Genetic Counseling

Ethical Challenges and Consequences

Dianne M. Bartels, Bonnie S. LeRoy, Arthur L. Caplan, Arthur L. Caplan

• Publisher: Routledge
• Year: 2017
• ISBN:
  9781351517959
• Edition: 1
• Topic: Medicine
• Subtopic: Medical Theory, Practice & Reference

Genetic counseling is fairly new. The fact that the field is an accepted professional enterprise in universities, clinics, and hospitals throughout the United States is remarkable. The contributors argue that genetics and medicine rest on beliefs widely held in American society. Scientific progress is good, and highly sophisticated technologies are appropriate means to solving medical problems. The better understanding they gain about the nature and evolution of disease, the more prepared clinicians will be to treat and prevent future occurrence of disease. A belief that medicine, including genetic medicine, is clear, factually based, and objective undergirds the strategies and norms of genetic counseling. This collection of original papers explores the history, values, and norms of that process, with focus on the value of non-directiveness in counseling practice. The contributors' examination of genetic counseling issues serves as a foundation from which to address the ethical, legal, and policy considerations of clinical genetics.

Part I Evolution of Genetic Counseling

Chapter 1 Genetic Counseling: Values That Have Mattered

James R. Sorenson

Introduction

The title of this chapter is “Genetic Counseling: Values That Have Mattered.” Itwill address three issues:

1. The transition of genetic counseling from eugenics to medical genetics;
2. The origins and applications of ‘value neutrality’ in genetic counseling; and,
3. The range of values that have guided genetic counseling in the United States.

Before addressing these issues, however, I would like to put my comments in perspective. First, concerning the concept of ‘value neutrality,’ my bias is that genetic counseling as an applied activity can not be value neutral. To apply knowledge requires making decisions about what to inform people, when to inform them, and how to inform them. T-hese decisions are influenced by values, and in this respect, genetic counseling probably has never been nor ever will be value neutral. I think the issue that is of more interest for genetic counseling is the value of “nondirectiveness.”

Second, I will attempt to identify some of the major values, in addition to “nondirectiveness/’ that have guided genetic counseling over its more recent history. In this analysis it is important to recognize that genetic counseling in this country is not a distinct full-fledged profession in a sociological sense. Hence, it is difficult to speak of genetic counseling as a unified enterprise. More accurately, genetic counseling has been and is a consulting activity that has been and continues to be practiced by a variety of professionals. Understanding the various professional groups and their organizational and institutional settings is useful in appreciating the evolution and the particular value profile of genetic counseling in the United States.

Finally, for purposes of gaining insight into genetic counseling as a consulting activity, I would like to suggest that it is useful to identify three phases in its development in this country. These are (1) the period from the late 1800s to the late 1930s, (2) the period from the late 1930s to the late 1960s, and (3) the period from the late 1960s until today. I have identified four topics that allow some comparison of similarities and differences in genetic counseling during these periods. These are (1) the providers/practitioners of genetic counseling, (2) the organizational and institutional settings of counseling, (3) genetic counseling clients, and finally (4) the goals and objectives of counseling. I do not maintain that these are the only phases one could identify, nor the only set of factors on which to compare these or other phases. Rather, I have found them useful in thinking about the evolution of genetic counseling as a type of consulting activity.

Eugenics and Genetic Counseling

The first period from the late 1800s to the late 1930s constitutes the major period of the eugenics era in this country (Ludmerer 1972). In abbreviated form the practitioners of eugenics were largely self proclaimed experts in social reform-including clinical psychologists, staffs of mental institutions, an assortment of academics, primarily biologists and social scientists, but interestingly comparatively few physicians. The organizational setting of applied genetics in this era involved various organizations including the old Eugenics Record Office in Cold Spring Harbor, NY, as well as other private and voluntary organizations. Institutionally, genetics during this period was applied primarily through the state and federal government, with the passage of laws concerning immigration, marriage, procreation, and the institutionalization of people deemed “unfit” to reproduce or be on their own.

Of particular importance in understanding the nature of the eugenics era is the fact that applied human genetics generally, and genetic counseling in particular, was part of a social movement. As such, the eugenics movement provided both a mission and a method for applied genetics. The mission was, as I have commented elsewhere:

both Arcadian as well as Utopian. Itwas Arcadian to the extent that many within the movement looked to the past as an ideal and they were attempting to reconstruct an assumed lost purity of the American race, or to recapture the simplicity of an earlier form of social existence. The movement was also Utopian in that it looked to the future as an opportunity to improve men and society, through selective breeding, immigration, and social planning. In both its Arcadian dreams and Utopian fantasies itlooked to genetics as the method. (Sorenson 1976)

This philosophic dualism is one premise of the application of genetics that has undergone revision and, in fact, has been rejected as applied genetics has evolved during the past 60 years in this country.

The recipients or clients of genetic services during this first era, if such terms are appropriate, were usually not those seeking eugenic measures but rather individuals identified by the state as needing procreative regulation or regulation of citizenship.

Lastly, the goals and objectives of the eugenics era encompassed biological as well as social ends. The biological goals revolved about the preservation and purification of the race or biological stock of the nation. Socially there was the objective of reducing the social and economic burden on society of those deemed biologically and/or socially “unfit.”

The eugenics era witnessed a highly coercive approach to applied human genetics. Genetic counseling was part of this initiative, but probably not a large part. While the evidence is limited, one can surmise that nondirective counseling was not a mainstay of genetic counseling offered during this period. The state, through the passage of laws and immigration policies, among other initiatives, was a major vehicle for enforcement and regulation. What is clear is that the goals and objectives of applied genetics, including genetic counseling, were stated, most often, in terms of population-based social/biological criteria. And although there was no single professional group defining the goals or objectives of genetic counseling, there was considerable social support for such goals and objects fostered by a social movement.

From Eugenics to Clinical Medicine

The next “phase” of genetic counseling covers the period from the late 1930s through the late 1960s. One can ask if there was a link between genetic counseling in the eugenics era and its characteristics in the period from the mid-1930s through the late 1960s. There is some difference of opinion on this. Let me quote two sources. Wertz and Fletcher, in a recent commentary on the history of genetic counseling in the United States, wrote “There was no historical continuity between the eugenics movement. … and the new field of human genetics and genetic counseling that began to develop before and especially after WWI” (Wertz and Fletcher 1989). Citing the writing of Sheldon Reed, they note a significant difference in the place of nondirective counseling in the newer era in contrast to the eugenic era.

A contrary position is adopted by Ludmerer, who, in his history of applied human genetics (written in the early 1970s) in the United States, stated, “Today’ s heredity clinics … descended directly from the early eugenics movement. Eugenic thought, in a precise, unpretentious form, had survived the original movement. Eugenics has divorced itself from Spencerian sociology and entered medicine” (Ludmerer 1972).

During this second phase there were two major developments. First there was the demise of the eugenics movement, well chronicled elsewhere. Second, there was the movement of genetic counseling out of the organizational and institutional context of the eugenics movement into academia, including the academic medical world.

In some respects one could divide this latter period into two subphases. The first focuses on the emergence of genetic counseling largely inthe scholarly academic world, following the demise of the eugenics era. Second, beginning in the mid- to late 1940s, applied human genetics began to make its way into the medical world, through the emergence of departments of medical and clinical genetics in a few and then more medical schools around the country.

If one focuses during this era on the application of genetics in the academic world, especially during the early period, it is possible to develop the impression that there was some linkage between genetic counseling in the eugenics era and this newer period. For example, the writings of some academic geneticists during this period reflect a lingering concern about the population implications of genetic counseling. On the other hand, ifone focuses on genetic counseling during the later part of this period, when it was becoming strongly entrenched inacademic medicine, one would get the impression that genetic counseling bore much less resemblance to its eugenic predecessor, since concern with the population impact of genetic counseling lost virtually all favor among clinically oriented medical geneticists.

In terms of practitioners during this phase, in the early period they tended to be Ph.D. academic-based geneticists, often in biology or zoology departments in universities. Itmay be overdrawing the case somewhat, but this generation of genetic counselors practiced genetic counseling, one might say, almost by accident. What I mean is that they had expertise in genetics, as it was developing then, and when reproductive problems involving suspected genetic factors occurred they were about the only ones available who could provide some information. They did not view genetic counseling as a professional calling.

In the mid to latter part of this phase genetic counseling began a significant movement into the medical world. While trained in medicine, a group of academic physicians, not unlike their counterparts in the more liberal arts academic world (Ph.D.s), practiced genetic counseling “accidentally,” that is, more because they happened to be experts in a developing and esoteric body of knowledge than because of a specific calling or commitment to the practical application of genetic knowledge. As such, both Ph.D.s and early M.D. geneticists were, one might argue, more “scholarly” than “consulting” professionals. Why might this be important?

Eliot Freidson, a medical sociologist, has argued that there are important differences between the orientation of scholars regarding the use and application of their expertise and the orientation of “practitioners” or, as he would label them, consulting professionals (Freidson, 1970). One of the key differences is that the scholarly oriented professionals tend to view their obligation toward the use of their expertise as largely one of presenting the facts and information. The user makes the decision as to what to do with the knowledge. How the information is used is generally viewed as outside the technical and scientific competence of the scholarly professional. As such, Freidson argues that scholars tend to maintain an “ideology of technical neutrality” regarding the use of their expertise.

In contrast, consulting professionals, according to Freidson, tend to view their role in the application of their expertise in a more activist, interventionist position. By the very nature of their training, often with significant clinical experience, consulting professionals become accustomed to, and in fact expect to be participants in decisions about the use of their expertise. They develop what Freidson calls a sense of “functionally diffuse wisdom” in contrast to an ideology of value neutrality. By functionally diffuse wisdom Freidson is not attempting to put down practitioners. Rather the point he is making is that in the process of dealing with recurring human dilemmas and problems practitioners come to believe that they have special insight into human nature. This special insight “equips” practitioners to believe they should advise and intervene in other peoples’ lives. This belief translates into a willingness to offer advice and counsel on practical matters, often matters on which the professional has no special training or technical expertise.

I am suggesting that one of the factors contributing to the origins of a nondirective value in genetic counseling may have developed in part because of the “scholarly” orientation and role definition of the first set of genetic counselors following the eugenics era. Certainly academic Ph.Ds., but also academic physicians in academic medical centers were, by their training and orientation, oriented more to the scholarly development of new knowledge and understanding of the world than to the day-to-day practical application of their expertise and the solution of problems. As such, their professional orientation would make them more likely to exercise “value neutrality” than “functionally diffuse wisdom” in the application of their expertise, to be nondirective in philosophy and practice.

An additional factor in understanding the delivery of genetic counseling in this phase is its organizational and institutional settings. Genetic counseling had left the voluntary organization and social movement context of the eugenics era and entered largely, but not exclusively, academia and medical research organizations. In such settings, in contrast to the eugenics era, there was little by way of institutional support (or or concern with the “eugenic” or social implications of and potential for eugenic measures. Eugenics was being rapidly discredited, as Ludmerer has noted, both in terms of its scientific base and in terms of its political acceptability (Ludmerer 1972). Additionally, with the movement of genetic counseling into the medical arena there was a pronounced diminution of interest in the social implications of the application of such knowledge in contrast to its potential utility in assisting the individual client or patient. In short, with the movement of genetic expertise into institutional medicine there was no longer significant institutional support for considering the social implications of the application of such knowledge. The delivery of genetic counseling by more academic than consulting professionals contributed to an emphasis in genetic counseling on education more than counseling.

The recipients/clients of genetic counseling in this phase, in large part, were individuals who were referred to genetic experts because of previous genetic based or influenced reproductive problems. Whether they acted on the information provided by their “genetic counselors” or other family counselors, the clients in this period were beginning to make decisions regarding whether they wanted to have and use such information. In large part they obtained genetic counseling through care of their affected infant or child in a specialty clinic or because of the family physician’s awareness of the potential utility of seeing someone with more expertise than they in genetics.

To assess the goals and objectives of the practitioners during this phase one has to look at the writings of numerous genetic counselors. Dr. Sheldon Reed clearly advocated a nondirective approach to counseling and by implication suggested that the primary goal of genetic counseling was education. Reed is credited with selecting genetic counseling as the name of this activity (Reed 1955). However, as noted above, if one examines the writings of other experts, such as Herndon, Dice, and Stern, there was an undercurrent of discussion in their writing suggesting that in providing genetic counseling the provider should be aware of the possible negative eugenic, or population implications of counseling (Haller 1963; Ludmerer 1972). Such statements were usually quickly followed by discussion of two sets of considerations. The first was that the decisions about what to do reproductively could not be informed or made by counselors because they did not have the expertise to inform such a decision and second, usually they did not know the patient/client and his/her situation well enough to offer advice. The writings of providers during this era suggested a strong faith in the clients to make a wise choice, or, in the language of today, a more informed reproductive decision. Translated, this meant that knowledge of an elevated risk would lead more often than not to decisions not to have a (another) child, and hence, the negative eugenic implications of genetic counseling would be limited. This faith, or assumption, was perhaps grounded less in concerns about the eugenic impact of genetic counseling than faith in the role of knowledge in human affairs, a not uncommon belief among scholarly optimists as opposed to the sometimes pessimistic views of consulting professionals.

The Professionalization of Genetic Counseling

The next phase, from the late 1960s t...