Breast cancer risk assessment: Evaluation of screening tools for genetics referral.

BACKGROUND AND PURPOSE: The United States Preventative Services Task Force (USPSTF) recommends breast cancer risk-screening tools to help primary care providers determine which unaffected patients to refer to genetic specialists. The USPSTF does not recommend one tool above others. The purpose of this study was to compare tool performance in identifying women at risk for breast cancer. METHODS: Pedigrees of 85 women aged 40-74 years with first-degree female relative with breast cancer were evaluated using five tools: Family History Screen-7 (FHS-7), Pedigree Assessment Tool, Manchester Scoring System, Referral Screening Tool, and Ontario Family History Assessment Tool (Ontario-FHAT). Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated to describe each tool's ability to identify women with elevated risk as defined by Claus Model calculations (lifetime risk ≥15%). Receiver operating curves were plotted. Differences between areas under the curve were estimated and compared through logistic regression to assess for differences in tool performance. CONCLUSIONS: Claus calculations identified 14 of 85 women with elevated risk. Two tools, Ontario-FHAT and FHS-7, identified all women with elevated risk (sensitivity 100%). The FHS-7 tool flagged all participants (specificity 0%). The Ontario-FHAT flagged 59 participants as needing referral (specificity 36.2%) and had a NPV of 100%. Area under the curve values were not significantly different between tools (all p values > .05), and thus were not helpful in discriminating between the tools. IMPLICATIONS FOR PRACTICE: The Ontario-FHAT outperformed other tools in sensitivity and NPV; however, low specificity and PPV must be balanced against these findings. Thus, the Ontario-FHAT can help determine which women would benefit from referral to genetics specialists.

Female family members lack understanding of indeterminate negative BRCA1/2 test results shared by probands.

Genetic test results have important implications for close family members. Indeterminate negative results are the most common outcome of BRCA1/2 mutation testing. Little is known about family members' understanding of indeterminate negative BRCA1/2 test results. The purpose of this mixed-methods study was to investigate how daughters and sisters received and understood genetic test results as shared by their mothers or sisters. Participants included 81 women aged 40-74 with mothers or sisters previously diagnosed with breast cancer and who received indeterminate negative BRCA1/2 test results. Participants had never been diagnosed with breast cancer nor received their own genetic testing or counseling. This Institutional Review Board-approved study utilized semi-structured interviews and surveys. Descriptive coding with theme development was used during qualitative analysis. Participants reported low amounts of information shared with them. Most women described test results as negative and incorrectly interpreted the test to mean there was no genetic component to the pattern of cancer in their families. Only seven of 81 women accurately described test results consistent with the meaning of an indeterminate negative. Our findings demonstrate that indeterminate negative genetic test results are not well understood by family members. Lack of understanding may lead to an inability to effectively communicate results to primary care providers and missed opportunities for prevention, screening, and further genetic testing. Future research should evaluate acceptability and feasibility of providing family members letters they can share with their own primary care providers.

Does family communication matter? Exploring knowledge of breast cancer genetics in cancer families.

Knowledge of breast cancer genetics is critical for those at increased hereditary risk who must make decisions about breast cancer screening options. This descriptive study explored theory-based relationships among cognitive and emotional variables related to knowledge of breast cancer genetics in cancer families. Participants included first-degree relatives of women with breast cancer who had received genetic counseling and testing. Study participants themselves did not have breast cancer and had not received genetic counseling or testing. Data were collected by telephone interviews and surveys. Variables analyzed included numeracy, health literacy, cancer-related distress, age, education, and the reported amount of information shared by the participants' family members about genetic counseling. The multiple regression model explained 13.9% of variance in knowledge of breast cancer genetics (p = 0.03). Best fit of the multiple regression model included all variables except education. Reported amount of information shared was the only independently significant factor associated with knowledge (ß = 0.28, p = 0.01). Participants who reported higher levels of information shared by a family member about information learned during a genetic counseling session also demonstrated increased knowledge about breast cancer genetics.

Breast Cancer Risk Perceptions among Relatives of Women with Uninformative Negative BRCA1/2 Test Results: The Moderating Effect of the Amount of Shared Information.

The most common result of BRCA1/2 mutation testing when performed in a family without a previously identified mutation is an uninformative negative test result. Women in these families may have an increased risk for breast cancer because of mutations in non-BRCA breast cancer predisposition genes, including moderate- or low-risk genes, or shared environmental factors. Genetic counselors often encourage counselees to share information with family members, however it is unclear how much information counselees share and the impact that shared information may have on accuracy of risk perception in family members. We evaluated 85 sisters and daughters of women who received uninformative negative BRCA1/2 results. We measured accuracy of risk perception using a latent variable model where accuracy was represented as the correlation between perceived risk (indicators = verbal and quantitative measures) and calculated risk (indicators = Claus and BRCAPRO). Participants who reported more information was shared with them by their sister or mother about her genetic counseling session had greater accuracy of risk perception (0.707, p = 0.000) than those who reported little information was shared (0.326, p = 0.003). However, counselees shared very little information; nearly 20 % of family members reported their sister or mother shared nothing with them about her genetic counseling. Family members were generally not aware of the existence of a genetic counseling summary letter. Our findings underscore the need for effective strategies that facilitate counselees to share information about their genetic counseling sessions. Such communication may help their relatives better understand their cancer risks and enhance risk appropriate cancer prevention.

Life experiences of individuals with hereditary hemorrhagic telangiectasia and disclosing outside the family: a qualitative analysis.

Hereditary hemorrhagic telangiectasia (HHT; OMIM 187300) is a disorder that affects 1:5000-1:10,000 people worldwide, with an estimated 60,000 affected individuals in the USA. Approximately 50 % of patients with HHT experience potentially life-threatening health complications such as stroke, brain abscess, or heart failure. However, the most common symptom is spontaneous and frequent nosebleeding. HHT is a hereditary condition with significant health consequences, but little is known about how individuals cope with HHT on a daily basis and how individuals share information about the disorder with social groups outside of the family. The objectives of this study were to improve understanding of the daily experiences of patients with diagnosed HHT and to investigate how they disclose their diagnosis to various social groups (friends, dating partners, employers, and coworkers) outside of their biological family. Adult patients seen at a university HHT clinic and who had been diagnosed with HHT for at least 6 months were recruited by mail. Participants completed semi-structured telephone interviews (n = 19). A qualitative content analysis of interview transcripts identified four major categories: (1) the emotional impact of HHT, (2) the social impact of HHT, (3) concerns for current and future health related to HHT, and (4) social context drives disclosure of HHT. Participants reported that although HHT was a manageable hereditary disorder, the symptoms negatively affected their daily life. It is important for health care providers to understand how individuals with rare genetic disorders are managing.

Situated peer coaching and unfolding cases in the fundamentals skills laboratory.

Using unfolding case studies and situated peer coaching for the Fundamentals Skills Laboratory provides students with individualized feedback and creates a realistic clinical learning experience. A quasi-experimental design with pre- and post-intervention data was used to evaluate changes in student ratings of the course. An instrument was used to examine students' self-ratings and student comments about each lab. We found that students' ratings of the lab remained high with the new method and self-evaluations of their performance were higher as the semester progressed. Students appreciated the personalized feedback associated with peer coaching and demonstrated strong motivation and self-regulation in learning. By participating in unfolding case studies with situated peer coaching, students focus on safety issues, practice collaborative communication, and critical thinking in addition to performing psychomotor skills.