Abstract

Background. Given the limited specialist resources available to cope with the rising demand for genetic services, it has been proposed that at least some of these services are provided by primary care in the future.

Objective. We aimed to explore GPs' attitudes towards new developments in genetics, to establish the role they envisage for primary care and to clearly define the education, information and training needed to support them in this role.

Methods. We carried out a qualitative study with GPs using four focus groups (26 GPs) and 15 individual semi-structured interviews.

Results. GPs perceive genetics as an important and increasingly relevant topic for primary care. Views on the appropriate level of involvement for primary care are mixed. GPs currently lack the relevant knowledge and skills to manage patients concerned about their family history. Other potential barriers to increasing primary care involvement included the time and costs involved, and ethical and legal concerns.

Conclusion. If primary care is to become more involved in the delivery of genetic services in the future, then a major educational effort is required to raise awareness of the potential scope and limitations of new developments.

Watson EK, Shickle D, Qureshi N, Emery J and Austoker J. The ‘new genetics’ and primary care: GPs' views on their role and their educational needs. Family Practice 1999; 16: 420–425.

Introduction

Clinical genetics is rapidly expanding beyond the scope of the rarer, single-gene disorders to encompass some of the major common diseases.1,2 Approximately 5% of breast, ovarian and colon cancers can be attributed to dominant predisposing genes, and it is possible to identify individuals with a genetic predisposition.3,4 These tests have been much publicized, and specialist genetic services are struggling to cope with the demand.5,6

A GP with a list size of 2000 can expect to have 30–40 patients aged 35–64 years who have a first degree relative diagnosed with breast, colorectal, uterine or ovarian cancer.7 These patients may be concerned about, but not necessarily at high risk of, developing cancer. With only one or two consultant geneticists per million population, it seems unlikely there will be sufficient specialist resources to meet patient needs and anxieties in the future.8 It is increasingly being suggested that some genetic services should be provided at the primary care level.5,9 However, relatively few studies have explored GPs' own views regarding their potential role in the delivery of genetic services. Demands on GPs time are high, and most GPs lack training in this area.5

Nonetheless, GPs have previously indicated a willingness to become involved in genetic carrier screening programmes for cystic fibrosis10–12 and genetic screen-ing for common diseases.13

The objectives of this study were to explore GPs' opinions on recent developments in genetics, to establish the role they envisage for primary care and to define clearly the education, information and training needed to support them in this role.

Most published work to date in this field has relied on surveys, which are a relatively crude instrument for ascertaining professional views. Qualitative techniques can provide a more in-depth understanding of opinions,14 and hence this study was conducted using a series of focus groups and semi-structured individual interviews. Focus groups allow for group interaction, with group members influencing each other by responding to ideas and comments in the discussion,15 whereas semi-structured interviews allow for in-depth exploration of an individual's opinions. Both methods have previously been used successfully in the primary care setting.16–18

The findings from this study will help inform the development of an educational strategy for primary care on genetics.

Methods

Data was collected through focus groups and individual semi-structured interviews with GPs. The focus groups were conducted in Oxfordshire and Nottingham. Different geographical areas were selected to represent differing practice characteristics. In Oxfordshire, three groups were conducted in each of the three geographical divisions of the health district (OFG1-3). GPs were recruited by mailing a flier to local GPs and by advertisement in the local CME schedule. PGEA points were awarded to attendees. In Nottingham (NFG-4), a purposive sampling strategy19 was used, with participants recruited on the basis of a known interest in genetics (six out of seven participants had previously attended a genetics course). We aimed for 4–12 participants per group.20

The format for all groups was similar. A facilitator (EW or DS) followed a semi-structured question guide, which covered the following topics:

  • reasons for deciding to participate in the focus group;

  • perceived impact of genetics on society and, more specifically, on primary care;

  • perceived role, strengths and weaknesses of general practice in relation to the delivery of genetic services from primary care;

  • perceived opportunities and threats associated with primary care involvement in the delivery of genetic services;

  • the potential role of different members of the primary care team, and

  • educational, information and support requirements.

Each group lasted for approximately one and a half hours. A second researcher was present in all groups to take notes and observe group dynamics. Sessions were tape-recorded and transcribed. At the end of each group the researchers discussed the key issues raised. Where necessary, transcripts were supplemented by the written field notes.

The individual interviews were performed as part of an evaluation of computer support for genetic risk assessment. A purposive sample of 15 Oxfordshire GPs (OI 1–15) was recruited to reflect a range of interest in genetics, age and gender. As part of the evaluation, opinions on GPs' current and future roles in genetics were explored, as was the type of support required to expand their role.

The focus group data were assessed for emerging themes by three separate researchers, which were then agreed by discussion. The individual interview data were analysed by two researchers. The transcripts were then classified to an agreed coding framework. The themes emerging from the focus groups and interviews were compared and helped define the areas explored in subsequent rounds of data collection. We thus established that the emerging themes were valid and transferable.14

Results

Three of the focus groups were attended by 7–8 doctors each (OFG-1 and -2, NFG-4), the fourth by four doctors (OFG-3). A total of 16 males and 10 females attended, with a median year of qualification of 1980 (range 1966– 1993). The interviewed doctors (nine male, six female) had a median year of qualification of 1982 (range 1964– 1993).

The central themes within the data are discussed below and illustrated with quotations.

Attitudes towards genetics

Most participants recognized genetics as becoming an increasingly important area of clinical medicine, offering real potential for the future. It was also acknowledged that primary care will have an important role to play.

“… we can start tailoring our health prevention information to the individual as opposed to giving the same information across the board …” (NFG-4)

“… GPs really have to do more and know more about it …” (OFG-1)

However, there was some scepticism of the benefits genetics may bring.

“… I think it's not actually going to deliver the sort of promises at the moment we think there are …” (OFG-2)

and most GPs felt it was important to be fully aware of the limitations and complexities of current genetic tests.

It appeared that the term ‘genetics’ seems somewhat daunting to some GPs, conjuring ideas of complex and sophisticated technologies which are difficult to grasp and apply in practice

“… it requires a lot of very specialised know-how, quite in-depth knowledge …” (OI-7)

Potential role of primary care

Although consultations regarding family history and genetic conditions were reported as relatively uncommon in primary care (generally described as in the order of one or two per month), participants perceived an increase in demand. Participants believed GPs are well-placed to consider the family situation and to offer “continuity in families”, and that patients found dealing with their GPs more “comfortable” and “less threatening” than hospital visits. However, views were mixed regarding the potential role of primary care in the delivery of genetic services. A few participants saw primary care playing a minimal role

“… you give the patient a [family history] questionnaire and say go home and complete this and send it to genetics … on that basis you get a recommendation [from genetics] as to whether they should be referred …” (OFG-2)

Most were comfortable with the role of GP as gatekeeper and saw it as their responsibility to decide who should be referred on the basis of family history. However, they were less certain about their role in counselling the patient regarding genetic risk.

“… through some family history screening one can identify those who don't need to go any further and those I think should be weeded out at the primary care stage … anything that gets more complicated I think is very properly the area of the genetic service …” (O1-5)

“… I think someone has to have the skill and the time to listen, discuss and understand it from the patient's perspective and I'm not sure that avenue is actually in our area …” (NFG-4)

Some participants envisaged GPs playing a greater role and becoming more involved in the assessment of genetic risk and provision of genetic counselling.

“… often the pressure … is to supply more and more resources to the genetics department so that they can manage what are increasingly common problems … what I am looking for is how we get this expertise out into primary care …” (OFG-2)

One of the main difficulties participants saw with increasing involvement of primary care was the potential time involved, and how this would fit in with current GP remuneration methods which do not encourage discussion and counselling.

“… I've no idea how long a genetic history would take but if you were to add that on to the day I don't know how that would be resourced …” (NFG-4)

There was also some concern about the amount of work being placed with primary care.

“… we are (becoming) more involved with everything —it's not just genetics …” (OFG-3)

When questioned about family history taking, GPs described routine collection of this type of information, such as recording limited family history details on registration. However, often this information is not updated, and the extent to which it is used is variable. There seems to be a tendency for participants to use family history information more as a social history and generally it was described as inadequate to assess genetic risk. GPs also described more ‘specific’ family history collection activities, for example when enquiring about a family history in relation to a patient's symptoms, or prior to making a prescribing decision (e.g. hormone replacement therapy).

“… if they had some sort of bowel symptoms or something and you were trying to decide whether you should refer them or not you would ask if they had a family history …” (OFG-3)

In these cases, the family history is used as a form of genetic risk assessment to inform management decisions. A minority of GPs reported routinely using family history as a screening tool.

At present, most participants favoured a reactive approach towards family history taking, rather than pro-actively raising the issue—at least for the area of predictive testing for cancer.

“… There is quite a difference between raising people's concerns about their risk and leaving it for them to raise themselves. I have concerns about … soliciting information which raises anxiety without being able to offer some sort of intervention …” (OFG-2)

Regarding potential service delivery models, many participants felt that practice nurses could play an important role, particularly in relation to collecting routine (and opportunistic) family history information. Concerns about familial disorders may well be raised in the context of other services provided by nurses, e.g. cervical screening, well-woman/man clinics. It was recognized that patients may also discuss their family history with district nurses, midwives and health visitors. These primary health care professionals also need to be equipped with the skills for collecting family history information.

Participants saw the need for specialist genetic services to become more closely linked with primary care. There was some support for the notion of a specially trained peripatetic nurse/counsellor, particularly in rural areas.

Ethical issues

The ethical issues surrounding genetics were raised spontaneously early on in all of the focus groups. Concern was expressed about how much information patients really wanted, and that new technologies may have exceeded current prevention or treatment possibilities. GPs felt uneasy about discussing genetic risk and the possibility of genetic testing, unless they had an effective intervention to offer.

“… the question is whether the patients actually want to know as much as they might be able to know …” (OFG-3)

“… we are likely to be at a point where we can understand a great deal but do very little and that is an extremely uncomfortable position …” (OFG-2)

In addition, GPs were concerned about the potential problems family history and genetic testing information present in relation to obtaining insurance. There was a clear expectation that insurance companies would be asking about genetic risk in the near future and GPs were worried about any obligation to provide family history information. Participants felt that their patients are becoming more aware of the difficulties that they may face regarding insurance and felt uneasy about how best to advise their patients.

Knowledge, skills and educational requirements

Participants universally felt that they lacked knowledge of genetics and hence lacked confidence in coping with an increased demand for advice, often from very well-informed patients. Most had received no formal education or training in genetics, and many were unaware of what services were currently provided locally.

“… I need to know more—I feel very ignorant at this point in time …” (OFG-1)

Practical suggestions included the circulation of information summaries and a phone/fax helpline for advice or the most up-to-date information.

GPs did not feel they currently possessed the skills to take an adequate genetic family history. They indicated that they would welcome training in this area and advice on which, if any, conditions they should routinely collect family history information.

Participants expressed that they would find guidelines very helpful for assessing which patients merit referral on the basis of their family history. Some information on the rationale behind the guidelines was seen as important to assist explanations to patients, particularly if they were not at sufficiently high risk to be referred. The provision of a computer program was seen as a potentially useful aid, enabling GPs to refer only those eligible for some type of intervention.

“…pedigrees lend themselves to computer interpretation because without being a very fast mathematician you can't work out a sum from all that level of data, you need a computer program …” (OI-2)

Views were mixed regarding GPs' ability to communicate risk information. Some GPs felt they were not well trained in this area, whereas others felt much more confident.

“… GPs are probably better than many health professionals in managing uncertainty as they have to deal with it a lot—many specialists drive much more for certainty …” (OFG-1)

There was universal agreement that patients often experience great difficulty understanding risk, and acknowledgment that the way risk is presented can be an important influence on the patient.

“… You can manipulate the outcome of the consultation simply by choosing which method you use to communicate things …that seems incredibly unfair to everybody really …” (OFG-2)

It was seen as the GP's role to impart information in the manner most appropriate to the patient to enable them to make an informed choice. There was general agreement that training in the area of risk communication would be useful.

Most GPs felt that patient leaflets would be helpful, particularly for those who are not referred.

Discussion

This study indicates that GPs perceive genetics as an important topic and one which is becoming increasingly relevant for primary care. The future role of the GP could include taking family history information, discussing genetic risk, obtaining genetic tests, informing individuals of their results and their significance, and discussing possible preventive or therapeutic options.21,22 Participants readily admitted that they lacked knowledge and skills relevant to genetics and hence the confidence to manage patients concerned about their family history. Previous research has also shown that GPs lack knowledge regarding the nature of inherited disorders,23 screening procedures24 and carrier testing,11 as well as the skills to collect a genetic family history and provide genetic counselling.13

In this study, views on the appropriate role for primary care in the delivery of genetic services were mixed. The majority of GPs were comfortable with their gatekeeper role, with a smaller proportion indicating a willingness to become more involved in risk assessment and genetic counselling, providing they were given appropriate training and had adequate access to support when required.

This study of 41 GPs from two different Health Regions has allowed an in-depth exploration of GPs' opinions regarding their role in genetics, and the education and information needed to support them in this role. The Nottingham sample had previous experience of genetics and were therefore in a position to reflect in more detail on some of the issues raised. The individual interviews were purposively sampled to cover a range of levels of interest in genetics. We acknowledge that the Oxfordshire focus groups were self-selected and may have had a greater interest in genetics than the average GP. However, qualitative methods do not aim for statistical representativeness but to provide a deeper understanding of the issues explored.25 Our findings are very similar to the attitudes expressed in a questionnaire recently sent to GPs in the Lothian Region, canvassing views on their role in cancer genetics (A Fry, personal communication). We therefore believe our findings are transferable to other GPs in the UK, but this requires confirmation from other studies.

It is clear from our study that a major educational effort is required to raise awareness of the scope, potential and limitations of new developments in genetics for GPs, as well as local information on the availability of services. Until greater emphasis is placed on genetics in medical education, it is doubtful to what extent GPs can or will become involved. Education needs to take place at undergraduate level, as part of vocational training schemes and also as part of postgraduate medical education programmes. It is of particular importance that those responsible for postgraduate and continuing education are aware of developments in genetics in order that they are able to help people learn and refine the appropriate skills, as well as offer relevant educational programmes. In addition, there is a need for simple and clear written educational materials, including referral guidelines, for primary care to be developed and evaluated. We are currently undertaking this work in Oxford. Computerized family history recording and risk assessment is also being developed and evaluated as an additional information resource.

It is important that closer links between general practice and genetics departments are forged, perhaps utilizing genetic associates and specialist genetic nurses to conduct educational outreach visits.26,27 A peripatetic nurse counsellor based in primary care could perform the risk assessment and counselling in the intial stages, whilst training the primary health care team. In time, the primary health care team would be able to provide most of the services, with the nurse specialist providing support for more complex cases.

In addition to lack of knowledge, this study has highlighted a number of other barriers which should be addressed before GPs become more involved with genetics. Of major concern to GPs is the time and hence cost implications of increasing primary care involvement in genetics. Although many GPs appear somewhat daunted by genetics, in reality, they already regularly have and use some of the relevant skills such as risk assessment, communication and counselling when assessing cardiovascular disease risk and discussing Downs syndrome screening.

We believe there is a need to develop and evaluate a model for the delivery of genetic services which incorporates a realistic role for primary care and takes the views of primary health care professionals into account. Many GPs are optimistic about the promises of genetics, but there are also real concerns about some of the unique ethical, social and legal implications of genetic testing.28 It is important that primary health care professionals have the opportunity to understand adequately and discuss these issues before they embark on providing genetic services to their patients.

The Cancer Research Campaign funded Eila Watson, Jon Emery and Joan Austoker. Nadeem Qureshi and Darren Shickle received funding for this work from Trent Region.

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