Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Cancer genetics”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 73 records · Page 4Linked to original sources
PubMed2005

General public's knowledge, interest and information needs related to genetic cancer: an exploratory study.

Single-group interviews were conducted with 49 people to get an idea of what and how the general public thinks about genetic cancer. Understanding what people think and need is crucial for adequate public health communication about genetic issues. Group discussions revealed that people believed that the vulnerability for cancer was largely dependent on their lifestyle, and that they were at risk if cancer ran in their family. Participants found it difficult to distinguish cancer from genetic cancer since in both cases the cause was related to cell problems. People felt that they lacked adequate knowledge of genetic cancer, which was also confirmed by the misconceptions revealed during the discussions. Participants mentioned both advantages (knowing one's risk, performing preventive actions, more openness, less taboo, and more knowledge) and disadvantages (fear arousal, difficult to time, undirected, tenability) of receiving genetic information. Although people felt ambivalent about wanting to receive genetic cancer information, as yet the general tendency seemed to be to postpone opening up to such information until there was a relevant case in the family. Subsequently, preferred information sources were family members and health professionals. According to the participants mass media should provide information on relevant features of genetic cancer to look out for. As yet, people showed little interest in biological genetic information.

Adult↗
PubMed1999

Genetic cancer risk assessment. Putting it all together.

Dramatic advances in our understanding of the genetic basis for cancer have led to the development of new technologies and tools for genetic cancer risk assessment. Yet, cancer is a complex disorder, and risk assessment, counseling, and management strategies need to consider several important domains: state of cancer genetics knowledge, state of mind (previous cancer experience within the family), state of technology, and state of the art in terms of management. There are several barriers to the efficient identification and counseling of patients and families at high risk for cancer because of inherited susceptibility mutations. Chief among these concerns is the lack of access to competent counseling and education services that are equipped to handle the complex and rapidly evolving medical, technological, and ethical issues. Cancer risk assessment is developing into a distinct discipline in which established empiric risk models are recast along with rapidly evolving genetic technologies for estimation of individual cancer risk. Cancer genetics consultants are an important resource for primary care physicians, gynecologists, surgeons, and oncologists. However, no formal qualification criteria exist for either physicians or allied health care professionals who subspecialize in this new field. This article covers the unique domains of cancer genetics in health care and surveys models for delivery of cancer genetics services and tools for risk assessment. Coupled with innovative cancer diagnostic and preventive services and research, we have the potential to make great strides in cancer prevention and control.

Education, Medical, Continuing↗
PubMed2005

Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians.

BACKGROUND: Clinically relevant genetics knowledge is essential for appropriate assessment and management of inherited cancer risk, and for effective communication with patients. This national physician survey assessed knowledge regarding basic cancer genetics concepts early in the process of introduction of predictive genetic testing for breast/ovarian and hereditary non-polyposis colorectal cancer (HNPCC) syndromes. METHODS: A stratified random sample was selected from the American Medical Association Masterfile of all licensed physicians. In total, 1251 physicians (820 in primary care, 431 in selected subspecialties) responded to a 15 minute questionnaire (response rate 71%) in 1999-2000. Multivariate logistic regression analyses were conducted to identify demographic and practice characteristics associated with accurate response to three knowledge questions. RESULTS: Of the study population, 37.5% was aware of paternal inheritance of BRCA1/2 mutations, and 33.8% recognised that these mutations occur in <10% of breast cancer patients. Only 13.1% accurately identified HNPCC gene penetrance as >or=50%. Obstetrics/gynaecology physicians, oncologists, and general surgeons were significantly more likely than general and family practitioners to respond accurately to the breast/ovarian questions, as were gastroenterologists to the HNPCC question. CONCLUSIONS: These nationally representative data indicate limited physician knowledge about key cancer genetics concepts in 1999-2000, particularly among general primary care physicians. Specialists were more knowledgeable about syndromes they might treat or refer elsewhere. Recent dissemination of practice guidelines and continued expansion of relevant clinical literature may enhance knowledge over time. In addition to educational efforts to assist physicians with the growing knowledge base, more research is needed to characterise the organisational changes required within the healthcare system to provide effective cancer genetics services.

Adult↗
PubMed1999

The family history component of cancer genetic risk counseling.

Family history is an important risk factor for inherited cancers. Obtaining a family history is therefore a key component of cancer genetic risk counseling (CGRC). Many oncology nurses do not have training in cancer genetic risk counseling. However, every nurse is capable of obtaining a basic family history. The family history can help in identifying patterns of cancer transmission in families. Nurses can then refer families with a strong history of cancer to nurse geneticists, genetic counselors, or others qualified to make a further assessment of risk. If those resources are unavailable locally, the Internet can be of assistance. This article summarizes genetic and clinical characteristics of inherited cancers, the significance of family history, interview approaches, questions to ask about personal and family history of cancer, what a pedigree is and how to draw one, what to do with family information including risk analysis and documentation, and available resources on the Internet.

Arizona↗
PubMed1997

Cancer genetics--survey of primary care physicians' attitudes and practices.

BACKGROUND: Genetic testing for susceptibility to cancer often involves complex medical, ethical, legal, and psychological issues that present a challenge for physicians in clinical practice. METHODS: This study is based on survey data from 101 primary care physicians throughout Texas, measuring their interest in and attitudes about cancer genetics. RESULTS: The majority of physicians surveyed reported that they would consider genetic screening for at least one of seven genetic disorders that predispose to cancer, and almost 20% had made one or more referrals for genetic evaluation and DNA testing. Overall, they wanted to see a variety of continuing education programs and educational materials on DNA testing for cancer susceptibility developed. Although most of the physicians accurately perceived a number of major obstacles to referring patients for genetic testing, barriers such as difficulty in interpreting test results, potential for false-positive and false-negative results, and concern about patients'reactions to test results were reported less frequently. CONCLUSIONS: The results support other evidence for a need to provide continuing education to physicians about genetic testing for susceptibility to cancer.

Attitude of Health Personnel↗
PubMed2006

If we build it ... will they come?--establishing a cancer genetics services clinic for an underserved predominantly Latina cohort.

BACKGROUND: Cancer genetic counseling and testing is a standard of care option for appropriate families and can identify individuals at increased risk prior to diagnosis, when prevention or detection strategies are most effective. Despite documented efficacy of cancer risk reduction in high-risk individuals, underserved and minority individuals have a disproportionate cancer burden and limited access to genetic counseling. METHODS: A needs assessment survey documented gaps in knowledge and interest in prevention. Satellite clinics were established at two indigent healthcare systems. Cancer genetics CME lectures were conducted and referral guidelines disseminated to clinicians who referred patients for counseling. RESULTS: An increase in clinician knowledge was demonstrated post-CME and reflected by quality referrals. Eighty-eight percent of patients kept their appointments. In the predominantly Latina(6) (n=77) clinic population, 71.4% were affected with cancer, and 17 mutation positive families were identified. Preliminary data shows a positive impact on patients' motivation and behavior. The majority has expressed satisfaction and reduction in anxiety. CONCLUSIONS: This study demonstrates feasibility and acceptability of cancer genetics services in this population, suggesting the potential to reduce cancer morbidity in underserved, high-risk families.

Adult↗
PubMed2003

Cancer genetics service provision: a comparison of seven European centres.

OBJECTIVE: To conduct a survey in seven European cancer genetics centres to compare service provision, organisation and practices for familial breast and colon cancer consultations and testing. Information was obtained on aspects of services both nationally and locally. METHODS: A detailed survey questionnaire was adapted collaboratively to obtain the required information. Initial survey data were collected within each centre and interim results were discussed at two European Workshops. Where differences in practice existed, details were clarified to ensure accuracy and adequacy of information. Participating centres were Haifa (Israel), Hannover (Germany), Leiden (The Netherlands), Leuven (Belgium), Manchester (UK), Marseille (France) and Milan (Italy), representing countries with populations ranging from 6.5 to 80 million. RESULTS: The European countries diverged in regard to the number of cancer genetics centres nationally (from 8 in Belgium to 37 in France), and the average population served by each centre (from 0.59 million in Israel to 3.32 million in Italy). All centres offered free care at the point of access, but referral to specialist care varied according to national health care provision. At a centre level, staff roles varied due to differences in training and health care provision. The annual number of counsellees seen in each participating centre ranged from 200 to over 1,700. Access to breast surveillance or bowel screening varied between countries, again reflecting differences in medical care pathways. These countries converged in regard to the wide availability of professional bodies and published guidelines promoting aspects of service provision. Similarities between centres included provision of a multidisciplinary team, with access to psychological support, albeit with varying degrees of integration. All services were dominated (70-90%) by referrals from families with an increased risk of breast cancer despite wide variation in referral patterns. Collection of pedigree data and risk assessment strategies were broadly similar, and centres used comparable genetic testing protocols. Average consultation times ranged between 45 and 90 min. All centres had access to a laboratory offering DNA testing for breast and bowel cancer-predisposing genes, although testing rates varied, reflecting the stage of service development and the type of population. Israel offered the highest number of genetic tests for breast cancer susceptibility because of the existence of specific founder mutations, in part explaining why the cancer genetics service in Haifa differed most from the other six. CONCLUSION: Despite considerable differences in service organisation, there were broad similarities in the provision of cancer genetic services in the centres surveyed.

Breast Neoplasms↗
PubMed2006

Correlates of depressive symptoms among women seeking cancer genetic counseling and risk assessment at a high-risk cancer clinic.

The aims of this study were to (1) assess the level of depression among women seeking cancer genetic counseling and risk assessment and to (2) identify and describe the demographic, health history, and health behavior correlates of clinically significant depression. Participants were 280 women presenting for an intake appointment at a university cancer risk clinic. During intake, participants completed questionnaires assessing demographics, health history, health practices, and depression. Twenty-eight percent of the sample met criteria for at least mild depression. Descriptive statistics indicated that depressed women were more likely to be African American, to have more children, less likely to receive a mammogram, and consumed fewer alcoholic drinks per week than nondepressed women. Given the known associations between depression, health behaviors such as cancer screening, and potential responses to the genetic testing process, assessment of mood disturbance remains an important consideration for genetic counselors.

Adult↗
PubMed2004

Health economics and genetic service development: a familial cancer genetic example.

Advances in genetics are allowing a greater number of clinical genetics services to be offered to individuals with family histories of particular diseases. It is important that such services are not allowed to proliferate before they have been properly evaluated in terms of both their clinical and cost-effectiveness. A randomised controlled study of a new clinical genetics service in Wales for women with a family history of breast cancer has been undertaken. The health service costs from initial consultation and counselling through to mutation testing within families were assessed, along with patient travel costs. The extra cost of specialist genetics assessment (intervention) was pound 16.36 higher per woman than assessment by a breast surgeon at a District General Hospital (control). A further cost of pound 46.42 per initially presenting woman was also generated as a result of further counselling within the families of 48, and testing within the families of 36 of the 412 original presenting women. An explanation is given here of the costing methodology as an illustration of what is involved in such an exercise.

Adult↗
PubMed2006

Cancer screening and risk-reducing behaviors of women seeking genetic cancer risk assessment for breast and ovarian cancers.

PURPOSE/OBJECTIVES: To examine breast and ovarian cancer screening and risk-reducing behaviors of women seeking genetic cancer risk assessment (GCRA). DESIGN: Descriptive, cross-sectional. SETTING: An insurance-based clinic that serves high-risk patients in a southern California cancer center. SAMPLE: 134 women with breast or ovarian cancer (affected group) and 80 women with a family history of breast or ovarian cancer (unaffected group). The mean age of the sample was 48 years (range = 21-86), 79% were Caucasian, 66% were married, 60% were college educated, and 78% had children. Most affected women had early-stage disease. Unaffected women had a family history of breast (86%) or ovarian (14%) cancer. METHODS: Mailed surveys assessed pre-GCRA health behaviors and health and family histories. MAIN RESEARCH VARIABLES: Breast cancer screening (mammograms, clinical breast examination [CBE], breast self-examination), ovarian cancer screening (CA-125, pelvic ultrasound), and breast and ovarian cancer risk-reducing strategies (tamoxifen, bilateral mastectomy, oral contraceptive pills, bilateral salpingo-oophorectomy). FINDINGS: Twenty-one percent of the women who should have been having a mammogram had not had an annual examination as recommended, and 30% of affected women had not had annual CBEs. Few women took tamoxifen or oral contraceptive pills or had a bilateral salpingo-oophorectomy or bilateral mastectomy for cancer risk reduction. Twelve percent likely had unnecessary ovarian cancer screening. About 35% used other means, including herbs and homeopathy, for cancer prevention. CONCLUSIONS: Nearly a third of the affected women had not had appropriate breast cancer screening. About 12% used unsubstantiated, potentially harmful cancer "prevention" measures (e.g., herbs). IMPLICATIONS FOR NURSING: Nurses should assess clients' personal and family breast and ovarian cancer histories and promote cancer screening and risk-reducing behaviors that are appropriate for age and risk level.

Adult↗
PubMed2004

The biology of cancer genetics.

OBJECTIVES: To review cancer biology and associated genetic change. DATA SOURCES: Professional journals, texts, monographs, and Internet websites. CONCLUSION: Several types of genetic damage occur in cancer cells: activation of protooncogenes into oncogenes that give cells an abnormal growth advantage; inactivation of tumor suppressor genes that would normally slow or stop abnormal cell growth; the bypass of genes that cause aberrant cells to die by apoptosis; the ability to establish vasculature, and the ability to override genes that regulate cell senescence. The end result of accumulated genetic errors is cells that can reproduce without restriction, invade local tissues, and ultimately, establish distant metastases. IMPLICATIONS FOR NURSING PRACTICE: Identification of the genetic changes in cancer cells and of the proteins that these changes affect promises to provide diagnostic and prognostic markers as well as molecular targets for therapeutic intervention. It is critical that nurses have a basic understanding of cell biology and genetics so they may better comprehend the unfolding changes in medicine to best serve patients and families.

Cell Transformation, Neoplastic↗
PubMed2003

Referrals of women with a family history of breast cancer from primary care to cancer genetics services in South East Scotland.

As part of a cluster randomised trial to assess an alternative model of cancer genetics services, we gathered data on all referrals from general practitioners (GPs) to cancer genetics services in South East Scotland over a 4-year period. The referral rate per 1000 patients rose by 48% from 0.21 in the 2-year period before the trial to 0.31 during the trial. This increase was much greater in the trial group offered the GP clinic service (64% increase compared to a 38% increase in those referred to the regional service). Thus, the offer of a more local service appeared to have a marked effect on GP management of these women. Referral rates to cancer genetics services from general practices varied widely with higher referral rates from practices with more female partners. There was a negative correlation between referral rates and practice area deprivation scores. However, this was not found during the trial in the group which offered clinics in general practice, the provision of clinic appointments nearer to the homes of more socially deprived women resulting in improved access to women from deprived areas. The interaction with the GP appears to be associated with an inappropriate level of interest in and expectation of the appropriateness of genetic testing. The provision of the clinics within general practice did not result in higher levels of confidence among GPs in managing these women.

Breast Neoplasms↗
PubMed2005

An assessment of the efficacy of cancer genetic counselling using real-time videoconferencing technology (telemedicine) compared to face-to-face consultations.

There are few published studies regarding the use of telemedicine in counselling families with a history of cancer. In this study, cancer genetic counselling was evaluated when conducted via telemedicine and compared to face-to-face consultations. Participants were placed into a telemedicine group or a face-to-face group depending on their geographical location. Telemedicine consultations took place using real-time videoconferencing technology ISDN6 digital telephone lines. Sixteen participants were evaluated in the telemedicine compared to 21 in the face-to-face group and all participants were asked to complete both a precounselling and postcounselling questionnaire, which assessed their understanding of cancer genetics, anxiety levels, satisfaction levels, and allowed for personal comments. In both the telemedicine and face-to-face groups, a significant reduction in cancer related anxiety levels and high satisfaction levels were reported. There was a trend towards increased cancer genetic knowledge post genetic counselling in both groups. The results show that telemedicine is a useful alternative by which to provide cancer genetic services when geographical distance is an issue.

Adult↗
PubMed2001

Cancer genetics in oncology practice.

Cancer is a genetic disease caused by the progressive accumulation of mutations in critical genes that control cell growth and differentiation. Completion of the Human Genome Project promises to revolutionize the practice of Medicine, especially Oncology care. The tremendous gains in the knowledge of the structure and function of human genes will surely impact the diagnosis, prognosis and treatment of cancer. Moreover, it will lead to more effective cancer control through the use of genetics to quantify individual cancer risks. This article reviews the current status of genetic testing and counseling for cancer risk assessment and will suggest a framework for integrating such counseling into oncology practice.

Adenomatous Polyposis Coli↗
PubMed2002

Reactions of GPs to a triage-controlled referral system for cancer genetics.

BACKGROUND: The demand for genetic services is increasing as public awareness about 'predictive' tests increases and commercial marketing initiatives develop. In the UK, genetic services vary widely between regions. To manage demand, an all-Wales cancer genetics service based on telephone triage and referral guidelines was designed and implemented. OBJECTIVES: The aim of this study was to examine the reactions of GPs to a cancer genetics service controlled by referral guidelines and a triage system, and the perceived impact genetics will have on general practice. METHODS: We conducted a structured qualitative study in primary care using sequential focus group discussions with 14 GPs, representing 12 practices divided into two groups (service providers and educationalists). The doctors were introduced to the 'new' genetics, briefed about the service and the referral guidelines and given an outline of the topics to be discussed. All discussions were recorded, transcribed and analysed. RESULTS: The GPs in this study had not considered how they and their teams would handle the practical implications of the 'new' genetics. They had no major objections to a triage system as a means of regulating access to a scarce specialist service, but were concerned about two issues. First, that an insistence on the completion of a postal questionnaire as a means of obtaining an initial assessment could disadvantage some individuals and, secondly, that it was not clear to either the GP or the patient that the risk assessment would be undertaken by a telephone interview. Although there was some concern about yet another set of referral guidelines, participants accepted that the potential demand for cancer genetics services had to be regulated. CONCLUSION: The acceptance by GPs of this triage system represented a reluctant acknowledgement that primary care, in its present organizational form, cannot provide high quality genetic counselling. However, the realization that this represented a relinquishment of the normal generalist role led to the emergence of ambivalence and a wish to consider how best to accommodate this new need in primary care.

Adult↗
PubMed2001

Cultural aspects of cancer genetics: setting a research agenda.

BACKGROUND: Anecdotal evidence suggests that people from non-Anglo-Celtic backgrounds are under-represented at familial cancer clinics in the UK, the USA, and Australia. This article discusses cultural beliefs as a potential key barrier to access, reviews previous empirical research on cultural aspects of cancer genetics, draws implications from findings, and sets a research agenda on the inter-relationships between culture, cancer genetics, and kinship. METHODS: The CD-ROM databases MEDLINE, PsychLIT, CINAHL, and Sociological Abstracts were searched from 1980 onwards. RESULTS: Cultural aspects of cancer genetics is the focus of an emerging body of publications. Almost all studies assessed African-American women with a family history of breast cancer and few studies included more diverse samples, such as Americans of Ashkenazi Jewish background or Hawaiian- and Japanese-Americans. Our analysis of published reports suggests several directions for future research. First, an increased focus on various Asian societies appears warranted. Research outside North America could explore the extent to which findings can be replicated in other multicultural settings. In addition, control group designs are likely to benefit from systematically assessing culture based beliefs and cultural identity in the "majority culture" group used for comparative purposes. CONCLUSION: More data on which to base the provision of culturally appropriate familial cancer clinic services to ethnically diverse societies are needed. Empirical data will assist with culturally appropriate categorisation of people from other cultures into risk groups based on their family histories and provide the basis for the development of culturally appropriate patient education strategies and materials.

Black or African American↗
PubMed2000

Disclosure to the family of breast/ovarian cancer genetic test results: patient's willingness and associated factors.

Informed probands are key actors for disclosing genetic information to their relatives when a mutation has been identified in the family. The objectives were to study women's attitudes towards the family disclosure of positive breast cancer genetic testing results and to determine the predictive factors of the diffusion patterns observed. A national multi-center cross-sectional survey was carried out at five French cancer genetic clinics during a 1-year period. Self-administered questionnaires were completed after the consultation by 84.5% (398/471) of women attending breast cancer genetic clinics for the first time. Among the 383 respondents who had at least one living first-degree relative to inform, 8.6% would inform none, 33.2% would inform at least one of them, and 58.2% would inform all of them. The sibship would be the most frequently informed blood relatives, sisters in 86.9% and brothers in 79% compared with mother in 71.4%, children in 70.4%, and father in 64.9%. Women of the family would be more frequently informed than men (P < 0.05). After multivariate adjustment, age, the fact to be affected by cancer, the number of daughters, and the emotional disturbance due to cancer in a close relationship were the main determinants (P < 0.05) of the diffusion patterns observed. The first step of the relatives' attendance to genetic counseling and the proband's willingness to disclose breast cancer genetic tests results was high in this study and was clearly dependent on the women's personal and emotional characteristics.

Adult↗