Starlene Loader

Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk.

PURPOSE Previous studies of mutations in BRCA1 or BRCA2 have used detection methods that may underestimate the actual frequency of mutations and have analyzed women using heterogeneous criteria for risk of hereditary cancer. PATIENTS AND METHODS A total of 238 women with breast cancer before age 50 or ovarian cancer at any age and at least one first- or second-degree relative with either diagnosis underwent sequence analysis of BRCA1 followed by analysis of BRCA2 (except for 27 women who declined analysis of BRCA2 after a deleterious mutation was discovered in BRCA1). Results were correlated with personal and family history of malignancy. RESULTS Deleterious mutations were identified in 94 (39%) women, including 59 of 117 (50%) from families with ovarian cancer and 35 of 121 (29%) from families without ovarian cancer. Mutations were identified in 14 of 70 (20%) women with just one other relative who developed breast cancer before age 50. In women with breast cancer, mutations in BRCA1 and BRCA2 were associated with a 10-fold increased risk of subsequent ovarian carcinoma (P = .005). CONCLUSION Because mutations in BRCA1 and BRCA2 in women with breast cancer are associated with an increased risk of ovarian cancer, analysis of these genes should be considered for women diagnosed with breast cancer who have a high probability of carrying a mutation according to the statistical model developed with these data.

Prenatal screening for cystic fibrosis carriers: an economic evaluation.

The cloning of the CFTR gene has made it technically possible to avert the unwanted birth of a child with cystic fibrosis (CF). Several large trials offering prenatal CF carrier screening suggest that such screening is practical and that identified carriers generally use the information obtained. Therefore, a critical question is whether the cost of such screening is justified. Decision analysis was performed that used information about choices that pregnant women were observed to make at each stage in the Rochester prenatal carrier-screening trial. The cost of screening per CF birth voluntarily averted was estimated to be

Understanding the Processes of Patient Navigation to Reduce Disparities in Cancer Care: Perspectives of Trained Navigators from the Field

1,320,000-

Study Protocol: A randomized controlled trial of patient navigation-activation to reduce cancer health disparities

1,400,000. However, the lifetime medical cost of the care of a CF child in todays dollars was estimated to be slightly>

Carrier screening for cystic fibrosis : Test acceptance and one year follow-up

1,000,000. Therefore, despite both the high cost of carrier testing and the relative infrequency of CF conceptions in the general population, the averted medical-care cost resulting from choices freely made are estimated to offset approximately 74%-78% of the costs of a screening program. At present, if it is assumed that a pregnancy terminated because of CF is replaced, the marginal cost for prenatal CF carrier screening is estimated to be

Impact of genetic testing for breast-ovarian cancer susceptibility.

8,290 per quality-adjusted life-year. This value compares favorably with that of many accepted medical services. The cost of prenatal CF carrier screening could fall to equal the averted costs of CF patient care if the cost of carrier testing were to fall to

Randomized Controlled Trial of Patient Navigation for Newly Diagnosed Cancer Patients: Effects on Quality of Life

100.

Attitudes of obstetrician-gynecologists toward DNA testing for a genetic susceptibility to breast cancer

Patient navigation (PN) programs are being widely implemented to reduce disparities in cancer care for racial/ethnic minorities and the poor. However, few systematic studies cogently describe the processes of PN. We qualitatively analyzed 21 transcripts of semistructured exit interviews with three navigators about their experiences with patients who completed a randomized trial of PN. We iteratively discussed codes/categories, reflective remarks, and ways to focus/organize data and developed rules for summarizing data. We followed a three-stage analysis model: reduction, display, and conclusion drawing/verification. We used ATLAS.ti_5.2 for text segmentation, coding, and retrieval. Four categories of factors affecting cancer care outcomes emerged: patients, navigators, navigation processes, and external factors. These categories formed a preliminary conceptual framework describing ways in which PN processes influenced outcomes. Relationships between processes and outcomes were influenced by patient, navigator, and external factors. The process of PN has at its core relationship-building and instrumental assistance. An enhanced understanding of the process of PN derived from our analyses will facilitate improvement in navigators’ training and rational design of new PN programs to reduce disparities in cancer-related care.

Patient vs. physician as the target of educational outreach about screening for an inherited susceptibility to colorectal cancer.

BackgroundCancer health disparities affecting low-income and minority patients are well documented. Root-causes are multifactorial, including diagnostic and treatment delays, social and financial barriers, and poor communication. Patient navigation and communication coaching (activation) are potential interventions to address disparities in cancer treatment. The purpose of this clinical trial is to test the effectiveness of an intervention combining patient navigation and activation to improve cancer treatment.Methods/DesignThe Rochester Patient Navigation Research Program (PNRP) is a National Cancer Institute-sponsored, patient-level randomized trial (RCT) of patient navigation and activation, targeting newly-diagnosed breast and colorectal cancer patients in Rochester, NY. The goal of the program is to decrease cancer health disparities by addressing barriers to receipt of cancer care and promoting patient self-efficacy. The intervention uses trained, paraprofessional patient navigators recruited from the target community, and a detailed training and supervisory program. Recruited patients are randomly assigned to receive either usual care (except for baseline and follow-up questionnaires and interviews) or intervention. The intervention patients receive tailored assistance from their patient navigators, including phone calls, in-person meetings, and behind-the-scenes coordination of care. A total of 344 patients have been recruited. Outcomes measured at three month intervals include timeliness of care, patient adherence, patient satisfaction, quality of life, self-efficacy, health literacy, and cancer knowledge.DiscussionThis unique intervention combining patient navigation and patient activation is designed to address the multifactorial problem of cancer health disparities. If successful, this study will affect the design and implementation of patient navigation programs.Trials Registrationclinicaltrials.gov identifier NCT00496678

Genetic counseling of asymptomatic carriers in a primary care setting. The effectiveness of screening and counseling for beta-thalassemia trait.

We identified 124 carriers among 4,879 patients of prenatal care providers in the Rochester region. Six factors were identified that together permitted a correct classification regarding test acceptance for 77.5% of all subjects. For those pregnant, the most influential of these factors was a more accepting attitude toward abortion. As an indication for abortion, cystic fibrosis (CF) ranked between mild and moderate mental retardation. Of the 124 carrier women identified, we obtained 1-year follow-up information on 100. Mean score for CF knowledge at 1 year (77.4 +/- 13.2%), although significantly lower than immediately after counseling (84 +/- 12.4%), was still significantly higher than after detection but before counseling (51.1% +/- 20.7%). Anxiety about having a child with CF significantly declined from 25.8 +/- 8.0 SD immediately after counseling to 18.9 +/- 7.8 at 1 year (Spielberger State Anxiety Scale). Although 15 carriers regretted having been tested, 83% believed that they benefited from testing, 83% would make the same decision to be tested over again, and 79% would recommend testing to a friend. We conclude that, for most women, CF carrier screening accomplished its purpose: most carriers detected came for counseling, had their partners tested, and, if their partners were also carriers, had prenatal diagnosis. The major undesirable outcomes were that many women testing negative did not understand that a negative result did not exclude being a carrier and that three women found to be carriers did not have their partners tested because of anxiety or the unacceptability of pregnancy termination and therefore may not have carefully considered their decision to be tested. Both of these undesirable outcomes could have been avoided by greater attention to pretest patient education by the primary care provider.