Principal Journal of Nursing Scholarship Genetic Testing, Genetic Information, and the Role of Maternal-Child Health Nurses in Israel

Genetic Testing, Genetic Information, and the Role of Maternal-Child Health Nurses in Israel

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Volume:
38
Ano:
2006
Idioma:
english
Páginas:
6
DOI:
10.1111/j.1547-5069.2006.00106.x
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Clinical Scholarship

Genetic Testing, Genetic Information, and the Role of
Maternal-Child Health Nurses in Israel
Sivia Barnoy, Dorit Appel, Chava Peretz, Hana Meiraz, Mally Ehrenfeld
Purpose: To examine the rate of genetic testing, the characteristics of those who had these
tests, and to examine the public’s openness to the possibility of expanding nurses’ roles in
maternal-child health (MCH) clinics to include providing genetic information.
Design: The study was conducted in nine MCH clinics in the central district of Israel. All
women attending the clinics during 1 week were requested to complete the questionnaire.
The sample consisted of 361 participants.
Findings: A high rate of genetic testing (80.4%) was shown. Higher education, being secular, and native-born Israeli predicted testing performance. Half of the tested participants
reported that they did not understand the test results and were interested in receiving explanations regarding these results. Forty-four percent of respondents were interested in
receiving genetic information from an MCH nurse.
Conclusions: A high rate of genetic testing performance was reported. The public reported
lack of information regarding genetic tests and their results. An appropriate setting for
providing this information is the maternal-child health clinics.
C 2006 SIGMA THETA TAU INTERNATIONAL.
JOURNAL OF NURSING SCHOLARSHIP, 2006; 38:3, 219-224. 

[Key words: maternal-child health (MCH) nurse, genetic information, genetic testing]
*

T

he postgenomic era has led to the possibility of identifying people at risk for genetic diseases. As a result,
many genetic tests are offered to the public, leading
to public interest in genetic information. The taking of these
tests is influenced by knowledge about genetic diseases (Henneman et al., 2001). Nurses provide information regarding
genetic disease risk, testing, and treatment (Greco, 2003),
and recommendations include that nurses advise their patients about genetic screening and its implications, and identify people w; ho have or are at risk of having a genetic disease (Lessick & Anderson, 2000). To incorporate genetics
into practice, nurses and nursing students require education
(Jenkins, Prows, Dimond, Monsen, & Williams, 2001) and
training in genetics (Jenkins et al., 2001; Lashley, 2000).
Patients need information to help them make informed
decisions. A study of 50 women awaiting abdominal surgery
in a community medical center showed that structured education by nurses increased care satisfaction (Lookinland &
Pool, 1998). When asked to describe quality care, patients in
waiting rooms of clinics responded that teaching by nurses
was a component of quality care (Oermann, 1999).

Background
In Israel, medical services are public and are provided
in the framework of the National Health Law which states

*

*
that medical services will be provided for all citizens (“Basket of Medical Services;” The National Health Insurance
Law, 1994). Community health services are traditionally divided into curative and preventive care, which are provided
by three large health maintenance organizations (HMOs).
The Maternal Child Health (MCH) Clinics, found throughout Israel, provide preventive care for pregnant women and
infants. These clinics have won international recognition
from the World Health Organization (WHO, 1978). Approximately 96% of infants receive preventive care at these
clinics, which charge a minimal service fee (Palti, Gofin, &
Adler, 2004). The main caregivers are public health nurses.
Their role is focused on pre- and postnatal care, which
includes growth and development follow-up, vaccinations,
health education, and health promotion programs. Because
MCH nurses come in contact with women at the time when

Sivia Barnoy, RN, PhD, Lecturer, Department of Nursing; Dorit Appel, RN,
MA, Teacher; Chava Peretz, PhD, Teacher, all at Department of Nursing,
School of Health Professions, Tel-Aviv University, Israel. Hana Meiraz, RN,
MA, Chief Nurse of Public Health Services, Public Health Services, Ministry
of Health, Jerusalem, Israel; Mally Ehrenfeld, RN, PhD, Senior Lecturer,
Department of Nursing, School of Health Professions, Tel-Aviv University,
Israel. Correspondence to Dr. Barnoy, Department of Nursing, School of
Health Professions, Tel-Aviv University, Israel. E-mail: sivia@post.tau.ac.il
Accepted for publication April 21, 2006.
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Genetics and the MCH Nurse

genetic testing is considered, a recent suggestion is that
nurses provide genetic information. An aim of the present
study was to examine the attitudes of women toward this
idea.
The “Basket of Medical Services” provided by the HMO
indicates which genetic tests are paid for by the state. These
include amniocentesis for women 35 years or older during the first trimester of pregnancy or when the risk for
Down syndrome exceeds 1:380, carrier detection for TaySachs for all Jews, and Thalassemia for high-risk groups.
The Triple Test (TT) costs about $10 (US). Amniocentesis,
nuchal translucency (NT), and carrier detection for recessive diseases are not included and can be undertaken privately for approximately $450, $150, and $100 per test,
respectively. Screening and carrier detection tests are frequently done before or during pregnancy, but other tests
are pregnancy-related. During prenatal visits, women are
referred for genetic testing. Nearly all are referred for tests
covered by the state or HMO, but no clear policy exists for
private tests, and referral depends on the physician or nurse
who performs the follow-up (nurses can refer women for Tay
Sachs and TT, recommend taking screening tests and NT and
refer to genetic clinics by criteria for amniocentesis). This variety shows lack of a clear policy regarding genetic testing,
and often women are given a choice of whether to take these
tests without adequate information (Sher, Roman-Zelekha,
Green, & Shohat, 2003).
The rate of genetic testing performance has increased.
Recently, 60.9% of women in Israel reported having had
the triple test, 50.8% of women over 35 years of age had
amniocentesis, 63.3% were tested for Tay-Sachs, and 24.3%
for fragile X. Higher income, having fewer children, and
being secular are factors that influence testing performance
(Sher et al., 2003).
Usually, normal test results are sent through the mail.
Triple test results are presented as the risk of having a baby
with Down syndrome. The referrer is informed when the
results show an elevated risk. For abnormal amniocentesis
results, the couple is called in for genetic counseling. When
a person is found to be a carrier of a genetic disease, the
partner is called in for testing. Genetic counseling takes place
only when both partners are carriers. This present situation
is confusing. Generally, lay people cannot fully comprehend
the implications of the results and thus require additional
information.
This confusion, together with the reported shortage of
genetic counselors (Emery & Hayflick, 2001) and the increasing number of genetic tests offered to the public, indicates nurses should become more involved in providing
genetic information. With relevant education, nurses can become proficient enough in genetics to qualify them to provide genetic information. Because MCH clinics are available
and accessible to all, MCH nurses can be immediate sources
of answers to questions, refer patients, and provide genetic
information.
The aim of the present study was to elucidate genetic
testing performance rates and how patients were referred
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Journal of Nursing Scholarship

for the tests, to identify the characteristics of those who undertook genetic testing and their perceived understanding
of testing reasons and results. The research goal was to assess whether the MCH clinics and nurses are perceived as
appropriate sources for providing genetic information. The
results may help in determining policy about nursing roles
in genetics and forming guidelines for referral for genetic
testing.

Methods
Sample
According to the Ministry of Health, Israel is geographically divided into six districts and 16 subdistricts. The country has 480 MCH clinics run by the Ministry of Health. In
the present study, a systematic sampling of one subdistrict
was carried out and seven clinics were sampled. After sampling, adjustments were made to include two additional clinics that serve subpopulations with respect to socioeconomic
level, religion, and immigration, as well as the location of
the clinics. These adjustments were made after consultation
with the head subdistrict nurse.
The sample consisted of 361 women who were seen
at MCH clinics in the central district of Israel (response
rate 60%). Respondents ranged in age from 22 to 50 years
(M=30.9, SD=4.67), with 96% married and 4% single
mothers. Respondents were primarily secular (60.3%), with
39.7% traditional or religious. Educational levels included
high school graduate (46.5%), BA degree (23.8%), and
higher (29.7%).
Work status varied as full time (48.5%), part time
(16.6%), or unemployed (33.4%). Most were nativeborn
(70%), and the rest were Russian immigrants (30%).
Instrument
A questionnaire was developed by the researchers to assess the need for genetic information and whether nurses
were perceived as capable of providing this information.
The items were selected to represent domains in the proposed role of MCH nurses in genetics. The items regarding
perceived understanding of genetic testing were selected after interviews with five women who received genetic testing.
The questionnaire was validated by 17 public health nurses
working in MCH clinics who commented on the relevance of
the questions. Because Russian immigrants constitute about
20% of the Israeli population, the questionnaire was also
translated into Russian by the method of Brislin (1980). A
pilot study with 52 participants who attended one clinic during a specific week was conducted, and the questionnaire
was modified according to respondents’ remarks. The questionnaire consisted of five items (Table 1) related to interest
in receiving genetic information. Response to each item was
on a 5-point scale, ranging from “Not at all” (1) to “To a
very large extent” (5). Reliability of the scale was α=.85.
Also included were questions about performance of genetic
testing during the last pregnancy, how participants were referred, and their perceived understanding of the tests.

Genetics and the MCH Nurse

Table 1. Extent of Interest in Genetic Information at the
MCH Clinics Among Participants Who Had Genetic Testing
(N=291)
Item

%

Interest in explanation of genetic testing results
Interest in genetic information in general at the MCH clinics
Interest in receiving information regarding genetic testing at the
MCH clinics (prior testing)
Interest in genetic counseling from an expert in the MCH clinics
Interest in receiving genetic information from nurses in the
MHC clinics

63.0
49.2
48.9
48.3
43.6

Procedure
Before the survey was conducted, one member of the
research team met with the head nurse of each clinic and
explained the survey and procedures. Questionnaires were
distributed by the head nurse to all patients fluent in Hebrew
or Russian and attending the clinics during the survey week.
All participants signed informed consent forms.

and being an immigrant were the main factors that influenced decisions to undergo genetic testing. Religiosity was
determined by a questionnaire item in which participants
were asked to rank religiosity level. For analysis we created
two groups: (a) secular and (b) religious and traditional.
Higher education (p=.001), native-born Israeli (p=.003)
and secular (p=.004) were related to higher rates of genetic
testing.
The characteristics were also analyzed for each test
separately (Table 2). Undergoing the Triple Test (TT) significantly correlated with age, education, and immigrant
vs. native-born status (p=.019, .04, and .0001, respectively), i.e., participants who were younger, more educated, and native-born were more inclined to be tested
for TT. Age and religiosity correlated to nuchal translucency (NT) testing, i.e., being young and secular were predictive of testing for NT (p=.004 and .05, respectively).
No correlation for Tay Sachs was found. Screening tests
were related to education and immigrant status, i.e., having higher education and being native-born (p=.000 and
.000 respectively). Older age and higher education were
predictive of undergoing amniocentesis (p=.000 and .001,
respectively).

Results
Receiving Genetic Testing
Of the respondents, 291 (80.4%) had at least one genetic
test during their last pregnancy. Genetic tests and frequency
of testing are shown in Figure 1. A high rate of genetic testing
was found for all tests. Most women were referred by their
physicians (67.8%), public health nurses referred 15.5%,
and 16.6% requested genetic testing themselves.
Characteristics of Participants Who Had Genetic Testing
A comparison of the characteristics of the women who
had genetic testing was carried out. Education, religiosity,

Perceived Understanding of Genetic Testing
Overall, 50.5% of participants who had genetic testing reported that the results were unclear. Participants were
asked to specify what was unclear. About 25% did not understand the meaning of test results and the implications
for immediate health status. Almost 20% reported that they
did not understand the future implications of the results, and
approximately 11% said the reason for testing was unclear.
The results are shown in Figure 2 (all items could be chosen
by each participant).

Figure 1. Percentage of participants who had each genetic test (N=361).
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Genetics and the MCH Nurse

Table 2.

Logistic Regression of Comparison Between Participants Who Had Genetic Testing by Each Test (n=291)
Triple test
OR a

Age<35
>35
Religiosity no
yes
Education 12y
12–15y
15y+
Immigrant yes
no

1
.38
.67
1
1
1.11
2.35
.21
1

95%CI b

Nuchal translucency
p

OR

1
.35
.56
1
1
.49–2.49 .80
.82
1.04–5.32 .04
.82
.09–.47 .000 1.00
1
.17–.85 .019
.34–1.32 .25

95%CI

p

.16–.72 .004
.30–1.03 .050

.42–2.0 .91
.54–2.18 1.08
.44–2.90 .981

Tay Sachs
OR
1
.65
.76
1
1
11.67
1.66
1.45
1

95%CI

Screening tests
p

OR

1
.85
.75
1
1
.83–3.37 .15 12.53
.90–3.06 .10 3.60
.69–3.05 .32
.26
1

.32–1.34 .25
.43–1.33 .33

Amniocentesis

95%CI

p

.40–1.83
.41–1.36

.69
.34

1.21–5.30
1.90–6.87
.11–.61

.014
.000
.002

OR
1
16.39
.55
1
1
2.26
3.72
.50
1

95%CI

p

6.41–41.91 .0000
.27–1.12 .10

.94–5.42
1.74–7.95
.22–127

.003
.001
.146

Note. a Odds ratio; b confidence interval.

Interest in Receiving Genetic Information at MCH Clinics
Of the respondents who had genetic testing, one-half
were interested in receiving genetic information at the clinics, and about two-thirds were interested in receiving explanations regarding test results. About one-half indicated they
would have been interested in receiving information about
genetic testing (before to testing) at the MCH clinics (see
Table 1).
Variables associated with interest in receiving genetic information at the clinics were analyzed. Religiosity was associated with more interest in receiving genetic information at
the clinics (p=.002). Religious respondents with higher education were more interested in explanations regarding the
test results (p=.05). Immigrants were more interested in receiving genetic information about genetic testing (p=.041).
Higher education and being religious were also correlated
with more interest in information regarding genetic testing
(p=.033).

Source of Genetic Information
Approximately 44% of respondents who had genetic
testing were interested in receiving genetic information from
the nurses at the clinics, and almost half reported they would
like to receive genetic counseling from an expert at the MCH
clinics (participants could answer both; Table 1). Being religious correlated with interest in receiving genetic information from nurses at the clinics (p=.05) and higher education
correlated with more interest in genetic counseling by an
expert (p=.011).

Discussion
Recently, the idea of qualifying some nurses who work
at MCH clinics as genetic experts has been suggested. The
present study was done to determine the rate of genetic
testing, the perceived need for genetic information, and the

Figure 2. Percentage of participants who did not understand aspects of genetic testing.
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Genetics and the MCH Nurse

readiness to receive this information at the clinics, and more
specifically, from the nurses.
In the present study, the rate of genetic testing was high
(80.4%). Israeli society has been described as one that is
characterized by rapid adoption of new technologies (Gross
& Ravitsky, 2003). A high number of nonrecommended
amniocentesis performances (i.e., for Down syndrome, risk
lower than 1:380) has been reported. According to geneticists, this rate could stem from social norms in Israel with
special emphasis on child health (Shoat et al., 2003).
Most women were referred for testing by physicians,
and MCH clinic nurses referred only a small proportion.
Nonreferral was the main reason for not performing TaySachs and fragile X screening (Sher et al., 2003), indicating
the need to raise the awareness of nurses in Israel about
the availability of genetic testing and of the importance of
referring women for testing. However, genetic testing is often
performed just because it is offered (Hartley et al., 1997).
Referral guidelines for genetic testing are needed.
The present study showed that native-born, secular
women with a higher education undertook more genetic testing than did other women. Other studies have shown that
personal characteristics, such as higher education and socioeconomic status, were predictive of genetic testing (Halliday, Lumley, & Watson, 1995; Khoshnood, Blondel, De
Vigan, & Breart, 2003). Higher education and socioeconomic status probably expose women to more health information, resulting in more concern about healthy behavior.
The influence of religiosity was not surprising, because
religiously observant women are less inclined to terminate
pregnancy. Together with the reports that in Israel the purpose of performing genetic testing is to identify abnormal fetuses and to avoid having a disabled child (Blumberg, 1994),
religious women in Israel would be expected to have less genetic testing (Sher et al., 2003). However, the present study
showed that these participants were interested in receiving
genetic information and explanation at the clinics. These
conflicting results may be explained by the possible higher
uncertainty experienced because of reduced genetic testing.
In some cases, knowledge can help reduce uncertainty (Armon, McPermont, & Schiffer, 1996). Another possibility is
that this group lacks informational resources and, therefore,
perceives MCH clinics as places to receive the relevant information without stigmatization.
Another important finding concerned new immigrants,
who had less testing. This group has not been considered
in previous studies. In the present study, immigrants from
Russia had less presymptomatic screening tests for fragile
X, cystic fibrosis, and Gausher’s disease, which cost about
$100 each. Their socioeconomic status likely affected their
decisions about testing or they may have been unaware of
the availability of the tests.
Lower performance of genetic testing by religious
women and new immigrants showed the importance of providing genetic information in an accessible environment.
Furthermore, the results indicated the need to identify other

vulnerable sectors that could benefit from genetic testing.
One sector is the Israeli-Arab population, characterized by
high rates of consanguinity, which is a risk factor for genetic diseases. These sectors (orthodox, new immigrants,
and Israeli-Arabs) are target groups for MCH clinic nurses
to provide genetic information. This focus is supported by
reports that minority populations have limited knowledge
about genetic testing and are interested in receiving this information. Minority populations are found in almost every
country and are known to be underserved by the health systems (Catz et al., 2005).
No significant correlations were found for Tay Sachs
testing. Because all pregnant women are referred for this test,
and all health professionals who carry out pregnancy followup are also aware of the test, nearly all pregnant women are
tested during their first pregnancy. This is a good example
for assimilation of genetic screening tests into the health
services that have led to the extermination of the disease in
Israel.
Older women were less inclined to have the triple test,
but were more likely to have amniocentesis, which is financed by the state for all pregnant women over age 35
years. This trend is probably based on the perception of most
people that the triple test is a screening test for Down syndrome only. These results show the need to educate women
about the importance of the triple test in detecting other fetal
conditions undetected by amniocentesis (e.g., ichthyosis).
Approximately one-half of the women who received
genetic testing reported that they did not understand the
results, and slightly less than one-half were interested in
receiving genetic information at the MCH clinics. This finding indicates a lack of genetic knowledge as perceived by the
women and to the need for an accessible source of information to fill this gap.
Although posed as a hypothetical service, 44% of respondents found the MCH clinic nurses to be the appropriate people to provide this information. This finding was
interpreted as an expression of trust and openness to the
idea of expanding the role of MCH nurses. Recently, the genetic nurse role has evolved worldwide, with different models (Anderson, Monsen, Prows, Tinley, & Jenkins, 2000;
Skirton, 1998). To date, a genetic nursing role has not
been adopted in Israel. However, one of the HMOs has introduced a new role for nurses in genetics. These nurses
are trained to advise the public about appropriate genetic
screening tests recommended according to ethnic origin.
These nurses provide information only about carrier detection tests before testing, so the public still remains without
a place to receive general information about other genetic
testing and results.

Conclusions
The present study showed a high rate of genetic testing,
but test results were misunderstood by half of the respondents. The characteristics of people that are more inclined
Journal of Nursing Scholarship

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Genetics and the MCH Nurse

to take genetic testing were identified. The findings indicate
target populations that need further attention and could benefit from genetic information. Interest in receiving genetic information at the MCH clinics was shown. We propose that
in Israel, MCH clinics can serve as an ideal environment to
provide this information.
This study included only Jewish women living in the
central district of Israel. Women living in the peripheries or
non-Jewish women might have different needs and expectations. We recommend that a national survey be conducted
on this issue.

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