254 AWHONN Lifelines Volume 6 Issue 3

Relevant GeneticCulturally

Nurses Play aCritical Role inHelping Women& Families

Counseling

Suzanne Bassetti, RN, BS

cConsider the following case: An educated, Mus-

lim couple of high socioeconomic status was

referred to a genetic clinic because both of

their daughters were born with Down syn-

drome. The possibility that one or both parents

carried a translocated chromosome was dis-

cussed. Chromosomal studies of the family

were carried out. The results showed that the

husband’s karyotype was normal but his wife

indeed carried a translocated chromosome

associated with Down syndrome.

During a counseling session, the karyotype

results were discussed with the husband and

wife. In that session, they learned that based

on their genetic pool, they had a 15 percent

possibility of Down syndrome occurring

again in future offspring. They also

learned about prenatal diagnosis

options for any future offspring they

may conceive.

Several weeks later, the husband

returned to the clinic alone, asking

for a duplicate report of the chro-

mosomal report, and insisting

that the word “normal” be pub-

lished with his karyotype and that

the word “abnormal” be incorporat-

ed into the results of his wife’s kary-

otype report. Professionals at the

clinic declined his requests, and he

was asked to return with his wife for

June | July 2002 AWHONN Lifelines 255

another counseling session regarding the

implications of the genetic information. Later,

the staff at the clinic learned that upon receiv-

ing the initial karyotype reports, he began

harassing his wife and demanding permission

for a divorce or second marriage (Sharma,

Phadke, & Agarwal, 1992).

Advanced Practice Roles in Genetic Counseling

Scenarios such as the case of this couple are

becoming quite common as the availability and

use of genetic testing and counseling increases.

Genetic counseling attempts to help patients

and families understand genetic disorders and

the various issues that arise with families

affected by genetic disorders. Nurses help sup-

port families as they make decisions and learn

to cope with family members’ genetic disor-

ders. When nurses incorporate cross-cultural

and ethical awareness into their everyday prac-

tice settings, it encourages trust and under-

standing by patients, particularly in circum-

stances involving genetic counseling.

Genetic testing and counseling is expanding

practice for nurses as primary patient coun-

selors and advocates, particularly for advanced

practice nurses (APNs). Advanced practice

nurses have a unique role to play as part of a

genetics-wise health care team. APNs are

increasingly being relied upon to identify indi-

viduals who may benefit from genetic services

as well as coordinate referrals and follow-up

services for genetics-related health care servic-

es, particularly in the areas of

• prevention and management of genetic

diseases

• helping families at risk for genetic diseases

make decisions about childbearing

• screening for early detection to prevent

disability

• assisting parents in using specialized services

• health teaching

• monitoring and evaluating patients with

genetic diseases

With the increasing diversity of the

American population and the expansion of the

Human Genome Project, advanced practice

nurses must incorporate cross-cultural and

ethnic awareness into their everyday patient

care and counseling sessions. Nurses also need

to be aware of and abide by the ethical and

legal principles that help protect and provide

optimum care for patients.

Creating Awareness

Defining culture and ethnicity is difficult at

best because there’s not one clearly established

definition for either term, and the terms are

often used interchangeably. Ethnicity typically

pertains to a group’s sense of identification

surrounding common characteristics, such as

physical traits, religion, history and/or com-

mon ancestry (Baker, Schuette & Uhlmann,

1998). From genetics’ perspective, ethnicity is

considered in biological terms, which differen-

tiates groups based on their characteristic set of

allele frequencies (Baker et al., 1998), or how a

series or two or more different genes locates or

translocates on a specific chromosome. Domi-

nant traits or diseases are caused by inheriting

a single allele from a parent, recessive traits by

inheriting a relevant allele from both parents.

Culture is typically defined by a collection of

nonphysical traits such as values, beliefs, atti-

tudes and customs shared by a group of people

and families.

Genetic counseling differs from typical

health care counseling in that it typically incor-

porates the entire family into the process. This

is because genes are transmitted through fami-

lies and because certain conditions are revealed

through the family history; within families,

certain members may be affected by, at risk for

or caring for someone with a genetic condition

(Baker et al., 1998).

Often, advanced practice nurses are asked to

provide genetic information and counseling to

families at risk for genetic disorders to help

families make informed decisions about child-

bearing, genetic testing and health care man-

agement. Culture is often a critical variable in

how families seek, receive and act on genetic-

related information and counseling. As cultures

vary, so will family interpretations and values

associated with genetic information, which

affect a family’s perceptions of health risk and

illness.

To provide optimum care and counseling in

these instances, nurses must have a compre-

hensive understanding of multiculturalism and

Multiculturalism can

be complex and

requires a high

tolerance for

ambiguity, since

many perspectives

within and between

individuals must be

recognized and

appreciated

256 AWHONN Lifelines Volume 6 Issue 3

Suzanne Bassetti, RN,

BS, is a master’s-level

pediatric primary care

student at Columbia

University School of

Nursing in New York

how to incorporate multiculturalism into prac-

tice. Multiculturalism refers to an ability to

appreciate the values, beliefs and behavior of

cultures other than an individual’s own unique

culture. To be multicultural, nurses must look

at how their own individual values and beliefs

compare with those of other cultural groups,

particularly at the individual level.

Multiculturalism can be complex and

requires a high tolerance for ambiguity, since

many perspectives within and between individ-

uals must be recognized and appreciated (Bak-

er et al., 1998). Multiculturalism encompasses

an awareness of our own values and attitudes,

as well as an understanding of the values and

attitudes of those we encounter who are cul-

turally different. Because culture so strongly

shapes an individual’s belief and value systems,

it inevitably affects the way people view health

events and disorders such as reproduction,

childbearing, pregnancy termination, birth

defects, presymptomatic status and chronic

disease (Baker et al., 1998).

For example, some cultures encourage a

belief that the cause of illness is supernatural

and that the absence of symptoms means

health (Lea, Jenkins, & Francomano, 1998).

Some cultural groups believe that “higher

beings” or persons with supernatural powers

can cause birth defects. Researchers have dis-

covered that in some cultures, individuals

think that a family is “given” a child with a dis-

order as a punishment from God for parental

sin (Cohen, Fine, & Pergament, 1998). The

“evil eye,” a look or glance believed capable of

inflicting harm, is also a prevalent belief in

many cultures; an evil eye can cast bad fortune,

including birth defects, into some families or

on particular persons. Belief in an evil eye has

been documented among individuals of Mid-

dle Eastern, African American, European

American and Hispanic descent (Cohen, Fine,

& Pergament, 1998).

Certain foods have also been correlated

with health beliefs and/or outcomes. For exam-

ple, some cultures believe that during pregnan-

cy, eating the eyes that form on potatoes causes

spina bifida in the fetus and that eating chili

peppers during pregnancy can cause blindness

in the fetus (Cohen et al., 1998). Some Hispan-

ic women believe that certain moon phases can

affect pregnancy; a lunar eclipse is thought to

cause cleft lip or palate (Cohen et al., 1998).

Genetic Counseling

One particular counseling situation that arises

in genetic counseling is that of consanguinity,

which refers to kinship and blood relatives.

While typically rare in most Western popula-

tions, consanguinity is common in many of the

world’s populations, and immigrant popula-

tions will often maintain relatively high rates of

consanguinity (Jorde et al., 1999). When inquir-

ing about consanguinity, nurses need to ask

questions in a variety of ways (Baker et al., 1998):

• Are you and your partner related in any way?

• Are you and your partner blood relatives?

• Is there any chance that you and your part-

ner are related to one another other than by

marriage?

Additionally, questions about ethnic back-

ground should be asked in a way that’s clear to

the family, choosing words such as “country of

origin” or “family’s nationality” or “family’s

traditional religion” to ensure that those

answering the questions truly understand

what’s being asked (Baker et al., 1998).

It’s important for advanced practice nurses

to familiarize themselves with beliefs held by

some individuals from various cultural groups

to guide, facilitate and optimize counseling ses-

sions with these individuals. Nurses can best

provide culturally sensitive and appropriate

genetic information and health care when they

collaborate with family, cultural and religious

community leaders, genetic services and

patient-advocacy groups.

Ethical & Legal Concerns

There are many theories and principles of ethics

that define what it means to act “morally” and

that guide us with decision making. The

Institute of Medicine Committee on Assessing

Genetic Risks emphasizes four important ethi-

cal and legal principles (Andrews, Fullarton,

Holtzman, & Motulsky, 1994):

• Autonomy

• Confidentiality

• Privacy

• Equity

June | July 2002 AWHONN Lifelines 257

These principles assist nurses in the

ethical analysis of relevant questions

related to genetic testing (see Table 1).

Before genetic testing begins, nurses

need to discuss with the family the

validity of the diagnostic genetic test

being offered, and provide assurances

of informed choice and consent, priva-

cy and confidentiality of test results.

The assurance of informed consent is

extremely important. The basis of the

informed-consent process is “mutual

participation, respect, and shared deci-

sion making” (Jones, 2000). The focus

should be on communication between

the patient and the health care

provider so that what the patient

desires actually occurs. The patient

should come to understand, through

discussion, that there is a right to

accept or refuse genetic testing and

counseling.

Advanced practice nurses are often

the health care professionals who first

begin the discussion with a family

about an underlying genetic basis for a

condition or disease; what’s said and

how it’s said can have a significant

impact on a person or family’s ability

to process, understand and assimilate

such knowledge (Baker et al., 1998).

The challenge is to communicate

genetic information in a supportive,

culturally sensitive climate that

encourages individual autonomy in

decision making. Information about

the genetic condition or disease should

be presented fairly and evenhandedly

and not with the purpose of encourag-

ing a particular course of action.

Adherence to a nonprescriptive,

often referred to as a “nondirective,”

approach is a key dimension in genetic

counseling. Nurses must strive to be

nondirective to enable patients and

families to make decisions that best

suit their individual circumstances and

value systems. This may present a chal-

lenge to the APN, as families often

seek advice. In light of the need for

direction, APNs can empower families

to make their own decisions. APNs can

help facilitate this process by dis-

cussing the cultural beliefs, traditions

and family values that they view as an

important part of their identity.

In some settings, the APN may be

the primary source for counseling. At

other times, counseling may already

have been provided for the family by a

clinical geneticist and/or genetic coun-

selor. Because of a previous relation-

ship with the family, however, a nurse

may be called on to review informa-

tion and to assist in helping with the

decision-making process.

ReferencesunselingAndrews, L., Fullarton, J., Holtzman, M., &

Motulsky, A. (Eds.). (1994). Assessing

genetic risks: Implications for health

and social policy. Washington, DC:

National Academy Press.

Baker, D., Schuette, J., & Uhlmann, W.

(Eds.). (1998). A guide to genetic

counseling. New York: Wiley-Liss.

Cohen, L. H., Fine, B. A., & Pergament,

E. (1998). The assessment of eth-

nocultural beliefs regarding the

causes of birth defects and genetic

disorders. Journal of Genetic

Counseling, 7(1), 15-29.

Jones, S. (2000). Reproductive genetic

technologies. AWHONN Lifelines,

4(5), 33-36.

Jorde, L., Carey, J., Bamshad, M., & White,

R. (1999). Medical genetics (2nd

ed.). St. Louis, MO: C. V. Mosby.

Lea, D. H., Jenkins, J. F., & Francomano,

C. A. (1998). Genetics in clinical

practice: New directions for nursing

and health care. Sudbury, MA:

Jones & Bartlett.

Sharma, A., Phadke, S., & Agarwal, S. S.

(1992). Sociocultural and ethical

dilemmas of genetic counseling: A

suggested working approach. Journal

of Medical Genetics, 29, 81-82.

Table 1:Guiding Principles in Genetic Counseling

• Respect for autonomy: An obligation to respect, and not to inter-fere with, the self-determined choices and actions of autonomousindividuals

• Non-maleficense: An obligation to never deliberately harm another

• Justice (Equity): An obligation to be fair in the distribution ofsocial goods such as health care or in respecting people’s rights orlaws

• Fidelity: An obligation to keep promises, contracts and other agree-ments

• Confidentiality: An obligation to protect and not to disclose person-al information provided in confidence by another

• Privacy: The right to control one’s own body, thoughts and actions

• Respect for people: An obligation to respect the capacities and dif-ferences in human beings and to act accordingly

Source: Adapted with permission from Lea, Jenkins, and Francomano (1998,p. 224).