Clin Genet 2001: 60: 323–330

Printed in Ireland. All rights reser6ed

Mini Review

Goals of genetic counseling

Biesecker BB. Goals of genetic counseling. BB Biesecker
Clin Genet 2001: 60: 323 – 330. © Munksgaard, 2001 National Human Genome Research
Institute, NIH, Bethesda, MD, USA
The goals of genetic counseling have differed over the past three
decades. Two schools of thought are prominent in reviewing past liter-
ature. One upholds the goal of preventing birth defects and genetic
disorders while the other promotes a goal of improved psychological
well-being in client adaptation to a genetic condition or risk. Both
types of goals emphasize that clients should make their own reproduc-
tive decisions; however, the former relies on clients making decisions Key words: genetic counseling – goals of
that will reduce the impact of genetic disorders. The differences in the counseling – review of genetic counseling
types of goals may be due to the training and orientation of genetics – specific aims of genetic counseling
health care providers, socio-cultural views, or priorities of health care
Corresponding author: B. Bowles
settings. Regardless, there are ample reasons to dismiss the prevention
Biesecker, MS, Associate Investigator,
of birth defects as a goal. This mini-review recommends use of genetic NHGRI/NIH, 10 Center Drive MSC 1852,
counseling sub-specialties as a framework for considering different Bldg 10, Room 10C101, Bethesda, MD
client needs and thus different counseling goals and specific aims in the 20897-1852, USA. Tel.: +1 301 4963979;
reproductive, pediatric/adult, and common disease settings. Given the fax: +1 301 4967157; e-mail:
extent of new genetic information, technologies, and the need to evalu- [email protected]
ate genetic counseling practice, genetics health care providers should
work toward arriving at consensus on the goals of genetic counseling, Received 24 August 2001, revised and ac-
and in doing so, the needs of clients should be considered. cepted for publication 27 August 2001

Over the past three decades, goals of genetic coun- treatment and prevention. Similarly, Hsia stated
seling have differed. One major goal clearly stated that the essence of genetic counseling was informa-
by some providers was to prevent birth defects and tive: that its aim was to convey relevant genetic
genetic disorders (1). Others have claimed the im- facts and reproductive options with the goal of
portance of helping genetic counseling clients cope enabling families to plan reproductive decisions
with and adapt to genetic information (2). Specifi- and to adjust realistically to, or cope better with
cally, Shiloh and colleagues summarized genetic their genetic problems (5). These preventive goals
counseling objectives as client ‘learning, under- were first asserted before the availability of prena-
standing, choosing and coping’ (3). This mini-re- tal diagnosis and so prevention was largely related
view outlines the written history of the goals of to client decisions about subsequently having af-
genetic counseling, explores their tensions and ar- fected children. Genetics health care providers
gues for a psychoeducational practice model based aimed to equip clients with appropriate informa-
on goals to promote client understanding and well- tion, believing that if they understood a scientific
being. More specifically, genetic counseling sub- explanation, they would use it to make rational or
specialties are presented as a framework for logical reproductive choices (i.e., ones that made
considering how a psychological goal translates
sense to providers). They were based on a good
into specific practice aims that can be researched.
deal of faith that the decisions providers thought
best would largely match the desires and values of
their clients.
The prevention of birth defects and genetic Into the 1980s, there continued support for the
disorders goal to prevent birth defects. Moser cited the pre-
In 1977, Lubs asserted the importance of identify- vention of the birth of genetically ill children as the
ing and counseling clients prior to the birth of an primary goal of genetic counseling, reinforcing the
affected child in order to maximize client options notion that this goal, whether implicit or explicit,
(4). He emphasized the importance of early referral remained in the minds of genetics providers (6).
of affected children to maximize opportunities for Reif and Baitsch in 1985 described an overall shift
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in the goals of genetic counseling from eugenics client will be realistic about his/her genetic circum-
toward preventive medicine (7). They noted gen- stances (16). He expressed concerns that pitting
eral support for an information model, one that intellect against emotion in the presentation of
emphasized client-informed decision-making. It genetic information might result in psychological
was their claim that there were minimal differences injury. He emphasized the importance of genetic
in the stated goals, but differences in how coun- counseling in addressing the client’s fears, hopes,
selors strived to reach them. How this shift was defenses, and rationalizations in order to help the
reflected in genetic counseling practice, however, client view the situation as it is, rather than as the
had not been studied. Even later, in 1986, Kelly client might hope that it is. In 1972, Hecht and
stated the purpose of genetic counseling as the Holmes reiterated the importance of the mental
maximal use of medical technology to reduce the health component in genetic counseling (17). Falek
incidence of genetic disorders, and hence, the also identified genetic counseling goals: to provide
financial impact on society (8). the family, in a personalized manner, information
The prevention of birth defects into the 1980s about recurrence risks with a long-term goal of
implied not only a goal of avoiding biological facilitating rational decision-making (15). These
pregnancies that risked being affected, but due to goals were accompanied by an acknowledgement
the availability of prenatal diagnosis, also implied of the emotional impact of these issues and the
facilitating client decisions to terminate pregnan- need for genetics health providers to ‘deal with
cies when the fetus is affected. The prevention of them’. Falek promoted a coping framework for
birth defects goals continued to persist in the liter- understanding the reactions of genetic counseling
ature, even though counselors’ experiences with clients. Kessler, in 1979, discussed the fine line
different client choices after prenatal diagnosis between past eugenic goals and those of prevention
highlighted the very personal nature of such deci- of birth defects in genetic counseling. He high-
sions (9). Further, individual clients and genetic lighted the discrepancies in whether the goals to
support groups representing families affected by prevent had a societal intent or were individual-
various genetic conditions vocalized that they were ized. He chose to describe the tasks rather than the
not necessarily interested in preventing the condi- goals of genetic counseling as communicating ge-
tion in their family (10 –12). Prevention of birth netic information, helping clients reach pertinent
defects and genetic conditions is generally trouble- decisions, and helping them cope with the informa-
some for ethical reasons, but it has also been tion and the consequences of the genetic disorder
acknowledged by geneticists as unattainable due to (18).
both the presence of new mutations in the popula- Emery claimed that by 1984 there had been an
tion and the largely unknown (and typically spo- evolution from what Kessler described as content-
radic) and therefore unalterable causes of most oriented to person-oriented genetic counseling (19).
birth defects (13). Coupled with more recent ad- He based his claim on the acknowledgement in the
vancements in the US disability rights movement literature that genetic information often has pro-
and emerging perspectives from various represen- found psychological effects, which may have long-
tatives of the disabled community, there are ample term consequences that can extend to relatives. He
arguments against a contemporary genetic disease asserted that a qualified genetic counselor had to
prevention goal for genetic counseling. The intent be aware of the client’s fears, hopes, defenses, and
of genetic counseling to advocate for the abortion rationalizations in order to help him/her deal with
of affected fetuses as an objective of genetic coun- his/her problems in a realistic manner. Many of the
seling is unjustified, yet has remained an implicit providers promoting psychological goals were
(and sometimes explicit) goal (14). trained in psychiatry or psychology and were well
aware that clients do not necessarily make logical
or rational choices (although they may be logical
Goals of client psychological well-being
to the client). They recognized that scientific expla-
Although it is tempting to this author to presume nations are only one way to understand risk, al-
that the goals associated with client psychological lowing for personal interpretation and meaning (2,
well-being (the second school of thought) paral- 20). Genetic science does not necessarily alleviate
leled the emergence of the profession of master’s guilt or anxiety in the client. In some cases, the
level genetic counselors, these goals actually ex- information itself may actually raise anxiety or
isted as early as the prevention goals (15). In 1956, reinforce feelings of guilt or responsibility. A psy-
Kallman emphasized the importance of psycholog- chological goal of genetic counseling aims to help
ical understanding in genetic counseling when he clients cope with such feelings and adapt to their
pointed out that a counselor cannot assume that a circumstances.
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 Goals of genetic counseling

Two parallel tracks of goals as secondary aims to the primary goal of client
decision-making. While this discussion worked to-
The preceding evidence from stated goals reveals
ward providing a consensus on the goals of genetic
that two parallel tracks had developed and infre-
counseling, it was not applicable for those cases
quently intersected in the literature. They were
when genetic counseling offers no choices or op-
bridged somewhat by the most often cited defini-
tions to clients. Also in 1979, in the Foreword to
tion of genetic counseling written by a subcommit-
Kessler’s textbook on genetic counseling, Epstein
tee of the American Society of Human Genetics reviewed early genetic counseling definitions, each
(ASHG): of which included a goal to prevent or reduce the
Genetic counseling is a communication process incidence of birth defects (25). The descriptions of
that deals with the human problems associated genetic counseling had expanded to include the
with the occurrence or risk of occurrence of a communication of genetic information and helping
genetic disorder in a family. This process in- the client to make a decision and were more often
volves an attempt by one or more appropriately silent on the issue of reducing birth defects. Dr
trained persons to help the individual or family Epstein commented on the notable switch in em-
to: (1) comprehend the medical facts including phasis to counseling; however, he went on to re-
the diagnosis, probable course of the disorder, mark that prevention of birth defects remained a
and the available management, (2) appreciate goal of genetic counseling in many instances.
the way heredity contributes to the disorder and
the risk of recurrence in specified relatives, (3)
understand the alternatives for dealing with the Non-directiveness as a principle not a goal
risk of recurrence, (4) choose a course of action Non-directiveness is a guiding principle for genetic
which seems to them appropriate in view of their counseling that promotes the autonomy or self-de-
risk, their family goals, and their ethical and termination and personal control of the client (26 –
religious standards and act in accordance with 28). The literature on non-directiveness at times
that decision, and (5) to make the best possible has confused it as a goal of genetic counseling (12).
adjustment to the disorder in an affected family It has also been considered as an intervention but
member and/or to the risk of recurrence of that rather, as Kessler noted, is best regarded as ‘a way
disorder. (21) of thinking about the relationship between client
The overt prevention focus was omitted and and counselor’ (29). The inconsistency in descrip-
attention to client adjustment included. This defini- tions of non-directiveness in the literature has
tion focused on a goal of effective communication made it challenging to assess its implications for
between a genetics health care provider and a achieving the goals of genetic counseling. This may
client. But as Kessler remarked in 1979, communi- have been made more difficult by the two different
cation is the means to practicing genetic counseling schools of thought on the goals. Undoubtedly,
rather than the goal. The ASHG definition non-directiveness is most relevant to reproductive
reflected negotiation and compromise among the genetic counseling and the personal nature of re-
differing perspectives of the genetic health care productive decisions. It may have little relevance to
providers who authored it, and although it omitted the goals of altering behaviors to promote health
reference to prevention, one could argue that it is in the context of predisposition to disease or to
implicit in its intent (22). As noted by Sorenson adapt to a genetic condition or risk. Even as a
and Culbert, it added complex and non-quan- guiding principle and not a goal, non-directiveness
tifiable elements to the goals of genetic counseling is thus of circumscribed importance to genetic
(23). It also neglected to acknowledge the impor- counseling.
tance of the counselor –client relationship.
By 1979, Antley had highlighted the emerging
Research into the goals of genetic counseling
conflict in counselor goals among proponents of
different counseling orientations, those who pro- Although there is not an abundance of research on
moted genetic disease prevention and those with genetic counselors’ pragmatic goals, what little
psychosocial goals in mind (24). In order to resolve there is provides valuable insight into their origins.
the growing disparity, he outlined the limitations Sorenson and Culbert in 1977 suggested that the
of the goals of client education or psychological orientation of the genetic counselor (his/her bal-
well-being and instead promoted the goal of facili- ance between psychosocial discussion and informa-
tated decision-making, citing the importance that tion provision) was determined by the goals the
both education and psychosocial counseling play counselor has in mind (23). They reported out-
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comes of a study ascertaining what topics coun- Central to the discussion of genetic counseling
selors discuss within genetic counseling sessions. goals are its outcomes, representing a way to oper-
They concluded that counselors most often want to ationalize the goals in order to assess whether or
discuss the familial impact of affected children, not they have been realized. Clarke and colleagues
alternative forms of parenthood, and notification in 1996 outlined the deficiencies of evaluating
of at-risk family members who may be carriers of genetic counseling outcomes in terms of client
an altered gene. The most common orientation, knowledge, reproductive plans, or reproductive be-
therefore, was one that identified education as pri- haviors (34). In contrast, they suggested that
marily important, and this majority of counselors genetic counseling should be evaluated by asking
endorsed goals consistent with a preventive clients questions about the process, such as short-
medicine goal. Their results suggested that the top- and long-term satisfaction and changes in expecta-
ics that the smaller proportion of psychologically tions. Michie and colleagues found that client and
oriented counselors preferred were the expecta- counselor expectations influenced their relationship
tions, values, and personal beliefs of the clients. as well as practice outcomes (35). Based on a small
These counselors wanted to let clients define the qualitative study of genetic counselors and their
end point of counseling themselves. For clients to clients, my colleagues and I found that counselors
do so, the genetic counselor could not adopt a view viewed meeting client expectations as the primary
of genetic counseling as preventive medicine. goal of genetic counseling. Paradoxically, clients
In 1988, Wertz and Fletcher reported survey often did not know what to expect. We recom-
results on the attitudes of an international sample mended new measures for evaluating genetic coun-
of 677 genetics health care providers (30). There seling that included more readily ascertained
was nearly 100% consensus on three of seven goals short-term outcomes: a client’s sense of being
presented to the respondents. These included: help- heard, encouraged, valued, supported, and at-
ing individuals/couples understand their options tended to. Long-term outcomes included improved
communication about genetic issues in the family,
and the present state of medical information so
anticipation of feelings or experiences stemming
that they can make informed decisions, helping
from future events, and clarifying values underly-
individuals/couples adjust to and cope with their
ing decisions or attitudes. Additional research is
genetic problems, and removing or lessening pa-
needed to assess such outcomes and their relation-
tient guilt or anxiety. The majority of respondents
ship to the goals of genetic counseling.
did not endorse goals to improve the health of the
population or reduce the incidence of carriers, con-
trary to the results of Sorenson and Culbert. Simi- A need for consensus on the goals
lar to the results of Sorenson and Culbert but in Identifying a unifying goal for all of genetic coun-
contrast to the results of Wertz and Fletcher, in seling may not be realistic or useful given the
1995, James and colleagues found that among a different reasons why clients seek services. But
sample of US genetic health care providers, the there should be consensus among providers within
goals of preventing disease or abnormality and the same country, at least, in order to standardize
improving the general health of the population practice, deliver clear messages to clients, and to
were still strongly supported (31). The majority of serve as guides in the education of genetic coun-
the 204 respondents supported an educational selors and in the evaluation of services. When
model of genetic counseling that encouraged assessing the need for consensus on the goals of
clients to make their own decisions, but also ap- genetic counseling, the socio-cultural context
parently trusted that clients would make preventive should be considered. Due to differences in health
decisions. care priorities and resources, countries may have
The goals of genetic counseling should ideally values and health care systems that support differ-
complement those of counseling clients, who are ent genetic counseling goals. Whether or not there
often unsure what genetic counseling has to offer should or can be worldwide consensus on the goals
or what they may gain (32). Only a few studies to of genetic counseling should be discussed
assess the goals of genetic counseling have included internationally.
the views of clients. Recently, studies have been The disparity in genetic counseling goals sug-
conducted ascertaining client expectations, desires, gests that the practice of genetic counseling varies,
and needs. Veach and colleagues reported that rendering it difficult to teach or evaluate (36).
clients named information gained and assistance While a chronological review of the goals lends
with decision-making as the most beneficial aspects some understanding to the evolution of genetic
of genetic counseling (33). counseling goals, it does not fully explain the dis-
326
 Goals of genetic counseling

cordance. Some of the discrepancy may be ex- feelings of loss of personal control, bereavement,
plained by differences in the training or orientation reduced self-esteem, social isolation, and stigma-
of genetic health care providers, the wide variety of tization. Support for these goals comes from re-
reasons clients seek genetic counseling and their search in behavioral medicine that has improved
disparate needs, as well as the socio-cultural con- understanding of the cognitive and affective as-
text of genetic counseling. Yet for three decades, pects of adaptation (40). Further, there is greater
little progress has been achieved in arriving at understanding of the complexities of human be-
goals to which the majority of genetic health care havior related to health, including some of the
providers can agree. With the tremendous explo- reasons why patients do not consistently adhere to
sion in genetic information and technologies that medical recommendations, the complex ways pa-
has occurred in the past decade, there is increased tients perceive genetic conditions, the ways patients
interest in solidifying the goals of genetic counsel- internalize and interpret uncertainty and risk, as
ing so that empirical data may be sought to evalu- well as the ways patients make decisions about
ate its effectiveness and the essential elements of pursuing health-enhancing lifestyle behaviors (41 –
the process (37 –39). This has practical importance 44).
in determining who is adequately trained to con- While an emphasis on genetic counseling goals
duct genetic counseling and in determining how of client psychological well-being is most likely to
providers effectively meet client needs. Further, be useful to clients, it is inherently inconsistent
whether or not the goals are consistent with those with a goal to reduce the incidence of genetic
of related medical genetics services such as carrier conditions in society. A goal that trusts clients to
screening programs or newborn screening is a use- make good decisions for themselves that are con-
ful distinction for practice guidelines as well as sistent with their own values and needs does not
research. (and should not) assume that the decisions will be
consistent with that of providers. Furthermore,
clients will not necessarily make thoughtfully con-
A psychoeducational paradigm for genetic
sidered decisions, be rational, or make choices that
counseling
reduce the burden of genetic disease on society.
Contemporary genetic counseling should strive to Yet, most clients are reasonable and will make
achieve the psychoeducational goals of genetic decisions (such as avoiding the birth of severely
counseling that emphasize assisting clients in their affected children) that are best for them and most
adaptation to genetic risk or a genetic condition. A likely as well for society. In contrast, a goal pro-
proposed contemporary definition supports such moting prevention ignores the needs and values of
goals: clients over a societal good and thus confuses the
counseling process. For example, a couple who has
Genetic counseling is a dynamic psychoeduca-
two children affected with cystic fibrosis and
tional process centered on genetic information.
chooses to undergo a subsequent pregnancy with-
Within a therapeutic relationship established be-
out testing, thereby accepting the 25% chance that
tween providers and clients, clients are helped to
a subsequent child will be affected, may represent a
personalize technical and probabilistic genetic
family that is emotionally, physically, and econom-
information, to promote self-determination and
ically prepared to care for another affected child.
to enhance their ability to adapt over time. The
They understand what the condition means for
goal is to facilitate clients’ ability to use genetic
their children and what it may mean for another.
information in a personally meaningful way that
Yet to a health care provider or medical adminis-
minimizes psychological distress and increases
trator, the decision to undergo a subsequent preg-
personal control. (38)
nancy may be viewed as illogical or irrational, one
The primary goals of genetic counseling within this that reasonable people would avoid altogether. Ge-
definition resemble those of other psychoeduca- netic counseling based on goals of psychological
tional counseling interactions: promoting under- well-being may accept this decision as a good one
standing, achieving informed consent, facilitating for the couple and may view the process that leads
decision-making, reducing psychological distress, them to this decision as valuable.
restoring feelings of personal control, and advanc- In order to promote the desirable goals of psy-
ing adaptation to stress-inducing events. Genetic chological well-being, the literature needs to ad-
health care providers should be trained to develop dress further what clients may gain from genetic
expertise not only in clinical and human molecular counseling. They may develop a deeper under-
genetics and reproductive options, but also in com- standing of the genetic condition or risk in the
passionate therapeutic counseling that addresses family, a feeling that someone cares about them, a
327
Biesecker

feeling that they are valued and not shunned dur- tive options currently available. The option of ter-
ing a time of emotional need, the knowledge that minating an affected fetus is not properly viewed
others have survived what they face and insight as prevention, but in nearly all cases a difficult
that they are likely to survive successfully as well, choice about a pregnancy. When preventive op-
and the reassurance that there are practical re- tions are available, such as the use of folic acid to
sources available, such as medical and educational reduce the chances for having a child affected with
services. Kessler emphasizes the importance of gen- a neural tube defect, or smoking cessation to re-
uinely helping clients to feel better about them- duce the chances for pregnancy loss or growth
selves, be efficacious in their decision-making, and retardation, then reproductive genetic counseling
understand better their actions and behaviors in shares its goals with that of general medicine and
order to gain perspective and cope more effectively nursing (47). The goal in such cases is to promote
(45). healthy births. As strides are made in the area of
The overarching psychoeducational goals can be primary prevention, this goal will apply more gen-
made more specific if they are discussed by sub- erally to reproductive genetic counseling without
specialty. Three genetic counseling sub-specialties implying that clients ought to terminate affected
are reproductive, pediatric/adult, and common fetuses in order to meet the goal. However, since
disease. In each of these areas, the specific aims there are likely to remain conditions that will not
(for the client and thus the health care provider) be preventable, extreme care will need to be taken
differ. to not to eliminate goals aimed at promoting client
psychological well-being.

Reproductive genetic counseling

Reproductive genetic counseling offers options to Pediatric/adult genetic counseling
clients related to testing (prenatal or carrier) and In the majority of cases/situations that present to a
child-bearing. The majority of clients are not pediatric or adult genetics clinic, few immediate
adapting to a genetic condition or birth defect in decisions face the client. Typically, a family mem-
their family but rather naively facing choices about ber is already affected with a condition and the
how to avoid having an affected child. The focus clients are seeking to understand the diagnosis,
of the counseling is often on client decision-mak- prognosis, and recurrence risks. Genetic counseling
ing, including accepting the consequences of the thus focuses on understanding, accepting, and
choice(s). The counseling process itself includes the adapting to a genetic diagnosis or risk (uncer-
client’s cognitive interpretation of the information tainty), and their impact on the individual and
(understanding) and her/his affective responses family. Taylor identified three central components
(feelings). The goal of reproducti6e genetic counsel- to adjusting to health-threatening information or
ing is to promote the client’s self-determination in events: 1) a search for understanding (including
exercising choices. It is achieved through discussion search for a cause); 2) a search for mastery; and 3)
of client values and beliefs incorporating how the the restoration of self-esteem (40). Clients often
client/couple personalizes the genetic information adapt successfully without the help of health care
in a way that is both useful and meaningful (46). providers, but seek assistance if it is offered. Pedi-
This goal of facilitated decision-making can thus atric/adult genetic counseling offers clients help
be achieved within a client-centered psychoeduca- with understanding the scientific cause of the ge-
tional approach and yet has distinct aims: netic condition and gaining feelings of mastery by
discussing resources and presenting future options.
1. To deliver personalized genetic information to In these ways genetic counseling can facilitate the
the client in a useful way. process of client adaptation. Future reproductive
2. To explore the meaning of the information with decisions may also hinge on the information and
the client in light of personal values and beliefs. its meaning for families so long-term decision-
3. To promote the client’s preferences for repro- making is important in this setting, although less
ductive options with consideration of alterna- urgently so than in the prenatal setting. The goal of
tives, consequences and barriers. pediatric/adult genetic counseling is to facilitate
4. To prepare the client for accepting the outcome client understanding and acceptance, both aspects of
of the choice(s). adaptation. It includes the following specific aims:
The rationale for this goal and its aims is based 1. To discuss client understanding of cause as it
on the uncertainty associated with the chances for relates to a scientific explanation and the
most birth defects to occur and the lack of preven- client’s interpretation.
328
 Goals of genetic counseling

2. To explore the role of client illusions (personal References

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