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The Practice and Profession of Genetic Counseling

Robert G. Resta1

GENETIC COUNSELING—A CLINICAL ACTIVITY AND A PROFESSION

Change, if you will, is in the DNA of genetic counseling. The clinical activity of genetic counseling began in the early decades of the twentieth century. It then continued to evolve in response to advances in the understanding of the principles of genetics and the expansion of biomedical technology and bioinformatics. This in turn led to a greater understanding of genetic disease etiology, manifestations, variability, and treatment, along with new genetic testing capabilities such as genomic analysis, prenatal testing, and pre‐implantation genetic diagnosis. Equally important advances occurred in the study of human behavior and psychology, public health policy, ethical analysis, and counseling theory. These have occurred in the context of shifting social and ethical norms, reproductive patterns like the decades long unwavering trend in delayed child‐bearing in many Westernized countries, and new philosophies of medical care such as patients assuming greater responsibility for their health care management and owning their medical records.

It is only since the 1970s, however, that the profession of genetic counseling has arisen. The education and practice of genetic counseling professionals involves expertise in all the above elements, enabling them to function as members of genetics health care teams and working with diverse specialists. Beyond medical clinics, genetic counselors work in genetic testing laboratories, educational institutions, research, private practice groups, and health insurance companies, to name a few. Today’s genetic counselor provides a unique service, distinct from the contributions of other specialists, for patients and families who seek to understand, adapt to, and cope with the genetic, medical, and—most critically—psychological aspects of conditions they confront.

Fifty years after the first master’s degrees were awarded in genetic counseling, genetic counselors have achieved a prominent place in genetic health care delivery, education, laboratory services, and public policy development. Around the globe they have formed professional organizations and developed mechanisms for accrediting genetic counselors and creating training programs.

The definition, goals, and scope of genetic counseling are tied to time and place. What constituted genetic counseling a century ago appears quite different than it does in 2023, and contemporary genetic counseling can look and sound different across the globe. There is no one “right way” to practice genetic counseling, some Platonic ideal against which all comers are to be measured. Instead, the practice of genetic counseling is continually shaped and reshaped by its regional, social, economic, scientific, medical, historical, and ethical context. Today’s “best practices” and professional codes of ethics are tomorrow’s discarded approaches and ethical shortcomings. The measures of success in genetic counseling in the UK or US might be different than the measures in Saudi Arabia or China or India.

In order to understand how genetic counseling arrived where it is we must understand what it is and where it has come from. This chapter provides an overview of defining genetic counseling, the history of genetic counseling as a practice and as a profession, its ethos and philosophy, and the current practice of genetic counseling. Because of the historical focus of this chapter, some terms are used that were common or considered appropriate at the time that they were written but are now considered offensive. I have set these terms in quotation marks to alert the reader that they are being used strictly for historical context.

DEFINING GENETIC COUNSELING

The term “genetic counseling” was coined in 1947 by Sheldon Reed, a PhD geneticist at the Dight Institute for Human Genetics at the University of Minnesota and one of the first clinical geneticists. He defined it quite tersely as “a kind of genetic social work without eugenic connotations.” (Resta, 1997b). While this definition is lacking in specifics, it does capture the general essence of the idealized concept of genetic counseling.

The American Society of Human Genetics 1975 Definition

Various authors proposed their own brief definitions of genetic counseling in the 1950s and 1960s, but it was not until the early 1970s that a more formal definition was proposed by a committee of the American Society of Human Genetics (ASHG), and was subsequently adopted by ASHG in 1975:

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 involves an attempt by one or more appropriately trained persons to help the individual or family to: (1) comprehend the medical facts including the diagnosis, probable course of the disorder, and the available management, (2) appreciate the way heredity contributes to the disorder and the risk of recurrence in specified relatives, (3) understand the alternatives for dealing with the risk of recurrence, (4) choose a course of action which seems to them appropriate in their view of their risk, their family goals, and their ethical and religious standards and act in accordance with that decision, and (5) to make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder. (ASHG, 1975)

This definition held up quite well for several decades, articulating as it does several central features of genetic counseling. The first is the two‐way nature of the interaction—quite different from the “advice‐giving” of the eugenic period or the supposedly neutral and objective information‐based counseling characteristic of the mid‐twentieth century. The second is that genetic counseling is a process, ideally taking place over a period of time and across the lifespan so the client can gradually adapt to and assimilate complex or distressing information regarding diagnosis, prognosis, and risk and formulate age‐appropriate decisions or clinical and social strategies. The third is the emphasis on the client’s autonomy in decision‐making related to reproduction, testing, or treatment, and the recognition that such decisions will appropriately be different depending on the personal, family, and cultural contexts in which they are made. The fourth acknowledges that the occurrence or risk for a genetic disorder can have a family‐wide impact different from that of other kinds of diseases and indicates that there should be a psychotherapeutic component of genetic counseling to help people explore and manage the implications of often rare disorders. Implicit in the words “appropriately trained persons” is the admonition that genetic counseling requires special knowledge and skills distinct from those needed in other medical and counseling interactions.

No master’s level genetic counselors were on the committee that crafted this definition. This was primarily the result of the profession being so new; the first class of genetic counselors graduated in 1972, just as the ASHG committee was first convening. But the lack of genetic counselor input may also have been partially due to the fact that genetic counselors, who were often called genetic associates in the 1970s, were initially regarded as having an ancillary role in the genetics clinic (Heimler, 1997).

2006 NSGC Definition of Genetic Counseling

Because genetic counseling has continued to evolve, in 2003 the National Society of Genetic Counselors (NSGC) appointed a task force to re‐visit the definition of genetic counseling. Recognizing that many types of professionals provide genetic counseling, the group’s charge was to define genetic counseling, rather than to describe various professional roles of genetic counselors (Resta et al., 2006). In reviewing the literature, the task force found 20 previous definitions of genetic counseling. They also considered the purposes for which a genetic counseling definition might be used. Among these are marketing the profession, not only to potential clients but also to insurance companies, hospital administrators, and health maintenance organizations; increasing public, professional and media awareness of genetic counseling; developing practice guidelines and legislation for licensure; and providing a basis for research in genetic counseling. They settled on a succinct definition that would be readily understandable, broad enough to apply to the variety of settings in which genetic counseling may be practiced, and that acknowledges the increasing importance of genetic counseling for common and complex diseases. As approved by the NSGC Board of Directors, the definition reads:

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...