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Do Notions of Risk Inform PatientChoice? Lessons from a Study ofPrenatal Genetic Counseling

Linda M. Hunt, Heide Casta~nneda, andKatherine B. de Voogd

Risk modeling is an increasingly important part of clinical medicine; however,risk status is a complex notion, understood differently by patients and clin-icians. Patients ability to make informed choices about clinical proceduresoften requires that they interpret risk statistics, which may be difficult tounderstand and apply. In this article, which is based on a study of prenatalcare in South Texas, we consider how notions of risk affect patient decisions

about prenatal genetic testing. The term risk carries multiple meaningsfor clinicians and patients. These meanings may conflate concepts of dangerand probability as well as muddle population risk and individual risk. Wepropose that failure to articulate the varied and contrasting meanings of riskheld by clinicians and patients can undermine clinical communication and,

LINDA M. HUNT is a medical anthropologist and associate professor in the Department ofAnthropology and the Julian Samora Research Institute at Michigan State University. Her

recent research explores health and health care for Latinos and other ethnic minority patientsin the United States. She may be reached at the Department of Anthropology, Michigan StateUniversity, East Lansing, MI 48824. E-mail: [email protected]

HEIDE CASTANEDA is a doctoral candidate in medical anthropology and a researchassociate with the Department of Family and Community Medicine at the University of

Arizona. She is currently writing a dissertation on medical aid for undocumentedmigrants in Berlin, Germany. She may be reached at the Department of Anthropology,University of Arizona, P.O. Box 210030, Tucson, AZ 85721-0030. E-mail: [email protected] B. DE VOOGD is a sociologist whose research interests include cross-culturalcommunication, ethnicity and health, health behaviors, and health decision making. She

currently works as a research consultant, specializing in qualitative research design andevaluation. She may be contacted at the Department of Family and Community Medicine,University of Texas Health Science Center, 7703 Floyd Curl Drive, San Antonio, TX 78229.E-mail: [email protected]

193

Medical Anthropology, 25:193219, 2006

Copyright # Taylor & Francis Group, LLC

ISSN: 0145-9740 print/1545-5882 online

DOI: 10.1080/01459740600829720

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thereby, hamper patients ability to make autonomous, informed choices.Attending to these differences may prove useful in empowering patients tomake truly informed decisions.

Key Words: decision making; doctor patient communication; informed consent; risk

Dr: Your test is showing you have an increased risk of the baby havingDown syndrome. Its one in 163.Now, what does this mean?

Pt: What DOES that mean?

Authority and responsibility for clinical decision making has beengradually shifting in recent years, from clinicians to patients.Achieving truly informed patient consent is the current ideal,which requires patients to deliberate about the expected costs andbenefits of the medical options at hand, weigh them against theirown values and preferences, and come to a decision about thecourse of action they wish to pursue (Jonsen, Siegler, and Winslade

1998; Emanuel and Emanuel 1992; Braddock et al. 1997; Gotler et al.2000). A concurrent trend in clinical medicine is the increasingemphasis placed on risk statistics as a key consideration in decisionmaking for a broad variety of conditions (Skolbekken 1995; Rockhill,Kawachi, and Colditz 2000). As a result, patients are commonlypresented with an array of risk figures as a central element ofthe information they are given when being asked to make decisionsabout various medical procedures and treatments.

In such clinical usages, risk is generally taken to be a straightfor-

ward concept, and discussion of risk statistics with patients isviewed as simply a question of knowledge transfer. However, thenotion of risk is in fact highly complex, fraught with multiple andsometimes contradictory meanings. For example, there are impor-tant, but often neglected, differences between epidemiological,clinical, and lay notions of risk. In epidemiological terms risk refersto statistical associations found within a population; in clinicalterms risk is the probability of the occurrence of a particular diseaseor outcome for an individual; while in lay terms risk may signify

current or future illness (Hunt and de Voogd 2003; Rockhill 2001;Rose 1992; Gifford 1986). Furthermore, the term risk itself isnotably ambiguous. In the clinical context, risk may variously referto a state of danger, a likelihood or probability, taking a chance, or a

194 L. M. Hunt, H. Casta~nneda, and K. B. de Voogd

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numeric statements about risk can be presented so as to indicate

how a reasonable and responsible person should act on theinformation (Lupton 1999; Bosk 1992). It is also argued that risk esti-mates are most likely to be interpreted in the same way by cliniciansand patients when they are presented in objective, quantitativeterms (Benkendorf and Prince 2001; Hallowell et al. 1997).

However, other studies have found that, even when discussionsof risk are kept to strictly quantitative terms, personal and situa-tional factors strongly shape patients perception of risk. Some stu-dies have explored how patients perceive and act upon risk status

information, reporting that understanding of risk varies with bothsocial background and personal experience (Rapp 1998, 1999). Forexample, the severity of an anomaly, its salience to a womanslife, the patients perceived control over the event, and socio-demographic factors such as age, class, educational level, andhealth status have all been found to influence patient perceptionof risk (Edwards and Elwyn 2001; Hallowell et al. 1997; Mazurand Merz 1994). Markens et al. (1999) have noted that, whilewomen who decline genetic testing often appropriate the concept

of risk to explain their decision, the meaning they attach to this con-struct may be quite different from that held by clinicians.As such discussions illustrate, communication about risk status

is thought to be of central importance to patient decision makingabout prenatal testing. But is autonomous and informed patientchoice assured through effective discussion of risk statistics? Ouranalysis, which contrasts the ways clinicians and patients talk aboutrisk, challenges this assumption. In the following sections we con-sider some of the varied meanings of risk used by clinicians and

patients, and we explore how they attempt to navigate betweenthese diverse notions.

THE STUDY

We have been collecting data over the past five years in a series ofrelated studies of prenatal genetic testing. Here we present data fromclinician and patient interviews, and from clinical observations con-

ducted at 21 clinics in South Texas. These data were collected as partof a larger study of prenatal genetic counseling practices in Texas andCalifornia, being conducted collaboratively with Dr. Carole Browner(for details, see Hunt and De Voogd 2003; Browner et al. 2003).

Notions of Risk and Patient Choice 197

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We interviewed a convenience sample of 50 clinicians, including

25 physicians, 20 clinical staff (nurses, social workers, and medicalassistants), and 5 genetic counselors, all of whom have a role inoffering prenatal genetic testing options to patients in the courseof prenatal care. Some demographic characteristics of the cliniciansample are summarized in Table 1. Interviews consisted of open-ended questions about their communication strategies in makingoffers of prenatal diagnostic tests and included a set of questionsspecifically regarding how they attempted to convey the notion ofrisk to their patients.

We also interviewed a convenience sample of 40 patients fromthree of the clinics whose clinicians we had interviewed. About halfwere Mexican-born while half were Mexican Americans born in theUnited States.2 All had been offered amniocentesis following anabnormal blood screening test. We approached patients at the timeof their initial consultation at these clinics and asked whether they

TABLE 1. Selected characteristics of 50 clinicians from 21 clinics in South Texas

Characteristic No. %

SexFemale 31 62Male 19 38

EthnicityNon-Hispanic White 30 60Hispanic 18 36African American 2 4

Age (range: 2462; mean: 41.4)2434 18 36

3544 11 224555 15 30>55 6 12

Level of trainingMD with genetics specialty MFM or Peds 11 22MD: no genetics specialty Ob=Gyn or FP 14 28Genetics counselor MS 5 10Nurse: no genetics specialty LVN, RN, NMW, MSN 11 22Other prof.: no genetics specialty MSW, MA, BA 8 16Non-prof: no genetics specialty no college 1 2

Type of clinic

Public genetics specialty clinics 12 24Private genetics specialty clinics 24 48Public referral clinic Ob=Gyn or FP 7 14Private referral clinic Ob=Gyn or FP 7 14


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would be willing to be interviewed for this study. Most interviews

were conducted in patients homes, usually within two weeks oftheir prenatal genetics consultation. Interviews focused on theirunderstandings of fetal abnormalities and testing procedures, thebasis of their amniocentesis decisions, and general impressionsabout the genetics consultation. Interviews began with the question:Tell me what happened when you were at [name] clinic? Whatdid they tell you? We followed this with a series of focused probesand open-ended questions regarding their views of prenataltesting, their impressions of the genetics consultation, and

their decision-making process. Patients ages ranged from 15 to 41years and about half were married. Most were not formallyemployed, and about half had completed high school or more.(See Table 2).

In the course of recruiting women for interviews, we conductedclinical observations of 101 genetics counseling sessions in whichamniocentesis offers were made. Fieldnotes of the observationswere designed to capture the clinician-patient interaction, and care-ful attention was given to the presentation of technical information.

About 40 percent of these observations were conducted in a publicclinic, while the rest were conducted in three private clinics. Most ofthe patients we observed accepted the amniocentesis, while slightlyless than one-third declined (see Table 3).

All interviews were tape-recorded and transcribed, then sum-marized and coded into matrixes used for content analysis. We alsocoded interviews and observational data into SPSS databases,which included demographic data and open-coded variables ofthe main questions covered in the interviews and observations.

Throughout the project all phases of data processing and analysiswere cross-checked in conference sessions, wherein the researchteam discussed each case, reviewed emerging findings, andreached a consensus about the application of coding categories.We also conducted spot-checks for consistency in coding and classi-fication procedures, and we discussed and resolved any anomaliesor discrepancies in coding.

The Setting

The study included both private and public genetic specialtyclinics. While the public clinics serve primarily indigent and undo-cumented patients, the private clinics serve a cross-section of


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classes, due to the availability of Medicaid compensation for thecare of low-income patients. The atmosphere in these two typesof clinics is notably distinct. The Cypress Clinic3 is typical of theprivate clinics in the study. It is a new clinic in every sense of the

word: all of its furniture is new and it is freshly decorated. The col-ors are warm and cozy, maroons and deep greens, and the waitingroom is designed to be particularly inviting, with rocking chairsand numerous knick-knacks displayed behind glass.

TABLE 2. Selected characteristics of 40 patients from three clinics in South Texas


Place of birthMexico 21 52United States 19 48

Age (range: 1541; mean: 25.92)1518 7 181924 10 252530 14 3531 9 22

Language of interviewSpanish 18 45English 22 55

Education (yrs=formal)111 yrs 19 48High school grad. or more 21 52

Marital statusSingle 15 38Divorced 2 5Married 23 57

Number of children

0 17 4312 18 4534 5 12

Annual household income$20,000 13 32Patient doesnt know 4 10

Clinic typePublic genetics specialty clinic 29 72Private genetics specialty clinic 11 28

Amniocentesis decisionAccepted 30 75Declined 10 25


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This contrasts markedly with the public prenatal geneticsclinics, which are hurried, crowded places, where making patientscomfortable is not a high priority. Many of the patients in ourstudy were receiving care at the weekly prenatal genetics clinicheld in the Ob=Gyn clinic of a large, public teaching hospital. Thisis a busy place, very different from the Cypress Clinic. The wait-ing room is large, seating up to 75 people, and is often packedto standing room only. A television is always on, often tuned to a

talk show or soap opera. Many of the patients come with hus-bands, mothers, friends, or children in tow, which adds to thenoise level (which is already high due to the television and thecontinuous announcements over the public address system). It is

TABLE 3. Selected characteristics of 101 clinical amniocentesis offers in eight geneticspecialty clinics in South Texas


Reason for referralRisk indicated by blood screening test 84 83(Risk for Down Syndrome) (60) (59)(Neural Tube Defects) (13) (13)(Trisomy 18) (11) (11)Advanced maternal age (>35 y o) 11 11Family history of genetic disease 4 4Abnormal ultrasound 2 2

Clinic typePrivate genetics specialty clinic 60 59Public genetics specialty clinic 41 41

Language of consultationEnglish 78 77Spanish 23 23

Amniocentesis accepted=declinedAccepted 44 43Declined 30 30Undecided at time of consult 21 21

Offer withdrawn (wrong dates) 6 6Types of patient dataObservations only 69 68Observations and interviews 32 32

Types of clinicians observed (n 20)MD with genetics specialty (MFM or peds) 3 15MD: no genetics specialty (Ob=Gyn or FP) 11 55Genetics counselor (MS) 2 10Other: no genetics specialty (MS=MA=BA=BSW) 4 20


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not uncommon for patients to wait two to three hours to see a

clinician, followed by additional waits for the various servicesthey will receive that day.

Most insurance plans, including Medicaid, will cover all prenatalgenetics services offered at these clinics: the genetics counseling, theultrasound, and, if warranted, the amniocentesis. If a patient doesnot have insurance, she is considered to be self-pay; her dis-counted cost will often total more than $1,000 in both the publicand private clinics.

Among the cross-section of practitioners we interviewed, only

the genetic counselors have had extensive training in discussingthe concept of risk with patients. The others had developed a var-iety of idiosyncratic tactics through experience and observing otherclinicians. In some of the private clinics the offer of prenatal genetictesting was made by certified genetic counselors, but this was theexception. More often, medical professionals, such as physicians,nurses, and social workers who did not have specialty training ingenetic counseling, were the ones who discussed these testingoptions with patients.4 What usually happens is that women who

are determined to be at risk due to their age, family history, oran abnormal blood screening are referred to these specialty clinicsfrom a variety of public and private prenatal clinics. Many patientsarrive for the consultations with little or no previous knowledge ofthe testing options and their associated risks, so the informationthey are provided during these clinic visits is often their firstexposure to these statistical concepts.

A NEW LIFE AT-RISK

Comparing Clinical Apples and Everyday Oranges

Susan was born in Texas and is 34 years old. She has a mastersdegree and teaches tenth-grade math. Her husband is a policeman,and their combined income is well into the middle-class range. Sheis 16 weeks pregnant with their second child and was referred tothe Cypress Clinic after her blood test indicated an increased risk

for Down syndrome. Here, accompanied by her husband, she isdiscussing her situation with the doctor for the first time. The doc-tor is a seasoned MD specializing in perinatalogy, and is the ownerof the clinic.


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Dr: Now, youll be 35 when this babys born?

Susan: Just barely.Dr: Well, 35 is the cutoff they use to determine whether this blood test isabnormal or not. The risk for Down syndrome for a woman at age 35is 1 in 270, so any risk which is higher than 1 in 270 is considered tobe an abnormal risk for Downs . . .That blood test measures three che-micals in your blood. . . What they do is take those measurements andadd them together with your age, your weight, how far along in thepregnancy you are, whether youre diabetic or not, and then all thatinformation is put into a computer, and the computer spits out num-bers for 3 things: spina bifida, Down syndrome, and trisomy 18. Its a

fairly good test for spina bifida; the blood test will catch about 85 per-cent of those cases. Its not so good for Down syndrome. It only catchesbetween 60 and 65 percent of cases of Down syndrome. So for Downs,it has a high false positive rate, meaning it misses about a third. . .Yours is positive for Down syndrome: you have a risk of 1 in 163. Whatdoes that mean? If I took 163 women your age, did a blood test on eachof them, and came out with this same result, one of them would have ababy with Down syndrome . . . [In order to know for certain] you havethe option to do a genetic testan amniocentesis . . . The complicationsfrom that test involve bleeding and infection . . . theres a possibility of

rupturing the membranes, which could lead to a spontaneous loss ofthe pregnancy. The risk of that is between 1 in 200 and 1 in 300 . . . Sothats where were at. There are data about studies theyve done withwomen whove had normal triple screens, and normal ultrasounds,and have still had a child with Down syndrome. With the [ultrasound]scan, we can lower your risk 50 percent, but I cant lower it much morewithout doing a genetic test, to actually know whats going on with thispregnancy. I cant tell you whether this baby has Down syndrome,based on this test, or any other test youve had up until now . . . Itsup to you whether you want to do this test or not. I cant make that

decision for you . . .Only you can decide whats best for you . . .Arethere any questions you want to ask?

Susan: What were you saying about the false positive rate?Dr: 5 to 7 percent, for you. When youre over 35, which youre not yet, but if

you were over 35, it could be as high as 22 percent.Husband: Wait a minute. Could you run that by me again?Dr: Of every 100 women who have that test result, somewhere between 5

and 7 will have a false positive. One out of 20 will have an abnormaltest, but theyll end up having a normal baby. One-third will have anormal test, but an abnormal baby; one-third of women with a normal

triple screen result will end up having a child with Down syndrome.The test is only 65 percent sensitive. It misses about a third . . .But thatsthe only screening tool we can offer at this time.


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Susan: I dont know. Im just confused . . . So, what Im understanding is,

this 5 to 7 percent, this is the chance my test was wrong.Husband: So theres a 93 percent chance the test is right.Dr: Uh, no. Wait a minute. Of every 100 women who have the test, five are

gonna be wrong . . . . You cant use it the other way, because it only hasa 65 percent detection rate . . . Its just a screening test. Its not a diagnos-tic test. Whats the likelihood that we do an amnio, and well find Downsyndrome? 1 in 163. Whats the likelihood we do an amnio and thebabys normal? 162 in 163. . .

Susan: Well, its not going to change anything. I mean, Im not going to doanything different if the baby has Down syndrome. So my problem

is, do I take the risk of the amnio, and maybe lose a perfectly goodbaby, or . . . [voice trails off]

Dr: Thats exactly what the problem is. And youre the only one who candecide what you want to do at this point.

Despite its outward simplicity, the notion of risk seems to be aTrojan horse carrying multiple meanings in both clinical and com-mon everyday usage. As is illustrated by this example, there arestriking differences in the ways clinicians and patients talk aboutrisk, reflecting a complex set of underlying constructs. We found

that these meanings were routinely conflated and remained unarti-culated in the ways those in this study were using the term. How-ever, the linguistic similarity of these discourses seems to disguisethis multiplicity of meanings and the ineffective communicationthat results from it (see also Hunt and Arar 2001).

In the following sections we illustrate the contrasting views ofclinicians and patients as they relate to the following risk con-structs: risk as a possible negative outcome, reasoning with riskstatistics, risk as a statistical probability, risk as an everyday con-

cept, and the experience of being at-risk.

Risk: a Possible Negative Outcome

The clinicians and patients in our study held distinct views regard-ing precisely what possible negative outcome (or risk) constitutedthe matter at hand, thus reflecting a very basic difference in theirperspectives on the fundamental goal of prenatal care. For these

pregnant women, prenatal care is primarily a strategy for nurturingtheir babies during the fragile time of pregnancy. In contrast theprimary concern for the clinicians is to prevent and control illness,so their orientation to prenatal care is to identify and attend to


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problems that may exist with the pregnancy (Hunt, de Voogd, and

Casta~nneda 2005).The following example illustrates how these contrasting

orientations can play out in the clinical encounter. The patient isa 25-year-old Mexican-born woman with a fifth-grade educationwho had been referred to a public prenatal genetics clinic becauseher screening test indicated risk for fetal Down syndrome. Shewas accompanied by her husband. The doctor, a fourth-yearOb=Gyn resident, tells the patient: Because of the blood test,[youre] at increased risk to have a baby with Down syndrome . . .

[the] test indicates a one in 157 risk for Down syndrome. The cou-ple smiles in relief, commenting to each other that its not verymuch. The doctor, seeing this reaction, explains that this figureraises concern because it is greater than the expected normal resultfor a woman her age. He tells her, Theres a test, amniocentesis,where we can know for sure if there is Down syndrome. Heexplains the procedure itself, then tells them that the risk of miscar-riage is one in 200. Upon hearing this, they say no right away.The doctor tries to clarify by comparing the two risk statistics. He

says that the risk of having an affected child is greater than the riskof a miscarriage resulting from the procedure. Despite this press-ure, the couple still says no. The patient says that shes afraidbecause she had a miscarriage with her last pregnancy. The doctorrepeats several times that the amniocentesis is the only sure way toknow. Throughout this discussion both the patient and her hus-band comment that they would have the child regardless, even ifit has Down syndrome. They wonder, So, why should we do thetest?

Later, during her interview, this patient told us that she decidednot to go ahead with the amniocentesis because she was afraid oflosing it like the other one. She said that, because she and her hus-band would love the child regardless of how it came out, her mainconsideration was that she wouldnt be able to live with herself ifshe were to miscarry as a result of having the amnio amniocentesis.

This example illustrates the notable difference between the nur-turing stance of patients and the problem-oriented approach of clin-icians and how this difference is manifest in their interpretations of

the concept of risk. Our interview data further document this dis-tinction. When asked about the value of the amniocentesis, morethan two-thirds of the clinicians responded that it gave patientsknowledge about their childs condition. The clinicians understood


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the value of this knowledge in terms of problem management, such

as providing the basis for making choices regarding terminationor allowing for preparation for the birth of an affected child.

However, patients did not frame the value of the test in thoseterms. While nearly all the patients who had accepted amniocent-esis said that they wanted to know, they did not seek this knowl-edge in order to identify problems. Quite to the contrary, theywanted the knowledge in order to dispel worry and to be reassuredthat their baby was healthy. At the same time, all but one of thosewho declined amniocentesis said they did so because they were

unwilling to take the chance of provoking a miscarriage.Consider the reasoning of the following patient, who incorporatesboth of these lines of thinking. The subject is 28 years old and wasborn and raised in Mexico. She has been living in the United Statesfor ten years, has attended some college, and works as a house-keeper in a hotel. She was referred to the public genetics clinic fromher neighborhood clinic because her blood-screening test showed anincreased risk for Down syndrome. At her first appointment sherefused the amniocentesis because of the miscarriage risk, opting

instead to go for a more specialized ultrasound. As she put it, shewasnt convinced during that first appointment. Before attendingher second ultrasound appointment she talked with her familyabout her decision. Subsequently, after the second ultrasound, shedecided to go ahead and do the amniocentesis in order to be surethat her baby was all right. So, while she initially declined becauseshe was afraid she would lose the baby, with the encouragementof her family, she decided to go ahead and have the test, saying itsbetter to know, both for the baby and for yourself.

We propose that the dissimilarity in the value clinicians andpatients place on amniocentesis reflects deep, inherent, but unarti-culated differences in how each group evaluates what is at stake.For patients, the value of the pregnancy is in the foreground, whilefor clinicians the disvalue of the anomaly is in the foreground.

Reasoning with Risk Statistics

In our observations clinicians regularly presented patients with riskpercentages as a kind of comparative calculus, weighing the per-cent risk of miscarriage against the percent risk of an anomaly indi-cated by the screening test. Their implication was that, if the risk of


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the anomaly is higher than is the risk of miscarriage, it makes

sense to consider the amniocentesis. The clinicians comments inthe following excerpt illustrate this tactic. Here, a certified geneticscounselor is talking to a 32-year-old Mexican American patient andher husband in a private clinic.

The difference between the blood test and the amnio is that with the amnio,one in between two hundred and four hundred times that they do the test,it will cause a miscarriage. So theres between a quarter and a half-of-onepercent chance of that happening. When we compare that to the three per-cent chance of the baby having Down syndrome, we see that it is reason-

able to offer you the test, but you dont have to have it. It is a voluntarytest. Its up to you to decide if you want to have it or not.

Patients were thus routinely asked to weigh two different kindsof risk against each other in making their decision, as though thiswere a straightforward contrast of comparable numbers. It is note-worthy that, in terms of likelihood, these two risks are in no wayrelated: they are computed in completely different ways and aredrawn from completely different populations. The utility of such

a comparison for individual decisions is questionable, at best. It isinteresting to consider that, although this was a fairly commonpractice employed in about a quarter of the consultations weobserved, not a single patient mentioned these comparisons whendiscussing her decision-making process. This suggests that theymay not have taken this to be a meaningful kind of comparison.

Risk: A Statistical Probability

Numerical risk estimates of the likelihood of a fetal anomaly areclearly central to the clinical impetus for offering amniocentesis inthe first place. The clinicians we observed and interviewed all dis-cussed risk in terms of specific numbers, and they did so at length.In contrast, the patients in our study rarely invoked numerical risksas a central element of their decision-making process. While nearlyhalf did mention a specific number at some point in the interview,most often they were referring to the risk of miscarriage rather thanto that of the anomaly, and, nearly uniformly, the numbers they

quoted were inaccurate.Generally, when patients did talk about risk, they employeda simple dichotomous notion of high or low risk ratherthan the more specific consideration of risk status implied by


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enumeration. Even when they did name a specific number, this

dichotomous thinking remained their emphasis, with the numbersbeing invoked only to illustrate their point that their risk was eitherhigh or low. The following quotes were typical of our patients com-ments about risk: The results were coming very low, they werecoming back very low on the Triple Screen; It kind of made menervous at first when they told me it might have a risk, especiallywhen it came out high risk; and They told me, Your blood testscame out bad. They are very highthe test that they did to seeabout the baby.

One might presume that this merely reflects simplified thinkingon the part of the patient, but we have some evidence that thesource of this dichotomous view may actually be the cliniciansthemselves. Although clinicians may feel that numeric risk ratiosare essentially neutral, in about half of our observations risk stat-istics were presented with value-laden qualifiers. The clinicianswe observed often used terms such as high, very low, raro(rare), muy peque~nnito (very tiny), muy grande (very large),very small chance, or probably nothing wrong.

On the surface, clinicians providing this kind of interpretivevocabulary may seem to be acting in a way that is inconsistent withthe principle of non-directiveness. However, in almost any otherclinical encounter the clinician would be expected to help patientsidentify the cut-points for interpreting numerical lab results. Assist-ing patients in understanding these numbers may be both anunavoidable and a necessary part of helping them process thisinformation.

Patient confusion was not limited to recalling risk figures.

Indeed, patients often seemed to have also internalized a rathernon-specific notion of what might be wrong with the fetus. In con-trast, the clinicians, for the most part, were focused very specificallyon a particular anomaly. For example, during interviews clinicianswere asked to role-play conducting a genetic counseling session,but they were often unable to begin without first being given a spe-cific anomaly to discuss. In contrast, the patients often did notknow which disorder their fetus had been found to be at risk for.Less than one-third correctly identified the condition indicated by

the screening test. In fact, most patients did not name a specific con-dition but, instead, cited vague reasons for having been referredto the genetics clinic, such as a bad result on a blood test orhaving had exposures. A few actually named the wrong


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condition. For example, one patient at the public clinic was found to

be at risk for trisomy 18. We observed that her consultationincluded extensive discussion of the nature of this condition, butstill, in her interview, she repeatedly stated, the baby had Downsyndrome.

One is led to wonder how informed decision making can occurwhen so many patients do not recall the risk figures they weregiven as a central part of their consultation, nor recall whichcondition they were being asked to make a decision about. Thisraises serious questions about the relevance of the type of infor-

mation they are being asked to consider.

Risk as an Everyday Concept

The term risk is a common word in our language and it has mul-tiple everyday meanings, many of which have no clear relationshipto the statistical concepts of risk modeling. For example, one com-mon colloquial meaning of risk that often appeared in these consul-tations is the idea that there is an inherent, unavoidable riskiness

to everyday living. We observed many of the clinicians appealing tothis sense of risk in the course of discussing risk figures withpatients. They would point out that amniocentesis is no more riskythan is any other surgery, or they would cite miscarriage rates forpregnancies without amniocentesis. When patients found the stat-istical risks unwieldy, clinicians were especially likely to draw onmundane analogies such as playing the lottery or driving a car.For example, one physician explained to us how she tries to getpatients to understand the risk concept:

Well most people understand that there are good things and bad thingsthat can come about from doing anything. You know, if you decide to walkacross the highway, youre taking a chance that one of the cars might hityou or you might make it all the way across. Well, thats a risk, and ifyou take any kind of procedure in medicine like an amniocentesis, thereare possibilities of things happening that you dont want to happen, andthose are risks.

In contrast, only one of our 40 patients recalled this type of

analogy, and, when she did, she inflated the one-in-200 risk thathad been described to her during her genetics counseling session,referring to a 50=50 chance of something going wrong. Inher words:


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But then she told me something that I was familiar withbecause I had

had three surgeries already beforeshe told me the same thing these sur-geons told me. She said, This is like having a surgery, you go in under theknife. And its a 50=50 chance. You know, you go in not knowing if youregoing to come out or not. Thats every surgery; every surgeon is gonna tellyou that. You know, this is a chance that you are taking. Any surgery is,you know, either=or, you know, its a 50=50 chance, either you have it oreither you dont.

Another tactic the clinicians commonly reported using involvedtheir trying to get patients to comprehend risk statistics by referring

to everyday images, such as people in a room. The following expla-nation, given by an Ob=Gyn resident to a patient in a public clinic,is typical of this approach:

If youve got 94 women in a room just like youyour same stage of preg-nancy, with the same blood test resultsone of those women, one out ofthose 94 women, just by chance, would have a baby with Down syndrome,and 93 of those 94 women would have perfectly healthy babies, but weoffer the test so that that one person in those 94 can know ahead of time.

Despite the prevalence and common-sense appeal of this type ofanalogy, it is interesting that none of the patients mentioned it inher discussion of risk. Although the clinicians had developed manysuch creative and accessible tactics for helping patients to under-stand numeric risk, the statistical notion of risk did not seem toenter into the decision making of the patients we interviewed. Inthe next section we see that patients were not concerned with popu-lation trends but, rather, were fixed on the well-being of their ownpregnancy.

The Experience of Being At-Risk

An interesting theme that emerged in our analysis of patient inter-views is that many women interpreted the at-risk status of theirpregnancy not as a probability but, rather, as indicating that theirbaby was in fact ill (for a more complete discussion of this point,see Hunt and de Voogd 2003). For them, the at-risk concept wasnot understood to mean that something could be wrong but that

something actually was wrong. It is especially noteworthy that thesewomen used this terminology even though, at the time that weinterviewed them, all but one who had undergone amniocentesishad already received a normal result.


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Nearly half of the women used language that indicated that they

had perceived their baby to be sick, when told of their risk status.For example, one patient, a 20-year-old high school graduate whonow works in a restaurant, told us: When I took that test, my resultscame out bad and thats when they sent me there [to the geneticsclinic]. Thats when they said there was something wrong with thebaby. Another woman, a 24-year-old housewife who was pregnantwith her third child and who was also a high school graduate, said:

The Triple Screen test came up that my baby was sickI think they saidthat he had Down syndromeThe doctor wanted me to take the amnio-

centesis because the sonogram wasnt showing anything. It was showingthat the baby was okay, but the Triple Screen was showing that he was sick.

A third patient, a 31-year-old woman who had attended somecollege and who currently worked in customer service, explained,He told me, because your blood count is not what its supposedto be. . . that it was 100 percent chance that the baby could be [bornwith] Down syndrome.

Thus, for many of these patients, the at-risk screening test result

cast their pregnancy into a quasi-disease state. But should thisresponse be viewed as simply a misunderstanding of the conceptof risk on the part of the patients? Or would it be better understoodas a reasonable effort to interpret population level risk statistics asthey apply to a single case?

This brings us back to the important question of the differencebetween epidemiological and clinical usages of the concept of risk.These significant differences remained unaddressed in both theclinician interviews and the clinical observations. This has led us

to wonder whether the clinicians themselves may misunderstandhow risk statistics ought to be translated from the population levelto the individual patient. For example, consider the comments ofone Ob=Gyn physician:

I guess I try to explain to certain patients that in medicine we use numbers.The reason why we use numbers is because we do studies in which we seehow certain events happen in a very large population, and we make a num-ber that corresponds to the amount of time the certain event happens in avery large population. And because its such a large population we can

apply that to everybody.

The notion that a large sample renders statistics applicable to allindividuals amounts to a misapplication of population statistics


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(Bernard 1994). There are, in fact, few rules for translating the

intrinsically aggregate-level continuous concept of risk into lan-guage useful for individuals (Rockhill 2001:365). This is evidentin the way that clinicians struggle both to understand and toexplain the kind of inferences that are possible from population-based risk modeling. Risk factors refer to aggregates of individuals,not to individual cases. This distinction is generally left out of dis-cussions of risk assessment in clinical settings and has resulted in awidespread, but erroneous notion that risk is an intrinsic propertyof an individual. In fact, on an individual level, risk factors are poor

predictors of who will actually develop a condition or disease. Forthe individual patient, risk status is never one in 151, forexample. Such numbers can only apply to aggregates of people.Rather, for an individual case, risk status is accurately vieweddichotomously as either 0 percent or 100 percent: the patient eitherhas an affected fetus or she does not; the procedure either provokesa miscarriage or it does not (see also Rockhill 2001; Kolker andBurke 1993). The gray areas of probability are not clearly meaning-ful at an individual level. This is especially problematic for individ-

ual patients trying to figure out what the risk statistics actuallymean for their own situation. Susan, the patient whose consultationwe considered at length earlier in this article, expressed just suchpuzzlement when we interviewed her:

Interviewer: Do you feel like you and the doctor understood each otherpretty well?

Susan: No, I wouldnt say pretty well. . . Maybe its because I never really gotthe statistic thing [laughs]. . . I was looking for him to say his opinion

and he really didnt. I understand he wants to be neutral, but I felt hedidnt understand what I was asking of him. I wasnt asking him tomake that decision for me. I wanted to know what he thought. Andthen the statistic thing just blew my mind. Which is sad because Iteach math [laughs]. I just didnt get it. I thought, Well does it meanthis or does it mean this? Because if it means this, well then thatsreally bad. And then hed come back and say, Oh no, no. [Quietly]I was like, Okay, never mind, just skip it [laughs].

Interviewer: Did your husband get that part?Susan: No, we were about the same level actually. Well, see I, I even try to

still do it, and its like 60 percent of the time itll come up positive,but it still misses this much. And then out of those 60 percent, 5 to 7percent are false positives. . . Its just that when you take a percentof a percenthow does that seem like a higher chance of a defect


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than my one in 163? Which is what my odds are now, so, I just

didnt see that whole relationship [little laugh]. Im going with theone in 163 cause thats a lot better [laughs].

RECONCILING CLINICAL AND PERSONAL MEANINGS OFVULNERABILITY AND DANGER

Our analysis challenges the current emphasis placed on communi-cating risk status as a central element in informing patient decision

making in prenatal genetic testing. By contrasting clinician andpatient perspectives we encountered a complex picture of multipleand divergent meanings of risk, some of which overlap andmany of which do not. For the most part, the linguistic similarityof the two discourses obscured these multiple meanings. The termwas used indiscriminately, with neither patients nor cliniciansseeming to be aware of these distinctions. Efforts to negotiate thesedivergent views were often less than successful due, at least in part,to failure to attend to the important differences in the meanings

each group was attributing to the term risk.The clinicians discussion of risk focused on trying to identifyand control potential problems in the pregnancy. They used riskstatistics as the primary means of determining the best course ofaction, calculating probabilities for each patient based on popula-tions with similar characteristics. And risk status was the centraltheme in the information they presented to patients.

In contrast, the patients central concern was not in identifyingproblems but, rather, in assuring the well-being of the baby. They

did not assess the notion of risk in terms of group probabilitiesbut, rather, as an indication of actual present or future danger intheir own particular case. They generally did not engage with theconcept of risk as the clinicians presented it. They did not comparerelative risks, invoke specific numeric risk figures, or employ theclinicians mundane analogies; instead, they responded to a gener-alized sense that their baby was in danger, and their decision mak-ing reflected this logic, rather than the logic of risk assessment andrisk reduction. But what of informed consent? Do patients need to

better understand risk statistics so that they can better apply themto their health care decisions?A basic aspect of obtaining patients informed consent, which

is a crucial part of clinical responsibility, is that the patient


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understand information pertinent to the decision sufficiently to be

able to make a rational choice (Beauchamp 1994; Braddock 1997;Headings 1997). Burgess (2001) has noted that genetic testingposes an additional challenge to informed consent: in contrast tosituations in which the doctor prescribes or recommends anappropriate course of action, genetic testing requires patientsto evaluate for themselves the expected costs and benefits ofhaving the test. As we have seen, the patients in this study didnot evaluate the risks, presented as the centerpiece of theirdecision, in a way that was at all parallel to what the clinicians

seemed to expect. They did not weigh relative probabilities somuch as react to a sense that their babies were endangered. Couldthe failure of these patients to interact with risk statistics reflect adeeper problem than the ineffective communication of complexclinical information? Could it be that clinicians emphasis onstatistical modeling to facilitate individual clinical decisions ismisplaced?

At present, clinical applications of our rapidly growing geneticknowledge are primarily limited to such risk modeling. Yet, with-

out distinguishing between epidemiological, clinical, and laynotions of risk, the relevance of these models may be unclear. Fromthe lay perspective, an at-risk health status will be understood inpersonally meaningful terms, either as the harbinger of future ill-ness or as a current illness in itself (Hunt and de Voogd 2003;Gifford 1986). While not urgently problematic to the clinician, foran individual this misdirected impetus for action may be both con-fusing and deeply threatening.

Some have argued that the at-risk status may undermine, rather

than promote, a patients autonomous decision making. Patientsmay respond not so much to numeric ratios as such, as to the fearand uncertainty that their risk status engenders (Browner and Press1996; Huibers and van t Spijker 1998; Hunt, de Voogd andCasta~nneda 2005). In the broader picture, utilization of risk modelingcontributes to the politicization of health care by defining averagesand norms, transforming those who fall outside the norms into astate requiring supervision, medical expertise, and an obligationto self-regulate their behaviorsall in an effort to control risk. In

keeping with the increasingly neoliberal model of patient care, riskstatus is thus perceived as an intrinsic property of an individual,subject to manipulation through behavior modification (Lupton1999; Rockhill 2001).


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The case material we have presented here, while not designed

to test such broad critiques, underscores other, perhaps moremodest, concerns about the heavy reliance on risk-modeling incurrent clinical practice (Skolbekken 1995). While our commentaryis based on a small convenience sample of only one type of clini-cal encounter, it raises important questions about the ability ofpatients to make autonomous, informed choices when they areencouraged to understand their own vulnerability based on riskcalculations. Failure to carefully articulate the multiple andcontrasting conceptual differences compacted within the notion

of risk can result in a conflation of population-level meaningswith clinical and personal meanings. Our analysis leads us to pro-pose that these differences may result not simply from a failure toassure the effective transfer of information from clinician topatient, but also from the much deeper conceptual issues we haveexamined in this article. Attending to these divergent meaningsmay prove useful in assisting patients to make truly informeddecisions in managing risk.

ACKNOWLEDGMENTS

This study was funded by the National Institutes of Health, Centerfor Human Genome Research (Grant #RO1 HG01384-04).Additional patient interviews were conducted with the financialassistance of the San Antonio Area Foundation. We wish to thankthe staff and patients whose kind cooperation made this researchpossible. We also would like to extend our gratitude to CaroleBrowner and Mabel Preloran (UCLA) for their collaboration

throughout all phases of this project. Further thanks are extendedto Teshia G. Arumbula Solomon, and the Edward P. Pozier andthe Peter K. New Awards Review Committees.

NOTES

1. The triple screen test followed by an amniocentesis can identify 60 percent to80 percent of cases where Down syndrome, neural tube defect, or trisomy 18are present (National Institute of Child Health and Human Development 1996).

However, the triple screen test also has a very high false-positive rate. While some10 percent of all women tested will have an abnormal Triple Screen test, only 1percent to 2 percent of these pregnancies will, in fact, have the anomalies inquestion (Alteneder et al. 1998). Thus, every year, a large number of women with


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unaffected pregnancies must undergo the decision-making process regarding theinvasive amniocentesis procedure.

2. Although all of these patients are of Mexican descent, that identity is not pertinentto the current analysis. A comparative sample would be required to explorewhether the experiences of these patients in responding to the risk classificationare distinct from those of other populations. Our literature review would lead usto expect that this is not the case.

3. All proper names are pseudonyms.4. While several states require that prenatal genetic testing options be presented to

patients by certified genetic counseling specialists, in Texas there is no suchrequirement.

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