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A descriptive study of UK cancer genetics services: an emerging clinical response to the new genetics

A descriptive study of UK cancer genetics services: an emerging clinical response to the new... British Journal of Cancer (2001) 85(2), 166–170 © 2001 Cancer Research Campaign doi: 10.1054/ bjoc.2001.1893, available online at http://www.idealibrary.com on http://www.bjcancer.com A descriptive study of UK cancer genetics services: an emerging clinical response to the new genetics 1 2 3 4 5 4 1 D Wonderling , P Hopwood , A Cull , F Douglas , M Watson , J Burn and K McPherson 1 2 Cancer and Public Health Unit, London School of Hygiene and Tropical Medicine, Keppel Street, London, WC1E 7HT; The Cancer Research Campaign Psychological Medicine Group, Christie Hospital NHS Trust, Wilmslow Road, Withington, Manchester, M20 4BX; Imperial Cancer Research Fund, Psychology Group, Western General Hospital, Outpatient Building, Edinburgh, EH4 2XU; Department of Medical Genetics, Regional Genetics Service, 19/29 Claremont Place, Newcastle-upon-Tyne, NE2 4AA; Psychological Medicine, Royal Marsden Hospital and Institute of Cancer Research, Downs Road, Sutton, Surrey, SM2 5PT Summary The objective was to describe NHS cancer genetic counselling services and compare UK regions. The study design was a cross- sectional study over 4 weeks and attendee survey. The setting was 22 of the 24 regional cancer genetics services in the UK NHS. Participants were individuals aged over 18 attending clinics at these services. Outcome measures were staff levels, referral rates, consultation rates, follow-up plans, waiting time. There were only 11 dedicated cancer geneticists across the 22 centres. Referrals were mainly concerned with breast (63%), bowel (18%) and ovarian (12%) cancers. Only 7% of referrals were for men and 3% were for individuals from ethnic minorities. Referral rates varied from 76 to 410 per million per annum across the regions. Median waiting time for an initial appointment was 19 weeks, ranging across regions from 4 to 53 weeks. Individuals at population-level genetic risk accounted for 27% of consultations (range 0%, 58%). Shortfalls in cancer genetics staff and in the provision of genetic testing and cancer surveillance have resulted in large regional variations in access to care. Initiatives to disseminate referral and management guidelines to cancer units and primary care should be adequately resourced so that clinical genetics teams can focus on the genetic testing and management of high-risk families. © 2001 Cancer Research Campaign http://www.bjcancer.com Keywords: genetic counselling; cancer genetics services; health service organization; Calman-Hine There has been intense media publicity for cancer genetic dis- Advisory Group on Cancer, 1995). First, the role of primary care coveries, especially those relating to breast cancer (BRCA1 and would be to refer on individuals newly identified as being at poten- BRCA2), resulting in an increased public demand for information, tially high genetic risk of cancer, to follow-up existing high-risk reassurance and cancer screening. individuals and to reassure individuals at population-level risk. In the UK, most regionally based clinical genetics centres now Second, cancer units (based at district general hospitals) staffed by provide genetics clinics that are specifically for familial cancers. oncologists and surgeons with an interest in genetics, would These services often involve collaboration between clinical geneti- provide risk assessment and, if appropriate, screening for individ- cists, oncologists and other specialists. They have developed in a uals at moderately increased risk. Third, specialist genetics services variety of ways according to local expertise and funding. In addi- would be integrated into the specialist cancer centre, serving a tion, a number of other family history clinics have been set up by population of 1–2 million. This specialist service would be led by a other clinicians, such as breast surgeons, with variable levels of consultant with training in both oncology and genetics, supported training in clinical genetics. A cancer genetics service will offer or by 2 clinical nurse specialists (or one nurse and one clinical assis- recommend some of the following: risk estimation (based on tant). The specialist service would deal with high-risk individuals molecular genetic analysis or more often on family history); and would provide referral and management guidelines for the genetic risk counselling; clinical examination; screening/surveil- primary care and cancer unit teams within its region. The Harper lance for early tumour detection (mammography, endoscopy, etc); report forms the basis of the NHS Cancer Plan’s framework for information on preventative strategies (surgery, diet, etc); family cancer genetics services (NHS Executive, 2000). planning advice; and referral for psychological assessment/support An alternative service organization model has been proposed (Murday, 1994; Ponder, 1994; Eeles and Murday, 1996). for Scotland (Priority Areas Cancer Team, 1998). Unlike the In 1996, the Department of Health set up a working group on Calman-Hine scheme, there is no second tier. Instead staff from cancer genetics services chaired by Professor Peter Harper. The the regional genetics service would support staff in surveillance Harper report (Working Group for the Chief Medical Officer, 1998) units and in primary care facilities by carrying out genetic coun- recommended organization of cancer genetic services for England selling in outreach clinics. The service in Northern Ireland is and Wales in a 3-tier structure integrated with the developing 3-tier modelled on the Calman-Hine system (Morrison and Nevin, cancer service that followed the Calman-Hine Report (Expert 1999), but is developing centralized referrals mechanism, along the lines of the Scottish services. Following the identification of cancer-predisposing genes, Received 18 August 2000 the national picture of cancer genetics service activity has been Revised 29 March 2001 unclear. Reported in this paper are the results of a cross-sectional Accepted 5 April 2001 study conducted in 1998 showing the pattern of cancer genetics services across the NHS. Correspondence to: P Hopwood 166 A descriptive study of UK cancer genetics services 167 questionnaires to more than two thirds of referred individuals METHODS before deciding whether to offer an appointment. One would All regional genetics services in the UK were invited to partici- expect these centres to be seeing proportionately fewer people than pate. Procedures were explained at a training workshop to help those centres with less restrictive appointment criteria. ensure good compliance. Ethical approval was obtained through 12 of the 22 lead clinicians from the centres were aware of other the Multicentre Research Ethics Committee. cancer family history clinics within the region but outside of their During a pre-specified 4-week period cancer genetic activity in jurisdiction. They specified 13 such clinics organized by breast all participating centres was logged. Designated staff-members at screening units, 14 by breast surgeons and 2 by bowel surgeons, each centre completed report forms for every referral received, although these may represent the tip of the iceberg. In Scotland every individual attending, every telephone consultation and the clinicians reported that almost all family history clinics were every cancellation/did-not-attend. Only activity relating to organized by the regional genetics service. subjects under the age of 18 was excluded from the study. Information was requested about types of cancer/syndrome, Staffing of centres source of and reason for referral, content of consulation and risk management plan for the individual. In addition, the lead consul- In total there were 17 whole-time equivalent (WTE) consultants tant at each study centre was asked to supply general information for a total catchment population of 53 million, consisting of 11 about their service, such as catchment population size, frequency ‘dedicated’ cancer genetics consultants (those spending more than of clinics and details of staffing. Clinic attendees gave written 50% of their working time on cancer genetics) and another 46 informed consent and were asked to complete a questionnaire to consultants (mainly clinical geneticists) allocating less time. This provide mainly sociodemographic information. amounts to 0.3 WTE consultants, or 0.2 ‘dedicated’ consultants, We tested to see if the variability observed between regions per million of population. There were another 5 ‘dedicated’ cancer could have occurred by chance. The Kruskal–Wallis test was used genetics clinicians below consultant grade and 33 genetic counsel- for waiting time and c test for all other comparisons. lors (clinical nurse specialists, genetic associates, etc.). Therefore only half of the centres had a ‘dedicated’ cancer genetics consul- tant and 6 had no such dedicated staff at all, including the one with RESULTS the largest catchment population. 22 of 24 regional genetics services agreed to participate. The catchment area of the participating centres covered the whole of Activity levels and case-mix Scotland, Wales and Northern Ireland and most of England, varying by region from 0.5 to 5.2 million population. These Table 1 shows the activity levels of the 22 regional centres combined. regional genetics services see individuals with a family history of Referrals came equally from GPs (49%) and hospital clinicians cancer in a total of 141 hospitals. 53 of these hospitals held clinics (47%) with a few self-referrals. Table 2 shows the breakdown of specifically for familial cancer. 58% of new-attendee consultations referrals by gender and cancer site. The mean age of referrals was 41 were held in these designated cancer genetics clinics, 25% were in years (SD = 11.5). Only 3% of attendees reported an ethnicity other general genetics clinics and the remaining 17% were in other than ‘white’ and almost half of these were ‘Jewish’ (a group known hospital clinics (e.g. breast lump diagnostic clinics). In the absence to be at greater genetic risk of breast cancer (Warner et al, 1999)). of facilities specifically for cancer families, there were 2 regions Of the new-attendee consultations, 17% of attendees had previ- where all attendees were seen in general genetics clinics. In the ously been diagnosed with cancer (i.e. were ‘affected’). Clinicians other 20 centres the number of designated cancer genetics clinics were asked to assign new attendees to one of 3 risk level categories provided per month ranged from 3 to 16 with a mean of 7.5. – in some cases this was imprecise because the clinician was The regions also varied according to whether they provided waiting for additional information before making the final clinical cancer screening (e.g. mammography) directly (3/22) or else management decision. One quarter of clinic attendees (26%) were referred on or left the clinical management decision with the categorized as ‘population level cancer risk or marginally above’. general practitioner. There was also variability in the use of family 49% were categorized as ‘risk level sufficient for screening’ and history questionnaires as part of the referral process. 7 centres sent the remaining 25% was placed in the highest risk category. Table 1 Activity in 22 NHS cancer genetics services Number in 4 Estimated Estimated number weeks number per per year per million year* population New-attendee consultations 694 8744 164 Followup consultations 357 4498 84 Home visits 74 932 17 Telephone consultations 206 2596 49 All contacts 1331 16771 315 Cancellations 98 1235 23 Failed-to-attend 146 1840 35 Referrals 872 10987 206 *Assuming 252 clinic days per year (260 weekdays minus 8 public holidays). Population = 53.3 million (90% of the UK). © 2001 Cancer Research Campaign British Journal of Cancer (2001) 85(2), 166 –170 168 D Wonderling et al Table 2 Referrals, by cancer site and sex cancer cases and 44% of familial bowel cancer were already being screened and for these the recommendation would be to discon- Referrals Male Female All tinue screening. Prophylactic surgery would be discussed with 30% of individuals estimated to be at high-risk of breast cancer Breast* 7 (1%) 526 (99%) 533 61% Bowel 43 (32%) 93 (68%) 136 16% and 19% of those at high risk of bowel cancer. Clinicians indicated Breast and bowel 1 (5%) 18 (95%) 19 2% that they would consider molecular genetic testing for 63% of Ovary 0 106 (100%) 106 12% high-risk individuals and 24% of those at moderate risk. The Other specified 12 (24%) 37 (76%) 49 6% number of tests actually carried out would be much smaller Not specified 1 (4%) 25 (96%) 26 3% All 64 (7%) 805 (93%) 869 100% because of supply constraints and because many individuals decide not to go ahead with testing after counselling (Peshkin and *Including BRCA1, BRCA2, Li-Fraumeni’s syndromes. Individual may also Lerman, 1999). include family history of other cancers but not bowel. Including FAP, HNPCC, Lynch2 syndromes. Individual may also have family history of other cancers but not breast. Individual may also include family history of other Regional variations cancers but not bowel or breast. Various cancer sites specified. Table 3 shows variations in activity between the regional cancer genetics services. Referral rates per million population varied significantly across the regions (P < 0.001) with a 5-fold differ- ence at the extreme. Likewise, there was an 8-fold difference in the number of consultations with new attendees per million population Risk management across the region (P < 0.001). Referral rates were 53% higher in 74% of attendees at marginal risk were to be discharged without those centres providing mammography directly (P < 0.001) and follow-up compared with only 12% and 5% in the middle and 75% higher in those centres with a ‘dedicated’ cancer genetics upper risk categories respectively. 25% of the middle risk group consultant (P < 0.001). The 2 centres without familial cancer and 30% of the high-risk group would be referred on to another clinics had a 24% lower referral rate (P < 0.043). Referral rates specialist. Many of these onward referrals, 50%, were for were 40% higher in those centres with the most extensive use of screening (mammography, clinical breast examination, endoscopy, pre-appointment questionnaires (P < 0.001), but they saw only etc.), a few were clearly for prophylactic surgery (mastectomy, 73% of referrals compared with 90% in the other centres. The colectomy, etc.) but for the rest it was not clear whether the referral proportion of a centre’s referrals coming from primary care varied was for screening, surgery or some other purpose. Cancer from 27% to 70% (P < 0.001). screening would be recommended for 97% of moderately There was a 13-fold difference in median waiting time across increased and high-risk individuals (continued for 47% and initi- centres (range: 4–53 weeks; P < 0.001) (Table 3), but no significant ated for 50%). For those at population risk 13% of familial breast difference in waiting time between high-risk and population-risk Table 3 Regional variations in cancer genetic activity Centre Estimated Estimated Estimated Median Proportion of number New attendees Referrals Follow-ups waiting time attendees at seen p.a. per m p.a. per m p.a. per m (weeks) low risk 19 378 353 403 26 58.3% 11 473 410 236 18 57.9% 22 113 76 0 7 37.5% 18 504 336 557 17 8.8% 16 142 95 32 44 28.6% 20 63 213 0 50 0.0% 3 196 105 14 14 33.3% 21 107 76 32 8 37.5% 6 200 298 80 29 23.1% 14 206 286 0 18 10.7% 8 168 131 16 53 22.2% 13 239 302 18 18 34.1% 4 135 204 13 19 33.3% 10 165 130 52 4 23.1% 17 264 268 309 22 31.6% 5 104 166 29 10 29.2% 1 228 252 11 19 22.9% 12 85 129 24 21 26.3% 7 & 15* 298 365 33 20 23.8% 9 227 300 269 28 20.7% 2 145 208 41 15 25.0% All 183 212 82 19 26.6% Scotland only 289 278 203 18 32.6% *Centres 7 & 15 do not have distinguishable catchment populations. Centres are arranged in ascending order of catchment size. British Journal of Cancer (2001) 85(2), 166–170 © 2001 Cancer Research Campaign A descriptive study of UK cancer genetics services 169 subjects. Neither the use of questionnaire-based referral systems nor strong evidence of regional inequality of access to a specialist the availability of specialist cancer genetics staff appeared to affect cancer genetics consultant and to genetic testing. There was no waiting time but median waiting time was 5 weeks longer (22 evidence of variation in screening recommendations, however this weeks) for the 3 centres that provided screening directly (P < 0.001). is somewhat tautological given that the moderate risk category was The proportions of attendees at different risk levels varied signifi- defined in relation to its need for screening. More important in cantly (P < 0.001), with the proportion at population level risk terms of access is the supply of screening for genetically high-risk ranging from 0 (two centres) to 58%. As GPs referred more individ- individuals, which in all but three regions is down to the individual uals at population-risk than did hospital clinicians (29% cf 18%, policies of the local screening units and surgical departments. P < 0.001), the variations in casemix between centres are partly A striking feature of the study was that referrals to and consulta- explained by the variations in the source of referrals. Centres with tions at cancer genetics services overwhelmingly involve women questionnaire-based referral systems seemed to be seeing the same and in particular those with a family history of breast cancer. This proportion of population-risk individuals as other centres. The is partly explained by the prevalence of familial breast cancer in same was true for those centres with a dedicated cancer genetics the population but must also be due to the publicity given to the consultant. breast cancer gene and to the interest in familial cancer shown by The proportion of those at elevated risk who were offered breast clinicians and geneticists over the last 2 decades. However, genetic testing varied from 0 (2 Scottish centres) to 80% across even within cancers that are not gender-specific, such as colon the regions (P < 0.001) but the advice on screening (whether to cancer, the number of women attending far outweighs the men. It initiate, avoid, continue or discontinue) did not differ signifi- is often thought that men generally under-use health services rela- cantly. Testing and screening were no more likely in centres with a tive to women but the evidence is unclear (Moynihan, 1998). dedicated cancer genetics consultant or in those that provide Women are sometimes described as the ‘guardians of family screening directly or in those without designated cancer genetics health’. The extent to which relevant genetic risk information will clinics. ‘Followup’ rates depended on screening strategy. The 3 be passed on to other family members who may be at risk is not centres providing mammography directly accounted for two thirds known. We observed, however, that only 35% of women (and 58% of all contacts with returning attendees. of men) reported that one of the reasons for attending was to find Figures for the 4 Scottish centres combined are presented sepa- out the risk of other family members. Ethnic minorities also seem rately as the Scottish service model implies less restrictive referral to be under-represented. The breakdown by gender and cancer site criteria. There were almost twice as many referrals and consulta- is remarkably similar to that of France (Sobol et al, 1999) and tions per million population in Scotland than in the rest of the UK. comparable with other European services (Hodgson et al, 1999). There were substantially more population-risk (33% c.f. 26%) and However, there was a much larger proportion of affecteds in medium-risk individuals (54% c.f. 49%). The Scottish centres France, as a result of cancer genetics being carried out by cancer reported that genetic testing was only available for research centres rather than genetics centres. Cancer genetic activity in purposes; consequently they reported that genetic testing would France (2500 new cases each year) was barely a quarter of our only be discussed with 10% of individuals at medium risk or estimate for the UK (Table 1). above compared with 73% in the rest of the UK. Achievement of service guidelines DISCUSSION There are few doctors who specialize in cancer genetics. According to the Harper Report recommendations, there should be at least 27 Access to cancer genetics services dedicated cancer genetics consultants for the population covered in All of the UK regional clinical genetics services deal with individ- this study, compared with the 11 observed. This situation is unlikely uals with a family history of cancer and only 2 of the 22 regions to change in the near future, as there is little training available for surveyed did not have designated cancer genetics clinics. Many of clinical oncologists to develop expertise in genetic counselling and these services have developed intensively over recent years and no new posts opening up in clinical genetics to meet this need. service provision compares favourably with that reported for the The report also recommended that moderate-risk cases should USA 4 years earlier (Thompson et al, 1995). usually be managed in the cancer units and primarily high-risk There is considerable variation in the resources and output of cases should be referred to the specialist genetics service. The these services. The numbers of individuals referred were propor- proportion of population-risk cases attending the regional cancer tionately greater in those regions with a ‘dedicated’ cancer geneti- genetics service ranged from 0 to 58% implying that the model has cist, direct provision of screening or questionnaire-based referral not yet been fully adopted. The extent to which population-level systems. Across the UK there was an 8-fold difference in the and moderate-risk individuals are dealt with in cancer units and number of individuals seen as a proportion of catchment population primary care must vary between regions. However, we cannot be and a 13-fold difference in waiting time, suggesting regional sure that individuals encountering these services are being inequity of access. For high-risk families, those with a pattern of managed optimally, given that most of these services are not, as cancer in their family indicating Mendelian inheritance, access to yet, under the guidance of the specialist cancer genetics service, as the clinical genetics service is a greater priority since molecular envisaged by the Harper Report. testing in this group is more likely to find a genetic mutation. This Evidence from The Netherlands suggests that cancer genetics would allow individuals at very high risk to be distinguished from practised in primary care may be less than optimal (de Bock et al, relatives at much lower risk enabling more specific management. 2001), however, research-based initiatives are underway to There were too few individuals at high-risk in this sample to effec- educate primary care staff and facilitate liaison between the tively analyse regional equity of access for this subgroup. However, genetics services, cancer units and primary care and to reduce when this group is combined with those at moderate risk there is unnecessary referrals. These include the use of computerized risk © 2001 Cancer Research Campaign British Journal of Cancer (2001) 85(2), 166 –170 170 D Wonderling et al assessment (Emery et al, 1999, 2000) or questionnaire-based Chu, Trevor Cole, Jacqueline Cook, Rosemarie Davidson, Fiona family history assessment (Leggatt et al, 1999) by primary care Douglas, Diana Eccles, Rosalind Eeles, Ian Ellis, Gareth Evans, teams. In several genetics services there are initiatives to train Jonathon Gray, Neva Haites, Shirley Hodgson, Anneke Lucassen, cancer unit nurses in genetic risk assessment and counselling. This James Mackay, Kay McDermott, Patrick Morrison, Victoria will be strengthened with the proposed introduction of Macmillan Murday, Mary Porteous, Sandy Raeburn, Michael Steel, Richard funded posts into cancer genetic counselling. Trembath and Peter Turnpenny. Scotland appears to be closer to meeting the structure of its Thanks are expressed to Kathryn Ayres for clerical support and planned service model. There are few family history clinics to Wendy Watson, Service user representative, and Hilary Harris, outside of the regional genetics service. Consequently these General Practitioner, for their advice. The Cancer Genetics Group services have more attendees than their English counterparts and of the British Society for Human Genetics (formerly the UK proportionately more population-level and moderate-risk individ- Cancer Family Study Group) is acknowledged for its support in uals. Of course, around the UK achievement of model guidelines promoting and supporting the research. may have improved since the survey was conducted. The research was funded by the NHS Research and Deve- lopment Directorate, Programme for Cancer. Appropriateness of service guidelines The Scottish Office model emphasizes the importance of a central REFERENCES referral system for all potential cases of familial cancer and access to genetic counsellors for individuals at lower levels of risk. This is Brain K et al (2000) Randomized trial of a specialist genetic assessment service for a more comprehensive but potentially more costly approach than familial breast cancer. J Natl Cancer Inst 92: 1345–1351 that proposed by the Harper Report where population-level risk de Bock GH, van Asperen CJ, de Vries JM, Hageman CHA, Springer MP and Kievit J (2001) How women with a family history of breast cancer and their general individuals are dealt with mainly in primary care and those at practitioners act on genetic advice in general practice: prospective longitudinal moderately elevated risk in the cancer unit. A recent clinical trial study. BMJ 7277: 26–27 (Brain et al, 2000) has shown that multi-disciplinary genetics Eeles RA and Murday VA (1996) The cancer family clinic. In: Eeles RA, Ponder teams were no more effective than breast surgeons at managing BAJ, Easton DF and Horwich A (Eds.) Genetic Predisposition to Cancer. cases of familial breast cancer, when effectiveness was measured London: Chapman & Hall Emery J, Walton R, Coulson A, Glasspool D, Ziebland S and Fox J (1999) Computer in terms of psychosocial outcomes. This would suggest that the support for recording and interpreting family histories of breast and ovarian Scottish model is unnecessarily reliant on the clinical genetics cancer in primary care (RAGs): qualitative evaluation with simulated patients. service although it may not be possible to generalize the results of BMJ 319: 32–36 Brain et al’s study to other regions. Furthermore, Brain et al may Emery J, Walton R, Murphy M, Austoker J, Yudkin P, Chapman C, Coulson A, Glasspool D and Fox J (2000) Computer support for interpreting family have underestimated the extent to which inappropriate resource histories of breast and ovarian cancer in primary care: comparative study with allocation occurs when clinical genetics is not utilized. Some simulated cases. BMJ 321: 28–32 centres in our study were re-evaluating individuals whose risk Expert Advisory Group on Cancer (1995) A policy framework for commissioning has previously been overestimated by nonspecialists. We found cancer services. London, Department of Health and Welsh Office that, across all regions, the geneticists were recommending that Hodgson S, Milner B, Brown I, Bevilacqua G, Chang-Claude J et al (1999) Cancer genetics services in Europe. Disease Markers 15: 3–13 screening be discontinued for 19% of population-level risk indi- Leggatt V, Mackay J and Yates JRW (1999) Evaluation of a questionnaire on cancer viduals (and be avoided for the rest of this risk group). family history in identifying patients at increased genetic risk in general Regardless of which service model is followed, it is important practice. BMJ 319: 757–758 that there is cohesion between the clinical genetics service, cancer Morrison PJ and Nevin NC (1999) Cancer genetics Services in Northern Ireland. Disease Markers 15: 37–40 units and primary care and, at the time of this study, this seems to Moynihan C (1998) Theories in health care research: Theories of Masculinity. BMJ be more evident in Scotland than in the rest of the UK. 317: 1072–1075 Murday V (1994) Genetic counselling in the cancer family clinic. European Journal Conclusions of Cancer 30A: 2012–2015 NHS Executive (2000) The NHS Cancer Plan. London: Department of Health The discovery of genes that cause elevated risk of cancer has lead to Peshkin BN and Lerman C (1999) Genetic counselling for hereditary breast cancer. a substantial increase in the number of individuals being identified The Lancet 353: 2176–2177 Ponder BAJ (1994) Setting up and running a familial cancer clinic. British Medical as having a ‘genetic disorder’. This has established a workload, Bulletin 50: 732–745 which is beyond the capacity of the UK regional genetics services. Priority Areas Cancer Team (1998) Cancer Genetics Services in Scotland. In the short term at least, most of these individuals must be dealt Edinburgh: The Scottish Office, Department of Health with by other sectors of the health service but to ensure appropriate Sobol H, Bignon Y-J, Bonaiti C, Cuisenier J, Lasset C et al (1999) Four year analysis of cancer genetic clinics activity in France from 1994 to 1997: A survey on 801 clinical management this should be under the guidance of specialist patients. Disease Markers 15: 15–29 cancer geneticists. The lack of cohesion between clinical cancer Thompson JA et al (1995) Genetics services for familial cancer patients: A survey genetics and other cancer services is more evident in England and of National Cancer Institute cancer centres J Natl Cancer Inst 87: Wales than in Scotland. Initiatives to disseminate referral and 1446–1455 management guidelines to cancer units and primary care should be Warner E, Foulkes W, Goodwin P, Meschino W, Blondal J, Paterson C, Ozcelik H, Goss P, Allingham-Hawkins D, Hamel N, Di-Prospero L, Contiga V, Serruya encouraged and adequately resources so that clinical genetics teams C, Klein M, Moslehi R, Honeyford J, Liede A, Glendon G, Brunet JS and can focus on genetic testing and management of high-risk families. Narod S (1999) Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer. J Natl ACKNOWLEDGEMENTS Cancer Inst 91: 1241–1247 Working Group for the Chief Medical Officer (1998) Genetics and cancer services. The authors wish to express their gratitude to the following lead Report of a Working Group for the Chief Medical officer, Department of clinicians and their teams for their participation in the study: Carol Health. London: Department of Health British Journal of Cancer (2001) 85(2), 166–170 © 2001 Cancer Research Campaign http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png British Journal of Cancer Springer Journals

A descriptive study of UK cancer genetics services: an emerging clinical response to the new genetics

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Publisher
Springer Journals
Copyright
Copyright © 2001 by The Author(s)
Subject
Biomedicine; Biomedicine, general; Cancer Research; Epidemiology; Molecular Medicine; Oncology; Drug Resistance
ISSN
0007-0920
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1532-1827
DOI
10.1054/bjoc.2001.1893
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Abstract

British Journal of Cancer (2001) 85(2), 166–170 © 2001 Cancer Research Campaign doi: 10.1054/ bjoc.2001.1893, available online at http://www.idealibrary.com on http://www.bjcancer.com A descriptive study of UK cancer genetics services: an emerging clinical response to the new genetics 1 2 3 4 5 4 1 D Wonderling , P Hopwood , A Cull , F Douglas , M Watson , J Burn and K McPherson 1 2 Cancer and Public Health Unit, London School of Hygiene and Tropical Medicine, Keppel Street, London, WC1E 7HT; The Cancer Research Campaign Psychological Medicine Group, Christie Hospital NHS Trust, Wilmslow Road, Withington, Manchester, M20 4BX; Imperial Cancer Research Fund, Psychology Group, Western General Hospital, Outpatient Building, Edinburgh, EH4 2XU; Department of Medical Genetics, Regional Genetics Service, 19/29 Claremont Place, Newcastle-upon-Tyne, NE2 4AA; Psychological Medicine, Royal Marsden Hospital and Institute of Cancer Research, Downs Road, Sutton, Surrey, SM2 5PT Summary The objective was to describe NHS cancer genetic counselling services and compare UK regions. The study design was a cross- sectional study over 4 weeks and attendee survey. The setting was 22 of the 24 regional cancer genetics services in the UK NHS. Participants were individuals aged over 18 attending clinics at these services. Outcome measures were staff levels, referral rates, consultation rates, follow-up plans, waiting time. There were only 11 dedicated cancer geneticists across the 22 centres. Referrals were mainly concerned with breast (63%), bowel (18%) and ovarian (12%) cancers. Only 7% of referrals were for men and 3% were for individuals from ethnic minorities. Referral rates varied from 76 to 410 per million per annum across the regions. Median waiting time for an initial appointment was 19 weeks, ranging across regions from 4 to 53 weeks. Individuals at population-level genetic risk accounted for 27% of consultations (range 0%, 58%). Shortfalls in cancer genetics staff and in the provision of genetic testing and cancer surveillance have resulted in large regional variations in access to care. Initiatives to disseminate referral and management guidelines to cancer units and primary care should be adequately resourced so that clinical genetics teams can focus on the genetic testing and management of high-risk families. © 2001 Cancer Research Campaign http://www.bjcancer.com Keywords: genetic counselling; cancer genetics services; health service organization; Calman-Hine There has been intense media publicity for cancer genetic dis- Advisory Group on Cancer, 1995). First, the role of primary care coveries, especially those relating to breast cancer (BRCA1 and would be to refer on individuals newly identified as being at poten- BRCA2), resulting in an increased public demand for information, tially high genetic risk of cancer, to follow-up existing high-risk reassurance and cancer screening. individuals and to reassure individuals at population-level risk. In the UK, most regionally based clinical genetics centres now Second, cancer units (based at district general hospitals) staffed by provide genetics clinics that are specifically for familial cancers. oncologists and surgeons with an interest in genetics, would These services often involve collaboration between clinical geneti- provide risk assessment and, if appropriate, screening for individ- cists, oncologists and other specialists. They have developed in a uals at moderately increased risk. Third, specialist genetics services variety of ways according to local expertise and funding. In addi- would be integrated into the specialist cancer centre, serving a tion, a number of other family history clinics have been set up by population of 1–2 million. This specialist service would be led by a other clinicians, such as breast surgeons, with variable levels of consultant with training in both oncology and genetics, supported training in clinical genetics. A cancer genetics service will offer or by 2 clinical nurse specialists (or one nurse and one clinical assis- recommend some of the following: risk estimation (based on tant). The specialist service would deal with high-risk individuals molecular genetic analysis or more often on family history); and would provide referral and management guidelines for the genetic risk counselling; clinical examination; screening/surveil- primary care and cancer unit teams within its region. The Harper lance for early tumour detection (mammography, endoscopy, etc); report forms the basis of the NHS Cancer Plan’s framework for information on preventative strategies (surgery, diet, etc); family cancer genetics services (NHS Executive, 2000). planning advice; and referral for psychological assessment/support An alternative service organization model has been proposed (Murday, 1994; Ponder, 1994; Eeles and Murday, 1996). for Scotland (Priority Areas Cancer Team, 1998). Unlike the In 1996, the Department of Health set up a working group on Calman-Hine scheme, there is no second tier. Instead staff from cancer genetics services chaired by Professor Peter Harper. The the regional genetics service would support staff in surveillance Harper report (Working Group for the Chief Medical Officer, 1998) units and in primary care facilities by carrying out genetic coun- recommended organization of cancer genetic services for England selling in outreach clinics. The service in Northern Ireland is and Wales in a 3-tier structure integrated with the developing 3-tier modelled on the Calman-Hine system (Morrison and Nevin, cancer service that followed the Calman-Hine Report (Expert 1999), but is developing centralized referrals mechanism, along the lines of the Scottish services. Following the identification of cancer-predisposing genes, Received 18 August 2000 the national picture of cancer genetics service activity has been Revised 29 March 2001 unclear. Reported in this paper are the results of a cross-sectional Accepted 5 April 2001 study conducted in 1998 showing the pattern of cancer genetics services across the NHS. Correspondence to: P Hopwood 166 A descriptive study of UK cancer genetics services 167 questionnaires to more than two thirds of referred individuals METHODS before deciding whether to offer an appointment. One would All regional genetics services in the UK were invited to partici- expect these centres to be seeing proportionately fewer people than pate. Procedures were explained at a training workshop to help those centres with less restrictive appointment criteria. ensure good compliance. Ethical approval was obtained through 12 of the 22 lead clinicians from the centres were aware of other the Multicentre Research Ethics Committee. cancer family history clinics within the region but outside of their During a pre-specified 4-week period cancer genetic activity in jurisdiction. They specified 13 such clinics organized by breast all participating centres was logged. Designated staff-members at screening units, 14 by breast surgeons and 2 by bowel surgeons, each centre completed report forms for every referral received, although these may represent the tip of the iceberg. In Scotland every individual attending, every telephone consultation and the clinicians reported that almost all family history clinics were every cancellation/did-not-attend. Only activity relating to organized by the regional genetics service. subjects under the age of 18 was excluded from the study. Information was requested about types of cancer/syndrome, Staffing of centres source of and reason for referral, content of consulation and risk management plan for the individual. In addition, the lead consul- In total there were 17 whole-time equivalent (WTE) consultants tant at each study centre was asked to supply general information for a total catchment population of 53 million, consisting of 11 about their service, such as catchment population size, frequency ‘dedicated’ cancer genetics consultants (those spending more than of clinics and details of staffing. Clinic attendees gave written 50% of their working time on cancer genetics) and another 46 informed consent and were asked to complete a questionnaire to consultants (mainly clinical geneticists) allocating less time. This provide mainly sociodemographic information. amounts to 0.3 WTE consultants, or 0.2 ‘dedicated’ consultants, We tested to see if the variability observed between regions per million of population. There were another 5 ‘dedicated’ cancer could have occurred by chance. The Kruskal–Wallis test was used genetics clinicians below consultant grade and 33 genetic counsel- for waiting time and c test for all other comparisons. lors (clinical nurse specialists, genetic associates, etc.). Therefore only half of the centres had a ‘dedicated’ cancer genetics consul- tant and 6 had no such dedicated staff at all, including the one with RESULTS the largest catchment population. 22 of 24 regional genetics services agreed to participate. The catchment area of the participating centres covered the whole of Activity levels and case-mix Scotland, Wales and Northern Ireland and most of England, varying by region from 0.5 to 5.2 million population. These Table 1 shows the activity levels of the 22 regional centres combined. regional genetics services see individuals with a family history of Referrals came equally from GPs (49%) and hospital clinicians cancer in a total of 141 hospitals. 53 of these hospitals held clinics (47%) with a few self-referrals. Table 2 shows the breakdown of specifically for familial cancer. 58% of new-attendee consultations referrals by gender and cancer site. The mean age of referrals was 41 were held in these designated cancer genetics clinics, 25% were in years (SD = 11.5). Only 3% of attendees reported an ethnicity other general genetics clinics and the remaining 17% were in other than ‘white’ and almost half of these were ‘Jewish’ (a group known hospital clinics (e.g. breast lump diagnostic clinics). In the absence to be at greater genetic risk of breast cancer (Warner et al, 1999)). of facilities specifically for cancer families, there were 2 regions Of the new-attendee consultations, 17% of attendees had previ- where all attendees were seen in general genetics clinics. In the ously been diagnosed with cancer (i.e. were ‘affected’). Clinicians other 20 centres the number of designated cancer genetics clinics were asked to assign new attendees to one of 3 risk level categories provided per month ranged from 3 to 16 with a mean of 7.5. – in some cases this was imprecise because the clinician was The regions also varied according to whether they provided waiting for additional information before making the final clinical cancer screening (e.g. mammography) directly (3/22) or else management decision. One quarter of clinic attendees (26%) were referred on or left the clinical management decision with the categorized as ‘population level cancer risk or marginally above’. general practitioner. There was also variability in the use of family 49% were categorized as ‘risk level sufficient for screening’ and history questionnaires as part of the referral process. 7 centres sent the remaining 25% was placed in the highest risk category. Table 1 Activity in 22 NHS cancer genetics services Number in 4 Estimated Estimated number weeks number per per year per million year* population New-attendee consultations 694 8744 164 Followup consultations 357 4498 84 Home visits 74 932 17 Telephone consultations 206 2596 49 All contacts 1331 16771 315 Cancellations 98 1235 23 Failed-to-attend 146 1840 35 Referrals 872 10987 206 *Assuming 252 clinic days per year (260 weekdays minus 8 public holidays). Population = 53.3 million (90% of the UK). © 2001 Cancer Research Campaign British Journal of Cancer (2001) 85(2), 166 –170 168 D Wonderling et al Table 2 Referrals, by cancer site and sex cancer cases and 44% of familial bowel cancer were already being screened and for these the recommendation would be to discon- Referrals Male Female All tinue screening. Prophylactic surgery would be discussed with 30% of individuals estimated to be at high-risk of breast cancer Breast* 7 (1%) 526 (99%) 533 61% Bowel 43 (32%) 93 (68%) 136 16% and 19% of those at high risk of bowel cancer. Clinicians indicated Breast and bowel 1 (5%) 18 (95%) 19 2% that they would consider molecular genetic testing for 63% of Ovary 0 106 (100%) 106 12% high-risk individuals and 24% of those at moderate risk. The Other specified 12 (24%) 37 (76%) 49 6% number of tests actually carried out would be much smaller Not specified 1 (4%) 25 (96%) 26 3% All 64 (7%) 805 (93%) 869 100% because of supply constraints and because many individuals decide not to go ahead with testing after counselling (Peshkin and *Including BRCA1, BRCA2, Li-Fraumeni’s syndromes. Individual may also Lerman, 1999). include family history of other cancers but not bowel. Including FAP, HNPCC, Lynch2 syndromes. Individual may also have family history of other cancers but not breast. Individual may also include family history of other Regional variations cancers but not bowel or breast. Various cancer sites specified. Table 3 shows variations in activity between the regional cancer genetics services. Referral rates per million population varied significantly across the regions (P < 0.001) with a 5-fold differ- ence at the extreme. Likewise, there was an 8-fold difference in the number of consultations with new attendees per million population Risk management across the region (P < 0.001). Referral rates were 53% higher in 74% of attendees at marginal risk were to be discharged without those centres providing mammography directly (P < 0.001) and follow-up compared with only 12% and 5% in the middle and 75% higher in those centres with a ‘dedicated’ cancer genetics upper risk categories respectively. 25% of the middle risk group consultant (P < 0.001). The 2 centres without familial cancer and 30% of the high-risk group would be referred on to another clinics had a 24% lower referral rate (P < 0.043). Referral rates specialist. Many of these onward referrals, 50%, were for were 40% higher in those centres with the most extensive use of screening (mammography, clinical breast examination, endoscopy, pre-appointment questionnaires (P < 0.001), but they saw only etc.), a few were clearly for prophylactic surgery (mastectomy, 73% of referrals compared with 90% in the other centres. The colectomy, etc.) but for the rest it was not clear whether the referral proportion of a centre’s referrals coming from primary care varied was for screening, surgery or some other purpose. Cancer from 27% to 70% (P < 0.001). screening would be recommended for 97% of moderately There was a 13-fold difference in median waiting time across increased and high-risk individuals (continued for 47% and initi- centres (range: 4–53 weeks; P < 0.001) (Table 3), but no significant ated for 50%). For those at population risk 13% of familial breast difference in waiting time between high-risk and population-risk Table 3 Regional variations in cancer genetic activity Centre Estimated Estimated Estimated Median Proportion of number New attendees Referrals Follow-ups waiting time attendees at seen p.a. per m p.a. per m p.a. per m (weeks) low risk 19 378 353 403 26 58.3% 11 473 410 236 18 57.9% 22 113 76 0 7 37.5% 18 504 336 557 17 8.8% 16 142 95 32 44 28.6% 20 63 213 0 50 0.0% 3 196 105 14 14 33.3% 21 107 76 32 8 37.5% 6 200 298 80 29 23.1% 14 206 286 0 18 10.7% 8 168 131 16 53 22.2% 13 239 302 18 18 34.1% 4 135 204 13 19 33.3% 10 165 130 52 4 23.1% 17 264 268 309 22 31.6% 5 104 166 29 10 29.2% 1 228 252 11 19 22.9% 12 85 129 24 21 26.3% 7 & 15* 298 365 33 20 23.8% 9 227 300 269 28 20.7% 2 145 208 41 15 25.0% All 183 212 82 19 26.6% Scotland only 289 278 203 18 32.6% *Centres 7 & 15 do not have distinguishable catchment populations. Centres are arranged in ascending order of catchment size. British Journal of Cancer (2001) 85(2), 166–170 © 2001 Cancer Research Campaign A descriptive study of UK cancer genetics services 169 subjects. Neither the use of questionnaire-based referral systems nor strong evidence of regional inequality of access to a specialist the availability of specialist cancer genetics staff appeared to affect cancer genetics consultant and to genetic testing. There was no waiting time but median waiting time was 5 weeks longer (22 evidence of variation in screening recommendations, however this weeks) for the 3 centres that provided screening directly (P < 0.001). is somewhat tautological given that the moderate risk category was The proportions of attendees at different risk levels varied signifi- defined in relation to its need for screening. More important in cantly (P < 0.001), with the proportion at population level risk terms of access is the supply of screening for genetically high-risk ranging from 0 (two centres) to 58%. As GPs referred more individ- individuals, which in all but three regions is down to the individual uals at population-risk than did hospital clinicians (29% cf 18%, policies of the local screening units and surgical departments. P < 0.001), the variations in casemix between centres are partly A striking feature of the study was that referrals to and consulta- explained by the variations in the source of referrals. Centres with tions at cancer genetics services overwhelmingly involve women questionnaire-based referral systems seemed to be seeing the same and in particular those with a family history of breast cancer. This proportion of population-risk individuals as other centres. The is partly explained by the prevalence of familial breast cancer in same was true for those centres with a dedicated cancer genetics the population but must also be due to the publicity given to the consultant. breast cancer gene and to the interest in familial cancer shown by The proportion of those at elevated risk who were offered breast clinicians and geneticists over the last 2 decades. However, genetic testing varied from 0 (2 Scottish centres) to 80% across even within cancers that are not gender-specific, such as colon the regions (P < 0.001) but the advice on screening (whether to cancer, the number of women attending far outweighs the men. It initiate, avoid, continue or discontinue) did not differ signifi- is often thought that men generally under-use health services rela- cantly. Testing and screening were no more likely in centres with a tive to women but the evidence is unclear (Moynihan, 1998). dedicated cancer genetics consultant or in those that provide Women are sometimes described as the ‘guardians of family screening directly or in those without designated cancer genetics health’. The extent to which relevant genetic risk information will clinics. ‘Followup’ rates depended on screening strategy. The 3 be passed on to other family members who may be at risk is not centres providing mammography directly accounted for two thirds known. We observed, however, that only 35% of women (and 58% of all contacts with returning attendees. of men) reported that one of the reasons for attending was to find Figures for the 4 Scottish centres combined are presented sepa- out the risk of other family members. Ethnic minorities also seem rately as the Scottish service model implies less restrictive referral to be under-represented. The breakdown by gender and cancer site criteria. There were almost twice as many referrals and consulta- is remarkably similar to that of France (Sobol et al, 1999) and tions per million population in Scotland than in the rest of the UK. comparable with other European services (Hodgson et al, 1999). There were substantially more population-risk (33% c.f. 26%) and However, there was a much larger proportion of affecteds in medium-risk individuals (54% c.f. 49%). The Scottish centres France, as a result of cancer genetics being carried out by cancer reported that genetic testing was only available for research centres rather than genetics centres. Cancer genetic activity in purposes; consequently they reported that genetic testing would France (2500 new cases each year) was barely a quarter of our only be discussed with 10% of individuals at medium risk or estimate for the UK (Table 1). above compared with 73% in the rest of the UK. Achievement of service guidelines DISCUSSION There are few doctors who specialize in cancer genetics. According to the Harper Report recommendations, there should be at least 27 Access to cancer genetics services dedicated cancer genetics consultants for the population covered in All of the UK regional clinical genetics services deal with individ- this study, compared with the 11 observed. This situation is unlikely uals with a family history of cancer and only 2 of the 22 regions to change in the near future, as there is little training available for surveyed did not have designated cancer genetics clinics. Many of clinical oncologists to develop expertise in genetic counselling and these services have developed intensively over recent years and no new posts opening up in clinical genetics to meet this need. service provision compares favourably with that reported for the The report also recommended that moderate-risk cases should USA 4 years earlier (Thompson et al, 1995). usually be managed in the cancer units and primarily high-risk There is considerable variation in the resources and output of cases should be referred to the specialist genetics service. The these services. The numbers of individuals referred were propor- proportion of population-risk cases attending the regional cancer tionately greater in those regions with a ‘dedicated’ cancer geneti- genetics service ranged from 0 to 58% implying that the model has cist, direct provision of screening or questionnaire-based referral not yet been fully adopted. The extent to which population-level systems. Across the UK there was an 8-fold difference in the and moderate-risk individuals are dealt with in cancer units and number of individuals seen as a proportion of catchment population primary care must vary between regions. However, we cannot be and a 13-fold difference in waiting time, suggesting regional sure that individuals encountering these services are being inequity of access. For high-risk families, those with a pattern of managed optimally, given that most of these services are not, as cancer in their family indicating Mendelian inheritance, access to yet, under the guidance of the specialist cancer genetics service, as the clinical genetics service is a greater priority since molecular envisaged by the Harper Report. testing in this group is more likely to find a genetic mutation. This Evidence from The Netherlands suggests that cancer genetics would allow individuals at very high risk to be distinguished from practised in primary care may be less than optimal (de Bock et al, relatives at much lower risk enabling more specific management. 2001), however, research-based initiatives are underway to There were too few individuals at high-risk in this sample to effec- educate primary care staff and facilitate liaison between the tively analyse regional equity of access for this subgroup. However, genetics services, cancer units and primary care and to reduce when this group is combined with those at moderate risk there is unnecessary referrals. These include the use of computerized risk © 2001 Cancer Research Campaign British Journal of Cancer (2001) 85(2), 166 –170 170 D Wonderling et al assessment (Emery et al, 1999, 2000) or questionnaire-based Chu, Trevor Cole, Jacqueline Cook, Rosemarie Davidson, Fiona family history assessment (Leggatt et al, 1999) by primary care Douglas, Diana Eccles, Rosalind Eeles, Ian Ellis, Gareth Evans, teams. In several genetics services there are initiatives to train Jonathon Gray, Neva Haites, Shirley Hodgson, Anneke Lucassen, cancer unit nurses in genetic risk assessment and counselling. This James Mackay, Kay McDermott, Patrick Morrison, Victoria will be strengthened with the proposed introduction of Macmillan Murday, Mary Porteous, Sandy Raeburn, Michael Steel, Richard funded posts into cancer genetic counselling. Trembath and Peter Turnpenny. Scotland appears to be closer to meeting the structure of its Thanks are expressed to Kathryn Ayres for clerical support and planned service model. There are few family history clinics to Wendy Watson, Service user representative, and Hilary Harris, outside of the regional genetics service. Consequently these General Practitioner, for their advice. The Cancer Genetics Group services have more attendees than their English counterparts and of the British Society for Human Genetics (formerly the UK proportionately more population-level and moderate-risk individ- Cancer Family Study Group) is acknowledged for its support in uals. Of course, around the UK achievement of model guidelines promoting and supporting the research. may have improved since the survey was conducted. The research was funded by the NHS Research and Deve- lopment Directorate, Programme for Cancer. Appropriateness of service guidelines The Scottish Office model emphasizes the importance of a central REFERENCES referral system for all potential cases of familial cancer and access to genetic counsellors for individuals at lower levels of risk. 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Initiatives to disseminate referral and 1446–1455 management guidelines to cancer units and primary care should be Warner E, Foulkes W, Goodwin P, Meschino W, Blondal J, Paterson C, Ozcelik H, Goss P, Allingham-Hawkins D, Hamel N, Di-Prospero L, Contiga V, Serruya encouraged and adequately resources so that clinical genetics teams C, Klein M, Moslehi R, Honeyford J, Liede A, Glendon G, Brunet JS and can focus on genetic testing and management of high-risk families. Narod S (1999) Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer. J Natl ACKNOWLEDGEMENTS Cancer Inst 91: 1241–1247 Working Group for the Chief Medical Officer (1998) Genetics and cancer services. The authors wish to express their gratitude to the following lead Report of a Working Group for the Chief Medical officer, Department of clinicians and their teams for their participation in the study: Carol Health. London: Department of Health British Journal of Cancer (2001) 85(2), 166–170 © 2001 Cancer Research Campaign

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British Journal of CancerSpringer Journals

Published: Jul 17, 2001

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