Genetic counseling gone awry: miscommunication between prenatal genetic service providers and Mexican-origin clients

Abstract

Amniocentesis, and other prenatal genetic tests, have become a well-established feature of modern prenatal care. But these tests place a considerable decision-making burden on the expectant mothers to whom they are offered: the genetic issues involved are complex and the appropriate course of action sometimes ambiguous. Genetic counseling aims to help pregnant clients make an informed decision about prenatal genetic tests. But the clientele of prenatal genetic counseling has changed significantly in the years since the practice was established. Clients were once a self-selected group of women well-informed about the genetic services being offered. In contrast, clients now include an increasing number of women, particularly ethnic minority women, who had no prior knowledge of genetic testing, but were found to be at risk of birth defects after routine screening. Little is known about how well genetic counseling serves the needs of this new clientele. This paper investigates the possibility that miscommunication between genetic counselors and their Mexican-origin clients contributed to the higher rates of amniocentesis refusal. We interviewed 156 pregnant Mexican-origin women who screened positive on a blood test routinely offered in California to detect birth defects. We also observed the genetics consultations of a sub-sample of the women. We identified five common sources of miscommunication: (1) Medical jargon; (2) The non-directive nature of counseling; (3) The inhibitions of counselors stemming from misplaced cultural sensitivity; (4) Problems of translation; (5) Problems of trust. We found that many Mexican-origin women are skeptical of genetic testing and do not easily surrender their own lay theories about the causes of their condition. In order to dislodge the misunderstandings of their clients, counselors must give clients the opportunity to air their own views, however contrary to those of genetics professionals these may be.

Introduction

Reproductive activities, from conception to childbirth, involve decisions that might have wonderful but also devastating consequences in people's lives. In recent years, the field of reproduction has grown in its potential for benefit and harm. Family planning, prenatal care, patients’ right to chose have become standard concepts in medical settings. But the benefits are not shared equally among different ethnic populations.

We are witnessing an “information explosion” in the field of genetics, an explosion fueled both by new discoveries (such as the mapping of the human genome) and by the wider implementation of older techniques (such as chromosome analysis and DNA testing). But the widespread availability of information does not guarantee its widespread comprehension, and the new genetic information may not be well understood by the people whose lives it most affects. In particular, pregnant women are now offered a range of prenatal genetic tests for the diagnosis of developmental disorders and genetic abnormalities (Blatt, 1988). How well do they digest the complex and often ambiguous genetic data these tests provide?

Hospitals and clinics typically offer genetic counseling as a way to introduce prenatal genetic tests to women and to help them understand the implications of test results. Genetic counseling aims to be informative but “non-directive”, it seeks to help clients reach an “informed” decision, but refrains from steering or directing them. The goal of non-directive counseling fitted well with the expectations and needs of the counselors’ original clients, who were predominantly educated, middle-class women well-informed about obstetrics. Indeed, many of these women had sought out, on their own initiative, the genetic services they were being offered. But the clientele has since changed. Pregnant women are now screened on a routine basis to identify those at heightened risk of fetal abnormalities. This routine screening has widened the circle of women now offered genetic counseling. In particular, ethnic minority women today account for a significant proportion of the clientele of genetic counselors (Marfatia, Punales-Morejon, & Rapp, 1990). Many of these women have limited formal education and no prior knowledge of prenatal genetic testing. It is not yet clear how well genetic counseling meets their very different needs (Marion et al., 1980; Marriott, Pelz, & Kunze, 1990).

How do ethnic minority women make decisions about fetal diagnosis, and why do refusal rates tend to be higher among African Americans, Latinos, and some Asian groups (Kuppermann, Gates, & Washington, 1996; Rapp, 1999)? A growing literature draws attention to some of the special issues raised by multicultural genetic counseling (Wang, 1998; Weil & Mittman, 1993; Myers, Echemendia, & Trimble, 1991; Casas, Ponterotto, & Gutierrez (1998), Rapp (1999); Casas, Ponterotto, & Gutierrez, 1986; Carney & Kahn, 1984; Sue et al., 1982), but there has been limited observation-based research on the subject. The extent to which amniocentesis acceptance and refusal among women of ethnic minority backgrounds may be influenced by miscommunication between genetic services providers and their clients has not been well explored (Resta, 1999). In this study we focus specifically on the meaning of amniocentesis refusal among ethnic-minority women. By doing so, we do not mean to imply that there is anything problematic in refusing per se, but we thought it worthwhile to examine the relationship between miscommunication between genetic service providers and their ethnic-minority clients. Neither do we wish to argue that miscommunication is the primary reason why those who did so ended up turning down the test. As we have discussed elsewhere (Browner & Preloran, 1999; Markens, Browner, & Press, 1999), there are other factors, such as the absence of male partners during counseling or patients’ assessments of risk, that were also strong predictors of test refusal. Below we will also consider instances of miscommunication where women agreed to amniocentesis. We argue that while miscommunication was not necessarily less common for the latter, the misinformation they took in appears not to have been sufficiently powerful to affect their decision to agree to be tested.

We focused on Latinos, because they represent a large and rapidly growing population in the United States, and they face a higher risk of neural tube defects (NTDs) than most other groups in this country (Stierman, 1995). NTDs result from failure of the embryonic neural tube to properly close at around 28 days after conception. The majority of NTDs affect the lower spine, in which case they are known as spina bifida or meningomyelocele. NTDs of the skull, depending on their severity, result in either anencephaly or encephalocele. It is not understood why, but the California Genetic Disease Branch has reported that rate of NTDs among women living in Mexico is 5 per 1000, whereas the rates among first- and second-generation women of Mexican origin living in the United States drop to 2.5 per 1000 and 1 per 1000, respectively (G. Cunningham & S. Goldman, pers. comm., 2000). At the same time, Latinos use health services in general (Hunt, Valenzuela, & Pugh, 1998; Chavez, Hubbell, McMullin, Martinez, & Mishra, 1995), and amniocentesis in particular (Cunningham, 1998; Press & Browner, 1998), at a lower rate. There have been few studies of why Latinos are more likely to decline prenatal testing (Browner, Preloran, & Cox, 1999). This paper is intended to build on our understanding of why genetic counseling may go awry (Browner & Preloran, 2000) and to offer examples in which refusal may stem in part from miscommunication.