Uncertainty in the information provided during genetic counseling

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Abstract

Clients seek genetic counseling in order to become informed, to make better decisions, and, if possible, to be reassured. Genetic knowledge, however, is fragmentary and incomplete and therefore it may involve more uncertainty than is desirable. In a cohort of 30 counseling sessions we studied the genetic information that was actually conveyed in terms of its predictability, controllability and novelty. With regard to predictability it emerged to be rather the rule than the exception that clients of genetic counseling were confronted with (1) an inconclusive diagnosis, (2) the chance or an estimate of the chance of the occurrence or recurrence of a genetic disorder, and (3) ambiguity about the severity of the disease. In case of bad news, possibilities for control (therapeutic or preventive measures) were minimal. In a few cases, clients were confronted with completely unexpected findings, i.e., information of high novelty. It is concluded that the high degree of uncertainty in the information provided during genetic counseling – reflecting the true state of the art – is in direct contrast to the needs of clients.

Introduction

Genetic counseling is the medical setting par excellence in which the provision of information is the center of medical concern and not, as is usually the case, a form of treatment. Earlier studies on genetic counseling focus on the recall of the information provided and its effects on reproductive decisions 1, 2. Also, studies concerning clients' reactions to presymptomatic testing (conclusive DNA-test results) have been performed 3, 4. Up till now, however, no attention has been paid to how the information provided in daily practice of genetic counseling is experienced in a psychological way [5].

Most clients who seek genetic counseling are referred by their general practitioner or by a medical specialist. Others come on their own initiative, worried because of news in the media or symptoms in their next of kin or in themselves. They may feel uncertain and worried, they may be hopeful, they may feel responsible for making a balanced decision. What they tacitly hope for is a fully reassuring answer so that they can stop worrying [6], but most of them are realistic enough to understand that they should be prepared also for a bad outcome.

If clients cannot be reassured, the least they probably expect when consulting an expert is decisive information, consisting either of good news or of bad news. Such an expectation is in line with the official goals of genetic counseling, one of which is to provide the client with information so that he or she can make informed decisions 7, 8. At present, however, genetic knowledge is fragmentary and incomplete. Definitive answers can seldom be given. Most hereditary information to be conveyed is essentiality uncertain because it concerns probabilities. Only in the case of a conclusive nonheritable disorder, the risk of this disorder in one's offspring is no more than in the rest of the population (which is still not equal to zero!).

Therefore, it may be stated beforehand that instead of offering the certainty longed for, the information provided during genetic counseling will often be full of uncertainties [9]. Moreover, preventive or therapeutic options are usually limited or absent. When one takes this into account, it is no wonder that several studies show that part of the individuals who have undergone genetic counseling experience difficulties in coping afterwards 2, 10, 11. Generally speaking, it seems only realistic to consider genetic information as potentially threatening rather than capitalizing on its reassuring or decisive aspects 12, 13.

The point of view outlined above implies that the information provided during genetic counseling may be considered as a potential stressor and that it is important to conceptualize its threatening aspects in a psychologically relevant way. Experimental research in psychology has specified parameters of a stressor that contribute to its negative impact. The most obvious aspect is the severity of the stressor (here: the severity of the genetic disorder at stake) in terms of its degree of interference with an individual's present life and goals for the future. Apart from severity, the following aspects have been shown to have an important negative impact as well: unpredictability, uncontrollability, novelty, imminence and duration/volatility 14, 15, 16, 17.

The present study will focus only on the first three aspects as parameters of potentially stressful information: unpredictability, uncontrollability and novelty. The other two aspects, although relevant to the situation of heredity at large, are not informational parameters per se. Imminence or nearness in time is rather a client characteristic: some clients seek genetic counseling early in their decisional process, others late, e.g. when the wife is already pregnant or, in the case of adult-onset inherited disorders, when they reach the age of average disease onset in the family. Duration/ volatility is not a sensible informational parameter either, because genetic disorders are not of a temporary nature. After onset, they are permanent conditions and may become progressively worse over time. We will now turn to the three parameters that will be studied.

Unpredictability may concern kind of event (and may be referred to as ambiguity as well), but pertains also to probability of occurrence, and time factors [15]. Generally speaking, unpredictability adds to the stress experienced. Probability of occurrence poses an extra problem here, because, theoretically, 50% chance involves maximal unpredictability and therefore should have the highest negative impact. But also, with very severe stressors, lower percentages have been reported to be experienced as maximally unpredictable, e.g. 25% or 10%. This phenomenon has been called `chance inflation' [15]. Furthermore, it is important to note that essentially the same probability statement can be framed in different ways: positive or negative; as a percentage or as a proportion; quantitative or qualitative; sequential upon other probabilities or isolated [18]. Social psychological studies on risk perception have shown that the same risk framed in a positive way (e.g. 95% chance of a `healthy' child) is experienced as less threatening and leads to different decisions than when it is framed in the complementary, negative way (e.g. 5% chance of an `unhealthy' child) 19, 20, 21, 22, 23. The same applies to proportions as compared to percentages [24], although individual style – personal thinking versus numerical thinking – plays a role too [25].

The second aspect, controllability, is related to predictability, but it is not synonymous to it. Low predictability hampers controllability, whereas for stressors with high predictability, controllability may or may not be possible. In the context of genetic counseling, uncontrollability may take the form of the relative absence of treatment possibilities or preventive measures. Novelty of information, i.e., information beyond the scope of one's expectations, may be an interesting aspect to study too given that the genetic counselor may impart completely unexpected findings to the client. Also clients' initial risk perception is of relevance here.

In the following, the key concepts just outlined will be illustrated by excerpts from the information provided in a cohort of 30 counseling sessions held at a clinical genetics center of a teaching hospital in the Netherlands [26]. Moreover, their further implications will be discussed.

Of the 30 counseling sessions attended, 16 were intake sessions, 9 were final sessions and 5 were single session counseling procedures. Although during intake sessions usually only preliminary information is provided, we considered it legitimate to study this information too, because already herein possible outcomes are anticipated upon, outcomes the client has to live with for several months, sometimes for one or two years. It should be noted that the desire to obtain genetic information was not the first objective for all clients: one came for school advice for an already afflicted child, two couples came more for reasons of mourning about their lost child than for obtaining new information, and two others presented themselves to be studied for the sake of scientific progress. Nevertheless, some genetic information was provided during their sessions.

Six different counselors were involved: one male physician and five female physicians, with varying degrees of experience. Clients' ages ranged from 19–65 years, with a median of around thirty years. Most clients brought a spouse to the session (n=18). Verbal and nonverbal exchanges of information between counselor and client(s) were written down during the session by the third author. After some initial training, this proved to be a workable task, especially because client's expatiations about symptom development and detailed circumstances could be summarized right away. Directly after the session these notes were transcribed and typed. These verbal transcripts were read and re-read by the authors. All the information relevant to the key concepts – unpredictability, uncontrollability and novelty – was systematically extracted from the text by the first author, and checked independently by the other two authors. In this way, a complete list of relevant fragments was compiled for each key concept. Concurrence among the three authors proved to be almost perfect.

In the following, the key concepts will be illustrated by material from the sessions described above, sometimes in the form of literal quotations. These quotations have been translated from the Dutch spoken text into English in such a way that they are at least understandable, whereas at the same time the insufficiences of the original spoken text are retained. In order to give an impression of degree of occurrence some quantitative data will be provided too. However, no claims are made with respect to their generalizability.

Section snippets

Predictability

In the context of genetic counseling, predictability may concern (a) the reliability of the diagnosis itself, (b) the related chance of having a genetic disorder or the chances for one's offspring and other relatives to have a genetic disorder, and (c) the variability of the disease in severity, in onset age and in development (natural history).

Controllability

In fact, explicit references to uncontrollability of a genetic disease and its outcome (absence of options for prevention or therapy) were seldom made by the counselors. Here is one of the few examples of how uncontrollability is experienced (the wife of this couple mentioned her `fifty fifty' problem already earlier in the conversation):

Man (16, with regard to hereditary mental retardation): `Is it possible to have an influence on it, e.g. by altering chromosomes by way of a laser technique?'

Novelty

It happened twice that during the counseling completely unexpected findings emerged (a genetic disease within the family of the nonsuspect parent). In one case, the wife presents with a heart malfunction and the couple wants to know whether it is inheritable or not. Co states that he `does not want to be caught by surprise', and after further investigation he finds a more threatening genetic disorder, this time within the family of the husband: mortification of the cerebellum. The couple does

Reflection on the results

The results of the present study show that the information provided in daily practice of genetic counseling is imbued with different forms of unpredictability, whereas possibilities for control of the malfunctions concerned are minimal. This implies that, after genetic counseling, many clients will experience their situation as highly uncertain. This is all the more distressing because what clients want most, apart from good news, and the reason they consult an expert for in the first place is:

Acknowledgements

We thank the clients and counselors involved for their cooperation and an anonymous reviewer for improving the English.

References (38)

  • IP Levin et al.

    Information framing effects in social and personal decisions

    J Exp Soc Psychol

    (1988)
  • ECM van Schie et al.

    Influencing risk preference in decision making: The effects of framing and salience

    Organiz Behav Hum Dec Processes

    (1995)
  • S Kessler

    Psychological aspects of genetic counseling. VI. A critical review of the literature dealing with education and reproduction

    Am J Med Gen

    (1989)
  • Frets PG. The reproductive decision after genetic counseling. Dissertation, Erasmus University Rotteram,...
  • A Tibben et al.

    On attitudes and appreciation six months after predictive DNA testing for Huntington's disease in the Dutch program

    Am J Med Gen

    (1993)
  • CJM Lips et al.

    De ontdekking van genen verantwoordelijk voor erfelijke tumorsyndromen; klinische en maatschappelijke gevolgen. [The discovery of genes responsible for hereditary tumors]

    Ned Tijdschr Geneeskd

    (1994)
  • A Lippman

    Research studies in applied human genetics: A quantitative analysis and critical review of recent literature

    Am J Med Gen

    (1991)
  • Farrant W. `Who's for amniocentesis?' The politics of prenatal screening. In: Homans H, editor. The sexual politics of...
  • Harper PS. Genetic counselling. An introduction. In: Harper PS, editor. Practical Genetic Counselling. London: Wright,...
  • JM Witmer et al.

    Genetic counseling: ethical and professional role implications

    J Couns Developm

    (1986)
  • A Lippman-Hand et al.

    Genetic counseling: provision and reception of genetic information

    Am J Med Gen

    (1979)
  • Richard R. Follow-up study by telephone, six weeks after the final communication with the clinical geneticist. In:...
  • Spijker HG van. Support in decision making processes in the post-counseling period. In: Evers-Kieboom G, Fryns J-P,...
  • A Lippman-Hand et al.

    Genetic counseling-the postcounseling period: I. Parents' perceptions of uncertainty

    Am J Med Gen

    (1979)
  • Zuuren FJ van. Health care technology: Some of its psychological implications. In: Miedema S, Biesta G, Boog B, Smaling...
  • Miller SM. Predictability and human stress: Towards a clarification of evidence and theory. In: Berkowitz L, editor....
  • JP Paterson et al.

    Clear danger: Situational determinants of the appraisal of threat

    Psychol Bull

    (1987)
  • Steptoe A. Psychobiological stress responses. In: Johnston M, Wallace L, editors. Stress and medical procedures. New...
  • Perrez M, Reicherts M. Stress: Stress, coping and health, a situation-behavior approach; Theory, methods, applications....
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