The routine and the traumatic in prenatal genetic diagnosis: does clinical information inform patient decision-making?

https://doi.org/10.1016/j.pec.2004.03.004Get rights and content

Abstract

With the increasing technical sophistication of medicine, clinicians’ task of assuring patient informed consent is increasingly elusive. Taking the example of prenatal genetic testing, we examine efforts to communicate the complexities of genetic knowledge and risk calculation to patients. In this qualitative, descriptive study, we interviewed 50 clinicians and 40 patients, and observed 101 genetic counseling sessions. We found the clinicians and patients have different goals, purposes, and values regarding testing, which affect their clinical interactions. The information the clinicians provide patients reflects their clinical interest in identifying and controlling pathophysiology, while patients, in contrast, are most concerned with protecting and nurturing their pregnancy. We argue informed patient decision-making about prenatal testing options requires information that is responsive to patient interests. We recommend developing a shared decision-making approach, to facilitate the full participation of both clinicians and patients in the decision-making process.

Introduction

Medicine is becoming increasingly technologically sophisticated, while at the same time less and less paternalistic [1]. Current practice for a wide array of conditions and services, such as cancer management and hormone replacement therapy, requires that patients understand and process complex sets of facts and figures in order to make informed health care choices. These issues are particularly noteworthy in the nascent field of prenatal genetic screening and diagnosis, where clinicians routinely must communicate the complexities of genetic knowledge and risk calculation to patients, in order to facilitate their decision-making.

Prenatal genetic screening has become a routine part of obstetrical practice in the United States. It is currently recommended that all pregnant women under 35 have a “Triple Screen” or “AFP” blood test, to screen for Down Syndrome, neural tube defects (NTDs), and Trisomy 18 [2], [3]. However, these are only screening tests, and a definitive diagnosis requires additional testing, usually an amniocentesis.

When a screening test is abnormal, a clinician will discuss the finding with the patient in a genetic counseling session, explaining such things as the nature of the anomaly, the influence of heredity, and further testing options. These sessions are intended to give patients technical information, emotional support and assistance in making decisions about how they wish to proceed [4], [5]. Although several states require prenatal genetic testing options be presented to patients by certified genetic counseling specialists, in most states there is no such requirement, and other health care professionals such as physicians, nurses, and social workers may discuss testing options with patients. The patient is then asked to choose the course of action which seems most appropriate to her [6], [7], [8], [9]. Because amniocentesis carries about a 1 in 200 chance of provoking a miscarriage [10], [11], and there are currently no treatments for the conditions being diagnosed, this is widely recognized as a morally controversial decision, wherein the potential benefits of the knowledge the test can provide must be weighed against considerations such as the acceptability of abortion and attitudes about disability [12], [13], [14].

In order to avoid imposing such moral judgements on patients, the core principles of neutrality and nondirectiveness have emerged as benchmarks in the field of genetic counseling. The ideal is to help patients come to an “autonomous and informed choice” free of the influence of the clinician’s value system [15], [16], [17], [18], [19]. It should be noted that there is much debate in genetic counseling circles about whether nondirectiveness is in fact possible or even desirable [4], [15], [20], [21]. Nonetheless, the principle of nondirectiveness remains central to current standards for genetic counseling practice.

But can facilitating value-neutral information transfer assure patients are making informed decisions about genetic testing? Or might the goals, purposes, and values of clinicians and patients be so different that they are essentially speaking different languages in the exchange? In a seminal article in 1984, Mishler [22] has argued that at its root, doctor–patient communication amounts to a transaction between two distinct worlds: the biomedical world of physicians and the life-world of patients. Patients’ primary orientation is in the social domain where the meanings of health and illness are highly context-specific, firmly situated within their particular life histories, social and environmental situations [23]. In contrast, clinicians are primarily concerned with the pathophysiological aspects of illness, and are oriented toward technical aspects of predicting and controlling health conditions (see also [24], [25]).

Studies of clinician–patient communication in prenatal genetic decision-making commonly emphasize the biomedical perspective, examining the content and completeness of information provided to patients [26], [27], [28], [29], and describing various strategies clinicians use to impart that information (see for example [20], [30], [31], [32], [33], [34]). Those who concentrate more explicitly on the patients’ perspective, have found that patients do not base their decision-making so much on the information provided by clinicians, as on other considerations such as the meaning of the pregnancy for them, their personal attitudes about abortion and disability, and their spiritual beliefs [16], [34], [35], [36], [37], [38]. In this paper we will explore the interaction between these contrasting perspectives, and consider how differences in the primary orientations of clinicians and patients might affect efforts to assure patients are making informed decisions about prenatal genetic testing. By contrasting clinician and patient points of view, we will show that clinicians and patients have very different goals, purposes, and values regarding prenatal genetic testing, which can importantly affect their communication in genetic consultations.

Section snippets

Methods

In this analysis we combine data from a series of related studies we have been conducting in prenatal genetic clinics in South Texas. These studies were designed to explore factors that may affect the use of prenatal genetics services by Latina patients (cf. [36], [39]). We were especially interested in contrasting the experiences and perspectives of clinicians and patients in the context of decision-making about amniocentesis, with each subsequent study adding subjects and locations.

Findings

Some demographic characteristics of the clinician sample, patient sample and clinical observations are summarized in Table 1, Table 2, Table 3, respectively. Table 4 includes some characteristics of the participants included in the three-dimensional data set. It should be noted that we present this data merely as descriptors of the participants, and do not mean to imply any causal influences of any of the features listed.

The overall purpose of prenatal care is, obviously, to ensure a healthy

Discussion

Pregnancy, for an expectant mother, is quite often a life-transforming event, full of hopeful anticipation. The news that a test result indicates a possible problem with the fetus can be devastating. In contrast, prenatal clinicians routinely see abnormal screening results, and have routine protocols for responding to them. Due to these vastly different starting points, they have very different things at stake when considering what to do next.

In the clinician’s view, an abnormal screening test

Acknowledgements

The clinician interviews reported here were part of a larger study conducted in collaboration with Carole Browner, of UCLA, which will compare prenatal genetic diagnosis in Texas and California. This research was supported by the National Center for Human Genome Research (1RO1 HG001384-01, Carole H. Browner and Linda M. Hunt as co-PIs). The research was also supported by a grant from the San Antonio Area Foundation. We wish to thank the staff and patients whose kind cooperation made this

References (58)

  • R. Kenen et al.

    To use or not to use: the prenatal genetic technology/worry conundrum

    J. Genet. Couns.

    (2000)
  • J. Weil

    Psychosocial genetic counseling in the post-nondirective era: a point of view

    J Genet Couns

    (2003)
  • National Society for Genetic Counselors. Genetic Counseling as a Profession. National Society for Genetic Counselors...
  • G. Elwyn et al.

    Shared decision-making and non-directiveness in genetic counselling

    J Med Genet

    (2000)
  • F.C. Fraser

    Genetic counseling

    Am J Hum Genet

    (1974)
  • S. Michie et al.

    Nondirectiveness in genetic counseling: an empirical study

    Am J Hum Genet

    (1997)
  • S. Michie et al.

    Genetic counselling: the psychological impact of meeting patients’ expectations

    J Med Genet

    (1997)
  • J.A. Kuller et al.

    Contemporary approaches to prenatal diagnosis

    Am Fam Physician

    (1995)
  • Press N, Browner CH, Tran D, Morton C, Le Master B. Provisional Normalcy and “Perfect Babies”: pregnant women’s...
  • E. Parens et al.

    The disability rights critique of prenatal genetics testing

    Hastings Center Rep.

    (1999)
  • A. Asch

    Prenatal diagnosis and selective abortion: a challenge to practice and policy

    Am J Public Health

    (1999)
  • F. Brunger et al.

    Resistance and adherence to the norms of genetic counseling

    J Genet Couns

    (1995)
  • D.S. Newberger

    Down Syndrome: prenatal risk assessment and diagnosis

    Am Fam Physician

    (2000)
  • Petersen A. Facilitating autonomy: the discourse of genetic counselling. In: Petersen A, Bunton R, editors. The new...
  • Clarke A. The process of genetic counseling. In: Harper P, Clarke A, editors. Genetics, society and clinical practice....
  • S. Kessler

    Psychological aspects of genetic counseling: nondirectiveness revisited

    Am J Med Genet

    (1997)
  • G. Anderson

    Nondirectiveness in prenatal genetics: patients read between the lines

    Nursing Ethics

    (1999)
  • Mishler E. The discourse of medicine: dialectics of medical interviews. Norwood, NJ: Ablex Publishing Corporation;...
  • L.M. Hunt et al.

    An analytical framework for contrasting patient and provider views of the process of chronic disease management

    Med Anthropol Q

    (2001)
  • Cited by (0)

    View full text