Genetic counselling protocols for hereditary non-polyposis colorectal cancer: a survey of UK regional genetics centres

Predictive testing for hereditary non-polyposis colorectal cancer (HNPCC) is typically offered within an extended genetic counselling protocol, originally developed in the context of Huntington's Disease. We conducted a questionnaire survey of 20 UK regional genetics centres to obtain evidence regarding current approaches to HNPCC pre-test counselling. Centres were asked to describe the structure and content of pre-test counselling and their views on shortening the protocol. Sixteen centres responded to the survey. Four centres were considering shortening the protocol or had already done so. The remaining centres followed an extended protocol of two sessions separated by a 1-month period for reflection, although two centres conceded that the protocol had been reduced in certain cases. Different centres used different terminology to describe the content of pre-test counselling. Although content areas relating to education or impact of test results were covered more frequently than those relating to reflection, there was a marked tendency to consider all three areas as essential and to use both educational and reflective counselling, even in those centres that favoured a shortened protocol. This apparent dilemma highlights both the practical difficulty of how to shorten HNPCC pre-test counselling protocols and the need for controlled trials of different approaches.     

Psychosocial outcome following genetic risk counselling for familial colorectal cancer. A comparison of affected patients and family members

Few studies have reported prospective data on psychosocial outcomes after genetic counselling in families with suspected hereditary non-polyposis colorectal cancer (HNPCC). This prospective study examines the impact of multidisciplinary risk counselling on the psychosocial outcome of 139 affected cancer patients and 233 family members without cancer at risk for HNPCC. Participants completed questionnaires specific to HNPCC before and 8 weeks after attending the familial cancer clinic. Affected patients' levels of distress were closely related to their health status and exceeded that of unaffected individuals, as did worry regarding their relatives' risk. A significant reduction in general anxiety (Hospital Anxiety and Depression Scale), distress specific to familial CRC (Impact of Events Scale) and general cancer worry (Distress Hereditary Disorder) was demonstrated after counselling in both affected patients and unaffected individuals. Reduction in distress was more pronounced in affected patients given a high risk of HNPCC compared with those at intermediate risk. Among unaffected individuals, distress declined regardless of what clinical risk they were assigned. Their perceptions of risk and cancer-related threat declined, while confidence in effective surveillance increased. These results suggest the beneficial effects of multidisciplinary counselling even when high-risk information is conveyed. A patient's previous cancer experience is likely to contribute to clinically relevant distress (15% of those patients), indicating the need for appropriate counselling.     

How families communicate about HNPCC genetic testing: findings from a qualitative study

Little is known about how hereditary nonpolyposis colon cancer (HNPCC) genetic counseling and testing information is communicated within at-risk families. This article describes findings from a qualitative study of 39 adult members from five families with known HNPCC-predisposing mutations. We evaluated how information from HNPCC genetic counseling and testing was disseminated in these families and how family members reacted to and acted on this information. We included family members who had been diagnosed with an HNPCC syndrome cancer, unaffected individuals who were at 50% risk of carrying a mutation, and their spouses. Participants included those who had undergone testing and those who had not. In general, all families had shared the news about an HNPCC mutation with at-risk relatives. Communication about HNPCC genetic counseling and testing followed the norms used for conveying other nonurgent family news. Mutation noncarriers, nontesters, and those who were not biological relatives were less involved in discussing genetic counseling and testing and perceived these processes as less relevant to them. Although all family members were generally willing to share information about HNPCC, probands and mutation carriers informed extended family members and actively persuaded others to seek counseling or testing. Family members who were persuaded to seek those services by the proband were more likely to have counseling and testing and were more likely to seek those services sooner. Genetic counseling should attempt to identify the existing communication norms within families and ways that family members can take an active role in encouraging others to learn about their cancer risk and options for testing. Interventions may also need to emphasize the relevance of hereditary cancer information beyond the immediate family and to unaffected family members who may be central to the communication process (e.g., spouses of mutation carriers).     

Evaluation of a counselling protocol for predictive genetic testing for hereditary non-polyposis colorectal cancer

OBJECTIVES—To evaluate the feasibility of a reduced counselling programme for predictive genetic testing for hereditary non-polyposis colorectal cancer (HNPCC) in terms of counsellees' opinions on the extent and significance of genetic counselling and need for psychological support at different phases of the testing procedure.
DESIGN—Prospective follow up study with pre-test questionnaire assessment of background sociodemographic variables. The protocol comprised a pre-test counselling session, a period for reflection, and a test disclosure session. The outcome variables were studied by post-test questionnaires at one month and one year follow up.
SUBJECTS—Two hundred and seventy one high risk members of 36 families with HNPCC who attended both counselling sessions and completed the questionnaires.
RESULTS—The pre-test counselling was considered fairly or very useful by 89% of respondents and one post-test session was considered sufficient by over 80% of respondents at follow up. Fifty three percent would have used extra psychological support had it been offered with the counselling. On enquiry one year after receiving the test result, only 2% stated that the need for support was at its greatest at that time, while the majority (46%) reported that the need for support had been greatest at the moment of test disclosure.
CONCLUSIONS—A protocol that includes one comprehensive pre-test counselling session and a test disclosure session, supplemented with the option of professional psychological support, seems to be sufficient for both the educational and supportive needs of counsellees. Only a minority expressed a need for post-test follow up sessions, which suggests that, in this disorder, resources can be directed to the beneficial surveillance programmes rather than to extensive psychological support.


Keywords: predictive genetic testing; genetic counselling; HNPCC; hereditary non-polyposis colorectal cancer     

Genetic counselling and consent for tumour testing in HNPCC

Molecular pathological tests are performed on stored tumour material in order to identify individuals with hereditary non-polyposis colorectal cancer. We have previously identified that there is widespread use of this testing and now describe what counselling occurs prior to testing and the approaches in seeking consent. A respondent from every cancer genetic centre in UK offering microsatellite instability and/or immunohistochemistry testing (n= 20, response rate = 100%) was interviewed in order to ascertain pre-test counselling and consent protocols. Individuals providing consent are not always seen in person prior to providing consent but few services had supporting written information. Nine (of 19) consent forms documented consent to perform genetic testing, while the majority (14/19) sought consent to release pathology samples to the genetic service. Less than half of the services routinely seek consent to test samples from a deceased individual. Concerns were raised about spousal consent when the implications of results are for blood relatives. The differences identified between genetic counselling for testing of tumour tissue and for germ-line genetic testing suggest that counselling protocols specific for somatic testing should be developed. The results are discussed in the context of a changing legal environment and anticipated growing demand for testing.     

Predictive genetic testing and beyond: a theory of engagement

This article presents a tentative grounded theory, which can provide some explanation of variation in behaviour around predictive genetic testing (PGT) for Hereditary Non-Polyposis Colorectal Cancer (HNPCC), based on interviews with individuals (n = 55) from families with a clinical diagnosis of HNPCC, 12 of whom were followed through the PGT protocol. The theory is built around a core category of engagement, a newly constructed concept reflecting the degree of cognitive and emotional involvement with cancer risk in individuals from these families, and models the psychosocial process of engaging with cancer risk. The degree of engagement at the time of testing can explain variations in approaches and reactions to PGT. A series of social factors, many related to the experiences of family life, emerged as either facilitating or blocking the process of engaging with cancer risk; a series of psychological factors emerged as interacting in a recursive, dynamic manner with each other and with engagement status. The degree of engagement can change with the unfolding of time and events in family life. The theory of engagement (TE) provides an explanatory framework for understanding behaviour related to PGT for HNPCC, and can potentially be applied to research on risk perception in the social sciences more generally. In addition, the theory may have potential uses in the genetics clinic, in identifying individuals at risk of adverse reactions to PGT for cancer, thus enabling better targeting of genetic counselling resources.     

Motivations and psychosocial impact of genetic testing for HNPCC

A type of hereditary colorectal cancer (CRC) known as hereditary nonpolyposis colorectal cancer (HNPCC) is associated with MLHI and MSH2 gene mutations. This study consists of a pilot, cross-sectional study of 50 individuals who were engaged in the genetic testing process for HNPCC. The study investigated the motivations and attitudes around genetic testing and current psychosocial functioning through the use of standardized measures, as well as obtained information on disclosure patterns associated with test results. The mean age of the sample was 44.3 years. (SD = 15.0). Twenty-three individuals were identified as "carriers" (13 had a previous history of CRC), seven were "non-carriers" and 20 individuals were still awaiting test results. The primary motivations for participating in genetic testing were similar to previous reports and included: wanting to know if more screening tests were needed, obtaining information about the risk for offspring and increasing certainty around their own risk. The psychosocial scores demonstrated that a subgroup of individuals exhibited distress, with greater distress for those individuals awaiting results or testing positive. There was a high level of satisfaction associated with the experience of testing. Individuals in this study tended to disclose their test results to a variety of family and non-family members. Disclosure was primarily associated with positive experiences however, some individuals reported regret around disclosure of their results. These preliminary findings should be further explored in a larger prospective study design over multiple time points.     

Personal theories of inheritance,coping strategies,risk perception and engagement in hereditary non-polyposis colon cancer families offered genetic testing

From the geneticist's (or 'genetic counsellor's') perspective, lay models of inheritance can be perceived as problematic because they might interfere with understanding and acceptance of the explanation of inheritance provided in genetic counselling. The work presented here forms part of a larger qualitative grounded-theory study where the aim was to develop theory that could explain variations in adjustment to genetic testing for hereditary non-polyposis colon cancer (HNPCC). Ten of the 29 individuals interviewed who were at 50% or 25% risk used a 'personal theory of inheritance' to justify or explain a belief that they did, or did not, carry the family mutation. Two others indicated that, as a coping strategy, they chose to believe themselves to be carriers. This article presents part of the theory of engagement that was constructed using this data, relating to the process of development of risk perception. The theory suggests that for some individuals, these beliefs can form part of a process of coping and coming to terms with risk. An exploration of these processes may help practitioners to better understand the complexity of risk perception in individuals at genetic risk for cancer, particularly those preparing for predictive test results. Further development and testing of the theory is discussed.     

Understanding Life's Lottery: An Evaluation of Studies of Genetic Risk Awareness

This article reviews studies of risk awareness of carriers of genetic disorders and individuals who attend genetic counselling. It focuses upon investigations of recall of risk estimates following counselling. Six factors are discussed which may influence individuals' recall of genetic risk estimates. These include: mode of genetic transmission, counsellees' reproductive behaviour or intentions, time delay between counselling and data collection, prior familiarity with the disorder, subjective perceptions of risk, and the way that risk information is presented during counselling. It is argued that using counsellees' recall of genetic risk estimates as a measure of the effectiveness of counselling is problematic, both at a methodological and conceptual level. It is suggested that assessments of the effectiveness of genetic counselling must involve an approach which conceptualizes counselling as a dynamic process in which both counsellee and counsellor have active roles to play.     

Comparison of individuals opting for BRCA1/2 or HNPCC genetic susceptibility testing with regard to coping, illness perceptions, illness experiences, family system characteristics and hereditary cancer distress

OBJECTIVE: To study differences between individuals opting for genetic cancer susceptibility testing of a known familial BRCA1/2 and HNPCC related germline mutation. METHODS: Coping, illness perceptions, experiences with cancer in relatives and family system characteristics were assessed in 271 applicants for genetic testing before test result disclosure. Hereditary cancer distress, worry and cancer risk perception were assessed before, 1 week after, and 6 months after disclosure. RESULTS: Individuals from BRCA1/2 and HNPCC mutation families did not differ with regard to the number of experiences with cancer in relatives, grief symptoms, the course of cancer distress, worry and risk perception through time and most illness perceptions, coping responses and family characteristics. Individuals from BRCA1/2 families perceived hereditary cancer as more serious. They reported more frequently a passive coping style, cancer worry and a less open communication with their partner and children. CONCLUSION: Besides subtle differences, psychological mechanisms may be mainly identical in individuals opting for BRCA1/2 and HNPCC susceptibility testing. PRACTICE IMPLICATIONS: Based on our findings, using a similar counseling approach for individuals opting for BRCA1/2 or HNPCC genetic susceptibility testing is justified. In this approach, attention should be directed more to individual aspects than to the type of disorder.     

Dilemmas of anonymous predictive testing for Huntington disease: Privacy vs. optimal care

Some persons at risk for Huntington disease (HD) seek predictive testing under the protection of anonymity to reduce the risk of insurance discrimination for themselves and their families. While Canadian and European health care systems seem to limit insurance discrimination to life and disability insurance, U.S. residents do not have national health insurance and are concerned about health insurance discrimination. Two persons residing outside Canada requested predictive testing anonymously. Their primary reason for doing so was to avoid the risks of medical insurance discrimination. After a detailed preparatory session and agreement to counselling and to receipt of results in person, we agreed to provide anonymous testing to these persons. One participant, whose psychological assessment was unremarkable, coped well with the predictive testing process and did not have the CAG expansion. The other participant had considerable emotional problems prior to testing, which necesitated postponement of discussion of results and referral for psychiatric assessment and support. Both participants had difficulty maintaining anonymity. The provision of anonymous predictive testing raises several problems. With anonymous testing, clinicians cooperate with participants to exclude insurance companies from information. This may invalidate the contract with insurance companies. A policy response by insurance companies or a universal health care system to protect individuals is preferable. Individuals who request anonymous testing may be precisely those most vulnerable and in need of additional support and counselling. However, the preservation of anonymity is a burden to participants and may frustrate the clinicians' ability to establish rapport in counselling and to provide appropriate follow-up typically available through genetic counselling in predictive testing programs. Am. J. Med. Genet. 71:197–201, 1997. © 1997 Wiley-Liss, Inc.     

The use of genetic testing in hereditary colorectal cancer syndromes: genetic testing in HNPCC, (A)FAP and MAP

This study evaluated the use of genetic testing and time trends in hereditary non-polyposis colorectal cancer (HNPCC), (attenuated) familial adenomatous polyposis [(A)FAP] and human MutY homolog (MUTYH) associated polyposis (MAP) families. Eighty-seven families, who were diagnosed with disease-causing mutations between 1995 and 2006, were included in this study. The families consisted of 1547 individuals at risk. Data of these individuals were collected from medical records and family pedigrees. There was considerable interest in genetic testing with test rates of 41% in HNPCC families, 42% in (A)FAP families and 53% in MAP families. The use of genetic testing was associated with age and parenthood. Despite the interest in genetic testing, many risk carriers do not apply for testing. Moreover, time trend analysis showed a decline in test rate in HNPCC families. Studies evaluating the reasons for not testing are needed. Furthermore, a better implementation of genetic testing in clinical practice is desirable.     

What is ideal genetic counselling? A survey of current international guidelines

The objective of this article is to review guidelines that address counselling in the context of genetic testing in order to summarise what aspects of counselling they consider most important, and to examine how they construct the ideal of genetic counselling. Guidelines were collected by examining the websites of different international professional, political, ethical and patient organisations, either previously known or found with the help of the Google search engine, and also using references listed in other studies. The most frequently mentioned topics in the collected 56 guidelines were sought, and this was carried out with the software package Qualitative Solutions and Research for Non-numerical Unstructured Data Indexing Searching and Theorizing. Topics related to genetic counselling that were mentioned in at least 30 of 56 collected documents were considered to be the most important aspects of genetic counselling. The ideal of genetic counselling is expressed in the analysed guidelines as being composed of (1) an appropriately trained professional who understands genetics and its ethical implications well; (2) relevant and objective information; (3) assurance of the counsellee's understanding; (4) psychological support; (5) informed consent; (6) confidentiality of genetic information; (7) considering familial implications; (8) appropriate handling of potential discrimination of testing; and (9) assuring autonomous decision-making by the counsellee. The ideal of genetic counselling is rather consistent in the guidelines, but there are some contradictions between the requirements of objective information-giving and adapting counselling to counsellee's circumstances.     

BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing

Background: According to the international criteria for hereditary non-polyposis colorectal cancer (HNPCC) diagnostics, cancer patients with a family history or early onset of colorectal tumours showing high microsatellite instability (MSI-H) should receive genetic counselling and be offered testing for germline mutations in DNA repair genes, mainly MLH1 and MSH2. Recently, an oncogenic V600E hotspot mutation within BRAF, a kinase encoding gene from the RAS/RAF/MAPK pathway, has been found to be associated with sporadic MSI-H colon cancer, but its association with HNPCC remains to be further clarified.     

Predictive testing for Huntington disease: social characteristics and knowledge of applicants, attitudes to the test procedure and decisions made after testing

An investigation has been made of the social characteristics and knowledge and experience of Huntington disease (HD) for the first 80 individuals considering presymptomatic testing (applicants) at the medical genetics centres in Edinburgh and Glasgow and of attitudes to the test procedure and decisions made after testing for those who received a result. Sixty-one percent of applicants were female and 31% were over 40 years old. Almost all had a symptomatic parent but 38% did not know HD was in their family until they were over 25 years old and 48% had never received genetic counselling. Thirty-eight percent of applicants first heard of the test at the genetic clinic, 20% from a relative and 20% from the media, but none had received information from their GP. Thirty-one applicants did not have the test because they voluntarily withdrew (17 individuals), their family structure was unsuitable or no informative result was possible (11 individuals), or they were diagnosed clinically as being affected (3 individuals). Those who voluntarily withdrew did not differ significantly from the 49 who received a result in social characteristics or knowledge and experience of HD. Twenty-two individuals were found to be at increased risk (IR) (>50% of becoming affected) and 27 to be at decreased risk (DR) (< 50% of becoming affected). There was a median period of 9 months between entering the test procedure and receiving a result and the main criticism of the procedure was that it took too long to complete and several individuals experienced considerable anxiety while awaiting their result. One year after receiving their result, almost 40% of individuals had made major life decisions, mainly in the areas of personal relationships, career and financial matters and over a third of fecund individuals in both IR and DR groups had changed their decision about future childbearing. Eighty-five percent of the IR group and 53% of the DR group requested continued follow up after the 1-year follow-up visit. The majority wanted follow up by the genetic clinician, but we have found that in practice many individuals do not attend when offered clinic appointments after this time.     

The influence of genetic counselling in the era of DNA testing on knowledge, reproductive intentions and psychological wellbeing

Subjects of reproductive age at risk of having an affected child with a severe single gene disorder such as Duchenne muscular dystrophy (DMD) or cystic fibrosis (CF) were surveyed to ascertain: their views on genetic counselling and antenatal testing; their knowledge of their risk of having an affected child; and their psychological wellbeing. Questionnaires were posted to 209 individuals at 130 addresses; a 65% response rate was achieved. The majority of those surveyed were under 40 years of age (91%), half of them had received genetic counselling only once and for 47% the first encounter was after the diagnosis of their affected child. Most patients expressed their intention to use prenatal testing. However, less than 50% of those counselled knew their risk of having an affected child. Knowledge of risk was associated with the type of disease in the family (p<0.001) (inheritance of DMD was poorly understood by relevant subjects) and was positively associated with the participant's level of education (p<0.05). We did not detect a significant association between the number of intended children and the risk of having an affected child. In terms of family relations, genetic counselling appears to be beneficial for the nuclear family, the couple and their children, but some counsellees reported a detericration in relations with other relatives. The results indicate that couples at risk of having a child with a severe genetic disorder value the counselling provided, but many of them do not remember important facts in relation to their risk status.     

Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives

The aim of this article is to review the national regulations and practices of genetic counselling in 38 European countries, and to examine how well they intersect the ideals of genetic counselling defined in international guidelines. Using an electronic survey, representatives of the National Societies of Human Genetics in 29 countries, and appropriate contact persons for the field of genetic counselling in 9 other countries, were asked about the regulations and practices. The answers showed that consent, confidentiality, genetic counselling in the context of prenatal diagnosis, those professionals who may perform genetic counselling, and non-directiveness were the topics most often either agreed upon among professionals or regulated in those countries. These are also among the key aspects of ideal genetic counselling, based on international guidelines. Counselling in the context of susceptibility testing for multifactorial diseases, counselling people from ethnic minorities and recontacting the counsellees, on the contrary, were topics regulated or guided by generally applied practices in only few countries. Many of the answers expressed a desire for more regulation of genetic counselling, and that more uniform practices of education and organization of genetic counselling would be welcome in Europe.     

Psychological functioning in African American women at an increased risk of hereditary breast and ovarian cancer

Despite attention to psychological issues during genetic counselling and testing for hereditary breast and ovarian cancer risk, limited information is available on cancer-specific distress among African American women being targeted for participation in counselling and testing. Therefore, the purpose of this study is to examine cancer-specific distress in African American women at an increased risk of hereditary breast and ovarian cancer and to identify factors having significant associations with distress in this population. Respondents were 141 African American women identified for participation in genetic counselling and testing for BRCA1/2 mutations. Overall, respondents reported moderate levels of cancer-specific distress. Younger age (coefficient=6.0, p=0.001), being unemployed (coefficient=-5.0, p=0.01), and having a personal history of cancer (coefficient=5.0, p=0.02) had significant associations with intrusion. Younger age was also associated significantly with greater avoidance (r=6.0, p=0.02). These results suggest that African American women aged 50 and younger, those who are unemployed and women with a personal history of breast or ovarian cancer may be the most vulnerable to experiencing elevated levels of distress during genetic counselling and testing. Greater attention to psychological issues, including concerns about cancer and cancer risks, may be needed during genetic counselling and testing for BRCA1/2 mutations with these women.     

Attitudes of Dutch general practitioners towards presymptomatic DNA-testing for Huntington disease

The attitudes of 1020 Dutch GP's towards presymptomatic and prenatal testing for Huntington disease (HD) were studied by means of a postal questionnaire. The questionnaire contained questions about: approval of presymptomatic DNA-testing, informing individuals at-risk who do not request predictive testing, referral to a clinical genetics center, and opinions about different strategies of informing and supporting individuals at-risk. The response rate was 62%. More than two-thirds of the GP's considered post-test counselling and support as their responsibility. Twenty-six per cent were of the opinion that the test results should be disclosed by the GP. Fifty-nine per cent of GP's who had an individual at-risk in their practice were familiar with the test. The attitudes of GP's towards giving support and giving test results were independent of familiarity with the test and the incidence of HD-patients or at-risk individuals in the practice. Although GP's were willing to play an important role in presymptomatic DNA-testing procedures, there is a risk that they might underestimate the difficulties in communicating genetic information and the psychosocial effects of DNA-testing. Hence, we favor the premise that extensive pretest counselling and test disclosure should remain the prime responsibility of the clinical geneticist. Increasing involvement of GP's should, however, be encouraged and combined with appropriate postgraduate education about predictive DNA-testing in general.     

A randomised controlled trial on the effectiveness of a primary health care based counselling intervention on physical activity, diet and CHD risk factors

Objective

The aim of the study was to determine if multiple patient-centred lifestyle counselling sessions would be of interest to patients at risk of coronary heart disease (CHD), in a primary care setting, and if such sessions would result in changes in physical activity and diet, and health status. A randomised trial was conducted to compare the counselling intervention with usual care (health promotion leaflet), among 334 mostly obese patients.

Methods

Patients were randomised into an intervention group that received standard exercise and nutrition information plus up to five face-to-face counselling sessions with a Physical Activity Specialist (PAS) and Registered Dietitian (RD) over a 6-month period or to a control group that only received the standard information.

Results

Of those invited, patients randomised tended to be more obese, older and female. The mean (S.D.) sessions attended was 2.0 (1.6) with 50% attending at least 3. At 6 months, the counselling group were more active, particularly with respect to walking, and had reduced weight, blood pressure and cholesterol, but had not changed their diet, compared with the control group. Furthermore, those who did more sessions had greater increases in activity and reductions in weight, blood pressure and cholesterol.

Conclusion

Attending multiple sessions of client-centred counselling in primary care was of interest to patients, and generally reduced CHD risk factors.

Practice implications

The primary care setting can be used effectively to promote particularly walking, using physical activity specialists and dietitians trained to use an adapted motivational interviewing (MI) counselling style.