Clinical Breast Cancer Genetics Patients Practitioners and Predictive Medicine

Since the late 1990's NHS genetic services, in particular clinical cancer genetics, have increasingly become prime targets for government sponsored research and investment. In April 2001, the then Secretary of State for Health gave a speech setting out the government's commitment to support an expanding genetics service in NHS, announcing a package of new investment (Milburn 2001). Ten months before that in the government's National Cancer Plan cancer genetics was highlighted as key site for investment linked, as the following extract indicates, to the rationality of 'patient' centred and 'preventative' health care:

Over the coming years our expanding knowledge of cancer genetics will have a major impact on our ability to predict an individual's level of risk of developing cancer, our ability to detect and diagnose cancer early and our ability to select treatments which are most likely to be effective. Ultimately the genetic revolution may lead to ways of preventing cancer (2000: 89).

But it is the more recent Department of Health White Paper 'Our inheritance, Our Future' (2003) which has concretised the UK government's commitment to furnishing the coming 'genetic revolution' with an announcement of £50 million for genetic research, health care and the training of medical professionals. In an era of finite resources and the ever-increasing rationalisation of health services, these policies and the promise of investment they bring tie an economic rationale to the promise of genetics, where prediction and prevention are closely allied to targeted interventions.

The situation was somewhat different 10 years before these announcements, at the time when the BRCA genes were identified in the mid-1990s. Although most regional genetics services now have designated cancer genetic clinics, this has been a relatively recent development. Up to 1996 genetics services in the NHS were mostly focused on rare and single gene disorders. As such the system for the provision cancer genetic services was somewhat ad hoc and the boundaries blurred between what constituted research and what might be seen as health service provision (The Harper Report 1996;Coventry and Pickstone 1999;Palladino 2002). For example, as Wonderling et al. point out, at this time there were a number of family history clinics dealing mostly with breast cancer in cancer departments in large hospitals. These were often funded by specific research programmes or had been set up by breast surgeons responding to patient inquiries (2001). Regional genetics services did see cancer genetic patients at this time also, but were only funded in a few cases to specifically cover cancer genetics. Nonetheless a report published in 1996, a year and a half after the 'high profile' discovery of two breast cancer susceptibility genes, suggested that in a third of genetic centres, cancer related inquiries had come to constitute over 20 per cent of all referrals (Royal College of Physicians 1996). Even at this time, as Parthasarathy notes in her examination of the regulatory processes that brought cancer genetic services into being in the UK, 'demand' was seen as a 'problem that had to be solved'(2005: 29).

Partly in response to inconsistencies in referral practice, the uneven funding structure as well as the significant increase in referrals, an expert working group was set up which made some of the first recommendations for a core service in cancer genetics in England and Wales (The Harper Report 1996). In her examination of these developments Parthasarathy points out how the committee who produced this report, 'capitalizing' on the recent re-organisation and commissioning of NHS cancer care outlined in the Calman-Hine report a year earlier, fought to ensure that cancer genetic services were an 'integral part of these developments' linked to a 'preventative' approach (2005). The Harper Report recommended that purchasers should ensure that these services could be supported by contract funding rather than the insecure research funds that many depended upon at the time. It also suggested that although the service should be seen as a 'partnership' between clinical genetics and oncology services, there should also be a movement to increase the numbers of dedicated cancer geneticists. Following a pattern outlined in the Calman-Hine report, the group recommended a 'triage' model that would provide a co-ordinated service at three different levels, linking primary care with cancer screening units in district or general hospitals and specialist cancer genetic clinics. It recommended that primary care would be the focus for reassuring those at 'low' or no increased genetic risk. Cancer screening units would respond to the needs of those at 'moderate risk' and those at 'high risk' would be seen by specialist cancer genetic clinics, thereby restricting the offer of genetic testing to those who fell into the high risk category.

A study of referrals to regional cancer genetics services (Wonderling et al. 2001) suggested that the ad hoc system had begun to change in the late 1990s, when it was noted that nearly all regional genetics centres had dedicated cancer genetic clinics. But this study, a survey involving 22 regional genetic centres in the UK, also noted the extent to which breast cancer had come to dominate most clinical appointments. It found that these constituted not only 63 per cent of all referrals, but that over 80 per cent of these were from currently healthy women (only 7 per cent were from men). More importantly the report pointed out that large numbers, (approximately 25 per cent) of those getting to the newly established cancer genetic clinics for breast cancer risk assessment, were 'inappropriate', involving women at low or moderate risk on the basis of their family history (see also NICE 2004;CMGS Audit 2004-2005).

It is clear from this data that maintaining the tertiary system for managing referral practice, in relation to the development of cancer genetic services for breast cancer recommended in The Harper Report (1996) and the more recent NICE guidelines (2004), has not necessarily been easy. In fact defining and implementing the guidelines for those women with an increased risk of breast cancer has been a subject of much debate and to a certain extent ongoing public and professional 'misunderstanding'.1 The 'confusion' over guidelines and the challenges associated with referral practice cannot however be separated from the way that the 'risks' associated with BRCA genes have been and continue to be an evolving and moving target (Antoniou et al. 2003). A shifting terrain of medical knowledge which is examined more closely in Chapter 2.

The somewhat ad hoc emergence of cancer genetic services in the NHS are also, perhaps not surprisingly, reflected in the way they have developed in the two settings where I carried out my research.

The cancer hospital where I began my fieldwork is one of largest cancer centres in Europe seeing over 30,000 patients a year who are referred from all over the UK. It is recognised as a centre for excellence in terms of the treatment of rare and common cancers and the research or training of health care professionals. The current location of the cancer genetic clinic, which runs alongside a more long-standing family history clinic, is a result of recent hospital and other investment from a number of clinical trials that have been set up. These have been and continue to be undertaken as part of a larger medical arena dealing with the diagnosis and treatment of breast cancer - the Breast Diagnostic Unit (BDU). Importantly the whole unit was also originally part of a so-called 'well woman clinic' catering mainly for the needs of local women to whom it had, in the past, provided advice as well as routine mammography screening and cervical smears. Although its remit has now expanded beyond a localised approach, the gendered ethic of care and ethos of rights historically associated with this kind of community-based initiative targeted at women, is something that continues to be felt in the work of the clinicians who now work in and occupy this space. Threatened with closure 15 years ago the unit was saved, if somewhat transformed, by undertaking clinical trials and providing services mainly to those with a family history of breast cancer. This is still one of the main focuses of the family history clinic which is run mostly by specialist nurses and provides regular examination, monitoring and mammography for those with a number of affected relatives in their family, who may or may not be taking part in trials. The more specialist cancer genetic clinic, where several consultant oncologists trained in genetics work, along with a number of nurse specialists and some parttime locum GP's, monitors those at 'higher' genetic risk. This clinic also sees new referrals - a group which had increased several fold in the few years prior to my fieldwork in the hospital.

By contrast, the cancer genetic clinic at the large general teaching hospital, where I also carried out a somewhat smaller piece of research, has evolved in a different way. Paralleling in many ways the history of the UK genetic services outlined by Coventry and Pickstone (1999), the clinic is a relatively recent but growing addition to a larger regional genetics unit. Here clinical management, laboratory research and diagnostic testing have long been linked in addressing what had, until the mid to late 1990s, been mostly a wide range of somewhat rarer single gene or monogenetic conditions. As a result, unlike the cancer hospital, the cancer genetic service in this setting was less directly connected to an integrated cancer services. Although oncology clinics operated in the hospital, they were somewhat at a remove from cancer genetics. The cancer genetic clinic runs two days a week from a fairly generic clinical space, where there is nothing to identify this medical speciality with cancer, breast care or genetics. Like the cancer hospital, though, there is a family history clinic which monitors follow-up patients or those involved in research, run in this case by a locum GP. The more specialist cancer genetic clinic sees new referrals or those identified at high risk or who are undergoing testing. It is run by a nurse specialist and a number of clinical geneticists.

In both hospitals patients are referred to the cancer genetic clinics in a variety of ways. Although in an earlier period patients may have been able to self refer (Parthasarathy 2003), most new requests for referral now come from GPs. But letters might also come from breast screening units or family history clinics in the same or other hospitals. On receipt of such requests letters would be sent to patients either offering them an appointment or conversely explaining why they do not meet the criteria for referral.

Examining the development of cancer genetic services in France, Bourret demonstrates how regulatory practices and guidelines are 'actors' in sustaining this new and expanding field of medical intervention (2005). The chapters in the first part of this book illustrate the importance of situating such policies in relation to a more expansive set of 'actors and networks'. These encompass not only a specific regulatory yet evolving culture of national health provision, pre-existing and differently institutionalised clinical specialisms such as oncology or genetics, but also the 'activism' and investment of patients.

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