Genetic Counseling

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Professional Psychology: Research and Practice Copyright 1996 by the American Psychological Association, Inc.

1996, Vol. 27, No. 5,475-486 0735-7028/96/S3.00

Genetic Counseling: A Developing Area of Interest for Psychologists


Shoshana Shilph
Tel Aviv University

This article presents genetic counseling as a challenging field for psychologists. Developments in the
field affect individual and public conceptions of the basic issues of reproduction and pregnancy,
health and illness, and normality and abnormality. Genetic counseling provides a uniquely struc-
tured setting in which to examine major psychological topics, such as coping with threatening events,
family dynamics, reactions to uncertainty, risk perception, and decision making. Psychological as-
pects of genetic counseling are presented on several key issues, including meanings of genetic infor-
This article is intended solely for the personal use of the individual user and is not to be disseminated broadly.

mation, patients' and families' coping with a genetic condition, recall and comprehension of infor-
This document is copyrighted by the American Psychological Association or one of its allied publishers.

mation conveyed in genetic counseling, and decision making. Four roles are delineated for psychol-
ogists in this new field: providing direct services to counselees, consulting with counseling teams,
training genetic counselors, and researching the psychological aspects of genetic counseling.

The entry of psychologists into the field of medicine, which of fate is now seen as avoidable, with responsibility assigned
has gained momentum in the last decade (Taylor, 1990), re- to the parents (Lippman, 1992) and sometimes to health care
quires adapting to a variety of new settings. My intent with this professionals. The possibility to predict by genetic testing the
article is to familiarize psychologists with an area especially risks for developing serious diseases, like breast cancer, has
suited to psychological applications: genetic counseling. Con- raised dilemmas that have grave psychological consequences
trary to popular belief, many genetic conditions are far from (Struewing, Lerman, Kase, Giambarresi, & Tucker, 1995). Psy-
rare. Although only some 3% of all pregnancies result in the chologists will be asked more and more often to help both cli-
birth of a child with a significant genetic defect, progress in the ents and professionals deal with the psychological implications
treatment and prevention of other diseases has meant that today of these dilemmas. Meeting this challenge requires an under-
genetic disorders account for about 40% of childhood mortality standing of the issues involved.
and 5-10% of all pediatric hospital admissions. Many chronic Genetic counseling, the main clinical application of the new
diseases—including diabetes, cancer, hypertension, and schizo- genetic knowledge, is defined as a communication process
phrenia—are now known to have a genetic component, and ad- meant to help an individual or family (a) comprehend medical
vances in genetic diagnostic technologies are dramatically ex- facts, including diagnosis, probable cause, and available man-
panding the possibilities for genetic screening and prenatal di- agement of a disorder; (b) understand how heredity contributes
agnosis (Gelehrter & Collins, 1990). These advances gained to the disorder and the risk of recurrence in relatives; (c) choose
impetus from the Human Genome Project, which was initiated and follow the most appropriate course of action in view of risks
in 1988 by the United States Department of Energy and the and family goals; (d) make the best possible adjustment to a
National Institutes of Health with the goal of obtaining the en- disorder in an affected family member; and (e) deal with the
tire human DNA sequence (Watson, 1990). risk of recurrence of that disorder (Fraser, 1974). This defini-
These developments have spawned major issues for individu- tion is broad enough to apply to most genetic counselings: pro-
als and for society. Pregnancies once assumed normal until viding pre-amniocentesis counseling for pregnant women
proven otherwise are now viewed as risky and fraught with ab- whose fetuses are at-risk for genetic defects because of the wom-
normalities until potential defects are ruled out by genetic tests. an's age or other reasons; discussing genetic risks with blood-
A birth defect that was once perceived as an unfortunate stroke related couples considering marriage; contacting parents dur-
ing the crisis following fetal or neonatal death; informing par-
ents of their child's genetic condition and helping them decide
SHOSHANA SHILOH received her PhD from Tel Aviv University in 1983. about risky options for future pregnancies; meeting with family
She is currently senior lecturer with the Department of Psychology, Tel members or prospective spouses of clients to discuss family se-
Aviv University, and is head of the Counseling Psychology Program. She crets; preparing a community for a genetic population screening
teaches, investigates, and writes on health behavior, psychological as- program; explaining the meaning of genetic test results to indi-
pects of genetic counseling, and decision making. This article was pre- viduals found to be carriers of a mutated gene; informing cou-
pared while she was on sabbatical at the University of Michigan Institute ples about genetically related causes of their infertility or about
for Social Research. their abnormal chromosomal makeup that sometimes means
I GRATEFULLY ACKNOWLEDGE Amiram Vinokur, Abby Lippman, Azy
Barak, and Yona Teichman for their helpful comments on a draft of this
an ambiguous sex genotype; and discussing with offspring of
article. affected parents the possibility of developing the same genetic
CORRESPONDENCE REGARDING THIS ARTICLE should be addressed to condition later in life. The interested reader can find valuable
Shoshana Shiloh, Department of Psychology, Tel Aviv University, Tel detailed descriptions of genetic counseling cases in two case-
Aviv 69978, Israel. books, one by Applebaum and Firestein (1983) and one by
475
476 SHILOH

Marks, Heimler, Reich, Wexler, and Ince (1989). Although the small, but important, genetic component, such as breast cancer.
diversity of problems makes generalizing difficult, there is Coping with a specific genetic disorder depends on its unique
sufficient common ground to identify general themes, especially characteristics. A review of the literature on specific genetic
with regard to the psychological dimension of genetic counsel- conditions, their associated difficulties, and the needs of
ing. These general themes are the focus of the present review. afflicted individuals and families is beyond the scope of this ar-
Some components of genetic counseling make it more psy- ticle. Rather, themes common to many genetic conditions are
chological than other medical encounters. It is denned as a pro- addressed, with a word of caution: The specific nature of genetic
cess of communication, and although this is an important ele- conditions limits their generalizability, and the topics covered
ment in most medical practices, it is the essence of genetic coun- here are to be read as illustrations of themes and not as exam-
seling and not a means to other ends. Genetic counseling deals ples applicable to other conditions.
with human problems associated with the occurrence or risk of Genetic conditions have a bad reputation. Unlike other dis-
occurrence of a genetic disorder in a family, not with the disor- eases that are experienced as ego-alien, genetic disorders are ex-
der itself (which may not even be present, as when the counselee perienced as part of one's self, with no option to diminish the
This article is intended solely for the personal use of the individual user and is not to be disseminated broadly.

is a carrier of the genetic disease and not a patient). Cure is threat by projecting it onto an external cause. Genetic disorders
This document is copyrighted by the American Psychological Association or one of its allied publishers.

not a stated objective in the definition of genetic counseling and are commonly perceived as permanent, irreversible, chronic,
neither are treatment or prevention, though they are often pos- family-linked, stigmatizing, complex, and evocative of strong
sible. The objectives listed earlier—learning, understanding, emotions, such as fear, pity, and guilt for passing the defect to
choosing, coping—although recognized in other medical set- offspring (Kessler, 1979). Their universal meaning aside, the
tings in addition to the main goals of cure and treatment, are strong ties between cultural and health-related schemas
the ultimate goals of genetic counseling. Despite the stated ob- (Landrine & Klonoff, 1992) load genetic conditions with cul-
jectives and the emphasis on psychological components, genetic tural connotations. For example, some highly orthodox Jewish
counseling is handled by physicians (called medical geneticists) parents of children with genetic defects perceive their child's
who specialize in genetic disorders or by genetic counselors who problem as God's punishment for their deeds, and others per-
have an academic background in genetics plus training in ge- ceive it as God's test of their faith (Strauss, 1988). Psychologists
netic counseling. Although there is growing consensus about the working with genetic clients are expected to be particularly at-
professional standards and practice guidelines for genetic coun- tentive to such connotations. There is an increasing recognition
seling services that meet the psychological needs of clients that sensitivity to the cultural context is necessary for effective
(Thompson & Rothenberg, 1992), with special attention to genetic counseling with diverse cultural groups. Two cases in
predictive genetic testing of late-onset diseases (Went et al., point are the introduction of genetic screening programs for
1994), it is inevitable that psychologists will become increas- Southeast Asian refugee populations in California (Nidorf &
ingly involved in the process. Ngo, 1993) and genetic counseling about consanguineous mar-
The following review of selected studies highlights psycholog- riages in Arab or Israeli communities (Panter-Brick, 1991; Shi-
ical knowledge about genetic counseling in four main issues: the loh, Reznik, Bat-Miriam-Katznelson, & Goldman, 1995).
meaning of genetic information, patients' and families' coping
with a genetic condition, recall and comprehension of informa- Severity of Genetic Conditions
tion provided in genetic counseling, and decision making in the
context of genetic risks. Pertinent psychological processes re- Not all genetic disorders are equally severe, and their severity
lated to other current issues in health psychology are also dis- evaluations depend on one's perspective. Psychological pro-
cussed, including coping with stigmatic diseases, understanding cesses, like cognitive biases, can undermine the significance of
and recall of medical information, and patients' making diffi- threatening information in processing health-related facts
cult medical decisions. The final section lays out four roles for (Jemmott, Croyle, & Ditto, 1988). Because evaluation of the
psychologists in this field: providing direct services to counsel- severity of a threat is a major variable in coping with it
ees, consulting with counseling teams, training genetic counsel- (Folkman, 1984; Rosenstock, 1974), anyone who wishes to
ors, and researching the psychological aspects of genetic help with such coping efforts must understand the evaluation
counseling. processes involved. For example, hemophilia' was perceived as
milder by patients than by carriers of the disease gene (Markova
et al., 1986), and parents of children affected with a cleft lip
Psychological Meanings of Genetics Conditions and/or palate2 rated the condition of their own child as less
Addressing genetic diseases as a homogeneous entity is mis- severe than they viewed that same defect in general (Sagi, Shi-
leading. Defects in almost every physical and mental function loh, & Cohen, 1992). These results may indicate a tendency to
are represented in the 5,710 diseases identified as genetic compare one's condition to more severe cases; this tendency is
(McKusick, Francomano, & Antonarakis, 1992). Some genetic referred to as the downward evaluation coping process, which
defects are life-threatening, others are benign; some are disfig-
uring, and some are unnoticeable. Some entail extremely 1
Hemophilia is a disorder of the blood clotting system that mainly
difficult management, whereas others carry no daily burden. affects males and results in excessive bleeding following trauma and
Some cause progressive degeneration, and others are static. spontaneous internal bleeding.
Some start at birth, and some have late onset; some involve 2
Cleft lip and/ or palate is a polygenic congenital malformation in
physical disabilities and some mental. The field today also deals which the palate and sometimes the upper lip fail to close. It can be
with medical conditions other than genetic diseases that have a corrected by surgery.
GENETIC COUNSELING 477

can also be found among cancer patients striving to regain self- mous. Considering the affect-illness-cognition and behavior in-
esteem (Taylor & Lobel, 1989). In another study, pregnant teractions (Leventhal, Diefenbach, & Leventhal, 1992), it is
women rated the burden of various birth defects on scales that not surprising that at-risk individuals were reported to engage
combined their perceptions of the defects with their ability to in disturbing and dysfunctional behaviors, including actively
cope with them (Ekwo, Kim, & Gosselink, 1987). The less par- looking for telltale symptoms in themselves and other family
ticipants felt they could cope with the consequences of a genetic members, being extremely anxious at every benign sign, at-
condition, the more likely they were to accept amniocentesis. tempting to diminish their physical resemblance to the affected
These women were following the transactional model of stress parent, and feeling guilty when a sibling was diagnosed with the
and coping (Folkman & Lazarus, 1980; Lazarus & Folkman, disease. Disturbed family dynamic was also described, leading
1984), which incorporates the evaluation of available coping to patient preselection—the singling out in advance of an
resources into the definition of stress. asymptomatic family member to eventually become the
affected individual; denial of disease onset and even suicide were
Effects of Genetic Status on Health and also reported (Kessler & Bloch, 1989). These psychological
This article is intended solely for the personal use of the individual user and is not to be disseminated broadly.

Illness Perceptions processes must be recognized before any effective counseling


This document is copyrighted by the American Psychological Association or one of its allied publishers.

intervention can be applied. The recent advent of presymptom-


Perceptions of one's health status are central to one's self- atic diagnostic tests, which can determine who among the at-
concept. However, the clear distinction between healthy and risk persons has actually inherited the gene for the disease
sick is sometimes blurred in the context of genetic information. (without means to prevent or slow its occurrence), may solve
Such is the case when a healthy individual learns in genetic the problems resulting from uncertainty; however, these tests
screening that he or she is a carrier of a mutated (pathological) bring other equally serious ethical and personal dilemmas, in-
gene. There are two broad categories of being a carrier of a mu- cluding difficulty in communicating about the disease, thoughts
tated gene: one that does not have direct implications for the of suicide, depression, acute anxiety, and extensive use of per-
carrier's own future health and one that does. It is estimated sonal defense mechanisms.
that every individual unknowingly carries three to five recessive In view of these reactions, programs for predictive testing of
mutated genes that do not aifect his or her health status. It be- Huntington's disease include the following preventative steps:
comes important only if both partners are carriers of the same evaluation of counselees' reasons for seeking the test, readiness
mutation, in which case each pregnancy has a 25% risk of being for the results, suicidal tendencies, and depression; enhance-
aifected. However, people in a screening program found to be ment of coping resources and social support; and psychological
carriers of the Tay-Sachs3 gene expressed significantly more help to deal with negative reactions (Fox, Bloch, Fahy, & Hay-
worries about their future health than did noncarriers and con- den, 1989). Follow-up studies showed that, after a short period
trols (Marteau, Van Duijn, & Ellis, 1992). These heightened of shock followed by relief attributable to reduced uncertainty,
perceptions of vulnerability can lead to better health practices the distress levels of those with increased risk did not change
with a more realistic view of the future, rather than a prevailing significantly from the baseline: Their distress tended to decrease
unrealistic optimism about susceptibility to health problems after 6 and 12 months by making extensive use of avoidance
(Weinstein, 1984). However, they can also trigger psychological and denial coping mechanisms. The distress of the reduced risk
difficulties and alter marital and reproductive plans (Broide, group was significantly lower than their baseline in all follow-up
Zeigler, Eckstein, & Bach, 1993). contacts in one study (Wiggins et al., 1992). However, in an-
The psychological impact of genetic screening programs re- other study (Tibben et al., 1992), a short period of relief was
ceived special attention following one carried out in the 1970s followed by deteriorating emotional states: Some participants
to detect carriers of the sickle-cell anemia4 gene. It proved to be returned to initial feelings of uncertainty by casting doubt on
a devastating experience for many individuals, causing anxiety, test results; they experienced survivor guilt and emotional
confusion, loss of self-esteem, social stigmatization, and dis- numbness and found it difficult to cope with the effects of the
crimination (Murray, 1984). These negative consequences test on the family. High degrees of distress were also found
were attributed to a failure to educate the community about the among spouses of carriers, a group that rarely seeks professional
meaning of the test, insufficient counseling services for detected help. These initial studies underscore the need to connect pre-
carriers, and insufficient safeguards of the confidentiality of re- symptomatic testing programs with ongoing psychological sup-
sults. The lesson was learned before the more sensitive Tay- port services to patients and their families.
Sachs screening program was introduced (Weatherall, 1991).
The ethical dilemmas, personal consequences, and counseling
3
needs associated with carrier screening were recently debated Tay-Sachs is a neurodegenerative disease caused by a metabolic de-
again, this time over population screening for cystic fibrosis5 fect that results in accumulation of fat in the brain. It leads to death in
(Roberts, 1990). infancy.
4
An entirely different genetically related health status is being Sickle cell anemia is a genetic blood disease caused by a defect in
the oxygen-carrying protein hemoglobin. It results in continuous de-
at risk for developing a genetic condition later in life. This status struction of red blood cells and severe anemia.
applies to offspring of patients diagnosed with a genetic disease 5
Cystic fibrosis is one of the most common genetic diseases. It is
determined by a dominant gene; for example, offspring of pa- caused by a defect in ion transfer through cellular membranes that re-
tients with Huntington's disease 6 have a 50% chance of inherit- sults in severe disease of the respiratory track and exocrine glands.
ing the defective gene and developing the disease some time in 6
Huntington's disease is a progressive, late-onset disorder expressed
the future. The psychological distress of this uncertainty is enor- by severe dementia and involuntary movements.
478 SHILOH

Population-based clinical testing for illness predisposition en- den Berghe, 1988). This finding can be attributed to the simu-
abled by recent discoveries of major disease genes, like the lation heuristic (Kahneman & Tversky, 1982): Learning what
breast cancer gene, is also pertinent here. However, before gen- could go wrong without the possibility of ruling out all possible
eralizing from Huntington's disease to such conditions, one defects raised the ease with which women imagined birth de-
must remember that the implications of carrying the breast can- fects and increased their sense of vulnerability.
cer gene are drastically different from carrying the Huntington's When test results show an abnormal fetus, the question of
gene, with regard to both the risk of developing the disease and abortion becomes central. Although in general most women re-
the effectiveness of preventative measures. Before such genetic gain their psychological well-being shortly after abortion (see
testing becomes widely available, strategies to minimize the ad- review by Dagg, 1991), women who have an abortion because
verse psychological sequelae and maximize the benefits of test- of abnormal findings in prenatal diagnostic tests were found
ing should be put in place, aimed at enhancing informed deci- to experience it as especially stressful and hard to cope with
sion making, minimizing adverse psychological consequences, (Jorgensen, Uddenberg, & Ursing, 1985). Such reactions may
and promoting adherence to recommended surveillance arise because of the following: pregnancies in these cases are
This article is intended solely for the personal use of the individual user and is not to be disseminated broadly.

(Lerman & Croyle, 1994). usually wanted, genetic disorders evoke guilt feelings, amnio-
This document is copyrighted by the American Psychological Association or one of its allied publishers.

centesis falls in the second trimester when fetal movements are


Coping With Genetic Conditions already felt and bonding with the fetus has been established, and
abortion at that stage of pregnancy is performed by induced
Coping with genetic threats is a process of several stages. With childbirth. The negative reactions in these cases increase if
early detection of fetal genetic disorders becoming so wide- abortion is advocated because of the need for a fast decision,
spread, coping often begins early in pregnancy at the time of and the reactions become even sharper when the woman feels
prenatal diagnosis. Another stage of coping begins at the time a external pressures to abort (Blumberg, 1984). Genetic coun-
genetic condition is diagnosed and develops into an ongoing selors recommended that counseling aimed at relieving some of
effort at adjustment to life with it. the burden associated with this situation be started as soon as
possible, preferably even before the decision to diagnose. It
Prenatal Diagnosis should include the following: reassuring women about the nor-
mality of their anxieties; providing information about the pro-
The most studied diagnostic procedure is amniocentesis, an cedures (the test or the abortion); organizing support groups of
invasive test in which a sample of amniotic fluid containing fe- other women and of spouses; discussing the possible reactions
tal cells is aspirated through the abdomen during the second and decisions of any test results in advance; helping the couple
trimester of pregnancy. Although many parents consider the op- reach a decision and supporting them afterward with their de-
tion of prenatal diagnosis a blessing, some feel social pressure cision; and helping them understand and deal with reactions of
to use it. The test itself carries a small risk of miscarriage, jeop- other children in the family, especially those who are affected
ardizing a wanted pregnancy; in addition, it raises the possibil- with the same condition diagnosed in the fetus (Beck-Black,
ity of having to make a decision about whether to terminate a 1990; Blumberg, 1984).
wanted pregnancy should the result be positive (i.e., the fetus is
affected). Emotional reactions to prenatal diagnosis cannot be After Diagnosing a Genetic Condition
understood separately from the special emotional state of preg-
nant women and their spouses, which is characterized by stress, When parents first learn about their child's genetic problem,
ambivalence, changes in self and body image, emotional insta- they experience loss of self-esteem, envy of other parents, and
bility, and changes in thinking processes (Reading, Cox, Sled- grief reactions, such as shock, denial, anxiety, guilt feelings, and
mere, & Campbell, 1984). Studies on various populations have anger (Antley, Bringle, & Kinney, 1984). Counselors have the
reported high levels of anxiety in women undergoing prenatal difficult job of supporting families at such critical moments. A
diagnosis around the time of the test, which tended to decrease number of counseling approaches have been suggested, drawing
after receiving negative results (Phipps & Zinn, 1986a; Tabor & on a variety of theoretical backgrounds. Tadmor (1986) de-
Jonsson, 1987; Tunis etal., 1990). Especially marked decreases scribed a model for the behavior of medical staff in cases of
in anxiety and depression were observed in women with a mon- neonatal death, aimed at recovering the couple's perceived per-
itoring coping style (being alert and sensitized to threat-relevant sonal control. Beck-Black and Weiss (1989) advocated social
information; Phipps & Zinn, 1986b), probably because it pro- support groups for parents of children with genetic conditions.
vided them with environmental cues that reduced uncertainty A developmental perspective for conceptualizing family ad-
and signaled safety. Other studies found that women undergoing justment to cystic fibrosis (CF) can illustrate some of the issues
amniocentesis experienced a greater increase in maternal-fetal involved in coping with genetic diseases (Carter, Urey, & Bid,
attachment from before to after receiving test results than did 1992), bearing in mind the warning about generalizing from
pregnant control women at comparable times in their preg- one condition to another. The first stage, the patient's infancy
nancy who did not undergo the test; the tested women presum- and early childhood, involves a search for an accurate assess-
ably suppressed their emotional ties with the fetus during the ment, anticipation of the severity of the child's condition, and
waiting period in preparation for an abnormal result (Phipps & adjustment to the somewhat unpleasant and time-consuming
Zinn, 1986a). There were also reports of heightened worries home treatments essential for routine prophylactic care of the
throughout pregnancy in women using prenatal diagnosis, even child with CF (inhalation therapy, chest percussions, and many
when the results were normal (Evers-Kiebooms, Swerts, & Van oral medications). The school-age stage involves adjustment to
GENETIC COUNSELING 479

the child's increased needs for autonomy, parental loss of total and that it can be adaptive: Over 40% of mothers interviewed
control over the child's physical well-being, and risk of behavior about the causes of their child's genetic problems attributed it
or adjustment problems. Adolescent and young adult CF pa- to their own past behaviors. Behavioral self-blame, as compared
tients demand emancipation in the face of disease-induced de- with external attributions (usually to doctors' behaviors) was
pendency. The patients have to deal with negative changes in found to be associated with more optimal parental perceptions,
self-image caused by physical appearance, diminished stamina, mood states, and interactions with their children (Affleck,
demanding treatment regimen, and delayed sexual develop- McGrade, Allen, & McQueeney, 1985).
ment. To minimize their differentness from their peers, many
adolescents with CF deny the severity of their illness by violat- Communicating and Learning Genetic Information
ing life style restrictions and not complying with treatment reg-
imens. At the same time, they develop an increasing awareness The information genetic counselors convey to clients is ex-
of their prognosis and proximity to terminal stages. Despite in- tremely complex and replete with uncertainties. It is associated
creased longevity, individuals with CF seldom survive beyond not only with hereditary recurrence, but also with the
effectiveness of prophylactic measures in some conditions or the
This article is intended solely for the personal use of the individual user and is not to be disseminated broadly.

young adulthood. The terminal stage is the most painful and


This document is copyrighted by the American Psychological Association or one of its allied publishers.

stress-producing stage of the illness. Parental feelings of help- variability of expression in others. Because educating counsel-
lessness and guilt grow as the child's health deteriorates and ees about their genetic condition is the essence of genetic coun-
sometimes persist well beyond the death of the child. Under- seling, the counselor has to have knowledge of what and how
standing family and patient adjustment to such heavy demands clients understand and recall genetic information in general and
necessitates multifactorial models that include the following: risk information in particular.
child, parent, and family characteristics; family premorbid
functioning and coping efforts after diagnosis; disease status; Learning Genetic Information
formal and informal family support networks; and characteris-
Most studies that focus on educational aspects of genetic
tics of the health care system.
counseling show that counseling effectively increases counsel-
Coping efforts of individuals afflicted with genetic problems
ees' knowledge of their problems, but that learning is still less
were grouped by Kessler (1984) around four topics: pursuing
than optimal (literature reviewed by Kessler, 1989). Failure of
hope, learning information, constructing meaning, and acquir-
counselees to learn genetic information is attributed to their
ing new coping methods. These are similar to the topics identi-
personal characteristics, like low education and emotional de-
fied in the theory of cognitive adaptation to threatening events
fense mechanisms, or to counseling attributes, like counselors'
(Taylor, 1983). Both formulations revolve around issues of con-
communication skills and non-use of educational aids. Several
trol, which seem to offer a potentially powerful integrating con-
studies showed a relationship between learning of genetic infor-
cept for understanding and predicting coping with genetic prob-
mation and its relevance for the counselee, with high relevance
lems. Genetic counseling can offer various ways to regain
facilitating counselees' learning. For example, recurrence risk
different dimensions of personal control: cognitive—a better
was remembered better by families considering having more
understanding of the condition; decisional—an opportunity to
children than those who were not (Lippman-Hand & Fraser,
choose among various courses of action; and behavioral—avail-
1979c), and women choosing amniocentesis had a better recall
ability of an instrumental response that may directly influence
of the risks of the procedure than those who decided against the
or modify the threat (like using prenatal diagnosis or an
test (Ekwo, Seals, Kim, Williamson, & Hanson, 1985). Some
effective treatment for the disease). Recent findings in a follow-
authors draw a distinction between recall and understanding of
up study on genetic counselees support the notion that (a)
the information conveyed in genetic counseling (Bringle & An-
counselees' perceived personal control is increased after genetic
tley, 1980), further emphasizing the importance of the personal
counseling in comparison to prior perceptions, and (b) per-
over the general meaning of that information.
ceived personal control mediates the effects of genetic counsel-
ing on counselees' use of more problem-focused and less emo-
tion-focused coping styles (Shiloh, Berkenstadt, Miran, Bat- Risk Information
Miriam-Katznelson, & Goldman, 1995). Counselees' processing of risk information (i.e., the chances
Many of the parents' coping efforts relate to their previous that a genetic defect will occur in the future) closely follows the
lifestyles, experiences with health problems, and particular cop- literature on risk perceptions (Slovic, 1987; Shiloh, 1994). A
ing styles, beliefs, and cultural backgrounds. Families accepting study of audiotaped counseling sessions and follow-up in-
the positive meaning of their child's genetic condition (God's terviews characterized reactions to risk information as a "bi-
will) displayed better adaptation than families accepting the nary perception" process, in which numeric risk information is
negative (punishment) meaning (Strauss, 1988). In a study on translated into two broad binary categories: The event will or
mothers of children with spina bifida7, those with more sup- will not happen (Lippman-Hand & Fraser, 1979b). Counselees
portive families and marriages and less conflicted and control- thus emphasized the uncertainty of the information, which
ling families reported lower levels of psychological symptoms
(Kronenberger & Thompson, 1992). With regard to the con-
troversy about the role of self-blame in coping with health prob- 7
Spina bifida is a relatively common central nervous system malfor-
lems (Sholomskas, Steil, & Plummer, 1990), there is evidence mation in which the meninges and neural tissue of the spinal cord are
that personal attributions to genetic problems can coexist with involved in a lesion on the child's back, causing paralysis and loss of
appropriate understanding of the medical facts (Weil, 1991) sensation below the lesion.
480 SHILOH

they tried to resolve by a set of personally relevant evaluations, tive chances versus positive chances of having a healthy child
like whether they were themselves infected with the genetic de- was found to affect participants' decisions to use prenatal diag-
fect. In contradiction to basic assumptions of normative models nosis (Marteau, 1989), similar to previous findings about the
of judgment and decision making (Edwards, 1961), an interac- effects of positive versus negative presentations on choice
tion was observed in many of the interviews between evaluation among therapeutic options (McNeil, Pauker, Sox, & Tversky,
of the severity of the genetic problem (outcome utility) and the 1982). In practice, this line of research is especially important
perception of its risk (subjective probability). The recurrence with regard to findings that counselors intentionally or uninten-
risk became, in the eyes of many counselees, part of the overall tionally presented genetic risks to women in ways that could
severity of the condition, rather than a separate piece of influence their decisions to use prenatal diagnosis (Marteau,
information. Plenicar, & Kidd, 1993). A better understanding of the ways
There are large differences between counselees' inter- in which presentation styles affect counselees' perceptions and
pretations of objective recurrence risks, and the same risk fig- decisions may help with the development of guidelines for com-
ures are perceived as high or low by different counselees. These munication in genetic counseling that protect against biases.
This article is intended solely for the personal use of the individual user and is not to be disseminated broadly.

differences have been attributed to demographic variables, like


This document is copyrighted by the American Psychological Association or one of its allied publishers.

parity, a family history of a child with Down's syndrome, and Decision Making in Genetic Counseling
age (Ekwo et al., 1985). Other studies have found that motiva-
tion influences risk information processing in a way that facili- One of the main objectives of genetic counseling is to help
tates preferred decisions: A negative correlation was found be- counselees decide among available options. New genetic tech-
tween the counselees' motivation to have more children nologies constantly add new options (such as presymptomatic
(measured before counseling) and postcounseling subjective tests for late-onset genetic conditions) and new genetic therapies
risk perceptions (Shiloh & Saxe, 1989). This finding supports and interventions. Although the available choices would appear
the view that, although motivated reasoning is generally con- to increase counselees' control over their destiny, they are actu-
fined to what can be defended as rational (Kunda, 1990), in ally experienced by many as an additional burden. Decisional
health issues there is a constant tension between accuracy mo- difficulties and dilemmas are therefore expected to be major
tives and the desire to arrive at a favorable conclusion (Croyle, reasons for seeking psychological help. Most of what is known
1992). Other judgmental heuristics can be demonstrated in ge- about genetic-related decisions revolves around matters of re-
netic risk perceptions. Postcounseling subjective perceptions of production, whereas studies on decisions about predictive ge-
recurrence risks were better predicted by expectations of risk netic testing are still sparse. This scarcity explains why the for-
before counseling than by the objective risk provided in coun- mer studies far outweigh the latter in the following discussion of
seling (Shiloh & Saxe, 1989), an expression of the anchoring issues related to decision making in genetic counseling (for a
heuristic whereby people's judgments under uncertainty are de- more extensive review on decision making in genetic counsel-
termined by the point from which they began their delibera- ing, see Shiloh, 1995).
tions (Tversky & Kahneman, 1974).
Descriptions of Decisions and Decisional Process
Communication Styles
Decisions in genetic counseling can often be described as a
Some studies have investigated how the information is com- chain of consecutive choices (i.e., a decision tree), for example,
municated by genetic counselors in terms of "framing effects" whether or not to use prenatal diagnosis and, then, whether or
(Tversky & Kahneman, 1981), asserting (a) that people might not to continue a pregnancy with an affected fetus (Beeson &
change their decisions according to how the problem is pre- Golbus, 1985). Both counselees and health professionals may
sented, (b) that they are usually unaware of these influences, confuse these two decisions and assume that a decision to use
and (c) that they would prefer not to be influenced by presen- prenatal diagnosis implies a choice to terminate the pregnancy
tation variables. Lippman-Hand and Fraser (1979b) described of an affected fetus. Evidence is accumulating that these are sep-
the tendency of genetic counselors to use evaluation words like arate decisions. Some 50% of parents of children with a cleft lip
low chance in communicating recurrence risks below 10%. One and/or palate indicated their intention to use prenatal diagno-
study asked participants to compare mathematically equal sis for this defect, but only 25% would terminate an affected
statements (or frames) of genetic risks presented as percentages fetus (Sagi et al., 1992). Disentangling decisions is sometimes
or proportions: Participants who used numerical reasoning the key to helping counselees weigh and choose among options.
tended to perceive percentages as having a greater risk magni- Perceived benefits of prenatal testing, such as the ability to pre-
tude than equivalent odds. When person reasoning was used, pare oneself emotionally, were found to predict both the inten-
proportions with denominators of 10 or less tended to be per- tions to use the test and to abort an affected fetus. In contrast,
ceived as having greater risk magnitude than equivalent per- perceived severity and risk of the identified defect were found to
centages, presumably because these participants tended to predict only the intention to diagnose, whereas attitude toward
imagine actual individuals rather than evaluate abstract figures abortion was a significant predictor only of the intention to
(Kessler & Levine, 1987). In another study, risk perceptions abort an affected fetus (Sagi et al., 1992).
were affected by whether they were presented as single risks or That a particular decision can result from different consider-
in comparison with other risk figures: The former resulted in ations was recently noted with regard to predictive testing for
overweighing low probabilities and underweighing high proba- Huntington's disease. The two main reasons for testing were
bilities (Shiloh & Sagi, 1989). Presenting genetic risks as nega- reduction of uncertainty (emotional) and planning for the fu-
GENETIC COUNSELING 481

ture (instrumental; Meissen, Mastromauro, Kiely, McNamara, avoid increased genetic risks when both spouses carry the same
& Myers, 1991), both of which can be interpreted as expres- gene for a genetic disease; undergoing genetic prenatal tests that
sions of need for control. Differences were found between test- carry a certain risk for miscarriage; and deciding whether or not
ing motivations of at-risk individuals and their partners: The to continue a pregnancy after learning that the fetus is affected
former focused on their own future health, and the latter fo- with a genetic disease or, worse, when the test results are incon-
cused on implications for their children (Evers-Kiebooms, clusive. The newer applications of genetic technology raise new
Swerts, Cassiman, & van den Berghe, 1989). It is therefore im- decisional dilemmas, such as deciding whether to undergo ge-
portant for psychologists who are involved in genetic counseling netic testing for risk of developing future diseases or, worse,
to be sensitive to differing agendas and to different views of op- whether to test one's children for such risks. The grave conse-
tions, even within the same family. . quences of these decisions that are embedded in profound
Attempts have been made to apply general decision-making moral and interpersonal dilemmas are frequently uncertain, be-
models, such as the Subjective Expected Utility (Edwards, cause information is largely probabilistic. An indication of such
1961) and the theory of reasoned action (Fishbein & Ajzen, difficulties in deciding to undergo predictive genetic testing is
This article is intended solely for the personal use of the individual user and is not to be disseminated broadly.

1975), to describe the right decision-making process in genetic seen in the recent finding that, although most people at risk for
This document is copyrighted by the American Psychological Association or one of its allied publishers.

counseling (Bringle & Antley, 1980; Pauker & Pauker, 1987). genetic diseases say they would get tested in the future (Hietala
However, like in the literature on behavioral decision making, et al., 1995; Markel, Young, & Penney, 1987; Sujansky et al.,
researchers have concluded that ratienal decision models are 1990), many do not (Evers-Kiebooms, 1990; Hoffman, 1994;
inappropriate for describing genetic counselees' decision pro- Meissen et al., 1991).
cesses (Beeson & Golbus, 1985). Recent attempts to apply a
health-specific decision model, the health belief model Nondirective Genetic Counseling
(Rosenstock, 1974), to explain decisions made by genetic coun-
selees proved more successful. Beliefs about the health threat, An additional difficulty for genetic counselees stems from the
the effectiveness of the available action in reducing that threat, fact that, unlike in most medical counseling, the genetic coun-
and barriers for performing that action were found to be pre- selor refrains from recommending a course of action, leaving
dictive of genetic counselees' intentions to do carrier testing and the decision and responsibility for the outcome to the counselee
prenatal diagnosis for genetic defects (Rowley, Loader, Sutera, (Wertz & Fletcher, 1988). This attitude represents the historical
Walden, & Kozyra, 1991; Sagi et al., 1992). development of genetic counseling, shifting away from eugenics
One descriptive model specific to the process of decision toward a client-oriented paradigm (Kessler, 1979). In view of
making in genetic counseling focused on counselees' desire to the general trends toward more patient participation in medical
reduce uncertainty (Lippman-Hand & Fraser, 1979a). In this decision making and more partnership in doctor-patient rela-
model, subjective perceptions of personal and medical facts are tionships (Quill, 1983; Speedling & Rose, 1985), the accumu-
combined into a cognitive scenario of trying out the worst, lead- lated experience with genetic counseling offers a setting for ex-
ing to a decision the decider feels he or she can cope with should amining such medical encounters. Forty-two percent of genetic
the worst happen. Another model presented a flowchart de- counselees wanted to hear the counselor's opinion of the right
scribing counselees' decision process (Frets, Duivenvoorden, decision, but most counselors tried to remain neutral (Somer,
Verhage, Ketzer, & Niermeijer, 1990), in which variables ex- Mustonen, & Norio, 1988). It is doubtful, though, whether
plaining the decisions include reproductive outcome before ge- communication of information about genetic disorders, how-
netic counseling, desire to have children, and interpretation of ever balanced, can ever be neutral or value free (Lippman &
the information gained from genetic counseling. Wilfond, 1992). Furthermore, there is evidence that counselors'
neutrality is itself interpreted by counselees in ways that influ-
Decision Difficulties ence their perceptions of the information provided: Genetic risk
perceptions were positively correlated with perceptions of the
A follow-up study on couples 2 to 3 years after genetic coun- counselor as neutral, probably because of the reasoning that
seling (Frets, Duivenvoorden, Verhage, Peters-Romeyn, & Nier- neutrality conceals bad news (Shiloh & Saxe, 1989).
meijer, 1991) showed that 43% had problems making reproduc-
tive decisions. The following variables were associated with Influences of Genetic Counseling on Decisions
problems in the decision-making process: no postcounseling re-
lief, anticipation of a high risk level, presence of an affected Some 26-57% of counselees reported having been influenced
child in the family, a decision against having children, and lack by the counseling (literature reviewed by Kessler, 1989). Those
of support from family members for the decision. The authors who reported having been influenced by genetic counseling
suggested a structured follow-up 3 to 6 months after genetic came to counseling with the expectation of getting information
counseling to identify couples that would benefit from addi- relevant to a reproductive decision; they discussed their decision
tional supportive counseling. extensively with their counselor and were more educated than
Most of the decisions associated with genetic counseling re- clients who said they were not influenced (Wertz & Sorenson,
volve around matters with which people have no experience, 1986). A consistent observation is the lack of correlation be-
and many feel are not for them to decide. These are major life tween counselees' reports of influence and actual changes in
decisions: having a child (or another child) considered at-risk their plans after counseling (Abramowsky, Godmilow, Hirsch-
for a genetic defect; marrying if there is a special risk factor horn, & Smith, 1980). Most studies show that genetic counsel-
involved, like in consanguinity; using donor insemination to ing does not produce dramatic changes in counselees' repro-
482 SHILOH

ductive behavior and that the best predictor of postcounseling quantification of their feelings and gambling on such issues hard
reproductive decisions are precounseling intentions (Sorenson, and disturbing. Other potentially useful counseling techniques
Scotch, Swazey, Wertz, & Heeren, 1987). Moreover, contrary were the balance sheet (Janis & Mann, 1977), used by Leonard
to some expectations, there was an increase in the number of and Beck-Black (1984) to raise and clarify counselees' consid-
clients initiating or intending pregnancies at 6-month follow- erations for and against specific options, and the structured
up, compared with those who intended pregnancies before imagination of alternative outcome scenarios, which was found
counseling (Sorenson etal., 1987). This increase may relate to helpful in reaching a decision, especially by women who had
findings that precounseling expectations of risk tend to be trouble discussing their emotions (Arnold & Winsor, 1984).
higher than the actual risk learned in genetic counseling (Sagi
et al., 1992; Shiloh & Saxe, 1989). Information about options Implications for Psychologists
of prenatal diagnosis not known before counseling may also in-
fluence planning in families with genetically affected children The psychosocial aspects of genetic counseling and genetic
(Evers-Kiebooms, Denayer, & Van den Berghe, 1990). Other technology have been of concern in genetic centers throughout
This article is intended solely for the personal use of the individual user and is not to be disseminated broadly.

effects of genetic counseling on counselees' decisions include the world. Multidisciplinary teams engaged in research and
This document is copyrighted by the American Psychological Association or one of its allied publishers.

changes in confidence in the decision made (Wertz, Sorenson, practice include physicians, genetic counselors, psychologists,
& Heeren, 1984) and in agreement on the decision between hus- social workers, and genetic nurses whose work together has
band and wife (Sorenson & Wertz, 1986). proved challenging and enriching (Evers-Kiebooms, Fryns,
Reproductive decisions made by couples after they receive Cassiman, & Van den Berghe, 1992). In the United States, the
genetic counseling correlate with the same social, familial, per- National Society of Genetic Counselors celebrated its 10th an-
sonal, and financial considerations as those used by the general niversary in 1989 with a membership of over 600 counselors,
population, and the information discussed in genetic counseling nurses, and social workers. As genetic knowledge increases, the
has only limited influence on their plans (Sorenson et al., need for trained genetic counselors expands, strengthening the
1987). According to Welshimer and Earp (1989), genetic infor- status of this new profession (Marks, 1989). To the best of my
mation interpreted in a personalized way, which is sometimes knowledge, there are no statistics on the number of psycholo-
biased to support previous intentions, is integrated into a pre- gists working in genetic clinics. Despite general agreement
viously held cognitive set of beliefs and attitudes regarding about the importance of psychological issues in genetic coun-
childbearing. These intriguing findings do not necessarily imply seling, the entry of psychologists into this highly professional,
that genetic information has no impact on counselees' deci- competitive, and rapidly developing field will not be easy. The
sions. There is evidence that genetic information affects coun- pace will depend in part on their efforts to adapt psychological
selees' decisions only indirectly through cognitive transforma- knowledge to the highly complex subject matter of medical ge-
tions. Postcounseling reproductive intentions, although unre- netics. Nevertheless, considering the rising needs, it is reason-
lated to the objective recurrence risks, were significantly able to assume that more and more psychologists will be en-
correlated with the subjective perceptions of these same risks gaged in the future in genetic centers and will have to address
(Shiloh & Saxe, 1989). the implications of genetic counseling in their general practice.
I delineate four roles in genetic counseling for psychologists:
Decisional Aids providing direct services to clients, training health care provid-
ers, consulting with genetic counselors, and researching genetic
Counseling techniques were designed to guide genetic coun- counseling. Among these, research and training are straightfor-
selors in their efforts to help counselees reach decisions more ward and readily accomplished, whereas direct services to cli-
effectively according to various theoretical criteria for an ents and consultations within genetic clinics, although greatly
effective decision-making process, without directly advising needed, may be problematic and require more time.
them on what to decide. One of the most ambitious techniques
used principles of prescriptive decision analysis to deal with the Providing Direct Services to Genetic Counselees
decision to use amniocentesis for prenatal diagnosis (Pauker
& Pauker, 1987). The model explicitly presented the possible Although genetic counseling will remain mainly the task of
outcomes of performing the test, and the counselees were asked medical professionals, who have the expertise to diagnose and
to choose between abortion and carrying a pregnancy to term analyze hereditary and health consequences of genetic disorders
without the benefit of amniocentesis, where the likelihood of an and risks, a psychologist on the genetic counseling team seems
affected child was varied in a structured sequence. Their atti- essential. Early in the counseling process, psychologists can as-
tudes were measured on a utility scale, which the counselor used sess individual differences among counselees in psychological
in a normative model to recommend the decision that would and familial status, traits, needs, expectations, and conceptions
give the couple the highest expected utility. A qualitative sum- of what is wrong, which may lead to more personalized coun-
mary of the experience using this technique with 849 genetic seling. When predictive testing for late-onset conditions is
counselees over a decade (Pauker & Pauker, 1987) reported that contemplated, persons at psychosocial risk who will need spe-
it enhanced communication between the counselor and couple cial counseling and support can be identified. Later in the pro-
and encouraged couples to confront their attitudes, clarify their cess, psychologists can intervene in crisis situations, provide
values regarding specific reproductive outcomes, and incorpo- family and supportive counseling, and help resolve personal and
rate them together with their current risks into a logical decision interpersonal problems raised by the genetic counseling. After
about prenatal diagnosis. Some counselees, however, found the educational phase of genetic counseling, psychologists can
GENETIC COUNSELING 483

help counselees (a) understand and personalize the newly justifications, empirical evidence, and practical advice on how
learned, often threatening, genetic information; (b) clarify their to handle crises, couple disagreement, communication diffi-
values; (c) make difficult decisions; and (d) develop and culties, emotional states, and counselees' demands and accusa-
strengthen coping resources to adjust to future outcomes. tions. They can provide support, help clarify counselor's values,
One model for genetic counseling has the genetic and psycho- and encourage open discussion of feelings and stresses by the
logical counselors meeting the couple together as a team genetic team.
(Antley et al., 1984). The psychologist helps create an accepting
atmosphere, regulates the pace of information flow, encourages Training Genetic Counselors
counselees' expressions of reactions to the information, checks
understanding, and repeats explanations. Not all professionals In 1988, there were only 12 master's degree programs for
agree these roles should be taken up by psychologists. Kessler training genetic counselors in the United States and Canada.
(1979) argued that the genetic counselor, not a psychologist, Most included theoretical and practical courses on interviewing
should undertake the role of psychotherapist, help reorganize and counseling and on psychosocial and ethical aspects of ge-
This article is intended solely for the personal use of the individual user and is not to be disseminated broadly.

personal strengths and resources, enhance coping, and provide netic counseling (Scott, Walker, Eunpu, & Djurdjinovic, 1988).
This document is copyrighted by the American Psychological Association or one of its allied publishers.

emotional support. Such a genetic counselor is uncommon, The rapid growth of genetic services is increasing the need for
however, because most see themselves as mainly information qualified psychologists to teach courses for genetic counselors,
givers, a role they explicate as nondirective counseling (Wertz & either in formal programs for new genetic counselors or in on-
Fletcher, 1988). the-job courses for active genetic counselors. A theoretical
Counselees' desire for psychological intervention as part of course on the psychological aspects of genetic counseling should
genetic counseling has not been studied, but many of the re- include, in addition to basic psychological information, a re-
searchers cited earlier indicated that most counselees inter- view of the issues related to genetic counseling, like those cov-
viewed in their studies were eager to discuss their difficulties ered in this article.
with a professional. Thus, having an option for psychological
help should be appreciated by many genetic counselees. How- Researching Psychological Aspects of
ever, any new psychological intervention in this field must be Genetic Counseling
accompanied by evaluation studies to determine its impact on
both counselees and professionals. Out of some 9,000 articles that appeared in the major genetic
and obstetric journals from 1985 to 1989, only 45 presented
empirical data from distinct studies dealing with psychological,
Consulting With Genetic Counseling Teams
social, and ethical issues of genetic counseling (Lippman,
Genetic counselors work under great pressure. In a cynical 1991). Most were descriptive studies of attitudes and reactions
article, Partington (1986) described genetic counselors as coun- of counselees to genetic counseling and prenatal diagnosis. Pro-
seling when they themselves are uncertain about the genetic spective, interdisciplinary studies are required to close the
outcomes, are required by the counselees to answer existential many gaps in knowledge about the impact of the new genetic
questions for which they are not prepared, and are frequently technologies. The Human Genome Project has devoted approx-
misunderstood by the counselees. Ultimately, despite best in- imately $3 million a year for the past 5 years to exploring the
tentions, they make unavoidable mistakes. legal, ethical, and social policy issues raised by the project. This
In addition to the serious psychological problems addressed declared goal of the Human Genome Project may accelerate
in this article, genetic counselors often have to discuss sensitive developments already occurring at a rapid pace. An increasing
issues with their counselees, like parenthood through donor in- number of social scientists are working in close contact with
semination, nonpaternity, and the obligation to inform other medical genetics units and developing ties that are producing
family members about a genetic risk and disclose information highly qualitative research. This trend justifies the current call
the counselee might want to hide even from close relatives. for psychosocial genetics as a distinct emerging scientific field
Counselors may experience serious moral dilemmas when they (Harper, 1993). This is a challenge for psychologists, who are
have to support counselees' decisions that run counter to their eminently qualified to conduct studies on human reactions and
personal values, like terminating a pregnancy for a reason the behavior related to genetic counseling. Psychological theory and
counselor feels is inappropriate; offering available options, such methodology and a balance between qualitative and quantita-
as a risky prenatal diagnosis, even when the problem seems in- tive approaches are essential. The few studies reviewed in this
significant; or relaying information on an insignificant finding article that applied psychological theories and methods—an-
discovered in genetic tests that may be misinterpreted by the chored in general, cognitive, clinical, social, and health psychol-
counselee and cause unnecessary alarm. One way to minimize ogy—may prove stimulating and helpful to clinicians as well as
these burdens is to lay down professional guidelines and regula- to those interested in the theoretical aspects of genetic
tions for specific dilemmas, practically an unachievable task counseling.
(Post, 1989). In the final analysis, genetic counselors must face Psychological researchers may find that genetic counseling is
these dilemmas and solve each specific case in accordance with not only an interesting research area per se, but also can provide
moral and professional standards. a real-life laboratory to test some of the issues examined by psy-
Psychologists in a consulting role can alleviate some of the chologists, including risk perception, decision making, interper-
genetic counselors' burden. They can help the counselor decide sonal communication, stress and coping, and family dynamics.
how to handle a particular case. They can provide theoretical When one considers the wealth of possibilities for practical
484 SHILOH

study of theoretical concepts, surprisingly little attention has duction and use of prenatal diagnosis. Clinical Genetics, 37, 207-
been given to genetic counseling in the psychological literature, 215.
even in health psychology, perhaps because most psychologists Evers-Kiebooms, G., Fryns, J. P., Cassiman, J. J., & Van den Berghe, H.
are not familiar with genetic counseling. It is hoped that this (1992). Preface. In G. Evers-Kiebooms, J. P. Fryns, J. J. Cassiman,
review will help familiarize psychologists with this potentially & H. Van den Berghe (Eds.), Psychological aspects of genetic counsel-
ing (pp. xv-xvi). New York: Wiley-Liss.
fruitful area.
Evers-Kiebooms, G., Swerts, A., Cassiman, J. J., & van den Berghe, H.
(1989). The motivation of at-risk individuals and their partners in
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