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PubMed2003

Effect of genetic cancer risk assessment on surgical decisions at breast cancer diagnosis.

HYPOTHESIS: Breast cancer gene (BRCA) mutation status affects patients' surgical decisions when genetic cancer risk assessment is offered at the time of breast cancer diagnosis, prior to definitive treatment. PATIENTS AND INTERVENTIONS: Outcomes following genetic cancer risk assessment were studied for women newly diagnosed as having breast cancer who were prospectively enrolled in an institutional review board-approved hereditary cancer registry during a 1-year sampling frame. BRCA gene analysis was offered to subjects with a calculated mutation probability of 10% or higher. Review of medical records and telephone survey were used to document surgical treatment decisions following genetic cancer risk assessment. RESULTS: Thirty-seven of 233 women in the registry were enrolled at the time of a breast cancer diagnosis. The interval from diagnosis to genetic cancer risk assessment ranged from 3 to 60 days. The mean calculated probability of a BRCA gene mutation was 21% across the cohort. Two women were not tested because of low prior probabilities of mutation detection, and 3 declined owing to intercurrent psychological stressors. Of the remaining 32 patients, no BRCA gene mutation was detected in 22 (69%), 3 (9%) were found to carry a variant of uncertain significance, and 7 (22%) had a deleterious mutation. All 7 subjects with a deleterious mutation opted for bilateral mastectomy, whereas 20 of 22 patients with negative test results chose stage-appropriate treatment (P<.001). CONCLUSIONS: Genetic cancer risk assessment at the time of breast cancer diagnosis significantly affected women's treatment decisions. Although need and feasibility are demonstrated, the logistics of genetic cancer risk assessment during breast cancer diagnosis prove challenging.

Adult↗
PubMed1997

Resource document for curriculum development in cancer genetics education. American Society of Clinical Oncology.

PURPOSE: The rapid growth in the use of genetic testing for heritable cancers and other diseases has led to the establishment of many committees to assess the status and future implications of such testing. The American Society of Clinical Oncology (ASCO) published a statement on genetic testing for cancer susceptibility in May 1996. In that statement, ASCO recognized the need for a major initiative to develop courses and other educational materials for ASCO members and other health care professionals that were pertinent to cancer genetics and the role of cancer predisposition testing in clinical oncology. These curriculum guidelines represent an effort to promote formal instruction on the assessment and management of familial cancer risks in training programs and continuing education courses. DESIGN AND RESULTS: An Ad hoc Task Force was created from the ASCO membership and other professional organizations. Goals of ASCO's cancer genetics education initiative, curriculum guidelines, and plans for implementation of the curriculum have been developed. To gain understanding and competency in cancer genetics and cancer predisposition testing, the curriculum emphasizes formal instruction in: (1) basic concepts and principles of genetics; (2) an understanding of the role of genetics in the etiology, diagnosis, and management of different malignancies; (3) an understanding of the ethical, legal, and social issues that surround predisposition testing; and (4) long-term management plans for individuals at high risk for cancer. This document is broad in scope and applicable to all types of malignancies. It should be considered as the framework around which cancer genetics education is developed. It is expected that implementation of training activities over the next few years will allow ASCO to fulfill its obligations to the membership. CONCLUSION: This curriculum should prove a valuable guide to those who wish further education on cancer genetics and the appropriate use of cancer predisposition testing.

Curriculum↗
PubMed2001

A descriptive study of UK cancer genetics services: an emerging clinical response to the new genetics.

The objective was to describe NHS cancer genetic counselling services and compare UK regions. The study design was a cross-sectional study over 4 weeks and attendee survey. The setting was 22 of the 24 regional cancer genetics services in the UK NHS. Participants were individuals aged over 18 attending clinics at these services. Outcome measures were staff levels, referral rates, consultation rates, follow-up plans, waiting time. There were only 11 dedicated cancer geneticists across the 22 centres. Referrals were mainly concerned with breast (63%), bowel (18%) and ovarian (12%) cancers. Only 7% of referrals were for men and 3% were for individuals from ethnic minorities. Referral rates varied from 76 to 410 per million per annum across the regions. Median waiting time for an initial appointment was 19 weeks, ranging across regions from 4 to 53 weeks. Individuals at population-level genetic risk accounted for 27% of consultations (range 0%, 58%). Shortfalls in cancer genetics staff and in the provision of genetic testing and cancer surveillance have resulted in large regional variations in access to care. Initiatives to disseminate referral and management guidelines to cancer units and primary care should be adequately resourced so that clinical genetics teams can focus on the genetic testing and management of high-risk families.

Genetic Counseling↗
PubMedDate not supplied

The social life of genetic knowledge: a case-study of choices and dilemmas in cancer genetic counselling in Denmark.

This article explores the social life of genetic knowledge in the context of cancer genetic counselling in Denmark. I focus on a specific case that occurred during my study of the processes through which genetic risk profiles are produced and through which knowledge of genes and kinship comes to appear both meaningful and contestable to counsellees. The analysis illuminates how participants in cancer genetic counselling experience gaps between, on the one hand, genetic information about kinship and predispositions to hereditary disease and, on the other hand, social experiences of kinship and risks. I argue that this gap constitutes a space for agency in which people make their own connections and interpretations. It is in this space that new social relations and understandings of bodies, health and kinship are crafted. Following the social life of genetic knowledge highlights how knowledge is practiced through social relations and how knowing is grounded in particular interactions and situated concerns.

Breast Neoplasms↗
PubMed2001

Developing a cancer genetics service in Wales: opinions of gynaecologists on the management of women at risk of familial ovarian cancer.

In Wales, a cancer genetics service has been developing since 1998. Gynaecologists play an integral role in the management of women with a family history of ovarian cancer and we were interested in investigating referral practice and management for relatives of patients with ovarian cancer among gynaecologists in Wales. In 1999, a postal questionnaire was sent to all gynaecologists. The response rate was 51%. The questionnaire contained structured questions about current provision and a number of hypothetical scenarios to explore referral patterns to the cancer genetics service. The results of this study showed that referrals varied widely among specialists, as did the numbers who required onward referral to cancer genetics. The offer of screening to women at high risk of ovarian cancer was consistent, although there were variations in how often it was offered and the age at which it was offered. Most gynaecologists were easily able to establish when it was appropriate to refer onwards to cancer genetics, differentiating between women at high or low risk. There was some confusion about women at moderate risk of ovarian cancer. This study demonstrated the need for clear referral guidelines in Wales. Guidelines have since been distributed to all general practitioners and specialists; however, continued monitoring and further evaluation of referral practices will be necessary.

Family↗
PubMed2005

Outcomes from intensive training in genetic cancer risk counseling for clinicians.

PURPOSE: Genetic cancer risk assessment is an emerging interdisciplinary practice that requires knowledge of genetics and oncology and specialized patient and family counseling skills. There is a growing need for cancer risk assessment practitioners, but most clinicians have inadequate cross-disciplinary training. An interdisciplinary course was developed to promote practitioner-level competency in cancer risk assessment to community-based clinicians. METHODS Participants were competitively selected from a pool of board-certified/eligible genetic counseling, masters-trained advanced practice nursing and physician applicants. Preference was given to clinicians with strong institutional backing practicing in underserved regions. The Continuing Medical Education/Continuing Education Unit-accredited course included didactic lectures, workshops, counseling practicum, and case conferences. Pre- and postcourse knowledge tests measured cancer genetics knowledge. Six month and one-year postcourse practice outcome surveys measured the impact of the program on professional self-efficacy and continued professional development. RESULTS/CONCLUSIONS: Forty clinicians completed the course (23 genetic counselors, 14 nurses, and three physicians). There was a significant overall increase of 22.6% in postcourse knowledge scores (P < 0.001). Thirty-five (88%) completed prescribed practice development activities. Of 29 respondents to 1-year postcourse survey, 76% reported increased professional self-efficacy; 66% reported increase in number of patients seen, and virtually all indicated interest in additional training. Outcomes demonstrate the value and efficacy of interdisciplinary training in genetic cancer risk assessment targeted to motivated community-based clinicians. Courses such as this can help address the need for competent cancer risk assessment services in communities outside the academic health center.

Education, Medical, Continuing↗
PubMed2005

A micro costing of NHS cancer genetic services.

This paper presents the first full micro costing of a commonly used cancer genetic counselling and testing protocol used in the UK. Costs were estimated for the Cardiff clinic of the Cancer Genetics Service in Wales by issuing a questionnaire to all staff, conducting an audit of clinic rooms and equipment and obtaining gross unit costs from the finance department. A total of 22 distinct event pathways were identified for patients at risk of developing breast, ovarian, breast and ovarian or colorectal cancer. The mean cost per patient were pound sterling 97- pound sterling 151 for patients at moderate risk, pound sterling 975- pound sterling 3072 for patients at high risk of developing colorectal cancer and pound sterling 675- pound sterling 2909 for patients at high risk of developing breast or ovarian cancer. The most expensive element of cancer genetic services was labour. Labour costs were dependent upon the amount of labour, staff grade, number of counsellors used and the proportion of staff time devoted to indirect patient contact. With the growing demand for cancer genetic services and the growing number of national and regional cancer genetic centers, there is a need for the different protocols being used to be thoroughly evaluated in terms of costs and outcomes.

Costs and Cost Analysis↗
PubMed2002

Cancerous genetic peculiarities non-responsible for cancer development.

Certain genetic peculiarities recently identified in cancer cells have generally been regarded as the abnormalities responsible for cancer development. However, these abnormalities may also be found in maturable cancer cells and are not limited only to the non-maturable type. As previously described by the authors, cancer tissue consists of two types of cancerous cells: maturable and non-maturable. The development of cancer may be dependent only on the non-maturable cancerous stem cells, not on the maturable type. Since the non-maturable cell may be solely responsible for carcinogenesis, the relevant genetic peculiarities that are also found in the maturable cancer cells should not be regarded as the abnormalities responsible for carcinogenesis.

Cell Division↗
PubMed2005

Description of the International Consortium For Prostate Cancer Genetics, and failure to replicate linkage of hereditary prostate cancer to 20q13.

The International Consortium for Prostate Cancer Genetics (ICPCG) is an international collaborative effort to pool pedigrees with hereditary prostate cancer (PC) in order to replicate linkage findings for PC. A strength of the ICPCG is the large number of well-characterized pedigrees, allowing linkage analyses within large subsets. Given the heterogeneity and complexity of PC, the historical difficulties of synthesizing different studies reporting positive and negative linkage replication, and the use of different statistical analysis methods and different stratification criteria, the ICPCG provides a valuable resource to evaluate linkage for hereditary PC. To date, linkage of chromosome 20 (HPC20) to hereditary PC has been one of the strongest linkage signals, yet the efforts to replicate this linkage have been limited. This paper reports a linkage analysis of chromosome 20 markers for 1,234 pedigrees with multiple cases of PC ascertained through the ICPCG, and represents the most thorough attempt to confirm or refute linkage to chromosome 20. From the original 158 Mayo pedigrees in which linkage was detected, the maximum heterogeneity LOD (HLOD) score, under a recessive model, was 2.78. In contrast, for the 1,076 pedigrees not included in the original study, the maximum HLOD score (recessive model) was 0.06. Although, a few small linkage signals for chromosome 20 were found in various strata of this pooled analysis, this large study failed to replicate linkage to HPC20. This study illustrates the value of the ICPCG family collection to evaluate reported linkage signals and suggests that the HPC20 region does not make a major contribution to PC susceptibility.

Aged↗
PubMed2005

BRCA patients and clinical collectives: new configurations of action in cancer genetics practices.

Since the late 1980s, in France and in a number of other countries, cancer genetics testing has become a clinical reality, particularly for hereditary breast and ovarian cancer. BRCA tests allowing for the assessment of an increased cancer risk among patients and their healthy relatives are now being routinely performed as part of clinical practice. Based on fieldwork on French clinical cancer genetics and on the French Cancer Genetics Collaborative Network, this paper examines the configuration of entities, actors and activities mobilized by the performance of BRAC testing, and argues that the development of clinical molecular genetic practices is predicated upon the development of new forms of collaborative work that lead to a transformation of the content and organization of medical activities and judgements. The paper analyses three major collective configurations - local multidisciplinary collectives, data collectives and new clinical collectives - and argues that they not only provide the material conditions needed to carry out the relevant activities, but also articulate a series of distinctive bio-clinical interventions. These interventions provide an interface with research activities, produce the epidemiological measurements and tools that are a sine qua non for clinical work in this field, and, most importantly, establish the conventions that underlie practices, which define the criteria that turn tools and novel entities into operational components of clinical settings. It thus appears that in the field of clinical cancer genetics, bioclinical collectives, as a locus of expertise, have replaced the individual judgement of the practicing clinician.

Breast Neoplasms↗
PubMedDate not supplied

Translational behavioral research in cancer genetics.

Recent advances in the molecular genetics of cancer have created new opportunities for behavioral scientists interested in decision-making, risk communication, and health behavior. As part of a National Cancer Institute-sponsored workshop, behavioral scientists participated in breakout groups charged with generating suggestions for research priorities. The following five research priorities were identified for the area of genetic testing for cancer susceptibility: (1) enhancing informed decision-making about whether to be tested, (2) improving methods of cancer risk communication, (3) examining the psychosocial, clinical, and economic outcomes of testing, (4) evaluating the efficacy of psychological and behavioral interventions, and (5) evaluating approaches to prevent cancer in mutation carriers. Across each of these areas, family issues, ethnic and cultural issues, and economic implications should be evaluated.

Genetic Counseling↗
PubMed2001

Factors influencing patients' decisions to decline cancer genetic counseling services.

Little is known about the factors influencing patients' decisions about whether to utilize cancer genetic counseling services. The purpose of this study is to identify potential barriers to broad utilization of such services. Of a total of 136 decliners of cancer genetic counseling services at our institution, 117 were deemed eligible to participate. Of these, 73 were randomly selected for study. A total of 37/73 (51%) agreed to participate in a semistructured telephone survey designed to assess the factors that impacted their decisions to decline cancer genetic counseling. An interview script, composed of both closed- and open-ended questions was used to direct the survey. Interviews were audiotaped. Responses to open-ended questions were content analyzed. Of the participants, 34 were female and 36 were Caucasian. Seventy-two percent of the participants were between ages 36 and 55 years. Participants cited the following reasons for choosing not to proceed with cancer genetic counseling: concern over health insurability for self or family (n=15); cost (n=12); emotional impact on self or family (n=11); no perceived benefit (n=11); and time commitment (n=9). These data provide an understanding of patient's attitudes and concern impacting their decisions to decline cancer genetic counseling. This information provides guidance for the development of interventions designed to limit barriers among patients referred for such services.

Attitude of Health Personnel↗
PubMed1999

A study of the relationship between family history of breast cancer and knowledge of breast cancer genetic testing prerequisites.

Awareness of hereditary breast cancer genetic testing, of breast cancer risk factors, and of increased level of risk based on family history are necessary before women can seek out genetic services. The aim of this paper is to describe the relationships between family history of breast cancer and awareness of genetic testing, knowledge of breast cancer risk factors, and perceived lifetime risk of breast cancer. An anonymous survey was administered by mail to a random sample of 600 women, 200 from each of three breast cancer family history groups (none, intermediate, and strong), drawn from a population-based registry of 240,000 women enrolled in a mammography screening program in the Denver Metropolitan area in Colorado. Awareness of genetic testing for breast cancer risk assessment was found to be significantly associated with family history of breast cancer, increasing from 35% in the lowest family history risk group to 67% in the group with the strongest familial risk (p = 0.002). In all family history groups, nearly 70% of respondents viewed high-fat diet and smoking as being important in relation to breast cancer risk, but alcohol was seen as being only somewhat important or not important by almost half of all respondents. Having a mother or sister with breast cancer was reported as being extremely or very important by nearly all respondents, regardless of family history. As expected, perceived lifetime risk for developing breast cancer was associated with family history (p = 0.001), but the perception of the lifetime risk for breast cancer was much higher among all of the family history groups than their true risk. In conclusion, educational interventions are needed to heighten women's awareness of genetic testing, to clarify women's knowledge of breast cancer risk factors, especially alcohol, and to reassure many women that their actual breast cancer risk is lower than they might perceive.

Breast Neoplasms↗
PubMed2000

Psychosocial aspects of cancer genetics: women at high risk for breast and ovarian cancer.

In the past five years the advent of cancer genetic testing has created concern about the negative psychosocial sequelae of genetic counseling and testing. Research indicates that the women most likely to seek genetic testing are anxious about carrying a gene mutation and developing breast cancer. Women who are at high risk have poor knowledge and the expectation of being a gene-mutation carrier. High levels of distress have been shown to interfere with decision-making about genetic testing. Further, individuals who decline genetic testing may be at increased risk for depressive symptoms even more than those who are found to be gene-mutation carriers. There is great concern that inappropriate candidates will seek genetic testing. Improved education and access to genetic counseling are essential to help women make appropriate decisions about genetic testing. Strategies for the prevention of breast and ovarian cancer are explored, and methods to reduce the adverse psychosocial effects of decision-making about genetic testing and preventive treatment strategies are suggested.

Breast Neoplasms↗
PubMed2006

Referral to cancer genetic counseling: are there stages of readiness?

As genetic awareness spreads among healthcare providers and the general public, and evidence mounts to show the efficacy of cancer control methods, referrals to cancer genetic counseling services for risk assessment are becoming more common. However, few studies have examined referral patterns to genetics and even less is known about referral uptake to clinical cancer genetic counseling. We investigated outcome of genetics referral in 43 affected women attending a breast cancer treatment program who were referred based on having BRCA mutation carrier risks > or =10%. Within 6 months, of the 36 women we were able to recontact, 13 (36%) came to an appointment at the cancer genetic counseling clinic (Acceptors), 10 (27%) said they intended to come in the future (Intenders), and 13 (36%) said they would not consider genetic counseling (Decliners). Referral uptake was framed by elements of the Transtheoretical model (TTM) to determine if decisional balance scores (DBSs), a summary of an individual's "Pro" and "Con" opinions related to genetic testing, correlated with their decision to follow through. Mean DBS's were strongly negative for the Decliner group (-7.4), weakly negative for the Intender group (-1.1), and positive for the Acceptor group (5.4). The difference in the DBS along the continuum was due more to the mean "Con" score decreasing, rather than the mean "Pro" score increasing. Theoretical frameworks are needed to study adherence to referral for cancer genetic counseling. Stage-based theories may have a role to play.

Adult↗
PubMed2002

Core competencies in cancer genetics for advanced practice oncology nurses.

PURPOSE/OBJECTIVES: To determine core competencies in cancer genetics for advanced practice nurses (APNs) in oncology. DESIGN: Survey. SAMPLE: Expert panel of 9 nursing educators or researchers, 9 general genetics experts, 9 genetics experts with specialties in oncology, and 10 oncology APN nurse consumers (N = 37). METHODS: Utilizing the Delphi Technique, two rounds of surveys were conducted. Round 1's survey required open-ended responses to identify skills, attitudes, and competencies specific to cancer genetics. Round 2 requested ranking of the importance of identified competencies. MAIN RESEARCH VARIABLES: Skills, attitudes, and competencies specific to cancer genetics. FINDINGS: Recommended genetics competencies and knowledge for oncology APNs were identified for the categories of direct caregiver (6 items), coordinator (6 items), consultant (7 items), educator (6 items), researcher (8 items), and professional attitudes (16 items). CONCLUSIONS: Identified competencies provide a foundation and direction for development of the education curriculum recommended for all practicing oncology APNs. IMPLICATIONS FOR NURSING: Integrating genetic concepts into clinical practice is essential. Oncology APNs must have an expanded knowledge base in genetics to enable them to incorporate advances in genetics into practice to ensure quality outcomes. Development of genetics education is crucial to ensure future competency. Research that determines the impact of such education is warranted

Adult↗
PubMed2004

Delivering information about cancer genetics via letter to patients at low and moderate risk of familial cancer: a pilot study in Wales.

Increasing demands upon specialist cancer genetics services have resulted in a need to explore alternative means of delivering genetic risk information to individuals at low-risk of familial cancer. This pilot study investigates patient satisfaction with a letter to low and moderate risk individuals notifying them of their risk. Sixty-six people completed a questionnaire designed to measure satisfaction with the way they had been notified of their cancer risk. Two key findings emerge from the data: first of all, whilst many respondents indicated overall satisfaction with the risk letter, a substantial number wanted more information about their risk; and secondly, low-risk individuals in this study are less reassured by and less satisfied with the risk letter than those at moderate risk. The optimal service provision for delivery of genetic risk information is likely to be one which can best respond to individual differences in information-seeking, distress and risk comprehension. There is a need therefore, for a randomised control trial to compare the effectiveness of a risk notification letter with more traditional telephone risk counselling and the implications of each mode of delivery upon the resources of specialist cancer genetics services.

Adult↗