A randomized trial of specialist genetic assessment: psychological impact on women at different levels of familial breast cancer risk

The aim was to compare the psychological impact of a multidisciplinary specialist genetics service with surgical provision in women at high risk and those at lower risk of familial breast cancer. Women (n=735) were randomized to a surgical consultation with (trial group) or without (control group) specialist genetic risk assessment and the possible offer of presymptomatic genetic testing. Participants completed questionnaires before and immediately after the consultation to assess anxiety, cancer worry, perceived risk, interest in genetic testing and satisfaction. Responses of subgroups of women stratified by clinicians as low, moderate, or high risk were analyzed. There were no significant main effects of study intervention on any outcome variable. Regardless of risk information, there was a statistically significant reduction in state anxiety (P<0.001). Reductions in cancer worry and perceived risk were significant for women at low or moderate risk (P<0.001) but not those at high risk, and satisfaction was significantly lower in the high risk group (P<0.001). In high risk women who received specialist genetic input, there was a marginally significant trend towards increased perceived risk. The effect of risk information on interest in genetic testing was not significant. Breast care specialists other than geneticists might provide assessments of breast cancer risk, reassuring women at reduced risk and targeting those at high risk for specialist genetic counselling and testing services. These findings are discussed in relation to the existing UK Calman-Hine model of service delivery in cancer genetics. DOI: 10.1038/sj/bjc/6600051 www.bjcancer.comCopyright 2002 The Cancer Research Campaign     

Patient satisfaction with two different models of cancer genetic services in south-east Scotland

There is a need to integrate primary- and secondary-care cancer genetic services, but the most appropriate model of service delivery remains unclear. This study reports patients' expectations of breast cancer genetic services and a comparison of their satisfaction with two service models. In the first model, risk assessment was carried out using mailed family history data. Women estimated as being at high/moderate risk were offered an appointment at the familial breast cancer clinic, and those at low risk were sent a letter of reassurance. In the second model, all women were seen by a genetic nurse specialist, who assessed risk, referred high/moderate-risk women to the above clinic and discharged those at low risk. Over 60% of all women in the study regarded access to breast screening by mammogram and regular check-ups as very important. This underlines the demand for a multidisciplinary service providing both clinical genetic and surgical services. Satisfaction was high with both models of service, although significantly lower among women not at increased cancer risk and thus not offered a clinical check-up and mammography. Increased cancer worry was associated with a greater expressed need for information and for reassurance through follow-up clinical checks and mammography. Better targeting of counselling to the expressed concerns and needs of these women is required to improve the service offered. GPs and patients expressed no clear preference for any specific service location or staffing configuration. The novel community service was less expensive in terms of both staff and patient costs. The potential to decrease health staff/patient contact time and to employ nurse practitioners with both clinical genetic and oncology training should be explored further. The rapidly rising demand for these services suggests that the evaluation of further new models needs to continue to be given priority to guide the development of cancer genetic services.     

Cancer genetics in rural primary care: a pilot nurse-led service using a new mobile IT system

Somerset has a relatively high incidence of cancer. The county is very rural with pockets of deprivation and sizeable areas of poor access to services. The Cancer Plan advocates early identification of cancer and identified the genetic revolution as having the potential to predict risk, and detect and diagnose cancer early. This innovative Public Health led pilot takes specialist cancer genetics services into primary care. It explores a new service model that is patient focused, provides services close to home and reduces hospital visits and pressure on genetics departments. People who believe they are at increased risk of developing cancer, due to family history, are assessed by nurse specialists at their local surgery and triaged into population, medium and high risk groups. Patient pathways have been streamlined for breast, ovarian and colorectal cancers, which are known to have a genetic link and there may be advantage in increased surveillance and/or genetic testing. People are given the opportunity to understand their personal level of risk and make choices about lifestyles and interventions. To support the delivery of cancer genetics services in primary care a bespoke software package has been developed building on a commercial programme already established in many genetics departments. Electronic transmission of pedigrees from primary to tertiary care assists the lean pathways and the incorporation of a new risk calculator based on NICE guidelines for familial breast cancer is being assessed.     

Practical aspects of delivering hereditary cancer risk counseling

The primary element involved in the practical delivery of hereditary cancer risk counseling is the development of a cancer genetics service. This service should involve a multidisciplinary core of specialists, aim to identify at-risk individuals and their families, and provide comprehensive genetic counseling with the option of genetic testing. This article examines the development of a cancer genetics service beginning with the fundamentals of patient ascertainment, location, staffing, and billing. It also reviews the elements involved in the provision of genetic counseling services, including formalized risk assessment and risk communication. Finally, we review novel modes of delivery of genetic counseling including the use of telephone counseling and telemedicine as a means of expanding the scope of this service and extending its reach to individuals who might otherwise not have access to a risk assessment clinic. Overall, this presentation can serve as a resource for identifying the practical aspects involved in the delivery of hereditary cancer risk counseling and their subsequent integration into the workings of a proficient cancer genetics service able to identify and serve at-risk patients and their family members.     

Genetic services for familial cancer patients: a follow-up survey of National Cancer Institute Cancer Centers.

PURPOSE: Anecdotal reports suggest that the volume of services offered to individuals concerned with hereditary cancer risk has increased substantially in recent years. As a follow-up to our 1993 survey, we sought to determine how the scope and volume of genetic services has changed between 1993 and 2002. METHODS: We surveyed the 61 National Cancer Institute-designated cancer centers in operation in 2002 using an updated version of the questionnaire from 1993. Analysis included frequencies and summary statistics. RESULTS: The majority of cancer centers responding (46 of 56 centers; 82.1%) provided some genetic services for evaluation of familial cancer, which is a higher proportion than in 1993 (50%; P < .01). Almost all centers (42 of 46 centers; 91.3%) provided services not only to cancer patients and their families, but also to individuals concerned with risk, which is a change (P = .01) from 1993, when 64.7% of centers offered such services. In addition, increases have been found for most other measures of services rendered for familial genetic services. CONCLUSION: As public awareness of cancer susceptibility genes has grown markedly in recent years, the demand has also grown for genetic services to assess familial cancer risk. Major deleterious genetic mutations are rare, and much of the current research in genetic variation focuses on higher prevalence variants that carry lower risks. This may suggest that testing for mutations will move from genetics clinics to primary care and specialty practices. Thus, it is unclear whether the scope and volume of cancer center genetics services will continue to grow as rapidly as they have over the last decade.     

Will Cancer Risk Assessment and Counseling Services Survive Genetic Testing?

With the availability of genetic testing to detect increased hereditary susceptibility to breast and other cancers, Cancer Risk Assessment and Counseling services have come to be viewed by many primarily as a means of obtaining genetic testing and hereditary risk information. The public and healthcare professionals need to be aware that even when genetic testing is not used or is uninformative, families with and without a strong family history of cancer will benefit from Cancer Risk Assessment and Counseling if the process includes assessment of cancer risk, information about cancer etiology, help in dealing with the psychosocial consequences of the cancer experience, and development of emotional and medical coping strategies. Risk assessment services can best serve concerned individuals and their families when sufficient time is allotted for these primary aims, and when genetic testing is seen as one of the useful tools, not the primary goal of such services.     

Cancer genetic predisposition: information needs of patients irrespective of risk level

Increased insight into the information needs of people about cancer genetic predisposition could allow materials to be developed to improve decision-making for those at high risk, whilst those at lower risk could have their anxiety reduced without the need for referral to genetics services. This study aimed to identify information needs of patients concerned about a genetic predisposition to cancer, and explore how this varied according to risk perception, cancer worry, personal motivation and demographics. Stage 1 used semi-structured telephone interviews pre and post participants’ genetic risk assessment. The findings informed stage two, a structured questionnaire survey of 1,112 patients, pre and post their genetic risk assessment. Participants were stratified by risk level and included those concerned about an inherited predisposition to breast, ovarian or colorectal cancer. About 512 (46%) responded with equal proportions of responders and non-responders across the risk categories. Findings indicated that irrespective of a person’s actual or perceived level of risk, cancer worry, demographic background or personal motivation; priorities in the type of information required were similar. Greatest emphasis focused on information provision about how risk was assessed. Least important was acquiring an understanding about genes and inheritance patterns. Most participants reported difficulties accessing or finding information. Peoples’ information needs are consistent irrespective of their risk level and therefore generalised information packages could be developed for anyone requesting cancer genetic risk assessment. Better information is likely to assist patients’ understanding and ultimately increase concordance with recommended screening and preventative measures.     

Psychosocial impact of the lack of information given at referral about familial risk for cancer

We aimed to identify patient' information and communication needs irrespective of their risk level, when they are referred for genetic risk assessment and genetic counselling for a predisposition to cancer. Semi-structured telephone interviews were conducted with a purposive sample of individuals referred to a clinical genetics unit for a risk assessment of their genetic predisposition to either breast, ovarian or colorectal cancer and stratified by their level of risk. Triangulation was achieved by focus groups conducted with specialist genetic health professionals. Twenty-three participants were interviewed pre- and post-genetic counselling or risk assessment. A further 11 completed a single interview, five pre-assessment and six post-assessment. Three focus groups were conducted with the genetic health professionals. The results showed that many participants were unaware they had been referred for genetic counselling and as a consequence they felt this caused difficulties in coping with the genetic risk information received. Health professionals corroborated these findings of people's lack of awareness about their referral. This work raises important questions about the psychosocial consequences of inadequate information provision at the point of referral by clinicians in primary and hospital-based healthcare that are responsible for referring the majority of people to clinical genetics units.     

Patient preferences and National Health Service costs: a cost-consequences analysis of cancer genetic services

The study has three aims; firstly to establish if, having been informed of their risk status and that gene testing is inappropriate for them, low and moderate risk patients have misunderstood or failed to grasp this and want a test that is inappropriate for them. Secondly, to elicit patients’ willingness to pay for cancer genetic services. Thirdly, to ascertain the aspects of cancer genetics services that are important to high risk patients and present service configurations prioritised in terms of preferences accompanied by their costs (cost-consequences analysis). Patient preferences were gathered from 120 patients returning a self-administered discrete choice questionnaire issued post genetic risk assessment. Patients at low and moderate risk of developing breast cancer desired inappropriate testing. Patients at high, moderate and low risk of developing genetic cancer were willing to pay up to ￡3,000 for genetic serviced, which exceeds the current estimated cost of providing testing and counselling. Counselling by a genetics associate accompanied by favourable levels of other attributes provided high utility and substantial cost savings.     

Genetic counseling and clinical cancer genetics services

Cancer genetic services, typically provided by clinicians with expertise in both oncology and genetics, include cancer risk assessment and education, facilitation of genetic testing, pre-and post-test counseling, provision of personally tailored cancer risk management options and recommendations, and psychosocial counseling and support services. All oncology providers should obtain basic information on the family cancer history of their patients to determine the likelihood of hereditary cancer risk as well as possible indications for providing brief or comprehensive cancer genetic counseling. Those who choose to provide these services themselves must be familiar with the complex issues of genetic counseling and testing, and be aware of the time and expertise required to adequately deliver these services. Genetic nurses and genetic counselors with master's degrees function as valuable members of a comprehensive cancer genetic service; they are trained to independently collect and confirm medical and family history information, perform risk assessments, offer patient education regarding cancer and genetics, and provide supportive counseling services for patients and families. It is hoped that specific risk interventions will significantly reduce morbidity and mortality from familial forms of cancer. This review outlines the process of cancer genetic counseling and defines the roles of the cancer genetic counselor and the function of the cancer genetics specialty clinic. The possible medical and legal implications for failing to obtain adequate family history information are reviewed, and the issues of genetic discrimination are discussed.     

An exploration of the communication preferences regarding genetic testing in individuals from families with identified breast/ovarian cancer mutations

The responsibility for informing at-risk relatives of the availability of genetic testing for breast/ovarian cancer gene (BRCA1 or BRCA2) mutations currently falls on the probands. This study explored the support needs of individuals from families with identified BRCA1 or BRCA2 mutations when communicating about genetic risk and genetic testing with at-risk family members. Thirty-nine semi-structured telephone interviews were conducted with individuals from families with identified BRCA mutations. Interview responses were cross-tabulated by sample characteristics using the qualitative research analysis software NVivo8. The development of educational materials, which individuals could use when communicating the risks of carrying a BRCA gene mutation with their relatives, was identified as a specific need. Many participants expressed a preference for a staged approach, where relatives are notified of their increased risk and the availability of genetic testing risk either face-to-face or via a letter, with additional educational sources, including brief written information or access to a website, made available for those wishing to access more in-depth information. This research identified a need for the development of educational/informational resources to support individuals with identified breast/ovarian cancer mutations to communicate with their at-risk relatives about genetic risk and genetic testing availability.     

Nurse-led cancer genetics clinics in primary and secondary care in varied ethnic population areas: interaction with primary care to improve ascertainment of individuals from ethnic minorities

Genetic services are receiving increasing numbers of referrals of people with a family history of cancer for assessment of genetic risk, and therefore need to find cost-effective ways of meeting this rising demand. General Practitioners (GPs) are known to be reluctant to take on genetic consultations. Current evidence suggests that black and ethnic minorities are poorly represented in cancer genetics clinics. Nurse-led clinics in primary care have been found to be successful. This paper reports a pilot study to test the feasibility, accessibility, and effectiveness of providing cancer genetics nurse-counsellor clinics in primary and secondary care in the SW Thames Region. We initially set up three nurse-led clinics in general practices and two in district hospitals with very different ethnic catchment areas. The service was advertised by displaying posters and leaflets, translated into different languages. Self-referrals were encouraged. We set up a user involvement sub-group and held two focus group meetings to assess barriers to, and satisfaction with, the service. A patient satisfaction questionnaire was designed and administered after the appointments. We also designed a GP satisfaction survey regarding the service. Data on referrals, including their source and outcome, were recorded on a purpose-designed study database. We received increasing numbers of referrals to all clinics over the course of the pilot. Of 137 referrals, 23 (17%) were from ethnic minorities, of whom 17/23 (74%) were self-referred, compared with 102 British White referrals, of whom 91/102 (89%) were self-referred. Sixty-two patients (45%) were assessed to be at population risk and reassured, 60 (44%) were at moderate risk, and 15 (11%) were at high risk and were referred on for appropriate management. These proportions were similar for black and ethnic minority patients. Most patients reported high satisfaction with the service.     

Randomized trial of a specialist genetic assessment service for familial breast cancer

BACKGROUND: Because of the growing demand for genetic assessment, there is an urgent need for information about what services are appropriate for women with a family history of breast cancer. Our purpose was to compare the psychologic impact and costs of a multidisciplinary genetic and surgical assessment service with those of current service provisions. METHODS: We carried out a prospective randomized trial of surgical consultation with (the trial group) and without (the control group) genetic assessment in 1000 women with a family history of breast cancer. All P: values are from two-sided tests. RESULTS: Although statistically significantly greater improvement in knowledge about breast cancer was found in the trial group (P: =.05), differences between groups in other psychologic outcomes were not statistically significant. Women in both groups experienced statistically significant reductions in anxiety and found attending the clinics to be highly satisfying. An initial specialist genetic assessment cost pound 14.27 (U.S. $22.55) more than a consultation with a breast surgeon. Counseling and genetic testing of affected relatives, plus subsequent testing of family members of affected relatives identified as mutation carriers, raised the total extra direct and indirect costs per woman in the trial group to pound 60.98 (U.S. $96.35) over costs for the control subjects. CONCLUSIONS: There may be little benefit in providing specialist genetics services to all women with a family history of breast cancer. Further investigation of factors that may mediate the impact of genetic assessment is in progress and may reveal subgroups of women who would benefit from specialist genetics services.     

Referrals of patients to colorectal cancer genetics services in south-east Scotland

The discovery that genetic factors are involved in the aetiology of colorectal cancer, has prompted many relatives of affected individuals to seek genetic counselling and screening. This paper describes the demand for genetic services by families with colorectal cancer in south-east Scotland, their expectations and views of the service offered. The annual referral rate over the 21-month study period, for patients with a family history of colorectal cancer, was 0.11 per 1000 patients on general practitioner lists. This is one third of the rate for patients with a family history of breast cancer and in comparison with the breast cancer group, relatives of colorectal cancer patients were significantly older and less socially deprived. Approximately one third were referred via a hospital specialist unit. One hundred patients were included in the study. Mean (± standard deviation) age was 43 (± 10.7 years), 75 were female and 31 were self referrals. Before the consultation, almost half the patients had an inflated perception of their risk and there was little change at follow-up. There was an improvement in objective understanding after counselling which was sustained up to 6 months but only two thirds remembered their objective risk accurately. Most patients were satisfied with the consultation. Our findings suggest the need to educate individuals, in particular men, younger people and the more socially deprived, about the relevance of a family history of colorectal cancer and to facilitate patients’ comprehension of their risk status.     

Cancer screening and genetic counseling

Familial predisposition to cancer has been recognized for many years. The discovery fifteen years ago of some of the genes that are involved in the heritance of very common malignant diseases, like breast and colorectal cancer, has represented a major advance, and a challenge, for cancer prevention. Colorectal cancer is the first incident malignancy in our population, and breast cancer can affect 1 in 12 women in some European countries. There are several models that calculate the risk of cancer based on personal conditions or familial history. Testing for genes related to hereditary cancer allows the selection of individuals who will really benefit of prevention measures in such high prevalent diseases. The majority of these genes belong to the category of tumor suppressor genes, a second genetic hit is always needed for tumor developing. Epigenetics, defined as the factors that modulate the penetrance of a genetic disease, play an important role in hereditary cancer predisposition. Due to the complexity of genetics and clinical management of the hereditary cancers, all individuals with risk should be seen at Cancer Genetic Counseling units or Cancer Family Clinics. The clinicians that work in these Units should have special training in genetic counseling, cancer genetics and hereditary cancer management. Cancer Genetic Counseling is a communication process in which genetics, medical and psychological issues related to hereditary cancer risk development and prevention options are discussed with the individuals and families. Counseling must not be biased, and individual autonomy must be protected. A collaborative model between counselor and patient is preferred, and all the following points should be included in the informed consent process: options for risk estimation if genetic testing is not done,information on the specific test (accuracy, limitations), interpretation of all possible test results, implications of results for the individual and family, confidentiality issues, risk of psychological distress, options for care after testing and limitations. Some ethical and legal issues arise in the global processes of cancer genetic counseling that must be recognized and taken in account. Many questions have still not answers in this field. Nonetheless, it would be inappropiate to dismiss the potential benefits of genetic counseling as a reaction to sporadic uncritical application of genetic testing. This paper will review the genetic basis and the opportunity for screening and prevention of the hereditary predisposition to cancer, mainly focused to breast, ovarian and colorectal cancer.     

Cancer genetics services: a systematic review of the economic evidence and issues

This paper systematically reviews the published economic research upon cancer genetics services for families at risk of having familial breast, ovarian or colorectal cancer. A structured search was made of 15 electronic databases. The search identified 1030 papers, of which 31 fulfilled the inclusion criteria, two were cost-benefit studies, five were cost consequences, four were cost-effectiveness studies, one was a cost analysis, two were cost-minimisation studies, one was a cost-utility study, 10 modelled life years and six were reviews. Modelling studies indicate that surveillance, prophylactic and chemoprevention techniques extend survival for carriers of identified mutations. Genetic testing has been estimated to cost 70-2400 USD [48-1591 UK pounds] and genetic counselling 129-800 USD [89-551 UK pounds]. The technology of genetic testing has been found to be cost effective. Cost effectiveness was particularly influenced by targeting genetic services for patients with a strong family history of cancer rather than screening the entire population. Future economic evaluation must go beyond merely assessing health outcomes and mutation identification, and account for the impact of genetic services upon the individual, the family and society, establish the value of services to these groups and determine the most effective ways of delivering genetic services.     

Ethical obligations and counseling challenges in cancer genetics

Cancer genetics is creating new practice opportunities in medical genetics, oncology, and primary care. The ethical and counseling challenges of this new area of practice are not unique but sometimes take new form in the context of genetic risk. This article uses cases to explore the issues associated with shared family risk, including competing concerns of family members, duty to warn relatives of genetic risk, and testing of children and other relatives. The ethical obligations of clinicians start with the need to maintain competence in the face of rapidly evolving science. Clinicians should be able to identify patients within their practice who are candidates for genetic testing. When genetic susceptibility to cancer is identified, patients should be offered counseling and follow-up, with referral as appropriate, to ensure delivery of care consistent with current standards. When patients experience barriers to needed health care, clinicians should advocate for their needs. Clinicians must ensure the autonomy and informed decision-making of all members of cancer-prone families. Clinicians must also provide emotional support and accurate information about cancer risks and cancer risk reduction measures, including uncertainties. Teamwork among different specialties is important in addressing these challenges.     

Inequality of use of Cancer Genetics Services by members of breast,ovarian and colorectal cancer families in South East Scotland

Some studies have found a deficiency of male, younger and more socially deprived individuals amongst referrals to and/or attendees at cancer genetics clinics. We investigated this inequality of use of genetics services from data on 4,178 Scottish patients with a family history of breast and/or ovarian cancer (BOC) or colorectal cancer (CRC) referred from 2000-2006. Some 98% BOC and 60% CRC referrals were female. Median age of female referrals was greater in the CRC than the BOC group (45.3 vs. 38.7 years, P < 0.001). Both groups of referrals were less socially deprived than the general population (P < 0.001) and the CRC less deprived than the BOC group (P < 0.001). Some 88% patients attended the first appointment offered. Attendance was greater in the CRC group (P < 0.001) and in older patients (P < 0.001) and in the BOC group was highly significantly lower in more socially deprived patients (P < 0.001). Male relatives may feel counselling is less relevant and relatives of both sexes may delay counselling until approaching the age of onset of cancer in a relative. We suggest that medical professionals and the general public may have more knowledge about the genetics of BOC than of CRC. Thus relatives in CRC families seeking counselling are likely to be those with access to more information. The lower attendance amongst more deprived relatives in BOC families may result from poor understanding of the reason for referral. These findings confirm the need to provide male, younger and more socially deprived relatives with more helpful information on cancer genetics.     

How to establish a high-risk cancer genetics clinic: Limitations and successes

The development of technology to locate and isolate cancer susceptibility genes has brought together the fields of oncology, cancer control, genetics, and genetic counseling to create a new specialty of cancer risk counseling with the goal to communicate more accurate information about personal cancer risk profiles based on personal and family histories. As cancer risk assessment and counseling services become standard of care in medical practice, their availability is increasingly moving from comprehensive cancer centers and academic institutions to community settings. High-risk cancer genetics clinics in the community face several challenges, including staffing, time commitment, costs, and unique quality control issues. The societal benefits include a more educated public armed with the information needed to make health decisions appropriate for the individual level of risk.     

How to eastablish a high-risk cancer genetics clinic: Limitations and successes

The development of technology to locate and isolate cancer susceptibility genes has brought together the fields of oncology, cancer control, genetics, and genetic counseling to create a new specialty of cancer risk counseling with the goal to communicate more accurate information about personal cancer risk profiles based on personal and family histories. As cancer risk assessment and counseling services become standard of care in medical practice, their availability is increasingly moving from comprehensive cancer centers and academic institutions to community settings. High-risk cancer genetics clinics in the community face several challenges, including staffing, time commitment, costs, and unique quality control issues. The societal benefits include a more educated public armed with the information needed to make health decisions appropriate for the individual level of risk.