American Journal of Medical Genetics 136A:122–127 (2005)

Development of an Audit Tool for Genetic ServicesHeather Skirton,1* Evelyn Parsons,2 and Paul Ewings3

1University of Plymouth, Plymouth, United Kingdom2University of Wales College of Medicine, Cardiff, United Kingdom3Taunton and Somerset NHS Trust, Taunton, United Kingdom

Rapid growth in demand and altered professionalroles have produced changes in the delivery ofgenetic services over the past decade, but thesehave not been rigorously evaluated because of thepaucity of appropriate audit tools. The aim of thisstudy was to use clients’ accounts and factoranalysis to develop a robust assessment and audittool. Qualitative data abstracted from severalpublished studies were used to generate a numberof statements related to outcomes of geneticservices. A total of 57 statements were incorpo-rated into a questionnaire. The questionnaire wasmailed to clients of the Wales genetic service(n¼133) who had completed their episode of care.Respondents were asked to rank each statementon a seven-point Likert type scale. Responseswere subjected to factor analysis. A total of 97anonymized responses were received (73% res-ponse rate). Six main factors were found tocontribute to the outcome of the service from theclient’s perspective. These were labeled (i) en-hanced understanding, (ii) positive psychologicalchange, (iii) respect for autonomy, (iv) adaptation,(v) disequilibirium, and (vi) value of contact. Theaudit tool has now been refined for use in evaluat-ing genetic services. Questions are included toinvestigate the six outcome areas shown to berelevant from the client’s perspective. Data fromthe next phase of the study will be analyzed tovalidate the tool for use in both clinical audit andresearch contexts. � 2005 Wiley-Liss, Inc.

KEY WORDS: genetic counseling; genetic ser-vice; audit tool; client perspective

INTRODUCTION

Background to the Study

Genetics clinics were first established as part of healthservices for families in the United Kingdom (UK) and in theUSA in the late 1940’s. The definition of genetic counselingpublished by the Ad Hoc Committee on Genetic Counseling ofthe American Society of Human Genetics [1975] emphasizesthat it is a process of communication that addresses the

problems and challenges that accompany the risk of a genetic

condition in the family. This definition is relevant today in bothgeneral [Harper, 2004] and cancer genetic services [Lobb et al.,2004]. Although specialist genetic services primarily servefamilieswho are at high risk of genetic conditions, increasinglygenetics is becoming an integral part ofmany other specialities[Guttmacher and Collins, 2003], and theway in which servicesare delivered will therefore have an impact in a wider contextin future.

There have been numerous studies aimed at assessinggeneric genetic services. These have focussed on well-definedoutcomes generated by researchers and/or professionals.Changes in reproductive behavior [Sorenson et al., 1987; Fretset al., 1990; D’Amico et al., 1992], retention of recurrence riskfigures [Rona et al., 1994] and satisfaction with the consulta-tion [Shiloh et al., 1990;Croyle et al., 1997] have all historicallybeen used as outcome measures. Other relevant work byWilliams et al. [2001] has identified the outcomes of geneticcounseling from the perspective of genetic nurses in both theUK and the USA. The outcomes considered important from anursing perspective were increased client knowledge, helpwith decision-making, assistance in coping with the conditionor risk, and satisfactionwith the service.However, nurseswerenot asked to comment on concepts that emerged from workdirected at the client perspective of control or certainty.

More recent qualitative studies seeking clients’ views havegenerated outcomes of genetic services, some of which aredifficult to measure empirically. Work by Skirton [2001] andSkirton and Eiser [2003] has indicated that one importantoutcome from the client’s perspective relates to changes inpsychological adaptation to the genetic condition or to the riskof the condition. Obtaining certainty in some form was helpfulto these clients. The nature of the relationship between clientsand staff of the genetic servicewas also integral to the outcome;clients stated that they wanted to feel they were treated asindividuals, and were more able to accept the geneticinformation offered to them if they felt this was the case.These findings have been confirmed in several other studies.McCarthy Veach et al. [1999] demonstrated the importance ofpersonal contact to the outcome while Parsons et al. [2000]described the search for certainty in women at risk of familialbreast cancer. Berkenstadt et al. [1999] also identified thepsychological benefits of genetic counseling when the client’ssense of control over the situation is increased.

The rise in demand for cancer genetic counseling has beenaccompanied by a number of studies of this particular area ofgenetic service activity [Butow et al., 2003]. Lobb et al. [2004]studied a cohort of women receiving genetic counseling forfamilial cancer risk. Audio taped interviews of the geneticcounseling sessions were analyzed, and satisfaction, psycho-logical status, and risk perception assessed using pre and postcounseling questionnaires. These authors found that facilita-tion of the client’s understanding of their genetic risks andoptions significantly decreased anxiety [Butow et al., 2003].However, one surprising finding indicated that clients whosecounsellors hadusedmore supportive interventions during thesession had increased short-term anxiety levels. A review ofstudies of cancer genetic counseling [Cullen et al., 2004]

Grant sponsor: The Wales Office for Research and Develop-ment.

*Correspondence to: Dr. Heather Skirton, Reader in HealthGenetics, Faculty of Health and Social Care, University ofPlymouth, Somerset Centre, Wellington Road, Taunton TA15YD, United Kingdom.

Received 18 August 2004; Accepted 13 December 2004

DOI 10.1002/ajmg.a.30711

� 2005 Wiley-Liss, Inc.

indicated that a vast array of different instruments have beenused to assess the psychological state of the subject after suchcounseling, but only one of the 210 studies used satisfaction andquality of information as an outcomemeasure. A Scottish studyof two methods of service delivery of cancer genetic counseling[Fry et al., 2003] found that cancer worry was still significantlyreduced in thosewho had received genetic counseling, 6monthsafter they had accessed the service. Braithwaite et al. [2004]conducted a meta-analysis of studies of psychological impact ofcancer genetic counseling and concluded that while knowledgeof cancer genetics was increased in subjects who had under-gone cancer genetic counseling, perceived risk did not alter.These authors also concluded that long-term studies of theoutcomes of genetic counseling were needed.

Despite the volume of work on outcomes and process ofgenetic counseling, a satisfactory generic outcomemeasure forthe service has not been reported. The lack of a reliable,validated measure is seriously impeding rigorous audit of theservice and comparison of different models of service delivery,such as analysis of genetic counseling delivered by practi-tioners of different professional backgrounds. This obviouslyhas implications for the use of health resources. Factor anal-ysis studies such as the one described here, have previouslybeen used successfully to develop healthcare assessment tools[Meehan et al., 2002]. In exploratory research of the client’sexperience, qualitative data is often collected to gain anunderstanding of the range of outcomes. These data can thenbe used to inform the design of instruments that define theoutcomes more stringently. This paper reports the results of astudy, the aim of whichwas to develop a practical research andaudit tool to measure outcomes of clinical genetic services.

Full ethical approval was obtained for this study from theWales Multi-centre Research Ethics Committee.

METHOD

The objectives of the study were:

* to use previously collected client interview data to identify arange of potential questionnaire items that could be used toassess the delivery of an effective genetic service.

* to incorporate these items into a questionnaire to collectdata from clients of the genetic services in Wales.

* to analyze the resultant data using factor analysis techni-ques.

Step 1. Questionnaire Construction

A questionnaire of 57 items (Table I) was devised usingstatements derived from previous research studies. Theseitems related to service user’s accounts of their experience ofthegenetic service [McCarthyVeachet al., 1999;Skirton, 2001;Skirton andEiser, 2003], relevant studies providing particularconcepts related to outcomes [Rona et al., 1994; Berkenstadtet al., 1999] and a study of outcomes from the genetic nurseperspective [Williams et al., 2001]. These itemswere discussedwith experienced clinical staff of the All-Wales genetic serviceand some slight amendments made in accordance with theirsuggestions. When using factor analysis, it is suggested byKline [1994] that at least twice the number of items that arerequired on the final tool should be included in the studyquestionnaire. As a final tool of around 15–20 items wasconsideredacceptable for ease of client use, at least 40potentialitems were needed for the questionnaire.

Step 2. Data Collection

Clinical staff of the genetic service were asked to providedetails of the study to clients who had completed their current‘‘episode’’ of care. As a factor analysis study is performed to

TABLE I. Items for Original Questionnaire (n¼57)

I learnt the name of the genetic conditionI have more understanding of how the condition affects the personwho has it

I have more understanding of how the condition develops during aperson’s lifetime

I have more understanding of what causes the conditionI do not know any more about the signs and symptoms of thecondition

I know more about how to prevent complications of the conditionI understand the risk of getting the condition myselfI understand the risk of my relatives getting the conditionI have more understanding of the severity of the conditionI do not know any more about the possible complications of thecondition

I feel more able to decide about genetic testing for myselfI feel more able to decide about genetic testing for my childrenI understand the advantages of genetic testing for the conditionI understand the disadvantages of testing for the conditionI feel more undecided about genetic testing for myselfI can see that other people in my family might feel differentlyabout testing than I do

I am more able to weigh up the pros and cons of any alternativesfor action that I might have

I can see how my decisions related to the genetic condition mightaffect others

I feel able to cope better with the condition in my familyI feel less stressed generallyI feel less in control of my situationI feel more positiveI have greater peace of mindI feel more negativeI feel more at ease with myselfI felt I had wasted my timeI have accepted my situation moreI feel less certain about the futureI have changed my lifestyle because of the information I receivedI feel I have enough support from professionalsI feel I can adapt better to changesI am more able to ask for help if I need itI feel more in tune with others close to meI have developed more ways of dealing with stressI feel more physically comfortableI feel I am coping with my condition worse than I was beforeI feel out of step with others in my familyI did not feel I was being told what I should doMy main questions were answeredI wanted to be told what to doI did not feel comfortableI feel talking to the staff of the genetic service was helpful to meI couldn’t understand what I was toldI felt I was being told what to doI found out it was not possible to have all my questions answeredI feel talking to the staff was not at all helpful to meI felt treated as an individualThe clinic venue was satisfactoryThe information the staff gave me about the condition does not fitin with how it has affected my own family

I had bad news but prefer having bad news to living withuncertainty

The explanations I was given were clearI feel more able to live with the uncertainty of my situationI wish I had not been referred to the genetics serviceI could not understand the explanations I was givenI felt the staff treated me as if I was on a conveyor beltI felt I received adequate information about the genetic servicebefore my appointment

I feel that the genetics referral was beneficial for me

Genetic Service Audit Tool 123

identify variance, a heterogeneous sample is considereddesirable as the total variance is likely to be increased withsuch a sample [Kline, 1994]. The questionnaire was mailed toall clients of the genetic service in Wales who gave consent byproviding their name and address to the researcher, over aperiod of 10 months (n¼ 133). The number of responsesrequired for such a study has been identified as being between50 and 100 [MacCallum et al., 1999; Sapnas and Zeller, 2002].The study was continued as long as practicable (10 months) inan effort to obtain a sample size of 100.

Inclusion criteria. Clients seen by medical or non-medical staff of the All-Wales genetic service.

Clients with any type of genetic condition or concern.Clients aged 18 years or over.Clients from any region of Wales.Clients who were seen in either their own home or a clinical

setting.Exclusion criteria. Clients less than 18 years of age.Clients with learning difficulties (because of the difficulty of

obtaining informed consent without personal contact).Clients who were not fluent in English.Additional exclusion criterion. If the healthcare ser-

vice staffmemberwho saw the client considered that therewasa significant risk of the client being distressed due to receipt ofthe questionnaire (for example, due to current emotionaltrauma) the client was not invited to participate in the study.Due to maintenance of client confidentiality it is not knownhow often this occurred.

The participantswho responded to the invitationwere sent aquestionnaire and asked to rate the relevance of eachstatement on a seven-point Likert-type scale (1¼ totally agree,2¼ agree to some extent, 3¼ slightly agree, 4¼neither agreenor disagree, 5¼mildly disagree, 6¼disagree to some extent,and 7¼ totally disagree). In addition, participants had theoption of marking a section to indicate that the item didnot apply to their experience in any way (8¼does not applyto my referral in any way). This additional option was provid-ed because some items related to specific issues that mightnot apply to all participants (such as genetic testing). Ascore equal to 4 (the score applied to the response ‘‘neitheragree or disagree’’) was also assigned to the ‘‘does not apply’’response.

Step 3. Data Analysis

Demographic data were analyzed using descriptive statis-tical tests. The correlation between responses to individualitems was analyzed using Pearson’s correlation co-efficient.Items were considered highly correlated if the two-tailedsignificance was calculated as <0.001.

Factor analysis is a statistical technique that enables thecorrelation between numbers of statements or items on thequestionnaire to be calculated. As the technique calculatesfactors (groups of items that correlate well), large numbers ofquestionnaire items can (and should) be used initially. Allitems on the questionnaire have equal weighting before theanalysis. After analysis, their importance can be assessed bythe factor loadings that are produced through the analysis.

The results were subjected to a factor analysis study, usingprincipal components analysis and rotation of significantfactors by Varimax orthogonal rotation. A decision on thenumber of factors of relevance was made based on the eigen-value (value >1.00 considered) and use of a Scree test[Cattell, 1978]. This enabled items that are most significantfrom the client’s perspective to be identified and subsequentlyincluded in the audit questionnaire, while those that are notrelevant or of little importance to the majority of participantswere omitted.

RESULTS

A total of 97 responses were received, of which 14%participants were male and 86% were female. Participantsself-reported the location of their home,with 58 (59.8%) statingthat they lived in a town or city, and 39 (40.2%) reporting thatthey resided in a rural area. The age of respondents is given inTable II.

Discarding of Less Relevant Items

For each question, participants had the opportunity to markthe question ‘‘does not apply’’ instead of marking one of thescores on the seven-point Likert-type scale. After initialfrequency data were calculated, it was noted that there were12 items thatwere judged bymore than20%of the cohort to notbe applicable to their experience of the genetic service. Theseitems were discarded.

Extraction of Factors

UsingSPSSsoftware, the remaining45 itemswere subjectedto principal components analysis (PCA). Twelve componentswere extracted. Varimax orthogonal rotation was performedand rotation converged in 16 iterations.

Twelve factors emerged with an eigenvalue of greater than1.00. Table III shows the total variance for the 12 factors witheigenvalues of greater than 1. A Scree test [Cattell, 1978] wasused to identify that the first six factors were of relevance tothis analysis. Items with a loading of less than �0.5 or greaterthan 0.5 were identified. For inclusion, there also has to be adifference of at least 0.2 in the loading of the item for that factorwhen compared with the loading of that item in other factors.

Labeling of Significant Factors

Six factors emerged from the analysis (Table IV). The itemsidentified as significant within each factor were examined andeach factor labeled to reflect the identified theme. The factorshave been labeled as enhanced understanding, positive

TABLE II. Demographic Profile of Participants by Age

Age

18–29 N¼14 (14.4%)30–39 N¼38 (39.2%)40–49 N¼21 (21.6%)50–59 N¼17 (17.5%)60–69 N¼ 6 (6.2%)70 and over N¼ 1 (1.0%)

TABLE III. Total Variance Explained

Component

Rotation sums of squared loadings

TotalPercentage of

varianceCumulativepercentage

1 6.468 14.373 14.3732 3.993 8.873 23.2463 3.361 7.468 30.7144 2.911 6.470 37.1845 2.480 5.512 42.6966 2.210 4.912 47.6077 2.138 4.751 52.3598 2.109 4.686 57.0459 1.952 4.338 61.38310 1.722 3.827 65.21011 1.701 3.779 68.99012 1.426 3.168 72.158

124 Skirton et al.

psychological change, respect for autonomy, adaptation,disequilibrium, and value of contact.

The items identified inTable IV (n¼ 18)were selected for thefinal questionnaire (Table V). The final tool includes items thatare positive statements (n¼ 13) about the experience and somethat rate the experience negatively (n¼ 5).

DISCUSSION

This work has built on the results of previous studies todevelop a questionnaire for use in audit and research of geneticservices.

The skewed sex ratio ofmale to female participants has beena feature ofmanyother studies of genetic services [Michie etal.,1997; McCarthy Veach et al., 1999; Skirton, 2001] and doesreflect the difference in numbers of male and female users ofthe genetic service. Enrolment into the study was slower thananticipated, and the period of recruitment was extended toenable an adequate sample to be obtained. The size of the dataset is acceptable for an analysis of this type [Kline, 1994;MacCallum et al., 1999; Sapnas andZeller, 2002], particularly,where the items have emerged from prior qualitative analysisof clients’ views.

Enhanced knowledge was identified as the first factor.Changes in knowledge are the focus of numbers of previousstudies of the outcomes of genetic counseling from the early1970’s through to the present [Carter et al., 1971; Abramovskyet al., 1980; Frets et al., 1990; Rona et al., 1994]. It was also anoutcome considered by genetics nurses to be pertinent to theircare of families [Williams et al., 2001].While three of the items(Items 2,3,9) in this factor related to general information thatcould be provided by a number of health professionals, theothers (Items 4,8,13) related to cause, genetic risk, and genetictesting, which are areas of high relevance to genetic health-care.Enhancedknowledge is coveredunder thefirst threeaimsof genetic counseling as defined by the ASHG [1975], ‘‘to helpthe individual or family to [1] comprehend the medical facts,including the diagnosis, probable course of the disorder, andthe available management; [2] appreciate the way hereditycontributes to the disorder, and the risk of recurrence inspecified relatives; [3] understand the alternatives for dealingwith the risk of recurrence.’’ The importance of enhancingknowledge as part of a clinical genetic service is likewisereflected in the Scope of Practice for genetics nurses, describedby the International Society for Nurses in Genetics [ISONG,1998] and in the competency framework for registration ofgenetic nurses and counselors by the Association of GeneticNurses and Counselors in the United Kingdom [AGNC, 2004].It is relevant to note that some of the latest literature hasfocussed on assessing strategies to deliver genetic information,such as a randomized trial of educational literature [Appletonet al., 2004] rather than assessing changes in client knowledgeper se.

The second factor relates to positive psychological change.Clients interviewed as part of the author’s previous study[Skirton, 2001] stated that although their referral to thegenetic service had not materially altered their lifestyle,reproductive plans or employment, theyhadvalued the contactbecause it had brought them greater peace of mind andpsychological acceptance of the situation.A study byLobb et al.[2004] demonstrated that discussion of genetic testing reducedanxiety and facilitating understanding reduced depression inwomen at risk for familial breast cancer, which suggests thatenhanced knowledge does directly affect psychological statusin this group of clients. Further studies to explore this findingacross other groups of genetic service clients is required.

An important aspect of genetic healthcare from the client’sperspective has been labeled respect for autonomy. This

TABLE IV. Table of Factors and Significant Items

Factor Title Items with weighting >0.5 or <�0.5

Factor 1 Enhanced understanding 2. I have more understanding of how the condition affects the person who has it3. I have more understanding of how the condition develops during a person’s lifetime4. I have more understanding of what causes the condition8. I understand the risk of my relatives getting the condition9. I have more understanding of the severity of the condition13. I understand the advantages of genetic testing for the condition

Factor 2 Positive psychological change 22. I feel more positive23. I have greater peace of mind24. I feel more negative (negative loading)

Factor 3 Respect for autonomy 39. My main questions were answered44. I felt I was being told what to do (negative loading)

Factor 4 Adaptation 31. I feel I can adapt better to changes32. I am more able to ask for help if I need it33. I feel more in tune with others close to me

Factor 5 Disequilibrium 41. I did not feel comfortable43. I couldn’t understand what I was told54. I could not understand the explanations I was given

Factor 6 Value of contact 47. I felt treated as an individual53. I wish I had not been referred to the genetics service (negative loading)

TABLE V. Items for the Audit Tool

I have more understanding of how the condition affects the personwho has it

I have more understanding of how the condition develops during aperson’s lifetime

I have more understanding of what causes the conditionI understand the risk of my relatives getting the conditionI have more understanding of the severity of the conditionI feel more positiveI have greater peace of mindI feel more negativeI feel I can adapt better to changesI am more able to ask for help if I need itI feel more in tune with others close to meMy main questions were answeredI did not feel comfortableI could not understand what I was toldI felt I was being told what to doI felt treated as an individualI wish I had not been referred to the genetics serviceI could not understand the explanations I was given

Genetic Service Audit Tool 125

concept is consistent with the long-held philosophy of geneticcounseling that clients have the right to make their ownchoices without coercion [Kessler, 1997] and has been cited byCiarleglio et al. [2003] as the core principle of genetic coun-seling.Offering genetic serviceswithout any form of coercion isa key point in the code of ethics of the National Society forGenetic Counselors [NSGC, 2004]. The importance of beingtreated respectfully as an individual is also reflected by thesixth factor, labeled value of contact. The belief by the clientthat the referral was beneficial to them links with the item onbeing treated as an individual. Kaiser et al. [2004] recentlypublished work studying the effect of group educationalcounseling sessions forwomen undergoing prenatal screening.Therewasno significant change in riskperception or anxiety inthe women after the group session, but after subsequentindividual sessions, risk perception and anxiety decreased. Inanother study [Green et al., 2004] comparing the effects ofcomputer-delivered education versus standard genetic coun-seling for woman at risk for familial breast cancer, thecomputer program was more effective at delivering education,but anxiety was lower and risk perception more accurate onthose that had been counseled. These studies would appear toconfirm that an individualized approach is helpful in enablingclients to utilize the genetic information provided.

A concept that appears to contrast with factor 2 (positivepsychological change) is the factor labeled disequilibrium.Within this factor, the discomfort reported by clients appearslinked to lack of understanding, and with the emphasis onenhanced knowledge as the first factor, this connectionappears logical. Effective communication requires comprehen-sible explanations at the client’s level and use of the client’sown terminology where possible [Monach, 1998]. The lack ofunderstanding may also reflect an incongruence between thescientific explanation and the client’s previously held laybeliefs about the condition [Skirton, 2001]. In addition, theinformation provided may not include the definitive prognosisor diagnosis that was expected. However, as the precise natureof the client’s discomfort is not apparent through this question-naire, more work on this aspect is required for clarification.

Factor 4 indicates that clients believe accessing genetichealthcare services aids adaptation to the genetic situation.This is consistent with the definition of genetic counseling[ASHG, 1975] which states the health professional ‘‘help(s) thefamily make the best possible adjustment to the disorder in anaffected family member and/or the risk of recurrence of thatdisorder.’’ Genetics nurses and counselors registered by theAGNC are expected to demonstrate competence in using arange of counseling skills to facilitate the client’s adjustment[AGNC, 2004] and the Standard Ve. for genetic nurses in theUSA states that nurses use counseling skills to assist clients inadjusting [ISONG, 1998].

Theuse of genetic serviceshasapotentially positive effect forclients, but the therapeutic benefits emerge from a series ofinter-related processes that include acquisition of knowledge,accessing support, being treated as an autonomous individualandacquiringpeace ofmind.Thepotential interactionbetweenthese processes, such as that between acquisition of knowledgeand peace of mind, needs further exploration. It is shown thatstudies related to improvement in client knowledge or clientdecision-making following access to genetic services are highlyrelevant, they do not address all the issues connected withproviding a quality service from the client’s perspective. It isnot surprising that audit of services has been difficult, sincemany of the concepts involved (i.e., ‘‘autonomy,’’ ‘‘disequili-brium,’’ or ‘‘adaptation’’) are not easily measured in aquantitative sense. The study confirms the beneficial effect tothe client of being treated as an individual and having theopportunity to ask personalized questions. This is an impor-tant confirmation of the benefit of individualized services,

especially as in the face of increasing referrals the amount ofpersonal contact may diminish.

It is important to note that the six factors accounted for only47.60% of the total variance. This could reflect the size of thesample, and further studies to collect more data would help toclarify whether this is so. The result may also reflect theheterogeneity of the group of clients and their needs. Clientswho were assessed by clinical staff as being very distressedwere not recruited to this study. Due to the large number ofstaff involved in recruitment, it was not possible to accuratelyassess the number of clients in this category but anecdotally itappears the number was very small. The exclusion of theseclients may also have reduced the amount of variance, butusing this approach to identify concepts thatwere of relevance,it is unlikely that the actual items identified as important fromthe client’s perspective would have differed.

This study used a sample of clients that was not defined bycondition or life stage and this supports the view that thefindings are appropriate for use in a generic tool for audit ofgenetic services. However, the expected and actual outcomesfor clients with different conditions and at different lifestagesmay be so complex and multi-dimensional that a single audittool cannot be used to capture all the information that isimportant to such clients. It may be necessary to developadditional items to asses outcomes in particular situations,suchasprenatal diagnosis orpredictive testing to capturemoreof the relevant data.

THE WAY FORWARD

The audit tool (Table V) developed through this study willnow be piloted. It will be challenging to test validity using thisquestionnaire, as other relevant questionnaires that measureoverall outcomes of genetic services do not currently exist.However, tools thatmeasure satisfactionwith service, changesin knowledge and adaptation can be utilized.

Following validation, the tool is also intended for use as partof a range of outcome measures that can be used for ongoingaudit of genetic services. As services are increasingly providedby non-medical personnel (genetic nurses and counselors) andin different healthcare settings, use of this tool will enhancestudy of service provision and effective use of healthcareresources.

ACKNOWLEDGMENTS

The researchers thank the clinical staff of the All-WalesGenetic Service and the clients of that service who completedquestionnaires to provide the data. Thanks to Mrs AudreyBudding for her significant clerical support and ProfessorJanet Williams, who offered suggestions on the paper.

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