what predicts the use of genetic counseling services after the birth of a child with down syndrome?

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Journal of Genetic Counseling [jgc] ph169-jogc-456390 November 23, 2002 8:14 Style file version June 4th, 2002

Journal of Genetic Counseling, Vol. 12, No. 1, February 2003 (C© 2003)

What Predicts the Use of Genetic CounselingServices After the Birth of a Child With DownSyndrome?

Veronica Collins,1,2 Jane Halliday,1 and Robert Williamson1

In the state of Victoria, Australia, a government funded genetic counseling serviceexists to meet the needs of families. An audit showed that many families do not usethis service after the birth of a child with a genetic problem. To investigate this wesurveyed families of children born with Down syndrome over 2 years in Victoria.Questionnaires were completed by 74 mothers, of whom only 18 had receivedgenetic counseling between the birth and the time of the study (mean 3.5 years).Of those not receiving genetic counseling, 71% said they were not offered or hadnot heard of it. Mothers who had genetic counseling were younger than thosewho had not, and were more likely to have attended University. Those who hadgenetic counseling indicated less “satisfaction with care at the diagnosis” andwere more likely to perceive their child as “unwell at birth” than those who wereaware of genetic counseling but did not have it. Of those who did not have geneticcounseling, over half were unclear about what it is, although 74% agreed withthe statement “genetic counseling is most useful when planning to have anotherchild.” Of those who had heard of genetic counseling, 73% said they were not surehow it could help. Many families with children with Down syndrome are not awareof the existence or functions of genetic counseling. With greater awareness, somemay still choose not to have genetic counseling, but others enunciated needs thatcould be met by this service if it were offered to them.

KEY WORDS: genetic counseling; genetic services; Down syndrome.

1The Murdoch Childrens Research Institute, Parkville, Victoria, Australia.2Correspondence should be directed to Veronica Collins, The Murdoch Childrens Research Institute,Royal Children’s Hospital, Parkville, 3052, Australia; e-mail: [email protected].

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1059-7700/03/0200-0043/1C© 2003 National Society of Genetic Counselors, Inc.

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44 Collins, Halliday, and Williamson

INTRODUCTION

An important function of genetic counseling is to assist parents who have hada child with a genetic disorder to deal with the implications of the diagnosis forthe child, the family and future children, and for parental concerns to be addressed(Fraser, 1974; Harper, 1998; Kelly, 1986). Since 1988, in the state of Victoria,Australia, a government funded genetic counseling service has been available.All parents with a child with a genetic disorder are eligible to receive geneticcounseling but an audit of the use of the service in 1993 showed that only about50% of parents of babies born with a serious birth defect used the service within3 years of the birth (Hallidayet al., 1997).

The reasons for such a high proportion of families not having genetic coun-seling are not clear. The Victorian audit showed that older women were more likelyto use the service than younger and the presence of the service in the hospital ofbirth predicted uptake (Hallidayet al., 1997). A small interview-based study inthe Netherlands compared data on couples who sought, or did not seek, geneticcounseling after the birth of baby with a congenital anomaly (Hobuset al., 1995).Two major predictors of seeking genetic counseling were identified—whether thecouples had been informed correctly about the availability of genetic counseling,and whether, shortly after the birth, the parents considered genetic counselingmight be useful in their particular case (Hobuset al., 1995).

A conceptual framework for understanding reasons for uptake of health ser-vices that has been used in a variety of health settings is the Health Belief Model(HBM) (Janz and Becker, 1984). The model describes four domains that are likelyto be predictive of whether an individual will undertake a health behavior: (1) per-ceived susceptibility to the health condition; (2) perceived severity of the healthcondition; (3) perceived benefits of the health behavior; and (4) perceived barri-ers to taking up the health behavior. The model predicts that greater perceivedseverity and susceptibility provide the impetus to perform the health behaviorand the balance between perceived benefits and barriers will ultimately determinewhether the action is undertaken. Sociodemographic variables and cues to actionwill modify the effect of the domains of the HBM (Janz and Becker, 1984). Cuesto action can be either internal (e.g. symptoms) or external (e.g. referral from ahealth professional) (see Fig. 1).

The HBM has not been used explicitly in studies assessing the uptake of ge-netic counseling but findings from studies of genetic screening programs might beuseful to consider. The uptake of carrier testing for cystic fibrosis (CF)(Decruyenaereet al., 1998; Fanget al., 1997), community carrier screening forTay-Sachs disease (Beckeret al., 1975), prenatal screening for hemoglobinopathies(Rowleyet al., 1991) and prenatal diagnosis for cleft lip/palate (Sagiet al., 1992)have been assessed in light of the HBM. These studies have generally validated theHBM by demonstrating associations between the HBM domains and intentions

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Genetic Counseling After the Birth of a Child With Down Syndrome 45

Fig. 1. Health Belief Model adapted from Health Behavior and Health Education: Theory, Research,and Practice (2nd edn. Edited by Karen Glanz, Frances Marcus Lewis, and Barbara K. Rimer. Copyrightc© 1997 by Jossey-Bass Inc. Reprinted by permission of John Wiley & Sons, Inc.

to utilize, or actual utilization of, genetic screening. The domains differed inimportance, depending on the way they were measured and the characteristicsof the program under study. For CF carrier testing the lack of barriers was foundto be the most important predictor of the high uptake of the test (Fanget al., 1997)while perceived benefits of a diagnosis were most important in the intention toutilize prenatal diagnosis for clefting (Sagiet al., 1992).

Down syndrome has the highest birth prevalence of any chromosomal ab-normality; in Victoria the total prevalence for the period 1995–1998 was 20.8 per10,000 (Riley and Halliday, 2000). There is no routine referral for genetic coun-seling for Down syndrome in Victoria. Access to genetic counseling depends onwhether the pediatrician or other doctor involved with the family makes a referral,and/or whether the family is motivated to seek out genetic counseling if they knowthey are eligible to have it. In the Victorian experience, we believe that less than20% of families with babies with Down syndrome have formal genetic counselingafter the birth.

We have conducted a pilot interview study with parents of children with Downsyndrome or cystic fibrosis (Collinset al., 2001). The main reason given for nothaving genetic counseling, was parents’ lack of knowledge of the existence ofthe service or of their eligibility to attend. Some mothers of children with Downsyndrome thought it might have been useful to have genetic counseling, had it

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been offered to them, while others did not think it was necessary. Parents’ needfor information and support after the diagnosis was very clear from the interviewsbut it did not necessarily translate to a desire for genetic counseling (Collinset al.,2001). When results of this study are interpreted in terms of the HBM, the ratherhaphazard nature of referral to genetic counseling for Down syndrome could beseen as a barrier to uptake, and a lack of knowledge of the existence or purpose ofgenetic counseling is likely to act as a barrier and impact on the perceived benefitsof genetic counseling.

The number of participants in this pilot interview study was small and theirviews did not necessarily represent those of all parents of children with Downsyndrome. Therefore, we were interested in investigating this question in a larger,population-based sample of parents with children with Down syndrome. The aim ofthe present study was to assess the level of use of the genetic counseling service andto examine factors associated with having genetic counseling, in a representativesample of parents of children with Down syndrome in the state of Victoria.

METHODS

This was a questionnaire study following from an earlier interview study(Collins et al., 2001). Ethics approval for the study was granted by the RoyalChildren’s Hospital Human Research Ethics Committee.

The Victorian Birth Defects Register

All children born alive in 1995 or 1996 with Down syndrome were identi-fied from the Victorian Birth Defects Register (BDR). The BDR is a statewide,population-based surveillance system held at the Perinatal Data Collection Unit atthe Department of Human Services. It has collected data from multiple sources onall birth defects for livebirths, stillbirths, and terminations of pregnancy since 1982(Riley and Halliday, 2000). For each case on the BDR, all known diagnosed condi-tions are coded using the British Paediatric Association Classification of Diseases(compatible with ICD 9). Validation studies have shown that a high proportionof pregnancies and births diagnosed with birth defects are notified to the BDR,particularly those due to chromosomal abnormalities (Kilkennyet al., 1995).

Genetic Counseling Services

In the state of Victoria, Australia, a government funded statewide geneticcounseling service is provided by Genetic Health Services Victoria (at the timeof the study it was called the Victorian Clinical Genetics Services (VCGS)). The

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central clinic of Genetic Health Services (formerly VCGS) is located at the RoyalChildren’s Hospital in Melbourne. Other genetics clinics are located at other majormaternity hospitals and in regional centers around the state. Genetic counseling isconducted by medical geneticists and/or by trained nonmedical genetic counselors,depending on the nature of the referral and who is available to see the patient atthe time of the appointment.

Assessing Use of Genetic Counseling

The names of the mothers of the babies identified on the BDR were checkedagainst the VCGS genetic counseling records. For those found to have had geneticcounseling, permission was sought from the relevant medical geneticist to contactthe family to invite them to participate in the study. The majority of the families inthe study had received genetic counseling either from a medical geneticist alone ora genetic counselor with a medical geneticist. For those who had not had geneticcounseling from the VCGS, the following protocol was used. The BDR has arecord of the person who reported the birth to the registry. In some cases this wasthe doctor involved with the birth, in which case permission to contact the familywas requested from this doctor. If the notifier to the BDR was someone other thanthe doctor directly involved, this person (e.g. midwife, laboratory scientist) wascontacted to find the name of the doctor involved with the birth, who was in turncontacted for permission to write to the family.

Questionnaires were administered between 1998 and 2000 allowing 3–4 yearsfor families to have attended genetic counseling after the birth (mean follow-up=3.5 (range 2.1–4.0) years from birth). A letter inviting parents to participate wassent along with an information sheet, a questionnaire, and a reply-paid envelope. Ifthere was no response within a month, a reminder letter was sent, and if there wasstill no response a follow-up phone call was made (if phone number was known).All questionnaires were completed by mothers and in two cases fathers also hadinput to the responses.

Questionnaire Design

Data from the interviews (Collinset al., 2001) informed the design of the ques-tionnaire. It included general questions about the time of diagnosis; perceptionsregarding the health of the child; involvement with support services; satisfactionwith “care” and “information” received at the diagnosis; subsequent pregnanciesand family planning decisions and whether the participant had ever had geneticcounseling. For those who had experienced genetic counseling, questions regard-ing details of the genetic counseling session, referral for genetic counseling, andreasons for having genetic counseling were included. For those who had not had

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genetic counseling, questions regarding perceptions of what genetic counseling isand the reasons for not having genetic counseling were included.

Data from pilot interviews were used to design a series of 20 items relatingto the HBM and the responses were given on 5-point likert scales ranging fromstrongly agree to strongly disagree. The complete items are given in the Appendixbut abbreviated for Table V. Five items presented possible benefits and nine itemspossible barriers to uptake of genetic counseling. Three items related to perceivedseverity of having a child with Down syndrome and three items to susceptibilityto having another child with Down syndrome. Exploratory factor analysis of theHBM items and low reliability scores of the items making up the individual HBMdomains indicated that the items should be considered separately rather than asrelated items making up the four domains. The data have been presented as 20 sep-arate items in the table under the headings of the HBM domains they were designedto measure.

Data Analysis

Data were entered into an SPSS database (V10.0) and all analyses were doneusing SPSS. The statistical significance of differences between means was assessedusingt tests for pairwise comparisons and one-way ANOVA for differences acrossthree groups. Statistical significance of differences in proportions was assessedusingχ2 tests, or in cases where an expected cell frequency was less than 5, usingFisher’s exact tests.

Power calculations were done for comparisons of proportions between groupsdefined by genetic counseling status. Power analysis based on estimates from thevariability of the data found we had power to detect only large differences betweengroups as statistically significant. For example, if the genetic counseling group hada response of 30% then the smallest difference that would be detectable with 80%power would be a response of 76% in the aware group (i.e. a 46% difference, basedon a two-tailed significance level of 0.05). For comparisons between the counseledgroup (n = 18) and all those who did not have genetic counseling (n = 56), asomewhat smaller difference could be found.

RESULTS

From 1995 to 1996, the live births of 123 babies with Down syndrome were re-ported to the BDR. Comparison of the BDR data with genetic counseling recordsdetermined that 20% (n = 25) of families of the 123 babies born alive duringthis time received genetic counseling. The proportion of mothers eligible and ap-proached to participate in the study was higher among the group who had receivedgenetic counseling (21 out of 25, 84%) than for those who had not been seen

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by the VCGS (66 out of 98, 67%). The main reason for not being eligible to beapproached was that the mother could not be found, either because the appropriatedoctor could not be identified or the address was unknown (n = 19). In addition,five women were known to have moved interstate; the relevant doctor did not givepermission to contact six families where the baby was known to have died andanother six families for unspecified reasons, leaving 87 eligible to be approached.Of these 87, 74 women responded, giving an overall response rate of 85%.

Of all mothers giving birth to a child with Down syndrome during 1995–1996,the ineligible and nonresponder groups combined were slightly younger (71% aged34 years or younger at the time of the birth) than those who participated in thestudy (66% aged 34 years or younger), but this difference was not statisticallysignificant (p = 0.11). With respect to the time of diagnosis, only two respondersindicated that their child was diagnosed with Down syndrome prenatally and therest were diagnosed either at the time of birth (50%) or between 1 and 16 weeksafter the birth (47%).

Of the 21 mothers approached who had received genetic counseling, 18 com-pleted the questionnaire—a response rate of 86%. For women not receiving geneticcounseling 56 of the 66 mothers approached completed the questionnaire (85%response). Of the 56 women who did not have genetic counseling, 16 (22% of totalgroup) said they were aware of genetic counseling, to a greater or lesser degree,and 40 (54%) reported that they had not been offered or told about genetic counsel-ing. For the purposes of data analysis, the study participants were categorized intothese three groups: (1) those mothers who received genetic counseling (n = 18),(2) those who were “aware” of genetic counseling (n = 16), and (3) those whowere “not aware” of the existence of genetic counseling (n = 40).

Although it was not a specific question on the questionnaire, the time betweenthe birth and the genetic counseling session was known for 11 of the 18 familieswho received genetic counseling. The time ranged from 6 weeks to 2 years butmost commonly was around 2–3 months after the birth.

Demographic characteristics of the families, according to genetic counselingstatus, are shown in Table I. There were demographic differences found between thethree groups. Although there was not a statistically significant mean age differencebetween groups (p = 0.07, one-way ANOVA), mothers who were counseled weremore likely to be<35 years of age at the time of birth (89%) compared to 69% ofthose who were aware and 55% of those who were not aware of genetic counseling(χ2 = 6.4, df= 2, p = 0.04).

The group who had genetic counseling included a higher proportion of moth-ers who were employed outside the home and with postsecondary school educa-tion. About 35% of the genetic counseling group indicated they had no religioncompared with 13% of the “aware” group and 25% of the “not aware” group.Almost half of the “not aware” group identified themselves as Roman Catholicor of Orthodox religion compared with 20% of the “aware group” and 24% of

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Table I. Demographic Information for Participants

No genetic counselingGenetic

Counseling status counseling Aware Not aware

Number 18 16 40Mothers’ mean age (years) at birth (range) 30.4 (19–41) 34.4 (28–43) 33.9 (19–44)Proportion of mothers younger 89 69 55

than 35 years at birth (%)Education level

Secondary only (%) 45 63 62Some tertiary (%) 22 6 25University graduate (%) 33 31 13

OccupationEmployed (%) 44 19 35Home-maker (%) 50 75 65Student (%) 6 — —Other (%) 6 —

ReligionCatholic/Orthodox (%) 24 20 49Christian, other (%) 35 60 21Non-Christian (%) 6 7 5None (%) 35 13 25

Mean age (years) of child at time 3.4 (2.8–4.1) 3.3 (2.1–4.0) 3.6 (2.8–4.3)of study (range)

Had a subsequent pregnancyProportion (%) 61 25 35Numbern 11 4 14

Had prenatal counseling for 64 25 0subsequent pregnancy (% of thosewho had a pregnancy)

Had prenatal diagnosis in 82 100 86subsequent pregnancy (%)

those who had seen a genetic counselor. However, the extent to which religioninfluenced their lives was not ascertained. Sixty-one percent of the women in the“genetic counseling” group had a pregnancy subsequent to the birth of the childwith Down syndrome, compared with 25% of the “aware” group and 36% of the“not aware” group. Most women had prenatal testing in the next pregnancy andthis proportion did not differ significantly according to whether they had receivedgenetic counseling or not.

Perception of health of their baby with Down syndrome was also found todiffer by group (Table II). Over half of the mothers who had genetic counselingthought their child was “unwell” at birth, compared with around a quarter of thosewho were aware of genetic counseling but did not have it, and 41% of thosewho were not aware of genetic counseling. Although this variable was measuringparental perceptions of health, it showed associations with the actual number ofbirth conditions recorded on the BDR. Around 60% of the children perceived byparents to be “unwell at birth” had at least one other condition coded, in additionto trisomy 21. In comparison, only 23% of those perceived to be “well at birth”

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Table II. Perceptions of Health of the Child at the Time of Birth

No genetic counseling

Genetic counseling Aware Not aware(n = 18) (n = 16) (n = 40)

Unwell (%) 55.6 26.6 41.1Average (%) 11.1 20.0 17.9Well (%) 33.4 53.4 41.0

had at least one other condition in addition to trisomy 21. The majority of the othercoded conditions were heart anomalies. Fifty-five percent of the children whoseparents had genetic counseling had at least one other condition coded on the BDRcompared with 38% of the children of parents that did not have genetic counseling.

Figure 2 shows satisfaction with care at the time of the diagnosis, indicated bya 5-point Likert scale measure, with a higher score indicating more satisfaction. Themeaning of “care” was not specifically defined, but comments from mothers forthis question suggested they were referring to the way the diagnosis was given andthe support offered by health professionals. The following comment is an examplefrom one mother who was unsatisfied with the care she was given: “Immediatesupport and counseling was non-existent. Doctors and staff not knowing or givingany appropriate support. Also doctor not informing us and being up-front.” Thefollowing comment was from a mother who was satisfied with the care: “Nurseswere very supportive and general care given in hospital was excellent.” About 30%of the counseled group were “very satisfied” with the care they received, while 80%of those who were aware but did not have genetic counseling, were “very satisfied”(p = 0.01). Satisfaction with care in the “unaware” group was not significantlydifferent to the group who had genetic counseling. Open comments of those who

Fig. 2. Satisfaction with “care” at the time of diagnosis.

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Fig. 3. Satisfaction with “information” at the time of diagnosis

were not satisfied with the care received, related to feeling unsupported and a lackof sensitivity being shown by medical staff.

Satisfaction with the information received at the diagnosis did not appearto be associated with use of genetic counseling (Fig. 3). The proportion choosing“very satisfied” was similar across groups. Comments from those not satisfied withthe information received related to a lack of information and, less commonly, thenegative nature of the information.

The noncounseled group was asked to respond to a series of statements in-dicating their level of agreement with each statement on a 5-point Likert scale(1= strongly disagree to 5= strongly agree). For most statements, the responsesgiven by those who were aware of genetic counseling were similar to those whowere not aware of genetic counseling (Table III). Some differences between groupswere evident for the final two statements where those who were not aware ofgenetic counseling were more likely to agree with the statements but these dif-ferences were not statistically significant, probably because the sample size wastoo small to detect a difference of this size. Overall, about half reported that theyhad very little idea of what genetic counseling is, but at the same time nearlythree quarters thought it was most useful when thinking about having anotherchild.

Participants who were “aware” were asked to respond to a series of possiblereasons for not having genetic counseling (Table IV). Responses were given on a5-point Likert scale (1= not at all relevant to 5= very relevant). The proportionschoosing 4 or 5 on the scale for each statement are given in the Table. Seventy-three percent of the aware group endorsed the statement “not sure how geneticcounseling could help.” When asked to say in their own words why they did nothave genetic counseling, the most common response among the “aware” groupwas that they were not going to have more children and genetic counseling is most

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Table III. Ideas About What Genetic Counseling Is for Those Who Did Not Have Genetic Counseling(% Agree or Strongly Agree)

Aware of genetic counseling?

Statement about genetic counseling Yes (n = 16) No (n = 40)

I have very little or no idea of what genetic counseling is 50.0 57.9Genetic counseling is only to talk about facts and information 37.5 33.3The main purpose of genetic counseling is to discuss emotions

and feelings12.5 17.9

Genetic counseling is mainly to talk about pregnancytermination

6.3 10.5

Genetic counseling is most useful when planning to haveanother child

75.0 73.7

Many different things can be discussed at a genetic counselingsession

68.8 65.8

Genetic counseling is to find out about medical care for mychild

12.5 23.1

Genetic counseling is to find out about education for my child 6.3 18.4

useful for prenatal advice or discussion (40%). Another response was that theythought they did not need genetic counseling (20%).

Table V shows responses to items designed to measure the four domains ofthe HBM (see Appendix for full wording of items). For simplicity of presentation,the two groups that did not have genetic counseling were analyzed as one, as theresponses for the “aware” group were similar to those of the “not aware” group.The severity and susceptibility items did not differ significantly between groupsalthough there was a tendency for concern about what may go wrong in futurepregnancies to be more relevant for those who received genetic counseling (notstatistically significant). For three of the five benefit items there was a significantlyhigher proportion of the genetic counseling group agreeing with the statements.For the barriers, there were some differences between genetic counseling groupsbut the differences were significant for only two items. The idea that seeing some-one trained in genetics would add to the burden of already dealing with many

Table IV. Reasons for Not Having Counseling for Those Who Were Aware of Genetic Counseling(n = 16)

Number (%)Statement about not taking up genetic counseling “very relevant”

Not sure how genetic counseling could help 11 (73)Able to get enough information from other places 8 (50)Taking care of my child was enough to think about 8 (50)Not given enough information about genetic counseling 7 (44)Not intending to have more children 6 (38)Doctor gave enough information 6 (38)Would not consider a termination of pregnancy for Down syndrome 6 (38)Don’t like the idea of “counseling” 3 (19)

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Table V. Opinions of Participants Regarding Possible Benefits and Barriers to Genetic Counselingand Susceptibility to, and Severity of, Down Syndrome in Children (% Agree or Strongly Agree)

Genetic counseling?

Yes NoStatementa (n = 18) (n = 56)

BenefitsImportant to understand genetic causes (1) 94.5 67.9∗After birth, doctors should tell about genetics experts (6) 94.5 98.2Genetics person would help with decisions about children (9) 72.2 45.4∗Important to discuss emotional issues with counselor (14) 66.6 64.8Explore all avenues to avoid another birth with DS (18) 77.8 48.2∗

BarriersTo see genetics person would add to burden (2) 0.0 25.0∗Finding out about risk of future DS birth makes me anxious (3) 38.9 26.8Would not terminate pregnancy if found to have DS (4) 38.9 53.6Would not consider prenatal diagnosis at this time (5) 11.1 28.6Both parents should be present (8) 88.9 92.7Prefer to speak only to my doctor/pediatrician (15) 27.8 16.7Don’t have much faith in what medical profession can offer (16) 16.7 26.4Health service needs to be in vicinity of home (19) 38.9 25.0Luck major factor in baby born with disability (20) 76.5 48.2∗

SusceptibilityGut feeling next pregnancy likely to be affected by DS (11) 11.8 16.4Feel pretty sure won’t have another child with DS (13Rb) 27.8 18.8Concerned about what may go wrong in future pregnancies (17) 83.3 59.3

SeverityDS one of the worst conditions child can be born with (7) 11.1 3.6Child with DS has significantly affected family relationships (10) 44.5 43.7Outlook for people with DS now good (12Rb) 88.8 83.6

Note.DS= Down syndrome.aSee Appendix for full text. Number in brackets is order in questionaire.bR after the number indicates a reverse item, i.e., agreement with these statements suggests a lower,rather than higher, perceived susceptibility or severity.∗ p < 0.05, comparing the two groups withχ2 test.

health professionals, was agreed with by 25% of those who did not have geneticcounseling but none of the other group (p = 0.02). Luck was seen to be a majorfactor in the birth of a child with a disability by 76% of those who had receivedgenetic counseling compared with 48% of the other group (p = 0.04).

DISCUSSION

This study has shown that the majority of parents who had a baby with Downsyndrome in the mid-1990s did not have genetic counseling. A major predictorof not having genetic counseling was lack of awareness of the service. Thesefindings do not necessarily mean that greater awareness would lead all families tohave genetic counseling, as some families felt they did not need it. However, half

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of those who said they had heard of genetic counseling agreed with “I have verylittle or no idea of what genetic counseling is,” and many indicated they were “notsure how genetic counseling could help.”

There are advantages in using this methodology to assess the use of a geneticcounseling service. All families eligible to use the service for a particular situation,such as the birth of a child with Down syndrome, were included in the targetpopulation. This is in contrast to many studies where only those who have used aservice or are in a support group are surveyed. Using a population sample gives amore complete picture of the experiences across the community. The informationobtained from those who have not used a service identifies where changes can bemade to allow maximum access. The lower proportion eligible to be approachedamongst those who did not have genetic counseling is not surprising, as it wasmore difficult to identify the appropriate doctor to contact in this group.

The genetic basis of the nonhereditary form of Down syndrome is straight-forward and information about Down syndrome might be given adequately by apediatrician or other health professional. In this study, some families commentedthat they were very satisfied with the information and support they received at thetime of the diagnosis. However, the fact that an association between lower levelsof satisfaction withcareand genetic counseling was seen, rather than an associa-tion with satisfaction withinformation, suggests that some families sought geneticcounseling to address their need for care and support. An important function ofgenetic counseling is to provide psychosocial support to families (Biesecker, 2001;Fraser, 1974; Kessler, 1997), although in practice it is sometimes not emphasizedas much as the educational aspects (Kessler, 1997). It is likely that some of thefamilies who were not aware of genetic counseling may have benefited from thisservice, particularly if they perceived their care at the diagnosis to be inadequate.

If health professionals were not informing families of their eligibility to havegenetic counseling it may have been due to their own lack of awareness of theservice or a perception that a diagnosis of Down syndrome is not an indication forgenetic counseling. It is not explicitly stated in professional guidelines for the careof a child diagnosed with Down syndrome that a referral for genetic counselingshould be made. A study by Hayflicket al.(1998) showed that the leading reasonfor a primary care physician not referring for a genetics consultation was theperception that it would not benefit the patient. However, studies of the needs offamilies with either a pre- or postnatal diagnosis of Down syndrome (Edwins,2000; Gath, 1985; Helmet al., 1998; Spahis and Wilson, 1999; Zorziet al., 1980)have shown that having access to balanced information and psychosocial supportin coming to terms with the diagnosis, is very important to families, and that theseneeds are often not met. Although the majority of Down syndrome is the result ofa nondisjunction and has a low recurrence risk, genetic counseling could be veryuseful in addressing some of the families’ needs, particularly the psychosocialneeds (Smyth, 2001).

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Those who had genetic counseling were more likely to have reported theirchild as being unwell at birth compared with the group who had heard of geneticcounseling but did not take it up. This might suggest that having a sick childmotivated parents to seek help, including genetic counseling. It could also be thatthe attending clinicians were clearer in informing parents of the fact that theycould have genetic counseling. Additionally, parents with sick children will havemore contact with medical services and more opportunity to be referred for geneticcounseling.

Many mothers perceived that genetic counseling is most useful when con-templating further children. We found that women who had genetic counselingwere younger, on average, and a higher proportion had a pregnancy subsequent tothe birth of the child with Down syndrome, compared to those who did not havegenetic counseling. Moreover, findings related to the HBM showed that those whohad genetic counseling saw the benefits in terms of helping with reproductive de-cisions and exploring prenatal testing options more often than those who did nothave genetic counseling. Taken together, these findings support the idea that repro-ductive issues are a motivation for some families to have counseling. A Canadianstudy looking at reasons for nonattendance at appointments at a genetics clinicshowed that those who were planning more children were more likely to attend(Humphreyset al., 2000).

The use of prenatal diagnosis in the subsequent pregnancy did not differbetween groups. Previous research has shown that genetic counseling does nothave a big impact on reproductive intentions (Kessler, 1989; Oetting and Steele,1982), even though considering having more children may be a motivator to seekgenetic counseling. In our pilot interview study (Collinset al., 2001) some parentsdiscussed the difficulty of making choices around prenatal diagnosis in a pregnancyfollowing the birth of a child with Down syndrome. Genetic counseling is oneplace where these issues could be addressed, to help parents come to a decisionthat reflects their values and situation (Sjogren and Uddenberg, 1988).

The questions based on the HBM did not provide sufficient information toindicate which domain was most predictive of the uptake of genetic counseling.One reason might be that the items included did not cover the most importantfactors related to uptake in this population. Lack of awareness of the service wasprobably the most salient barrier to uptake, but as this is not an aspect of healthbeliefs, it was not measured by the HBM items. It could be better understood as alack of a “cue to action” (Janz and Becker, 1984). The other limitation of measuringhealth beliefs in this way is that the measurement is done retrospectively so that thebeliefs of those who had attended genetic counseling will have been influencedby the genetic counseling itself. Given these limitations, the factors that wereidentified as possibly motivating the use of genetic counseling were believingthat understanding the genetic causes of the condition was important, and that aperson trained in genetics could help with decisions regarding family planning andprenatal testing.

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With respect to barriers, it appears that some families would find it burden-some to have genetic counseling in addition to seeing other doctors—a belief thatwas not held by anyone who had experienced genetic counseling. The belief thatluck is a major factor in whether a baby is born with a disability (Barrier: Item 20)did not appear to be a barrier, but in fact was a more common belief among thegenetic counseling group. We can only speculate as to the reason for this, but itmight be that luck is thought of as synonymous with chance, a word likely to havebeen used in a genetic counseling session. Genetic counseling may have helped toalleviate the feeling that the parent is somehow responsible or should feel guiltyfor having a child with Down syndrome (Kessler, 1984, 1997) and reinforced theview that the birth is a random event that is out of the parents’ control.

We have demonstrated that there is room for considerable improvement inawareness of genetic counseling services by families and by health professionals.The lower education level of the women who indicated they were not aware ofgenetic counseling is of concern. If education level reflects broader indicatorsof socioeconomic status, it may be that those who have less access to servicesin general, are also less likely to be aware of genetic counseling, as noted alsoby Harper (Harper, 1998, p. 318). A Canadian study found that even when anappointment at a genetics clinic had been made, those with lower education levelswere more likely to miss their appointments (Humphreyset al., 2000). Theremight be many reasons for this, but the authors suggest that lack of awareness ofthe purpose of attending a genetics clinic may have been important (Humphreyset al., 2000), although other factors such as lack of transport to genetics clinicsand job inflexibility might also play a part.

We have assessed the use of genetic counseling services between the birthof children with Down syndrome in 1995/1996 and the end of data collection inthe middle of 2000. The situation is changing constantly and information fromthe Down Syndrome Association of Victoria suggests that the Association is nowcommunicating directly with more parents shortly after the birth of an affectedinfant. The literature distributed to parents by the Association gives contact detailsof the genetic counseling service but it is not clear if this will lead to a greaterawareness of the service and its uses.

It is necessary for the message about genetic counseling to be given frommany quarters including health professionals and written information, to ensureequal access for everyone who is eligible. Some recommendations that could beconsidered to ensure equality of access are

1. To ensure that the existence of genetic counseling services is made knownto parents during the antenatal period, perhaps during antenatal classeswhen the possibility of birth defects is discussed. This recommendationwas suggested as an outcome of our pilot study (Collinset al., 2001).

2. Education for health professionals about the existence and purpose ofgenetic counseling, so that appropriate referrals can be made.

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3. Include in professional guidelines for pediatricians that it should be madeknown to parents that they are eligible for genetic counseling after a diag-nosis of Down syndrome

4. Raise the profile of genetic counseling services in the general communityso that families know they can access these services if necessary.

5. To consider a model used in some areas of the United States, where thereare multidisciplinary clinics including genetic counseling services, forindividuals with Down syndrome and their families (Mills Lovell andSaul, 1999).

APPENDIX

Health Belief Model Statements (See Table V)

Benefits1. It is important for me to understand in detail thegenetic causesof my child’s

condition.6. After having a baby with Down syndrome, doctors should make a point of

telling all families that there are specially trained people to talk to about theirbaby’s condition.

9. Speaking to someone with training in genetics would help me in makingdecisions about having children in the future.

14. It is important for me to be able to discuss emotional issues around havinga child with Down syndrome, with a trained counselor.

18. I would like to explore all available avenues to try to ensure that my futurepregnancies are not affected by Down syndrome.

Barriers2. To see someone especially to talk about genetics would add to the burden

of already dealing with many other doctors and health professionals.3. Finding out in detail about the risk of having another child with Down

syndrome would make me feel anxious.4. I would not consider terminating a pregnancy if the baby was found to be

affected by Down syndrome.5. At this point in time, I would not consider having prenatal diagnosis for any

future pregnancies.8. Both parents should be present when speaking to someone about the genetics

of a child’s condition.15. I would prefer to speak only to my doctor/pediatrician about my child’s

condition.16. In general I don’t have much faith in what doctors and the medical profession

can offer.

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19. Unless a health service is available in the immediate area where I live, I findit difficult to get to it.

20. Luck is a major factor in determining whether your children are born withdisabilities or not.

Susceptibility11. My gut feeling is that my next pregnancy is very likely to be affected by

Down syndrome no matter what I am told of the risk of this happening.13. As I have already had a child with Down syndrome I am fairly sure this will

not happen again.17. Having had one child with Down syndrome I am very concerned about what

other things may go wrong in future pregnancies.

Severity7. Down syndrome is one of the worst conditions a child can be born with.

10. Having a child with Down syndrome has significantly affected our familyrelationships (or my marriage).

12. I think the outlook for people with Down syndrome is very good now becauseof promising new developments in treatment and care.

(The numbers indicate the order in which the questions appeared in thequestionnaire)

ACKNOWLEDGMENTS

We thank the families who generously gave their time to participate in thestudy. We are grateful to staff from Genetic Health Services Victoria (previouslyknown as the Victorian Clinical Genetics Service) and the Down Syndrome Asso-ciation of Victoria for advice and help with recruitment. Thanks also to Dr MacGardner for thoughtful comments on a previous draft of this manuscript.

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