BackgroundPatients at higher than average risk of heritable cancer may process risk information differently than the general population. However, little is known about clinical, demographic, or psychosocial predictors that may impact risk perception in these groups. The objective of this study was to characterize factors associated with perceived risk of developing cancer in groups at high risk for cancer based on genetics or family history.MethodsWe searched Ovid MEDLINE, Ovid Embase, Ovid PsycInfo, and Scopus from inception through April 2009 for English-language, original investigations in humans using core concepts of "risk" and "cancer." We abstracted key information and then further restricted articles dealing with perceived risk of developing cancer due to inherited risk.ResultsOf 1028 titles identified, 53 articles met our criteria. Most (92%) used an observational design and focused on women (70%) with a family history of or contemplating genetic testing for breast cancer. Of the 53 studies, 36 focused on patients who had not had genetic testing for cancer risk, 17 included studies of patients who had undergone genetic testing for cancer risk. Family history of cancer, previous prophylactic tests and treatments, and younger age were associated with cancer risk perception. In addition, beliefs about the preventability and severity of cancer, personality factors such as "monitoring" personality, the ability to process numerical information, as well as distress/worry also were associated with cancer risk perception. Few studies addressed non-breast cancer or risk perception in specific demographic groups (e.g. elderly or minority groups) and few employed theory-driven analytic strategies to decipher interrelationships of factors.ConclusionsSeveral factors influence cancer risk perception in patients at elevated risk for cancer. The science of characterizing and improving risk perception in cancer for high risk groups, although evolving, is still relatively undeveloped in several key topic areas including cancers other than breast and in specific populations. Future rigorous risk perception research using experimental designs and focused on cancers other than breast would advance the field.

Objective: To assess the impact of direct-to-consumer (DTC) predictive genomic risk information on perceived risk and worry in the context of routine clinical care. Patients and MethOds:Patients attending a preventive medicine clinic between June 1 and December 18, 2009, were randomly assigned to receive either genomic risk information from a DTC product plus usual care (n=74) or usual care alone (n=76). At intervals of 1 week and 1 year after their clinic visit, participants completed surveys containing validated measures of risk perception and levels of worry associated with the 12 conditions assessed by the DTC product. [P=.02]). Although differences were not significant, they also reported higher levels of worry for 7 conditions and lower levels for 5 others. At 1 year, there were no significant differences between groups.cOnclusiOn: Predictive genomic risk information modestly influences risk perception and worry. The extent and direction of this influence may depend on the condition being tested and its baseline prominence in preventive health care and may attenuate with time.

Purpose: Frameworks highlighting disease actionability and severity are evolving to address the need to organize results from genome-wide analyses. This approach represents a paradigm shift from consultations focused on one or more genes to multiple genes for multiple disorders. Empirical input from the general population is lacking, yet seems essential for understanding how to maximize patient autonomy and satisfaction in the decision-making process. Methods: We conducted a cross-sectional online survey with a representative sample of 900 US adults and assessed the participants' perceptions and attitudes toward disease actionability and severity, ranking hypothetical scenarios for these properties, and explored correlations with interest in learning test results. Results: Most respondents (>85%) rated actionability and severity as useful concepts; 46.6% indicated actionability alone would be adequate for decision making. Over half of them (53.8%) reported being very/extremely confident in their ability to score for actionability and severity. The participants' scoring of medical scenarios varied significantly between individuals. Scores for severity but not actionability were correlated with interest in learning genetic results. Subsets of the respondents projected wanting all results (30%) or no results (16%). The use of expert-created lists was acceptable to 43%. Conclusions: The respondents from the general population were confident in making their own decisions. The responses suggested different priorities than current expert-driven approaches. The emphasis on binning genes may be missing a complementary, simplifying approach of grouping patients based upon their all/none interest in genomic results. This study illuminates important differences between the general public and genetic experts.

There is consensus internationally that research participants should be offered the opportunity to receive clinically relevant genetic information identified through research, but there is little empirical peer-reviewed work documenting this process. We report the experience of conducting genetic research with nearly 35,000 participants in the Colon Cancer Family Registry, based in the USA, Canada, Australia, and New Zealand. Investigators from six multinational sites provided information about disclosure protocols, implementation, and uptake of genetic results and made suggestions to inform practice. Across 5 of the 6 registry sites, 1,634 participants in families with mismatch repair or MutYH gene muta- Genet (2014) 5:99-108 DOI 10.1007 effort to return results. We offer suggestions in five key areas: (1) planning for the disclosure process, (2) participant information, (3) autonomy of participants, (4) monitoring scientific progress, and (5) involvement of stakeholders. Despite increasing discussion of the importance of returning incidental findings from genetic research, this paper highlights the considerable diversity, challenges, and costs faced in practice when returning expected findings with established utility and validity. We argue that more work is needed to ensure that genetic results in research are optimally managed.

Purpose Few studies have examined methods to promote communication following the return of DNA mismatch repair (MMR) genetic test results obtained during research. The purpose of the present study was to evaluate a telephone protocol for returning research results of MMR gene testing to identify Lynch Syndrome. Methods We invited individuals with known MMR mutations in their family who were enrolled in the Colon Cancer Family Registry at the Mayo Clinic to participate. Participants completed surveys before and 6-months after MMR test result disclosure. Results Among 107 participants, 79% opted to learn their MMR test results; of these, 44 (41%) carried MMR mutations. Post-disclosure, 54% reported screening for any type of cancer. Among carriers, >74% reported communicating results to family; communication was predicted by baseline confidence in coping with the genetic test result (Z=1.97, P=.04). Result disclosure to a physician was predicted by greater perceived cancer risk (Z=2.08, P=.03) and greater intention to share results with family (Z=3.07, P=.002). Conclusions Research vs. clinically-based gene disclosure presents challenges. A telephone disclosure process for the return of research-based results among Lynch syndrome families led to high rates of result uptake and participant communication of results to providers and family members.

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Objective: Mother-daughter communication may be a potential pathway between family history and cancer prevention behavior. We examined the degree to which mothers reported providing advice on breast cancer prevention to their daughters, the content of such advice, and correlates of providing such advice. Methods: Data were collected via a mailed questionnaire to 1773 women from 355 families in the Minnesota Breast Cancer Family Study. Women were asked whether or not they had provided advice to their daughters on what they should do to prevent breast cancer. An additional open-ended question asked them to describe the types of advice they had provided. Results: Nine hundred seventy-six (55%) of the women reported providing breast cancer prevention advice to their daughters. The most frequent types of advice were to have a mammogram (51%), perform breast self-examination (BSE) (39%), have a clinical breast examination (CBE) (30%), and maintain a healthy lifestyle (21%). From multivariate logistic regression, older age (p Ͻ 0.001), having a personal history of breast cancer (p Ͻ 0.001), higher degree of breast cancer worry/concern (p Ͻ 0.001), engaging in a higher number of health-promoting behaviors (p Ͻ 0.001), and ever performing a BSE (p ϭ 0.04) were factors independently associated with the provision of advice. Analyses accounting for sample nonindependence did not change our results. Conclusions: Breast cancer prevention behaviors were associated with providing advice. By better understanding the pathways through which breast cancer family history is associated with screening mammography and other prevention behaviors, researchers can develop more effective, tailored prevention interventions at the family level. 1017

BackgroundPancreatic cancer (PC) is considered the most lethal cancer and approximately 10% of PC is hereditary. The purpose of the study was to assess attitudes of at-risk family members with two or more relatives affected with pancreas cancer (PC) toward PC risk and future screening options.MethodsAt-risk family members and primary care controls were surveyed regarding perceived PC risk, PC worry/concern, attitude toward cancer screening, screening test accuracy, and intentions regarding PC screening via blood testing or more invasive endoscopic ultrasound (EUS).ResultsPC family members reported greater perceived risk of PC than controls (54% vs. 6%, respectively, p < 0.0001). PC family members also reported higher levels of PC worry/concern than controls (p < 0.0001), although 19% of PC family members indicated they were “not at all concerned” about getting PC. PC family members indicated greater acceptance of a false-negative result on a PC screening test relative to controls (12% vs. 8%, p = 0.02). Both groups reported high (>89%) receptivity to the potential PC screening options presented, though receptivity was greater among PC family members as compared to controls (p < 0.0001) for EUS. In multivariable analyses, degree of PC concern (p < 0.0001) was associated with intention to screen for PC by blood test and EUS, while perceived PC risk was associated with likelihood of undergoing EUS only (p < 0.0001).ConclusionsReceptivity to screening options for PC appears high. Clinicians should address behavioral and genetic risk factors for PC and foster appropriate concern regarding PC risk among at-risk individuals.