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PubMedDate not supplied

The GRAIDS Trial: the development and evaluation of computer decision support for cancer genetic risk assessment in primary care.

The development and evaluation of computer decision support for the assessment of cancer genetic risk in primary care is reported with two series of studies described: the RAGs (Risk Assessment in Genetics) studies and the GRAIDS (Genetic Risk Assessment in an Intranet and Decision Support) Trial. In the GRAIDS Trial, 45 general practices in Eastern England have been recruited and randomised. Comparison practices attend an educational session and receive clinical guidelines about familial breast and colorectal cancer. In the intervention practices a lead clinician is trained in cancer genetics and use of the GRAIDS software. The GRAIDS software is a simple pedigree-drawing program that implements clinical guidelines for familial breast and colorectal cancer and presents individualised information about breast cancer risk in a range of formats. Outcome measures of the trial include: frequency of software use, practitioners' attitudes towards the software, total number of referrals to secondary care about familial cancer and the proportion that meet regional referral criteria, and a patient-centred measure of informed decision making. The family history will become an increasingly important tool in primary care to assess genetic risk. This research evaluates an approach to support high-quality advice about cancer genetics in primary care which could be applied more broadly as our understanding of complex disease genetics increases.

Attitude of Health Personnel↗
PubMed2004

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.

Adolescent↗
PubMed2000

What would you do? Specialists' perspectives on cancer genetic testing, prophylactic surgery, and insurance discrimination.

PURPOSE: To examine what cancer genetics specialists predict they would do personally if they were at 50% risk of carrying a mutation that predisposes to hereditary breast/ovarian cancer (BRCA1/BRCA2) and hereditary nonpolyposis colon cancer (HNPCC). METHODS: Questionnaire survey of the membership of the National Society of Genetic Counselors (NSGC) Special Interest Group (SIG) in Cancer. RESULTS: Of the 296 active members of the NSGC Cancer-SIG surveyed, 163 (55%) responded. Eighty-five percent predicted that if they had a 50% risk of carrying a BRCA1/BRCA2 mutation, they would pursue genetic testing. If they tested positive for a mutation at age 35, 25% predicted they would pursue prophylactic bilateral mastectomies and 68%, prophylactic oophorectomy. Ninety-one percent of respondents believe they would pursue genetic testing for HNPCC, and 17% would elect prophylactic colectomy; 54%, prophylactic hysterectomy; and 52%, prophylactic oophorectomy if they tested positive for a mutation. The majority (68%) would not bill their insurance companies for genetic testing because of fear of discrimination, and 26% would use an alias when undergoing testing. Fifty-seven percent of counselors would seek professional psychologic support to help them cope with the results of testing. CONCLUSION: A large percentage of cancer genetic counseling providers predicted they would opt for prophylactic surgery at a young age if they carried a BRCA or HNPCC mutation, and most would seek professional psychologic assistance when undergoing testing. More than half of respondents would not bill their insurance companies for genetic testing, largely because of fear of genetic discrimination. The vast majority of those providers most familiar with cancer genetic testing and its associated medical, psychologic, and legal implications would still pursue genetic testing.

Adult↗
PubMed2006

Factors associated with enrollment in cancer genetics research.

Previous studies have identified low patient accrual in large-scale cancer clinical trials, particularly for underrepresented groups, such as ethnic minorities, females, and patients >65 years. As there have been few studies examining participation in cancer genetics epidemiologic research, our objective was to identify clinical and demographic factors predicting enrollment in these studies. A total of 1,111 patients diagnosed with colorectal cancer presenting to a gastrointestinal oncology clinic were approached to enroll in a study investigating the role of the MSH6 gene in familial colorectal cancer. Patient consent was sought for providing a blood specimen for DNA analysis and review of medical records/tumor specimens and contacting family members to confirm the family history of cancer. Seven predictor variables for enrollment (age, sex, ethnicity, family history of colorectal cancer in a first-degree relative, presence of children, insurance type, and type of visit) were analyzed using logistic regression analysis to determine the effect on decision to enroll. Of 1,111 patients approached, 696 (62.6%) enrolled in the study. Of these approached individuals, 4.2% were of nonwhite ethnicity and 33.5% were age > or =65 years. Patients of white ethnicity [odds ratio (OR), 2.10; P = 0.018], males (OR, 1.47; P = 0.002), those ages < or =65 years (OR, 1.42; P = 0.009), and those with a first-degree relative with colorectal cancer (OR, 1.57; P = 0.005) were significantly more likely to enroll. Fewer than 4% of all participants denied permission for the study researchers to access information from medical records or to be recontacted by researchers to discuss the enrollment of additional family members. Our data suggest that, once subjects decided to enroll, the majority (88%) was comfortable with consenting to all study components, including the creation of cell lines and future recontact. Low participation rates for ethnic minorities, females, and elderly patients are similar for both cancer genetics and clinical trial studies.

Aged↗
PubMed2000

Knowledge, attitudes, and behaviors of Alabama's primary care physicians regarding cancer genetics.

PURPOSE: To determine Alabama's primary care physicians' knowledge, attitudes, and behaviors regarding cancer genetics. METHOD: A questionnaire was mailed to a random sample of 1,148 physicians: family and general practitioners, internists, and obstetrician-gynecologists. RESULTS: Of the surveyed physicians, 22.1% responded. Of the respondents, 63% to 85% obtained family histories of cancer from 76% to 100% of their patients. Obstetrician-gynecologists referred more patients for cancer genetic testing (p = .008) and were more confident in their abilities to tailor preventive recommendations based on the results (p = .05) than were the other physicians. Primary care physicians were more likely than were obstetrician-gynecologists to identify lack of time during the patient visit as hindering efforts to do genetic counseling (p = .01). Physicians in practice for ten years or less were more confident in explaining genetic test results than were those in practice for more than 20 years (p = .01). CONCLUSION: These data validate gaps in primary care practices in obtaining family history of cancer, as well as lack of confidence in explaining genetic test results and in tailoring recommendations based on the tests.

Adult↗
PubMedDate not supplied

Checking the scoreboard: the impact of cancer genetics on clinical practice.

Improvements in cancer care have historically been predicated on significant scientific and technological advances, such as antisepsis in surgery, and the discovery of the therapeutic benefits of radiation and chemotherapeutic drugs. The past 30 years have seen an exponential increase in our knowledge of the biology and genetics of cancer, built on a massive and sustained research effort worldwide. Yet over the same period, significant changes in cancer outcomes have occurred largely as a result of public health measures and through incremental advances in existing technologies. The present paper examines the extent to which the new knowledge of cancer genetics has impacted on current patient care. It considers some of the issues that may have served to lessen this impact, as well as some of the reasons for this apparent imbalance between action and outcome.

Humans↗
PubMed2005

Breast cancer and ovarian cancer genetics.

Breast and ovarian cancers are the second and fifth leading causes of cancer death, respectively, among women in the United States. Individuals with breast cancer have a 20--30% chance of having at least one relative with the disease. However, only 5--10% of the cases are a direct result of germline mutations in highly penetrable genes, such as BRCA1 and BRCA2 (BRCA1/2) as well as genes TP53 and PTEN. Since 1996, genetic testing for these mutations has been clinically available. A strategy for the management of women at increased familial risk of breast and ovarian cancers is described, which includes genetic assessment, chemoprevention, radiologic screening, and clinical and self-examination. Genetic testing should occur within a cancer genetic clinic after genetic counseling. A blood sample allows determination of the presence of the BRCA1 and BRCA2 genes, the TP53 gene, the PTEN gene, and the ATM gene. Tumor examination has identified a growth factor receptor gene, human epidermal growth factor receptor (HER-2). With regard to diet and lifestyle, women at increased risk of breast cancer could be advised to reduce dietary fat, avoid obesity, decrease alcohol consumption, and take regular exercise. Although chemoprotection is a valuable consideration, it is important to emphasize that the use of Tamoxifen in BRCA1 and BRCA2 mutation carriers is not established, nor is the optimum duration of benefit. An overview of the main outcomes of the current published studies confirms a 38% decrease in breast cancer incidence with Tamoxifen but recommends its use be restricted to women at high risk of breast cancer and low risk for potential side effects. The role of bilateral risk-reducing mastectomy or prophylactic mastectomy has been controversial for several reasons, including the psychosocial significance of the breast in Western cultures, the wide acceptance of breast conservation in surgery for early breast cancer, and the previous lack of data on its efficacy. The surgical procedure should aim to remove substantially all at-risk breast tissue. However, there is a balance between reduction of cancer risk and cosmetic outcome. Bilateral prophylactic oophorectomy can significantly decrease ovarian cancer risk in women who carry BCRA1 mutations. Oophorectomy lowers the risk of breast cancer, even in women who have previously used hormone replacement therapy. There are no published randomized controlled trials examining the effectiveness of mammographic screening in women under 50 years of age with a family history of breast cancer. However, the published studies do suggest that mammographic screening of a high-risk group of women under 50 years of age may detect cancer at a rate equivalent to that seen in women 10 years older with normal risk. Other initial studies also support MRI as having a greater sensitivity than mammography in high-risk women. Breast clinical and self-examination is often advocated, but its effectiveness is unproved, and only one randomized study has been undertaken in women at risk. On the basis of this study as well as one nonrandomized study, it can be concluded that clinical examination as well as mammography are essential in detecting breast cancer. under 50 years of age with a family history of breast cancer. However, the published studies do suggest that mammographic screening of a high-risk group of women under 50 years of age may detect cancer at a rate equivalent to that seen in women 10 years older with normal risk. Other initial studies also support MRI as having a greater sensitivity than mammography in high-risk women. Breast clinical and self-examination is often advocated, but its effectiveness is unproved, and only one randomized study has been undertaken in women at risk. On the basis of this study as well as one nonrandomized study, it can be concluded that clinical examination as well as mammography are essential in detecting breast cancer.

Breast Neoplasms↗
PubMed2006

Pancreatic cancer genetic epidemiology consortium.

We have organized the Pancreatic Cancer Genetic Epidemiology (PACGENE) Consortium to identify susceptibility genes in familial pancreatic cancer (FPC). The Consortium comprises seven data collection centers, a statistical genetics core, and a pathology/archival genotyping core. We recruit kindreds containing two or more affected blood relatives ascertained through incident pancreatic adenocarcinoma cases, physician referrals, and/or through Internet recruitment. Accrual to a database containing core clinical, demographic, lifestyle, and family history information from questionnaires is ongoing, along with biospecimen collection. To date, 13,147 patients have been screened for family history, of whom 476 (50% male) probands and 1,912 of their adult (99% unaffected) relatives have been enrolled. Of these, 379 kindreds meet criteria for FPC, having at least two first-degree relatives with pancreatic cancer. Cumulative incidence curves using available age of diagnosis (onset) among and affected relatives were compared with those for incident pancreatic cancer cases reported to 13 U.S. Surveillance Epidemiology and End Results (SEER) sites from 1973 to 2000 (N = 72,700). The mean age +/- SD at diagnosis among 466 PACGENE probands and 670 affected relatives was 64.1 +/- 11.8 and was 65.4 +/- 11.6 for the subset of 369 FPC probands and 429 relatives. Both samples were significantly younger than the mean age at diagnosis in the SEER population (70.0 +/- 12.1 years; differences in curves versus SEER, P < 0.001). Age at diagnosis (excluding probands) in FPC kindreds does not decrease with increasing number of affected individuals. In our sample, younger age at diagnosis was observed whether we grouped probands by recruitment sites that predominantly recruited through high-risk referrals, or through screening all pancreatic cancer patients for family history. Linkage studies are ongoing. The PACGENE Consortium will be a valuable family-based resource that will greatly enhance genetic epidemiology research in pancreatic cancer.

Age of Onset↗
PubMed1999

Breast cancer genetics and managed care. The Kaiser Permanente experience.

In 1996, with evolution of the science of cancer genetics and the advent of commercially available BRCA1 and later BRCA2 testing, Kaiser Permanente began to apply these advances in clinical practice. Recommendations for referral to genetic counseling were developed in 1997 as the Clinical Practice Guidelines for Referral for Genetic Counseling for Inherited Susceptibility for Breast and Ovarian Cancer. Implementation of these guidelines with associated protocols in Kaiser Permanente's Northern California Region has occupied the ensuing years and includes dissemination of the high-risk guidelines for breast and ovarian cancer, dissemination of patient and physician educational materials on the breast cancer guidelines, monthly classes and taped healthphone messages for patients, interactive videoconferencing for physicians, a training seminar for medical geneticists who will counsel patients at risk, publication of articles on breast cancer and genetic risk in health plan member- and physician-directed magazines, identification and training of clinical specialists and supporting clinicians to care for patients before and after counseling, individual counseling and testing of patients and families, and development of a data registry. Implementing the guidelines helped us communicate the uncertainty surrounding breast cancer testing, and we were obliged to learn more about ethical, legal, societal, and insurance controversies surrounding genetic testing. Given the lack of effective prevention for breast or ovarian cancer and the difficulty of treatment, the appropriate use of genetics in patient care is essential. In the near future, we will see the need for cancer genetics to become an integral part of practice throughout the spectrum of health care. We at Kaiser Permanente feel that the breast cancer guideline project is the first step in this process.

BRCA1 Protein↗
PubMed2004

Awareness of breast cancer genetics and interest in predictive genetic testing: a survey of a southern Italian population.

BACKGROUND: Before starting a molecular screening program for breast cancer risk and in order to develop ad hoc educational strategies, a population survey in Apulia, Italy, was performed to gather information on women's awareness of breast cancer genetics and their attitude toward genetic testing for breast cancer risk. PATIENTS AND METHODS: A consecutive series of 677 healthy women with or without a family history of breast cancer, who attended the outpatient clinics of Lega Italiana per la Lotta contro i Tumori in Bari, Italy, for preventive visits, were asked to complete a 20-item questionnaire on socio-demographics, risk perception, psychological characteristics and interest in genetic testing for breast cancer predisposing genes. RESULTS: Most women (77%) reported knowing something about the genetics of breast cancer; only 7% of the women were not interested at all in genetic testing. These figures were not significantly different for women with or without a family history of breast cancer. The two most frequently cited reasons for being interested in genetic testing, accounting for more than 50% of collected responses, were 'to learn about your children's risk' and 'to help advance research'. On multiple logistic regression analysis, only older age [odds ratio (OR) 1.9; 95% confidence interval (CI) 1.3-2.9] was associated with women's knowledge of genetic testing. Moreover, marital status (OR 4.0; 95% CI 1.1-14.6) and thinking of cancer (OR 2.2; 95% CI 1.0-4.7) independently predicted the interest in having genetic testing. CONCLUSIONS: Southern Italian women seem highly interested in genetic testing for breast cancer risk. However, their expectations mainly regard their concerns about their children or their altruistic need to help research rather than the idea of a direct clinical benefit. The great interest of the women in genetic testing probably reflects their inappropriate knowledge of the information that genetic testing can provide for breast cancer risk analysis.

Adult↗
PubMed2001

Cancer genetics fundamentals.

It is often said that cancer is genetic. What exactly does that mean? This article is our answer to that question at the turn of the millennium. We present models of carcinogenesis, review basic cancer genetics terminology, and explain some of the fundamental genetic changes common to all types of cancer. These are organized into 6 sections of (1) self-sufficiency in growth signals, (2) insensitivity to growth-inhibitory signals, (3) evasion of programmed cell death, (4) limitless replicative potential, (5) sustained angiogenesis, and (6) tissue invasion and metastases. Underlying all of these changes are the even more fundamental enabling factors of genetic instability on both the chromosomal and the gene level. Finally, we look toward the future in a field where the future is now!

Gene Expression Regulation, Neoplastic↗
PubMed2001

Cancer genetics: a model for multifactorial conditions?

Research in the area of genetic susceptibility and cancer is beginning to challenge traditional socio-ethical and legal norms. In particular, increased personal data protection legislation is severely constraining the ability to maintain or initiate new cancer registries for proper epidemiological purposes. Likewise, the principle and obligation of the confidentiality of genetic information cannot remain sacrosanct in the face of the immediate health needs of biological relatives. Finally, participation in research and even the willingness to be tested and treated is constantly threatened by the uncertainty surrounding insurability. What are the new ethical parameters emerging in research in cancer genetics?

Confidentiality↗
PubMedDate not supplied

Cancer genetics: the importance of obtaining a family history.

Cancer genetics is a rapidly evolving field that is becoming an integral part of a cancer patient's care. Until recently little genetics had been taught in the nursing curricula but a recent drive by the Department of Health is resulting in the integration of genetics into nurse training.

Curriculum↗
PubMed2006

Toward cultural competence in cancer genetic counseling and genetics education: lessons learned from Chinese-Australians.

PURPOSE: In societies such as Australia with a strong multicultural makeup, culturally determined attitudes to genetics, testing, and counseling may be incompatible with current genetics service provision. METHODS: An ethnographic investigation using purposive sampling to increase subject diversity was used to explore the range of beliefs about kinship and inheritance using Chinese-Australians as a case. Participants comprised a sample of 15 Chinese-Australians who had been recruited through several community-based organizations. RESULTS: The level of acculturation does not correlate with holding beliefs about inheritance, kinship, and causes of hereditary cancer that are based on "Western" biomedical or traditional concepts. Mismatch between beliefs may exist within families that can impact participation in cancer genetic testing. Family history taking that underpins the surveillance, management, and referral to genetic counseling where there is a strong family history of breast, ovarian, or colorectal cancer can also be impacted unless recognition is made of the patrilineal concept of kinship prevalent in this Chinese-Australian community. CONCLUSION: This community-based study confirmed and validated views and beliefs on inheritance and kinship and inherited cancer attributed to senior family members by Chinese-Australians who attended cancer genetic counseling. Barriers to communication can occur where there may be incompatibility within the family between "Western" and traditional beliefs. The findings were used to develop strategies for culturally competent cancer genetic counseling with Australian-Chinese patients. These include nonjudgmental incorporation of their belief systems into the genetic counseling process and avoidance of stereotyping. They have also influenced the development of genetics education materials to optimize family history taking.

Adult↗
PubMed2005

Two decades of cancer genetics: from specificity to pleiotropic networks.

Modeling cancer in mice has reached an even greater relevance in the field of hematological malignancies, due to the already advanced characterization of the molecular basis of many hematological disorders. These mouse models have often allowed us to achieve insight into the pathogenesis of the human disease as well as to test novel therapeutic modalities in preclinical studies. However, one of the most rewarding cultural shifts triggered by these modeling efforts stems from what was originally perceived as background noise or modeling inaccuracy. Manipulation of the involved genes often triggered cancer susceptibility in cell types other than the hematopoietic lineages. This prompted us to challenge a fundamental misconception in cancer genetics that the approximately 200 genes directly involved in chromosomal translocations associated with hematopoietic malignancies are specifically and functionally restricted to leukemia/lymphoma pathogenesis only. The genetics underlying the pathogenesis of leukemia and lymphoma have historically been regarded as distinct from those underlying the pathogenesis of solid tumors because hematopoietic malignancies are often associated with characteristic chromosomal translocations that are leukemia- or lymphoma-specific. In this paper, we discuss how leukemia/lymphoma genes indeed participate in fundamental proto-oncogenic and growth-suppressive networks and may play a wider role in cancer pathogenesis. We focus on paradigmatic examples such as c-myc and PML, as well as on more recent findings from our laboratory concerning the role of NPM in tumorigenesis.

Animals↗
PubMed2002

Breast cancer genetics education for college women: an evaluation of approaches.

BACKGROUND: A strong family history of breast cancer may greatly increase the chances for young women to develop the disease. Breast cancer genetics education for college-age women would increase awareness, but an effective method remains elusive. METHODS: Thirty-five college women viewed four education tools (CD-ROM, video, brochure, and lecture) and discussed topic importance, tool preference, and distribution ideas in focus groups. RESULTS: The participants considered breast cancer genetics important; however, the information must be made relevant to their peers to be accepted. CONCLUSION: An ideal education method would focus on general breast health, mentioning family history as an important risk factor.

Adult↗
PubMed2003

Cancer genetics in primary care.

Primary care physicians are in a unique position to apply recent advances in cancer genetics to the improved care of their patients. Although the impact of our burgeoning knowledge in this area is significant and growing, it is often incompletely understood by the general practitioner. In this article we review the genetic basis of cancer and focus attention on inherited forms of cancer using breast cancer gene 1 (BRCA1) and breast cancer gene 2 (BRCA2) as examples. Specific attributes of family and personal history are the most significant indicators of an increased risk of cancer in the individual patient. Genetic testing can be used to further assess risk and guide strategies for cancer screening, prevention, and treatment. However, the decision of whether to pursue genetic testing and the interpretation of results are complex. We review factors involved in these decisions as well as the implications, risks, and benefits of genetic testing for the individual and the family.

Breast Neoplasms↗
PubMed1996

Cancer genetics clinics: target population and consultees' expectations.

The aim of this study was to determine in healthy consultees attending cancer genetics clinics their risk status, their pathways leading to the clinics, their expectations and perception of cancer risk. In 1994, the consultees at six French centres completed a questionnaire before their first oncogenetic consultation. The oncogeneticists subsequently filled in a standardised form giving their risk assessment. Among the 206 healthy consultees, 91.3% were women, 92.2% had at least one cancer-affected first-degree relative and 73% had a "cancer family risk" as assessed by the oncogeneticist. Sixty-nine per cent of the consultees were referred to the clinics by a physician, 10.4% by their family and 18.8% on their own initiative: 83.5% of the sample perceived their family risk of cancer as being high and this belief was confirmed in 74.3% of the cases studied by the oncogeneticist. The families of self-referred consultees were less often at risk than those of consultees referred by a physician or by their family (P = 0.012). The majority (78%) expected to be informed about cancer prevention and screening, and this expectation depended on the consultee's level of education (P = 0.001). This study shows that medical pathways are more effective than the media as a means of reaching the members of the general population who are genuinely at risk, and shows that fuller information about prevention needs to be provided at cancer genetic consultations.

Adult↗