Characteristics associated with genetic counseling referral and BRCA1/2 testing among women in a large integrated health system.

BACKGROUND: Evidence shows underutilization of cancer genetics services. To explore the reasons behind this underutilization, this study evaluated characteristics of women who were referred for genetic counseling and/or had undergone BRCA1/2 testing. METHODS: An ovarian cancer risk perception study stratified 16,720 eligible women from the Henry Ford Health System into average-, elevated-, and high-risk groups based on family history. We randomly selected 3,307 subjects and interviewed 2,524 of them (76.3% response rate). RESULTS: Among the average-, elevated-, and high-risk groups, 2.3, 10.1, and 20.2%, respectively, reported genetic counseling referrals, and 0.8, 3.3, and 9.5%, respectively, reported having undergone BRCA testing. Personal breast cancer history, high risk, and perceived ovarian cancer risk were associated with both referral and testing. Discussion of family history with a doctor predicted counseling referral, whereas belief that family history influenced risk was the strongest BRCA testing predictor. Women perceiving their cancer risk as much higher than other women their age were twice as likely (95% confidence interval: 2.0-9.6) to report genetic counseling referral. CONCLUSION: In a health system with ready access to cancer genetic counseling and BRCA testing, women who were at high risk underutilized these services. There were strong associations between perceived ovarian cancer risk and genetic counseling referral, and between a belief that family history influenced risk and BRCA testing.

The influence of comorbid conditions on racial disparities in endometrial cancer survival.

OBJECTIVE: There are known disparities in endometrial cancer survival with black women who experience a greater risk of death compared with white women. The purpose of this investigation was to evaluate the role of comorbid conditions as modifiers of endometrial cancer survival by race. STUDY DESIGN: Two hundred seventy-one black women and 356 white women who had been diagnosed with endometrial cancer from 1990-2005 were identified from a large urban integrated health center. A retrospective chart review was conducted to gather information on comorbid conditions and other known demographic and clinical predictors of survival. RESULTS: Black women experienced a higher hazard of death from any cause (hazard ratio [HR] 1.51; 95% confidence interval [CI], 1.22-1.87) and from endometrial cancer (HR, 2.42; 95% CI, 1.63-3.60). After adjustment for known clinical prognostic factors and comorbid conditions, the hazard of death for black women was elevated but no longer statistically significant for overall survival (HR, 1.22; 95% CI, 0.94-1.57), and the hazard of death from endometrial cancer remained significantly increased (HR, 2.27; 95% CI, 1.39-3.68). Both black and white women with a history of hypertension experienced a lower hazard of death from endometrial cancer (HR, 0.47; 95% CI, 0.23-0.98; and HR, 0.35; 95% CI, 0.19-0.67, respectively). CONCLUSION: The higher prevalence of comorbid conditions among black women does not explain fully the racial disparities that are seen in endometrial cancer survival. The association between hypertension and a lower hazard of death from endometrial cancer is intriguing, and further investigation into the underlying mechanism is needed.

Participation in genetic testing research varies by social group.

BACKGROUND: Advances in technology have made individual access to personal genetic information foreseeable in the near future. Policy makers and the media forecast that the ready availability of personal genetic profiles would benefit both the individual and the health care system by improving outcomes and decreasing cost. However, there is a significant gap between having access to genetic data and either wanting or understanding the information it provides. OBJECTIVE: Our primary aim was to evaluate, using a population-based sample of healthy adults, whether gender, race and education status influences interest and participation in a multiplex genetic susceptibility test. METHODS: Healthy, insured individuals, 25-40 years of age, were approached via a large, integrated health system in which primary and specialty care is available. Study participants were offered personalized genetic risk information on 8 common chronic health conditions. Social groups historically known not to participate in genetic research (men, African Americans and those from lower education neighborhoods) were oversampled. We describe the recruitment outcomes and testing decisions of these social groups. RESULTS: We found that even among those with access to health care, African Americans were less likely to participate in the multiplex genetic susceptibility test, while those from higher education neighborhoods were more likely to participate. CONCLUSIONS: Our results suggest that large social groups will likely be underrepresented in research in personalized genomics even when robust population-based recruitment strategies are employed.

Pregnancy associated smoking behavior and six year postpartum recall.

BACKGROUND: This study examined predictors and behaviors of pregnancy-related smoking among women who belonged to a private health maintenance organization and the recall accuracy of pregnancy-related smoking behaviors after 6-years. METHODS: A cohort of 725 pregnant women was followed for six years. Major predictors for smoking behavior before, during, and one-year following pregnancy were determined. In addition, accuracy of recall six years postpartum of smoking behavior at the time of pregnancy and one-year postpartum was tested. RESULTS: Mother's education, asthma status, amount of pre-pregnancy smoking, gravidity, and father's smoking status were important in the prediction of pregnancy associated smoking. Agreement for recall of smoking behavior during pregnancy (6 year recall) and one-year postpartum (5 year recall) were 90% and 91%, respectively. CONCLUSIONS: Despite potentially adverse outcomes, a proportion of women continue to smoke throughout pregnancy. A number of variables proved to be important predictors of pregnancy associated smoking behavior. These factors should be considered by smoking cessation programs targeting women of reproductive age. Additionally, there was substantial agreement for maternal recall at six years postpartum of smoking behavior at the time of pregnancy and one-year postpartum. This should be considered in retrospective study designs that are primarily based on maternal recall of smoking behaviors before, during, and following pregnancy.

Assessing controversial direct-to-consumer advertising for hereditary breast cancer testing: reactions from women and their physicians in a managed care organization.

OBJECTIVE: To describe the impact on patients and physicians at a managed care organization (MCO) of a direct-to-consumer advertising (DTC-ad) campaign concerning testing for the BRCA1 and BRCA2 genes. STUDY DESIGN: Observational study. METHODS: In 2003, we mailed a 30-item questionnaire to 750 randomly chosen female members of Kaiser Permanente Colorado (KPCO) aged 25 to 54 years, and 100 female KPCO members with a history of breast cancer genetic referral. We mailed a 7-item questionnaire to 180 randomly chosen KPCO primary care providers. RESULTS: Of 394 patient respondents, 245 (62%) reported exposure to the DTC-ad of whom 63% reported that the DTC-ad caused no anxiety at all. A high level of perceived breast cancer risk and being of Hispanic ethnicity each were independently associated with reported anxiety due to the DTC-ad (adjusted odds ratio [OR] = 3.23, 95% confidence interval [CI] = 1.35, 7.73, and adjusted OR = 4.19, 95% CI = 1.48, 11.83, respectively). Greater knowledge was seen among respondents exposed to the DTC-ad than among those reporting no exposure (P = .015). Of the physician respondents, 84% reported that the DTC-ad caused no strain on the doctor-patient relationship, and nearly 80% reported no effect on daily clinical practice. Genetic referrals soared more than 200% compared with the prior year, when there was no advertising. CONCLUSION: The DTC-ad had a marked impact on genetic services, but little apparent negative impact on patients or primary care providers at an MCO.

Impact of direct-to-consumer advertising for hereditary breast cancer testing on genetic services at a managed care organization: a naturally-occurring experiment.

PURPOSE: To describe the impact of Myriad Genetics, Inc.'s direct-to-consumer advertising (DTC-ad) campaign on cancer genetic services within two Managed Care Organizations, Kaiser Permanente Colorado (KPCO), Denver, Colorado, where the ad campaign occurred, and Henry Ford Health System (HFHS), Detroit, Michigan, where there were no advertisements. METHODS: The main outcome measures were the changes in number and pretest mutation probability of referrals approved for cancer genetic services at KPCO and HFHS during the campaign versus the year prior, and mutation probability of those undergoing testing. RESULTS: At KPCO, referrals increased 244% during the DTC-ad compared to the same time period a year earlier (P value<0.001). The proportion of referrals at high pretest probability of a mutation (10% or greater) dropped from 69% the previous year to 48% during the campaign (P value<0.001). There was no significant change in pretest mutation probability among women who underwent testing between the two time periods. HFHS reported no significant change between the two time periods for numbers or mutation probability of referrals, or for mutation probability of women tested. CONCLUSION: The DTC-ad caused significant increase in demand for cancer genetic services. In the face of potential future DTC-ad for inherited cancer risk, providers and payers need to consider the delivery of genetic services and genetic education for persons of all risk levels.

Guidelines for breast and ovarian cancer genetic counseling referral: adoption and implementation in HMOs.

PURPOSE: To describe referral guidelines for hereditary breast and ovarian cancer (HBOC) counseling among a group of Health Maintenance Organizations (HMOs) and awareness of such among primary care clinicians. METHODS: An organizational assessment of plan policies and a primary care clinician survey. RESULTS: Five of the 7 HMOs reported having HBOC referral guidelines. Differences between plan's criteria included age of breast cancer onset, inclusion of male breast cancer, and second-degree relatives. Of the 91% clinicians responding, only half were aware of the HBOC guidelines. Awareness was higher in the plan with the most intense implementation effort (OR=3.0, 1.5-5.9) and among gynecologists (OR=2.8, 1.5-5.4). CONCLUSIONS: Although HBOC counseling guidelines within participating HMOs identify persons for referral that can be easily incorporated into routine practice, continued work is needed to better understand how to help primary care providers identify high-risk persons, and new models of providing genetic services may need to be considered.