Family Practice Vol. 16, No. 4, 426-445
© Oxford University Press 1999
A systematic review of the literature exploring the role of primary care in genetic services
ICRF General Practice Research Group and
a CRC Primary Care Education Research Group, Division of Public Health and Primary Care, Institute of Health Sciences, Old Road, Headington, Oxford OX3 7LF, UK.
Emery J, Watson E, Rose P and Andermann A. A systematic review of the literature exploring the role of primary care in genetic services. Family Practice 1999; 16: 426–445.
Received 5 February 1999; Accepted 29 March 1999.
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Abstract |
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Background. In response to growing demands on genetics departments and advances in genetic medicine, it has been proposed that primary care should provide a frontline service in clinical genetics. However, there are concerns that primary care may be unwilling or ill prepared to take on this new role.
Objectives. This study aimed to review systematically the literature exploring the role of primary care in delivering genetic services, and define potential methods of supporting primary care in the provision of genetics services.
Methods. Seven electronic databases were searched. This was complemented by contacting experts in the field and handsearching reference lists. In total, 230 papers were identified, including traditional reviews, of which 96 were examined in detail. Fifty-one papers are included in this review. On account of the heterogeneity of papers identified, we conducted a qualitative synthesis of the results, focusing on five key questions.
Results. GPs accept that they have an increasing role to play in genetics, but lack confidence in their ability to do so because of limited knowledge of clinical genetics. Evidence from pilot studies of cystic fibrosis screening provides the strongest evidence for the feasibility of providing genetic services in primary care.
Conclusions. Although genetic issues currently constitute a relatively small part of the overall workload in primary care, this will almost certainly change in the light of new genetic discoveries. Educational programmes and referral guidelines, computer decision support and genetic nurse specialist outreach clinics may provide useful methods of supporting GPs in the new field of primary care genetics.
Keywords. Family practice, genetic screening, medical genetics, primary health care, review literature..
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Introduction |
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Advances in genetic medicine and increasing demands on clinical genetics departments have led to discussions about the future provision of genetic services within a variety of national health systems.1 Central to this debate is the role of primary care in delivering genetic services. Professional and government bodies have recommended that primary care provide a crucial frontline service in clinical genetics.2–4 However, the evidence on which these recommendations have been based is limited, and concerns have been expressed about how prepared primary care is to offer genetic advice.5
The aim of this paper is to review systematically research that has explored the role of primary care in delivering genetic services. Primary care has been defined as "first-contact, continuous, comprehensive and coordinated care provided to populations undifferentiated by gender, disease, or organ system".6 In the USA, however, primary care includes general internists, paediatricians, obstetricians and family physicians. Thus, in this context, the specialty of family practice is most closely aligned to the above definition of ‘primary care’.7 For the purposes of this review, the terms ‘primary care’, as defined above, and ‘family practice’ will be treated synonymously, as will ‘GP’ and ‘family practitioner’. We chose to focus on the role of primary care in single-gene disorders and the genetics of multifactorial disease. We thus excluded antenatal screening for chromosomal anomalies such as Down's syndrome since this subject has been extensively reviewed elsewhere.8
The questions this review sought to answer were as follows.
- What do GPs know about clinical genetics?
- What are the attitudes of GPs towards offering genetic services?
- What is the current situation in primary care regarding genetics in terms of workload, use of the family history and willingness to offer genetic counselling?
- What are patients' attitudes towards the delivery of genetic services in primary care?
- How can genetic services in primary care be developed and delivered?
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Methods |
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Search strategy
A search of seven electronic databases was conducted from the year of their inception to November 1998. The databases searched were: Medline, Cinahl, EMBASE, Psychlit, Cancerlit, Sociofile and Sigle. We combined sets of terms relating to two specific elements: (1) primary care, e.g. ‘primary health care’, ‘family practice’, ‘family physicians’; and (2) clinical genetics, e.g. ‘medical genetics’, ‘genetic counselling’, ‘hereditary diseases’, ‘genetic screening’, ‘cystic fibrosis’, ‘haemoglobinopathies’, ‘Tay-Sachs’. Where possible we used the appropriate indexing terms for each database. Reference lists from all potentially relevant papers were examined for additional papers. We wrote to all UK Departments of General Practice and Clinical Genetics requesting information about other published and unpublished research relevant to the review. In response, we obtained one further published report and seven unpublished papers.
Titles and abstracts of papers identified by the electronic searches were screened by one reviewer. Approximately 230 papers, including traditional reviews, were found. Full-text copies of all 96 potentially relevant papers were screened and reviewed by at least two authors. A total of 51 papers are included in the review. A full list of papers examined is available on request.
Inclusion criteria
We included primary research papers that investigated any aspect relating to the provision of genetic services in primary care, as already defined. For the papers based on primary care providers in the USA, we included only those in which there were at least 20% family physicians in the sample. Where possible we report the results specific to family physicians from these papers. Published and unpublished papers written in English and other languages were considered. Non-English-language papers were translated prior to review. The papers retrieved were heterogeneous in their focus, methods and outcomes. We therefore chose to be inclusive rather than create a strict set of methodological exclusion criteria. The principal reason for exclusion was that a paper did not meet our definition of primary care. Where the same data were reported in more than one paper, we have included these results only once, unless they contributed to a larger dataset.
Data extraction and analysis
Data were extracted and recorded on a standard pro forma by at least two authors. The key findings from each paper were agreed by discussion amongst the reviewers. On account of the heterogeneity of the papers reviewed, we performed a qualitative synthesis of the results centred on the key questions posed in the review. Where papers addressed more than one question, they have been included in each of the relevant tables.
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Results |
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The results are presented in relation to the questions asked in this review: (1) GPs' knowledge about genetics; (2) GPs' attitudes towards genetics; (3) current practice in primary care; (4) patients' attitudes towards primary care involvement in genetics and (5) delivering genetic services in primary care.
GPs' knowledge about genetics
See Table 1
. All the identified studies relating to this subject show that GPs have limited knowledge about genetics. However, most of these papers were from the late 1980s or early 1990s, and some had either small sample sizes or low response rates. Moreover, some of the surveys asked questions that were irrelevant to providing genetic services in primary care. Nonetheless, the majority of GPs surveyed did not know the carrier frequencies for cystic fibrosis or the haemoglobinopathies, nor were they aware of the indications or availability of prenatal diagnosis for a variety of Mendelian-inherited diseases.9–13 A more recent paper looking at genetic risk assessment for common cancers showed the difficulties GPs have assessing risk, with a tendency to overestimate genetic risk.14 In keeping with the papers concerning willingness to offer genetic counselling, knowledge of genetics was associated with younger age (<40 years), previous training in genetics, attending continuing medical education and involvement in obstetrics.12,15
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GPs' knowledge of genetics has also been studied indirectly by exploring doctors' awareness of the implications of specific genetic diseases for their patients. Three papers explored this issue in relationship to Huntington's disease.16–18 These surveys occurred at a time when predictive DNA testing had recently become available to individuals with a family history of the disease. All three papers demonstrate that increased exposure to Huntington's disease raises doctors' awareness of the implications of the disease for their other patients. Thus GPs with a patient with Huntington's disease were more likely to know about the availability of pre-symptomatic testing, and to know which of their other patients were at risk. Furthermore, doctors were more likely to know of individuals at risk for Huntington's disease in their practice if these individuals were related to each other, especially if they were siblings. Both the Dutch and Scottish studies may have been subject to response bias; 20% (n = 632) and 19% (n = 590), respectively, of responders had a patient with Huntington's disease, which respresents a surprisingly high prevalence. The Scottish study was conducted in the context of a local research study offering predictive testing for Huntington's disease, and thus the doctors surveyed may have been better informed about the disease than most UK GPs at the time.
One further paper relates to awareness of haemoglobinopathy screening in primary care.19 In this audit of antenatal care of 31 women at risk of having a child with a haemoglobinopathy, most women presented too late to the haemoglobinopathy counsellor to undergo first trimester prenatal diagnosis. The early referral of two multiparous women by their GP suggests that greater awareness of haemoglobinopathy screening in primary care could improve access to first trimester prenatal diagnosis in at-risk couples.
GPs' attitudes towards genetics
See Table 2.
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General involvement of primary care in genetics. . Although the papers exploring this issue span two decades and three continents, their findings were generally similar.20–22 Genetics is perceived as an important area of medicine, and there is general support for primary care playing a role in genetics. Precisely what this role should be is less clear, partly owing to concerns about lack of knowledge and the need for educational support about genetics.
GP attitudes: Mendelian diseases. . Several papers reported attitudes of GPs towards screening or testing for specific Mendelian inherited diseases. These included attitudes about the concept of screening per se and about the specific role of primary care. The surveys from the UK about cystic fibrosis carrier screening were performed in regions where routine antenatal screening in hospital existed,23 or where primary-care-based pilot screening programmes were in progress or had recently occurred.9,10 It is likely, therefore, that the doctors surveyed were better informed about cystic fibrosis screening than those in other regions in the UK at that time. However, similar results were reported in a study of GPs before the inception of a cystic fibrosis carrier screening programme.24 The same question of generalizability in relationship to the papers on Huntington's disease testing has been discussed previously.16,17
There was general approval of the concept of screening for cystic fibrosis carriers,9,10,24 but in one study this depended on the accuracy of the test.25 One paper discussed suitable times for cystic fibrosis carrier screening: whereas there was equal support for screening at birth, school, marriage or pre-conceptually, only 3% (n = 227) of GPs supported antenatal screening.24
The majority of GPs upheld the principle of haemoglobinopathy carrier screening13 and predictive testing for Huntington's disease.16,17 There was support for prenatal diagnosis and the option of termination of pregnancy for Huntington's disease, cystic fibrosis and Duchenne muscular dystrophy, and this was explained by the perceived seriousness of these conditions.11,13,16 However, there were concerns about the potential harm of genetic screening9 and whether genetic tests should be doctor- or patient-driven.16,25
Five papers suggest that GPs want to participate in cystic fibrosis carrier screening and predictive testing for Huntington's disease. Forty-one to 70% of GPs wanted involvement in Huntington's disease testing, but only 11–26% were willing to give the patient the result and provide post-test support (n = 590 and 632, respectively).16,17 Sixty-two to 67% of GPs thought general practice was an appropriate setting for cystic fibrosis carrier screening, and 45–75% wanted to offer it themselves (n = 388 and 335, respectively).9,10,23 Of the 75% who wanted to offer cystic fibrosis screening, however, only 30% (n = 251) were prepared to counsel cystic fibrosis carriers.23 In an American study, 56% (n = 211) of family practitioners were prepared to counsel a carrier couple about prenatal diagnosis for cystic fibrosis, and if they chose to play a role in genetic counselling, evidence from hypothetical scenarios suggested that they were more willing than geneticists to disclose information about genetic status to third parties without the patient's consent, and were more directive in the advice which they offered.26,27
GP attitudes: multifactorial disease. . The papers investigating primary care involvement in the genetics of multifactorial diseases similarly suggest that GPs believe they have a role to play. Although two of the papers had low response rates, there are several common underlying themes. There was general support for the principle of genetic counselling and/or screening for a family history of cancer.14,28 GPs believed that they have a role to play in genetics,29 for example, in taking a detailed family history and performing a gatekeeping function. However, only 27–39% (n = 393) felt confident in performing this role.14,30 They acknowledged the difficulty calculating and communicating risk, and felt that this was not their role.14,31 Furthermore, they were concerned about the ethical and legal implications of genetic screening.28,31 Several solutions to these potential barriers were proposed of which referral guidelines, computerized risk assessment and local genetics clinics were most frequently supported.14,28,31 Based on one study from North Carolina, family practitioners were prepared to offer BRCA testing to a wide range of women and provide advice to BRCA mutation carriers.32 However, this survey was conducted shortly after the discovery of BRCA1 and may reflect attitudes and expectations of BRCA testing at a time of considerable media attention and speculation.
Current practice in primary care
See Table 3.
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Workload implications of genetics in primary care. . The findings of six papers provide information on the current and potential workload implications of genetics in primary care. One less recent paper provides figures about haemoglobinopathy screening,13 whereas the more recent ones principally address the genetics of common disease. Based on a study of 8109 people attending for a health check, 40–50 patients aged 35–64 years in a general practice population of 2000 will have a ‘certain family history’ of one of four common cancers in a first-degree relative.33 The number of patients presenting in primary care with concerns about their family history is less clear. Figures from Oxfordshire relying on retrospective recall of consultations suggest that a median of 1.5 patients in the previous month had discussed a family history of common disease in the consultation.34 Similarly, in a university-linked health centre in Leiden, Holland, 10.6 consultations per year per 2000 patients recorded a discussion about family history of breast cancer.35 A survey of Texan primary care providers showed that 42% (n = 102) had discussed cancer genetic screening with a patient at some time, but this was based on a response rate of 29% (of whom 40% were family practitioners).28
There have been concerns that media attention about genetic issues may raise public anxiety and increase demand for genetic services. However, during a public education programme on genetics in Perth, Australia, although more than half of the local GPs referred a patient to the genetics clinic in one year, a group of 17 sentinel doctors recorded ‘minimal activity’ regarding hereditary disease in primary care.20 From this study it appears, therefore, that genetic workload in primary care is not dramatically increased by efforts to inform the public about inherited disease.
The family history in primary care. . Two studies explored the use of the family history in primary care, one in the context of a wider qualitative study about genetics in primary care. The family history serves multiple roles that are not confined to genetic assessment. In the qualitative study, cancer was perceived as principally environmental in origin and, consequently, the family history is used to explore shared environmental factors and the psychosocial background to patients' symptoms.36 The second study found that family history information is used to aid decision-making for specific symptoms37 and is also commonly used as a screening tool, but its use is erratic and uninformed. Furthermore, it is unclear how routine collection of family history information is used in primary care, for example when a patient registers at a surgery, or what the diagnostic accuracy of the family history is in specific clinical circumstances.
Genetic counselling in primary care. . Studies conducted in the USA and Norway, which investigated factors associated with family practitioners' provision of genetic counselling, found that doctors' willingness to offer genetic counselling correlates with younger age, rural practice, previous training in genetics or higher level of knowledge, patient-centredness and perceived importance of disease prevention.21,22,26,38 However, two of these studies were conducted in 1979 and were based on GPs from Arizona, USA, who were described as predominantly older, white males with conservative politics.
Patients' attitudes towards primary care involvement in genetics
See Table 4. Only two papers have investigated this subject, both of which were relatively small qualitative studies of patients recruited from secondary care. Patients shared the view that genetics is a specialist subject and that the principal role of GPs is that of gatekeeper to specialist services. In one study, there was support from patients for family history screening and anger that their doctor had not previously discussed their family history.39 Similarly, in the second study, patients had often visited their doctor on several occasions before the issue of their family history of breast cancer was fully addressed. In part, this reflects the patients' attitude that a family history of breast cancer alone was not sufficient reason to consult their GP.40
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Delivering genetic services in primary care
See Table 5
. There have been several pilot studies and one randomized controlled trial evaluating methods of delivering genetic services within primary care. Essentially they tested models of: (1) assessing genetic risk based on the family history and (2) screening for carriers of common recessive diseases.
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Family history assessment. . Four papers looked at various elements relating to the assessment of the family history in primary care. In one study, based in a single practice in Oxfordshire, patients were invited by letter to attend a clinic, run by a GP and health visitor, to discuss their family history.41 Fourteen per cent (n = 802) of those invited attended the clinic, principally because they had a family history of cancer or ischaemic heart disease, or because they were planning a pregnancy. Of these, only 7% (n = 112) required secondary care input. Immediately after the consultation, there was a significant reduction in anxiety, which returned to baseline at 12 weeks. However, the doctor involved in this pilot study had a special interest in genetics and the health visitor had previously worked as a genetic nurse specialist.
Two unpublished papers from Nottingham report on family history assessment in primary care. One showed that it is possible to train a primary care research worker to take family histories at least as well as a clinical genetic nurse specialist,42 and the second examined the psychological impact of family history screening.43 This showed a temporary increase in anxiety that dissipated after a discussion of the results of the family history screening questionnaire.
A qualitative evaluation of a prototype computer program to assess cancer genetic risk is described in one paper.44 The complexity of genetics was seen to lend itself to computer decision support, and, although the doctors found the software easy to use, there were concerns about the effect of using the program on the dynamics of the consultation.
Screening for carriers of recessive disorders. . Two papers have investigated haemoglobinopathy carrier screening in primary care. One pilot study from 1989 in a single practice in Alabama offered sickle-cell screening to all black patients who attended the practice. The paper does not provide an uptake rate for the test but identifies the problem of contacting carriers and disinterest in the test among relatives of known carriers.45
In a larger randomized controlled trial of general practices in North London, an attempt to increase requests for haemoglobinopathy screening was made through an educational intervention supported by a nurse facilitator.46 Screening requests in the intervention practices increased by 99% (n = 295), but 75% of this increase was due to changes in 4 out of 13 practices. Furthermore, the practices that agreed to participate in the trial were already making a larger number of requests for screening and had a lower proportion of ethnic minority patients than non-participating practices.
One further study based in Finland reports a pilot study of antenatal screening in primary care for carriers of aspartylglucosaminuria, a relatively common representative of the ‘Finnish disease heritage’.47 The uptake rate of the test was high (95%, n = 2077) but no other clinical outcomes are reported.
Cystic fibrosis carrier screening. . Cystic fibrosis carrier screening is the most extensively researched area in primary care genetics, following a series of pilot studies in the United Kingdom in the early 1990s. A variety of methods of offering screening to pregnant women and the general population have been evaluated.
Uptake of screening
Uptake of the screening test was a commonly used measure in the pilot studies, though it is questionable whether this should be considered as a measure of success of the test procedure. In an antenatal population in primary care, uptake rates of cystic fibrosis carrier screening have ranged from 70 to 99% (n = 433 and 76, respectively),48–50 which compare favourably with those achieved in secondary care.48 The mean gestation at which the test was offered was 8–9 weeks in primary care48,51 and 12–14 weeks in secondary care.48 With general population screening, the method of offering the test has had a significant impact on uptake. Uptake rates of 66–70% (n = 513 and 649, respectively) were achieved for opportunistic screening, in which patients attending the practice were invited to have the test while they waited. In contrast, invitation by letter to attend the practice for the test resulted in uptake rates of 10–22% (n = 852 and 739, respectively).52–54 Only one paper reported uptake for couple testing as compared with either stepwise (for antenatal screening) or individual testing (for the general population). In this study, couple testing for the general population showed uptake rates of 4% (n = 1504) and consequently was abandoned after 8 months.52
Several pilot studies were based in one or two practices only, where a lead GP with an interest in cystic fibrosis carrier screening worked.51,52,54 Furthermore, in the Welsh study, the patient populations of the two practices involved were atypical. One practice had several patients with cystic fibrosis and the second had a high proportion of professional families.52 When comparing the different methods of offering the test, the methods used were not fully randomized. Indeed, in the study in which six different methods were used, it is unclear how a particular method was chosen for a given patient.54
Patient attitudes, anxiety, knowledge and behaviour
Many papers reported outcomes relating to patients' understanding of the test and their psychological responses. Two papers presented data on 3-year follow-up of patients screened in pilot studies based in primary and secondary care. Many papers had response rates of 40–60% but the results showed consistent trends.
Most patients felt they made the right decision having the test, though this was less so for the carriers.24,49,50 In the studies of antenatal screening in primary care, women chose to have the test either because they thought that all antenatal tests were important, or because they wanted to know their cystic fibrosis status and avoid having a child with the disease.49,50
Several papers demonstrated the difficulty people had fully understanding the result of their test. The test used could detect 85% of cystic fibrosis mutations and thus a negative result meant that there was a residual risk of 1 in 160 of carrying a mutation. Seventeen to 29% of people with a negative test thought shortly after the test that they were definitely not carriers.49,52,55,56 This figure was 50% (n = 280) at 3 years in a subset of sub-jects taken from primary and secondary care screening programmes.57 Forty-two to 54% (n = 12 and 51, respectively) of carriers misunderstood their residual risk if their partner tested negative.52,56 At 3 years, 80% (n = 280) of carriers knew that they were definitely carriers.57
In terms of psychological responses to cystic fibrosis carrier screening, there was an increase in self-reported anxiety while awaiting the result,49,51 and up to 6 months after receiving the result in carriers.56 In one study there was a significant increase in State Trait Anxiety Inventory score (STAI) in carriers when they first received the result, but this had dissipated by 3 months.55 In a second study, however, no significant difference in STAI score was observed between carriers and those with a negative result at 2 weeks or 6 months.56 At 3 years there was no increase in STAI score in carriers nor any difference in anxiety according to whether screening occurred in primary or secondary care.57 However, carriers were more likely to report troubled thoughts and had a 5% lower perception of health.57,58 The clinical significance of this finding is unclear.
Two papers looked at behavioural outcomes in people who underwent cystic fibrosis carrier screening. Fifty-seven per cent of carriers (n = 51) identified in one study advised their partner to be tested and, of these, 87% (n = 29) agreed to the test.56 In the 3-year follow-up, there were no differences in reproductive behaviours or intentions between carriers and those testing negative who were planning a pregnancy.57
Economic analysis
One paper described an economic analysis of cystic fibrosis carrier screening, comparing primary- with secondary-care-based screening.59 For antenatal screening, a hospital clinic cost £5.99 less per couple screened than in primary care. Opportunistic screening in primary care was £53.77 more expensive per couple screened than hospital antenatal screening. However, in this analysis, counselling time in secondary care was not costed, and laboratory costs were greater for primary care. No justification for these differences in pricing was offered in the paper.
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Discussion |
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We have performed a systematic review of the literature exploring the role of primary care in delivering genetic services. We conducted electronic searches on a range of databases and complemented this by contacting other experts in the field and hand-searching reference lists. It is likely therefore that we identified nearly all relevant studies.60,61 Although we have reviewed a broad topic, we aimed to answer specific questions that were most pertinent to the current stage of developments in primary care genetics. This is a relatively new field, clearly illustrated by the type of research that has been performed thus far. We identified only one relevant randomized controlled trial. The bulk of research in primary care genetics is based on qualitative explorations, questionnaire surveys and pilot studies. The heterogeneity of methods and outcomes precludes pooling of the data. It is, however, possible to reach some valid conclusions and identify areas for further research by conducting a qualitative synthesis of the results.
Information on existing workload in primary care about genetic issues is limited. The prevalence of a family history of four common cancers in a first-degree relative has been reported, but how many of these people are known to their GP and their actual level of risk remain uncertain. The recent rise in referrals to genetics clinics about a family history of cancer suggests that some of these people are being discovered by their GP, but what proportion of the ‘familial cancer iceberg’ in primary care this represents is unknown. There are no reports of the prevalence of a family history of other common diseases in a primary care population. In terms of patient demand for genetic advice, two papers suggest that approximately 1–2 patients per month discuss their family history of common disease with their GP. This consultation rate compares with that for other ‘common’ diseases in primary care such as diabetes.62 The results are awaited of a prospective study in Cambridgeshire of consultations in which family history of breast cancer was discussed. As genetic medicine continues to advance, it will be important to monitor the impact of new developments on workload in both primary and secondary care.
GPs appear to have a relatively limited knowledge of genetics and, based on a small number of studies, do not appreciate the implications of genetic medicine for their patients. Their attitudes towards providing genetic services are probably a reflection of their limited genetic knowledge, since willingness to offer genetic counselling correlates with knowledge of genetics. Although there is support for carrier screening for common recessive conditions and genetic counselling for a family history of cancer, at present, most GPs only want to play a limited role in providing these services. This limited role corresponds to the activities that are familiar to them: gatekeeping, family history taking and supportive counselling. But to perform these roles effectively will require new knowledge, such as the ability to assess genetic risk on the basis of the family history. However, will simply improving GPs' knowledge be sufficient to promote genetic counselling in primary care?
Evidence from the pilot studies of cystic fibrosis carrier screening and family history clinics suggests that genetics services can be effectively delivered in primary care. But most of these studies relied on interested and well-informed primary care teams, or dedicated researchers to provide the genetic counselling. Although there were deficiencies in patient understanding of their result and initial negative psychological responses to being a cystic fibrosis carrier, these also occurred in the screening pilots in secondary care.63
The trial to increase haemoglobinopathy screening in primary care through educational visits and a supportive multidisciplinary team showed that only a minority of doctors changed their practice. Promoting change in general practice is a complex process64 that involves the primary care team, the organization in which they work and the patients for whom they care. Patients may share GPs' view of genetics as specialist, complex knowledge. The uptake of genetic screening depends heavily on how it is offered to patients, as well as the perceived importance of the disease in the community.45,65 Thus we need to know more about public understanding of genetics and the likely impact this will have on the demand for genetic advice in primary care.
Several papers report GPs' requests for referral guidelines, computerized risk assessment and genetic nurse specialist clinics. Computer decision support for genetic risk assessment is reported in one paper in this review, and is currently being evaluated in a randomized experiment. We are aware of three randomized controlled trials in progress in the UK: one evaluating an educational package incorporating referral guidelines using two different implementation strategies, and two investigating genetic nurse specialist outreach clinics.
Evidence from this review shows that family practitioners accept that they have an increasing part to play in genetics but are reticent about the precise nature of this role. This is partly due to limited knowledge of the field and concerns about the time required for genetic counselling, but it also reflects doubts about the ethical and legal implications of genetic advance. Furthermore, in the UK, at least, there is a more general concern about mounting workload in primary care. A few studies suggest that GPs who choose to counsel their patients on genetic issues may be more directive and more likely than clinical geneticists to share this information with third parties. This probably reflects the ongoing relationship that family practitioners have with their patients, and the ethos of non-directiveness amongst geneticists. Currently, it appears that relatively few patients consult their GP for genetic advice. It is unclear how this may change with continuing advances in genetic medicine and growing public awareness of genetic issues. Furthermore, if evidence accrues to support identifying individuals at increased genetic risk for common diseases, this could have a significant impact on workload. Primary care now performs many of the clinical tasks that historically were the remit of secondary care. Advances in genetic medicine may dictate a shift towards greater provision of genetic services in primary care. A research priority must be to identify the most appropriate and cost-effective models of supporting primary care in this new role. Evidence from the trials in progress should provide some valuable answers to this question.
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Acknowledgments |
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Jon Emery and Eila Watson are funded by the Cancer Research Campaign. Peter Rose is funded by the Imperial Cancer Research Fund, and an Anglia and Oxford Primary Care Research and Development Enterprise Award. Anne Andermann is funded by the Rhodes Trust. This review was funded by an Anglia and Oxford Regional R & D grant.
We would like to thank Tim Lancaster, Mike Murphy and Joan Austoker for their helpful comments on this paper, and Thomas Lund, Giok Ong and Clare Bankhead for translating the foreign language papers.
This paper is written on behalf of the Oxford Primary Care Genetics Group.
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References |
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