A Cull

AY Kinney

DGR Evans

DW Hadley

ER Gritz

H Campbell

M Dunckley

M Dunlop

M Keller

M Porteous

MG Dunlop

MJ Esplen

NE Haites

S Appleton

S Catt

SW Vernon

English

PubMed

In this pilot study, the acceptability of approaching 111 newly diagnosed colorectal cancer patients with the offer of genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC) was assessed. A total of 78% of participants found it highly acceptable to have the information about HNPCC brought to their attention at that time

Porteous, M

Dunckley, M

Appleton, S

Catt, S

Dunlop, M

Campbell, H

Cull, A

Edinburgh Research Explorer

     Edinburgh Research Explorer                                      Is it acceptable to approach colorectal cancer patients atdiagnosis to discuss genetic testing? A pilot studyCitation for published version:Porteous, M, Dunckley, M, Appleton, S, Catt, S, Dunlop, M, Campbell, H & Cull, A 2003, 'Is it acceptable toapproach colorectal cancer patients at diagnosis to discuss genetic testing? A pilot study' British Journal ofCancer, vol 89, no. 8, pp. 1400-1402. DOI: 10.1038/sj.bjc.6601332Digital Object Identifier (DOI):10.1038/sj.bjc.6601332Link:Link to publication record in Edinburgh Research ExplorerDocument Version:Publisher's PDF, also known as Version of recordPublished In:British Journal of CancerPublisher Rights Statement:Available under Open AccessGeneral rightsCopyright for the publications made accessible via the Edinburgh Research Explorer is retained by the author(s)and / or other copyright owners and it is a condition of accessing these publications that users recognise andabide by the legal requirements associated with these rights.Take down policyThe University of Edinburgh has made every reasonable effort to ensure that Edinburgh Research Explorercontent complies with UK legislation. If you believe that the public display of this file breaches copyright pleasecontact openaccess@ed.ac.uk providing details, and we will remove access to the work immediately andinvestigate your claim.Download date: 28. Apr. 2017Short CommunicationIs it acceptable to approach colorectal cancer patients at diagnosisto discuss genetic testing? A pilot studyM Porteous*,1, M Dunckley2, S Appleton1, S Catt2, M Dunlop3, H Campbell4 and A Cull21Department of Clinical Genetics, Molecular Medicine Centre, Western General Hospital, Crewe Road South, Edinburgh EH4 2XU, UK; 2CancerResearch UK, Edinburgh Oncology Unit, Western General Hospital, Crewe Road South, Edinburgh EH4 2XR, UK; 3Colon Cancer Genetics Group andAcademic Coloproctology, MRC Human Genetics Unit, Western General Hospital, Crewe Road South, Edinburgh EH4 2XU, UK; 4Department of PublicHealth Sciences, University of Edinburgh Medical School, Teviot Place, Edinburgh EH8 9AG, UKIn this pilot study, the acceptability of approaching 111 newly diagnosed colorectal cancer patients with the offer of genetic testing forhereditary nonpolyposis colorectal cancer (HNPCC) was assessed. A total of 78% of participants found it highly acceptable to havethe information about HNPCC brought to their attention at that time.British Journal of Cancer (2003) 89, 1400–1402. doi:10.1038/sj.bjc.6601332 www.bjcancer.com& 2003 Cancer Research UKKeywords: colorectal cancer patients; genetic testing; hereditary nonpolyposis colorectal cancer; acceptabilityAlthough most cases of colorectal cancer occur sporadically, asmall proportion are due to known hereditary syndromes wherethe onset of disease is at an earlier age. The commonest of these ishereditary nonpolyposis colorectal cancer (HNPCC), an autosomaldominant syndrome resulting from mutations in mismatch repair(MMR) genes, which accounts for less than 1% of all colorectalcancers (Evans et al, 1997). It has been estimated that male carriersof an MMR mutation have a 74% lifetime risk of developingcolorectal cancer compared to 30% in females, who also have a42% risk of endometrial cancer (Dunlop et al, 1997).The Colorectal Cancer Genetic Susceptibility (COGS) study aimsto evaluate a new Scottish-wide research strategy for identifyingindividuals at high risk of developing HNPCC. Newly diagnosedcolorectal cancer patients under the age of 55 years are offeredgenetic testing for three mutations in MMR genes (i.e. MLH1,MSH2, MSH6). This allows the identification of HNPCC familiesand enables appropriate screening to be offered to asymptomaticrelatives at increased risk of the disease and to index casespostsurgery.Although a number of studies have investigated the psychosocialaspects of genetic testing for HNPCC in colorectal cancer patients(Vernon et al, 1997; Gritz et al, 1999; Kinney et al, 2000; Esplenet al, 2001; Keller et al, 2002; Hadley et al, 2003), little is knownabout the acceptability of approaching newly diagnosed colorectalcancer patients with the offer of genetic testing.This paper reports descriptive results of the pilot phase of apatient feedback study. This study was an integral part of theCOGS study aiming to determine whether it was acceptable toapproach recently diagnosed colorectal cancer patients aboutgenetic testing at a time when they were already adjusting to a newdiagnosis.MATERIALS AND METHODSParticipantsEthical approval for the COGS study was obtained from themulticentre research ethics committee. Eligible patients in Lothianand Greater Glasgow who were approached for the COGS study(with the permission of their health-care professional), wereinvited to participate in the patient feedback study regardless ofwhether they decided to participate in the COGS study butprovided that they:1. had received a home visit from their local study recruitmentnurse.2. were willing to be contacted to discuss the reasons for theirdecision to/not to participate in the COGS study.ProcedurePatients were invited to participate in the COGS study (pre- orpostoperatively) by their specialist nurse or by post. All patientsexpressing interest were visited in their own home by the localstudy recruitment nurse to: discuss the COGS study; providegenetic counselling by constructing a detailed pedigree andproducing an estimated risk of HNPCC for their relatives (low/moderate/high) based on Scottish guidelines (Haites et al, 2000);gain written consent; take a blood sample for genetic testing. At theend of the visit, all patients meeting the patient feedback studycriteria were given an information sheet about the study and afeedback questionnaire, which they were asked to return in thefreepost envelope provided.MeasuresParticipants’ age, gender and the risk of HNPCC to their relativeswere derived from clinical records.Received 11 June 2003; revised 26 August 2003; accepted 27 August2003*Correspondence: Dr M Porteous; E-mail: mary.porteous@ed.ac.ukBritish Journal of Cancer (2003) 89, 1400 – 1402& 2003 Cancer Research UK All rights reserved 0007 – 0920/03 $25.00www.bjcancer.comClinicalThe brief feedback questionnaire consisted of several study-specific items (with multiple choice or Likert scale responses) toassess:1. Sociodemographic characteristics (i.e. marital status, educa-tion, number of children).2. Prior awareness of familial cancer risk.3. Acceptability of approach with genetic information.4. Decision-making factors concerning the genetic test.5. Subjective understanding of issues discussed in geneticcounselling.6. Expectation of the genetic test result.7. Cancer and genetics worry.RESULTSA total of 160 patients, who were approached to participate in theCOGS study between February 1999 and July 2000, were eligible toparticipate in the patient feedback study. Of the 160 questionnairesgiven to patients, 111 (69%) were returned completed. Only one ofthe 111 patients who completed the questionnaire had declined toparticipate in the COGS study.Of the 111 participants, 61 (55%) were male and 50 (45%) werefemale ranging in age from 31 to 55 years (mean¼ 48.6, s.d.¼ 5.5).The risk of HNPCC for their relatives was low for 60% ofparticipants (n¼ 65), moderate for 39% (n¼ 42) and high for 2%(n¼ 2). The majority were married or living with a partner (n¼ 90,83%), and had been educated up to age 16 years only (n¼ 56,60%). In all, 81% (n¼ 89) had at least one child.Most participants (n¼ 61, 58%) had no prior awareness thatcolorectal cancer could run in families. A total of 36% (n¼ 37) hadbeen concerned that colorectal cancer might run in their family. Ofthe 31% (n¼ 33) who had any experience of colorectal cancer in arelative, 50% (n¼ 15) had been aware that colorectal cancer couldrun in families and 69% (n¼ 20) had been concerned about this.In all, 78% (n¼ 87) thought it was definitely acceptable to havethis genetic information brought to their attention at that time andthe remainder (n¼ 24, 22%) did not mind being approached withthe information.After receiving the information sheet about the COGS study, butprior to discussing participation with a member of staff, 91%(n¼ 101) reported that they had decided to take the genetic test,one individual (1%) had decided not to take the test and nine (8%)were undecided.Table 1 shows how participants rated the importance of severalfactors in their decision whether to undergo genetic testing. For allparticipants (except those without children), the decision-makingfactor most frequently rated as very important was ‘to learn abouttheir children’s risk of developing colorectal cancer’.Participants’ subjective understanding of issues discussed ingenetic counselling is presented in Table 2. The vast majority ofparticipants felt that they had understood these issues.A minority of participants (n¼ 8, 7%) expected that they wouldreceive a positive test result (i.e. they would carry the geneticmutation), 21% (n¼ 23) expected to test negative and 72%(n¼ 79) were unsure.Most participants (n¼ 97, 87%) reported some degree ofdifficulty (a little, quite, very) coming to terms with the diagnosisof cancer, with 15% (n¼ 17) overall reporting that it had been verydifficult. Similarly, the majority of participants (n¼ 89, 80%)indicated that it had been difficult to cope physically with theirillness and treatment, with eight participants (7%) overallreporting that it had been very difficult. A total of 45% ofparticipants (n¼ 48) rated their current worry about their cancerand its treatment at or above the midpoint of 4 on a 1 (not at all) to7 (all the time) scale.In total, 19% of participants (n¼ 21) rated their current level ofworry caused by the genetics information at or above the midpointof 4 on a 1 (not at all) to 7 (all the time) scale. Of these 21participants, 80% (n¼ 16) had rated their current worry abouttheir cancer and its treatment at or above the midpoint, 57%(n¼ 12) and 43% (n¼ 9) had been informed that their relativeswere at low or moderate risk of HNPCC, respectively.DISCUSSIONThe majority of participants found it highly acceptable to haveinformation about HNPCC brought to their attention at a timewhen they were coping with a new diagnosis of colorectal cancer,despite a lack of prior awareness that the disease could run infamilies. The vast majority had decided to accept the offer of agenetic test and reported high levels of subjective understandingconcerning genetic testing. Similar findings have been reported inAmerican colorectal cancer patients in terms of positive attitudesto undergoing HNPCC genetic testing (Gritz et al, 1999).The results suggest that although receiving information aboutHNPCC did not cause most participants undue worry, a minorityof participants rated this worry at the top end of the scale. This wasdespite the fact that most had been informed that their relativeswere at low risk of HNPCC. Likewise, these participants tended toTable 1 Importance of several factors in participants’ decision-makingabout genetic testingaFrequency of ratings on level ofimportanceDecision-making factor Very Somewhat NotPotential advantagesTo learn about children’s riskb 87 (97%) 2 (2%) 1 (1%)To help research 99 (89%) 10 (9%) 2 (2%)Access to screening for family 94 (85%) 14 (13%) 3 (3%)To inform follow-up care 90 (82%) 15 (14%) 5 (5%)To learn more about own cancer 80 (73%) 23 (21%) 7 (6%)To be reassured 74 (67%) 30 (27%) 7 (6%)To plan for the future 70 (63%) 31 (28%) 10 (9%)Potential disadvantagesConcern about effect on family 95 (86%) 14 (13%) 2 (2%)Concern that result not accurate 37 (34%) 36 (33%) 37 (34%)Concern about causingproblems, for example, insurance31 (29%) 42 (39%) 36 (33%)Concern with getting upset 29 (26%) 35 (32%) 46 (42%)aSample size varies due to missing data. bNot applicable for the 21 participants whodid not have children.Table 2 Subjective understanding of issues discussed in geneticcounsellingaFrequency of ratings onunderstandingIssue discussed in geneticcounselling Understand Not sureWhy you have been offered the blood test? 111 (100%) 0What the blood test is for? 109 (100%) 0What a positive result would mean for you? 98 (92%) 9 (8%)What a negative result would mean foryou?102 (95%) 5 (5%)What a positive result would mean for yourfamily?100 (93%) 8 (7%)What a negative result would mean foryour family?98 (93%) 8 (8%)aSample size varies due to missing data.Genetic testing for colorectal cancer patientsM Porteous et al1401British Journal of Cancer (2003) 89(8), 1400 – 1402& 2003 Cancer Research UKClinicalhave rated worry about their cancer and its treatment at the topend of the scale. Further research is needed using standardisedmeasures of psychological distress to assess the clinical signifi-cance of this finding among patients who may already beexperiencing high levels of distress as a consequence of theirrecent diagnosis of cancer. This would enable appropriatepsychological treatment to be offered to clinically distressedpatients and interventions to be targeted at those patients who arelikely to become distressed as a result of receiving informationabout HNPCC. The results of earlier studies of colorectal cancerpatients undergoing genetic testing suggested that 17% (Gritz et al,1999) to 24% (Vernon et al, 1997) were suffering from clinicallysignificant levels of depression.Further research is warranted to: investigate the reasons fornonparticipation in a study offering colorectal cancer patientsgenetic testing for HNPCC; identify characteristics that mayhelp to explain why some patients are less likely to participate inthis type of study; establish whether subjectively reported under-standing of genetic testing can be objectively verified; assess thelonger-term psychological consequences of this novel screeningstrategy.Results from this pilot study will direct the assessment of alarger cohort of colorectal cancer patients invited to participate inthe COGS study. The results of this subsequent research could helpto determine whether this novel screening strategy has thepotential to be incorporated into future NHS services for colorectalcancer patients.ACKNOWLEDGEMENTSWe are grateful to the nurses who assisted with the distribution ofquestionnaires, the COGS study coordinator Ruth Wilson and thepatients who participated in the study. The patient feedback studywas supported by Lloyds TSB Foundation for Scotland and CancerResearch UK. The COGS study is funded by Cancer Research UK,Scottish Executive Chief Scientist’s Office and the National LotteryFund.REFERENCESDunlop MG, Farrington SM, Carothers AD, Wyllie AH, Sharp L, Burn J,Liu B, Kinzler KW, Vogelstein B (1997) Cancer risk associatedwith germline DNA mismatch repair gene mutations. Hum Mol Genet6: 105 – 110Esplen MJ, Madlensky L, Butler K, McKinnon W, Bapat B, Wong J, AronsonM, Gallinger S (2001) Motivations and psychosocial impact of genetictesting for HNPCC. Am J Med Genet 103: 9 – 15Evans DGR, Walsh S, Jeacock J, Robinson C, Hadfield L, Davies DR,Kingston R (1997) Incidence of hereditary non-polyposis colorectalcancer in a population-based study of 1137 consecutive cases ofcolorectal cancer. Br J Surg 84: 1281 – 1285Gritz ER, Vernon SW, Peterson SK, Baile WF, Marani SK, Amos CI, FrazierML, Lynch PM (1999) Distress in the cancer patient and its associationwith genetic testing and counseling for hereditary non-polyposis coloncancer. Cancer Res Ther Control 8: 35 – 49Hadley DW, Jenkins J, Dimond E, Nakahara K, Grogan L, Liewehr DJ,Steinberg SM, Kirsch I (2003) Genetic counseling and testing in familieswith hereditary nonpolyposis colorectal cancer. Arch Intern Med 163:573 – 582Haites NE, Cancer Genetics Subgroup of the Scottish Cancer Group (2000)Guidelines for regional genetic centres on the implementation of geneticservices for breast, ovarian and colorectal cancer families in Scotland. JGynecol Oncol 5: 291 – 307Keller M, Jost R, Mastromarino Haunstetter C, Kienle P, Knaebel HP,Gebert J, Sutter C, Knebel-Doeberitz M, Cremer F, Mazitschek U (2002)Comprehensive genetic counseling for families at risk for HNPCC:impact on distress and perceptions. Genet Test 6: 291 – 302Kinney AY, Choi YA, DeVellis B, Millikan R, Kobetz E, Sandler RS (2000)Attitudes toward genetic testing in patients with colorectal cancer.Cancer Pract 8: 178 – 186Vernon SW, Gritz ER, Peterson SK, Amos CI, Perz CA, Baile WF, Lynch PM(1997) Correlates of psychological distress in colorectal cancer patientsundergoing genetic testing for hereditary colon cancer. Health Psychol16: 73 – 86Genetic testing for colorectal cancer patientsM Porteous et al1402British Journal of Cancer (2003) 89(8), 1400 – 1402 & 2003 Cancer Research UKClinical

Is it acceptable to approach colorectal cancer patients at diagnosis to discuss genetic testing? A pilot study

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Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet 6: 105–110 Esplen

Correlates of psychological distress in colorectal cancer patients undergoing genetic testing for hereditary colon cancer.

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Is it acceptable to approach colorectal cancer patients at diagnosis to discuss genetic testing? A pilot study

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