malformation

• mental retardation

• consanguinity

• recurrent miscarriage, infertility

—Italian definition, cited in International Bioethics Committee of UNESCO (1995)

#18: A medical process of communication between a physician and a consultand (counselee) where scientific knowledge, data and facts are exchanged in order to provide a framework to understand the genetic problem of the patient and the family.

—Chilean definition, cited in International Bioethics Committee of UNESCO (1995)

#19: Better called “genetic advising”—a useful tool in preventive medicine.

—Argentine definition, cited in International Bioethics Committee of UNESCO (1995)

#20: Information on eventual pathology, not therapeutic but predictive.

—Zaire definition, cited in International Bioethics Committee of UNESCO (1995)