Utilization of breast cancer risk prediction models by cancer genetic counselors in clinical practice predominantly in the United States.

Risk assessment in cancer genetic counseling is essential in identifying individuals at high risk for developing breast cancer to recommend appropriate screening and management options. Historically, many breast cancer risk prediction models were developed to calculate an individual's risk to develop breast cancer or to carry a pathogenic variant in the BRCA1 or BRCA2 genes. However, how or when genetic counselors use these models in clinical settings is currently unknown. We explored genetic counselors' breast cancer risk model usage patterns including frequency of use, reasons for using or not using models, and change in usage since the adoption of multi-gene panel testing. An online survey was developed and sent to members of the National Society of Genetic Counselors; board-certified genetic counselors whose practice included cancer genetic counseling were eligible to participate in the study. The response rate was estimated at 23% (243/1,058), and respondents were predominantly working in the United States. The results showed that 93% of all respondents use at least one breast cancer risk prediction model in their clinical practice. Among the six risk models selected for the study, the Tyrer-Cuzick (IBIS) model was used most frequently (95%), and the BOADICEA model was used least (40%). Determining increased or decreased surveillance and breast MRI eligibility were the two most common reasons for most model usage, while time consumption and difficulty in navigation were the two most common reasons for not using models. This study provides insight into perceived benefits and limitations of risk models in clinical use in the United States, which may be useful information for software developers, genetic counseling program curriculum developers, and currently practicing cancer genetic counselors.

Impact of family history assessment on communication with family members and health care providers: A report from the Family Healthware™ Impact Trial (FHITr).

OBJECTIVE: This study examines the impact of Family Healthware™ on communication behaviors; specifically, communication with family members and health care providers about family health history. METHODS: A total of 3786 participants were enrolled in the Family Healthware™ Impact Trial (FHITr) in the United States from 2005-7. The trial employed a two-arm cluster-randomized design, with primary care practices serving as the unit of randomization. Using generalized estimating equations (GEE), analyses focused on communication behaviors at 6month follow-up, adjusting for age, site and practice clustering. RESULTS: A significant interaction was observed between study arm and baseline communication status for the family communication outcomes (p's<.01), indicating that intervention had effects of different magnitude between those already communicating at baseline and those who were not. Among participants who were not communicating at baseline, intervention participants had higher odds of communicating with family members about family history risk (OR=1.24, p=0.042) and actively collecting family history information at follow-up (OR=2.67, p=0.026). Family Healthware™ did not have a significant effect on family communication among those already communicating at baseline, or on provider communication, regardless of baseline communication status. Greater communication was observed among those at increased familial risk for a greater number of diseases. CONCLUSION: Family Healthware™ prompted more communication about family history with family members, among those who were not previously communicating. Efforts are needed to identify approaches to encourage greater sharing of family history information, particularly with health care providers.

Family physicians' awareness and knowledge of the Genetic Information Non-Discrimination Act (GINA).

Historically, physicians have expressed concern about their patients' risk of genetic discrimination, which has acted as a barrier to uptake of genetic services. The Genetic Information Nondiscrimination Act of 2008 (GINA) is intended to protect patients against employer and health insurance discrimination. Physicians' awareness and knowledge of GINA has yet to be evaluated. In 2009, we mailed surveys to 1500 randomly selected members of the American Academy of Family Physicians. Questions measured physicians' current knowledge of GINA and their level of concern for genetic discrimination. In total, 401 physicians completed the survey (response rate 26.9%). Approximately half (54.5%) of physicians had no awareness of GINA. Of physicians who reported basic knowledge of GINA, the majority were aware of the protections offered for group health insurance (92.7%), private health insurance (82.9%), and employment (70.7%). Fewer physicians were aware of GINA's limitations regarding life insurance (53.7%) and long-term care insurance (58.8%). Physicians demonstrated highest levels of concern for health insurance, life insurance, and long-term care insurance discrimination, with less concern for employer and family/social discrimination. Level of concern for the risk of genetic discrimination did not correlate significantly with awareness of GINA. Approximately 17 months after GINA was signed into federal law, physicians' knowledge remained limited regarding the existence of this legislation and relevant details. Physicians who are aware of GINA continue to have significant concerns regarding the risk of genetic discrimination. This study reveals the need to further educate physicians about the existence of GINA and the protections offered.

Clinical utility of family history for cancer screening and referral in primary care: a report from the Family Healthware Impact Trial.

PURPOSE: To assess the effectiveness of computerized familial risk assessment and tailored messages for identifying individuals for targeted cancer prevention strategies and motivating behavior change. METHODS: We conducted a randomized clinical trial in primary care patients aged 35-65 years using Family Healthware, a self-administered, internet-based tool that collects family history for six common diseases including breast cancer, colon cancer, and ovarian cancer, stratifies risk into three tiers, and provides tailored prevention messages. Cancer screening adherence and consultation were measured at baseline and 6-month follow-up. RESULTS: Of 3283 participants, 34% were at strong or moderate risk of at least one of the cancers. Family Healthware identified additional participants for whom earlier screening (colon cancer, 4.4%; breast cancer, women ages: 35-39 years, 9%) or genetic assessment (colon cancer, 2.5%; breast cancer, 10%; and ovarian cancer, 4%) may be indicated. Fewer than half were already adherent with risk-based screening. Screening adherence improved for all risk categories with no difference between intervention and control groups. Consultation with specialists did not differ between groups. CONCLUSION: Family Healthware identified patients for intensified cancer prevention. Engagement of clinicians and patients, integration with clinical decision support, and inclusion of nonfamilial risk factors may be necessary to achieve the full potential of computerized risk assessment.

Components of family history associated with women's disease perceptions for cancer: a report from the Family Healthware™ Impact Trial.

PURPOSE: To determine the specific components of family history and personal characteristics related to disease perceptions about breast, colon, and ovarian cancers. METHODS: Baseline, cross-sectional data on 2,505 healthy women aged 35-65 years enrolled from 41 primary care practices in the cluster-randomized Family Healthware™ Impact Trial, assessed for detailed family history and perceived risk, perceived severity, worry, and perceived control over getting six common diseases including breast, colon, and ovarian cancers. RESULTS: Participants provided family history information on 41,841 total relatives. We found evidence of underreporting of paternal family history and lower perceived breast cancer risk with cancer in the paternal versus maternal lineage. We observed cancer-specific perceived risks and worry for individual family history elements and also found novel "spillover" effects where a family history of one cancer was associated with altered disease perceptions of another. Having a mother with early-onset breast or ovarian cancer was strongly associated with perceived risk of breast cancer. Age, parenthood, and affected lineage were associated with disease perceptions and ran counter to empiric risks. CONCLUSIONS: Understanding patients' formulation of risk for multiple diseases is important for public health initiatives that seek to inform risk appraisal, influence disease perceptions, or match preventive interventions to existing risk perceptions.

Family history and perceptions about risk and prevention for chronic diseases in primary care: a report from the family healthware impact trial.

PURPOSE: To determine whether family medical history as a risk factor for six common diseases is related to patients' perceptions of risk, worry, and control over getting these diseases. METHODS: We used data from the cluster-randomized, controlled Family Healthware Impact Trial (FHITr). At baseline, healthy primary care patients reported their perceptions about coronary heart disease, stroke, diabetes, and breast, ovarian, and colon cancers. Immediately afterward, intervention group participants used Family Healthware to record family medical history; this web-based tool stratified familial disease risks. Multivariate and multilevel regression analyses measured the association between familial risk and patient perceptions for each disease, controlling for personal health and demographics. RESULTS: For the 2330 participants who used Family Healthware immediately after providing baseline data, perceived risk and worry for each disease were strongly associated with family history risk, adjusting for personal risk factors. The magnitude of the effect of family history on perceived risk ranged from 0.35 standard deviation for ovarian cancer to 1.12 standard deviations for colon cancer. Family history was not related to perceived control over developing diseases. Risk perceptions seemed optimistically biased, with 48-79% of participants with increased familial risk for diseases reporting that they were at average risk or below. CONCLUSIONS: Participants' ratings of their risk for developing common diseases, before feedback on familial risk, parallels but is often lower than their calculated risk based on family history. Having a family history of a disease increases its salience and does not change one's perceived ability to prevent the disease.

Psychological impact of recall in high-risk breast MRI screening.

PURPOSE: To address the widespread concern that false-positive results during breast MRI screening may have adverse psychological effects. METHODS: Impact of Event Scale measurements in 103 high-risk women enrolled in a longitudinal MRI screening study and comparison of subjects with normal results vs. those with prior recall events. RESULTS: Of 189 MRI scans performed, 64 (34%) prompted further evaluation. Subjects with previously abnormal results had significantly higher Avoidance scores at the time of their second MRI. Multivariate analysis showed this was driven by the greater number of BRCA1/2 carriers in that group but was not related to screening recall. CONCLUSIONS: Practitioners' concerns about the high false positive rate of breast MRI may not be matched by actual psychological effects in most high-risk women.

Comparison of risk perceptions and beliefs across common chronic diseases.

OBJECTIVES: Few studies have compared perceptions of risk, worry, severity and control across multiple diseases. This paper examines how these perceptions vary for heart disease, diabetes, stroke, and colon, breast, and ovarian cancers. METHODS: The data for this study came from the Family Healthware Impact Trial (FHITr), conducted in the United States from 2005 to 2007. Healthy adults (N=2362) from primary care practices recorded their perceptions at baseline for each disease. Analyses were conducted controlling for study site and personal risk factors. RESULTS: Perceived risk was significantly higher for cancers than for other diseases. Men worried most about getting heart disease; women worried most about getting breast cancer, followed by heart disease. Diabetes was perceived to be the least severe condition. Heart disease was perceived to be the most controllable compared to cancers, which were perceived to be the least controllable. Women had higher perceived risk and worry ratings compared to men for several diseases. CONCLUSIONS: These data highlight how individuals comparatively view chronic diseases. Addressing prior disease perceptions when communicating multiple disease risks may facilitate an accurate understanding of risk for diseases, and help individuals to effectively identify and engage in relevant behaviors to reduce their risk.

Genetic Counselors' Approach To Postmortem Genetic Testing After Sudden Death: An Exploratory Study.

A significant portion of sudden death cases result from an underlying genetic etiology, which may be determined through postmortem genetic testing. The National Association of Medical Examiners (NAME) recommends that an appropriate postmortem sample is saved on all sudden death cases under the age of 40. Genetic counselors (GCs) play an important role in this process by working with medical examiners and coroners (ME/Cs) to recommend and interpret specific testing and to guide family members. A survey sent to the National Society of Genetic Counselors was designed and implemented to learn more about the experiences of genetic counselors who had considered or ordered postmortem genetic testing. Results showed that cardiovascular GCs were significantly more willing to recommend genetic testing in younger age decedents (ages 10, 18, 30, 40, and 50) compared to other specialty GCs (p<0.05, Chi-square). Thirty-seven percent (7 of 19) of GCs reported insurance covering some portion of genetic testing. Participants also reported highest success for DNA extractions with fresh and frozen blood, reinforcing NAME recommendations for appropriate sample collection for postmortem genetic testing. Overall, participating GCs demonstrated a very good understanding for the appropriate use of postmortem genetic testing and did identify suspected barriers of cost and lack of insurance coverage as deterrents. With the rapid decrease in costs for diagnostic genetic testing, ME/C awareness of NAME recommendations for sample collection and storage remain important to facilitate postmortem genetic testing.

Mathematical modeling for breast cancer risk assessment. State of the art and role in medicine.

Women at increased risk of breast cancer have important opportunities for early detection and prevention. There are, however, serious drawbacks to the available interventions. The magnitude of breast cancer risk is a crucial factor in the optimization of medical benefit when considering the efficacy of risk-reduction methods, the adverse effects of intervention, and economic and quality-of-life outcomes. Breast cancer risk assessment has become increasingly quantitative and is amenable to computerization. The assembly of risk factor information into practical, quantitative models for clinical and scientific use is relatively advanced for breast cancer, and represents a paradigm for broader risk management in medicine. Using a case-based approach, we will summarize the major breast cancer risk assessment models, compare and contrast their utility, and illustrate the role of genetic testing in risk management. Important considerations relevant to clinical oncology practice include the role of risk assessment in cancer prevention, the logistics of implementing risk assessment, the ramifications of conveying risk information with limited genetic counseling, and the mechanisms for genetics referral. Medical professionals can embrace new preventive medicine techniques more effectively by utilizing quantitative methods to assess their patients' risks.

Family history assessment: impact on disease risk perceptions.

BACKGROUND: Family Healthware™, a tool developed by the CDC, is a self-administered web-based family history tool that assesses familial risk for six diseases (coronary heart disease; stroke; diabetes; and colon, breast, and ovarian cancers) and provides personalized prevention messages based on risk. The Family Healthware Impact Trial (FHITr) set out to examine the clinical utility of presenting personalized preventive messages tailored to family history risk for improving health behaviors. PURPOSE: The purpose of this study was to examine the impact of Family Healthware on modifying disease risk perceptions, particularly among those who initially underestimated their risk for certain diseases. DESIGN: A total of 3786 patients were enrolled in a cluster-randomized trial to evaluate the clinical utility of Family Healthware. SETTING/PARTICIPANTS: Participants were recruited from 41 primary care practices among 13 states between 2005 and 2007. MAIN OUTCOME MEASURES: Perceived risk for each disease was assessed at baseline and 6-month follow-up using a single-item comparative risk question. Analyses were completed in March 2012. RESULTS: Compared to controls, Family Healthware increased risk perceptions among those who underestimated their risk for heart disease (15% vs 9%, p<0.005); stroke (11% vs 8%, p<0.05); diabetes (18% vs 11%, p<0.05); and colon cancer (17% vs 10%, p=0.05) but not breast or ovarian cancers. The majority of underestimators did not shift in their disease risk perceptions. CONCLUSIONS: Family Healthware was effective at increasing disease risk perceptions, particularly for metabolic conditions, among those who underestimated their risk. Results from this study also demonstrate the relatively resistant nature of risk perceptions. TRIAL REGISTRATION: This study is registered at clinicaltrials.govNCT00164658.

Health beliefs among individuals at increased familial risk for type 2 diabetes: implications for prevention.

AIM: To evaluate perceived risk, control, worry, and severity about diabetes, coronary heart disease (CHD) and stroke among individuals at increased familial risk of diabetes. METHODS: Data analyses were based on the Family Healthware™ Impact Trial. Baseline health beliefs were compared across three groups: (1) no family history of diabetes, CHD or stroke (n=836), (2) family history of diabetes alone (n=267), and (3) family history of diabetes and CHD and/or stroke (n=978). RESULTS: After adjusting for age, gender, race, education and BMI, scores for perceived risk for diabetes (p<0.0001), CHD (p<0.0001) and stroke (p<0.0001) were lowest in Group 1 and highest in Group 3. Similar results were observed about worry for diabetes (p<0.0001), CHD (p<0.0001) and stroke (p<0.0001). Perceptions of control or severity for diabetes, CHD or stroke did not vary across the three groups. CONCLUSIONS: Among individuals at increased familial risk for diabetes, having family members affected with CHD and/or stroke significantly influenced perceived risk and worry. Tailored lifestyle interventions for this group that assess health beliefs and emphasize approaches for preventing diabetes, as well as its vascular complications, may be an effective strategy for reducing the global burden of these serious but related chronic disorders.

Familial risk for common diseases in primary care: the Family Healthware Impact Trial.

CONTEXT: Family history is a risk factor for many common chronic diseases, yet it remains underutilized in primary care practice. BACKGROUND: Family Healthware is a self-administered, web-based tool that assesses familial risk for CHD; stroke; diabetes; and colorectal, breast, and ovarian cancer, and provides a personalized prevention plan based on familial risk. The Family Healthware Impact Trial evaluated the tool. DESIGN: In this cluster RCT, participants completed baseline and 6-month follow-up surveys. The intervention group used Family Healthware directly after the baseline survey. Controls used the tool after completing the follow-up survey. SETTING/PARTICIPANTS: Patients aged 35-65 years with no known diagnosis of these six diseases were enrolled from 41 primary care practices. MAIN OUTCOME MEASURES: The prevalence of family-history-based risk for coronary heart disease (CHD); stroke; diabetes; and colorectal, breast, and ovarian cancer was determined in a primary care population. RESULTS: From 2005 to 2007, 3786 participants enrolled. Data analysis was undertaken from September 2007 to March 2008. Participants had a mean age of 50.6 years and were primarily white (91%) women (70%). Of the 3585 participants who completed the risk assessment tool, 82% had a strong or moderate familial risk for at least one of the diseases: CHD (strong=33%, moderate=26%); stroke (strong=15%, moderate=34%); diabetes (strong=11%, moderate=26%); colorectal cancer (strong=3%, moderate=11%); breast cancer (strong=10%, moderate=12%); and ovarian cancer (strong=4%, moderate=6%). Women had a significantly (p<0.04) higher familial risk than men for all diseases except colorectal and ovarian cancer. Overweight participants were significantly (p

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.