Search

Rescue operations taking place in disaster settings can be fraught with ethical challenges. Further ethical challenges will likely be introduced by the use of robots, which are expected to soon become commonplace in search and rescue missions and disaster recovery efforts. To help focus timely reflection on the ethical considerations associated with the deployment of rescue robots, we have conducted a scoping review exploring the relevant academic literature following a widely recognized scoping review framework. Of the 429 papers identified by the first screening, six fulfilled the selection criteria of our literature review. Quantitative data synthesis showed that a subset of the papers includes a qualitative experimental exploration of the ethical issues at hand, with workshops involving both experts and potential users. Most use simulations or scenarios to anticipate the ethical implications and other consequences of using robots in search and rescue missions. Qualitative text analysis identified seven core ethically relevant themes: fairness and discrimination; false or excessive expectations; labor replacement; privacy; responsibility; safety; trust. Our results suggest that the literature on ethics in rescue robotics is scant and disparate, but the papers identified uniformly endorsed a proactive approach to handling the ethical concerns associated with the use of robots in disaster scenarios.

Background This article describes the design of an intervention study that focuses on whether and to what degree culturally competent social robots can improve health and well-being related outcomes among older adults residing long-term care homes. The trial forms the final stage of the international, multidisciplinary CARESSES project aimed at designing, developing and evaluating culturally competent robots that can assist older people according to the culture of the individual they are supporting. The importance of cultural competence has been demonstrated in previous nursing literature to be key towards improving health outcomes among patients. Method This study employed a mixed-method, single-blind, parallel-group controlled before-and-after experimental trial design that took place in England and Japan. It aimed to recruit 45 residents of long-term care homes aged ≥65 years, possess sufficient cognitive and physical health and who self-identify with the English, Indian or Japanese culture (n = 15 each). Participants were allocated to either the experimental group, control group 1 or control group 2 (all n = 15). Those allocated to the experimental group or control group 1 received a Pepper robot programmed with the CARESSES culturally competent artificial intelligence (experimental group) or a limited version of this software (control group 1) for 18 h across 2 weeks. Participants in control group 2 did not receive a robot and continued to receive care as usual. Participants could also nominate their informal carer(s) to participate. Quantitative data collection occurred at baseline, after 1 week of use, and after 2 weeks of use with the latter time-point also including qualitative semi-structured interviews that explored their experience and perceptions further. Quantitative outcomes of interest included perceptions of robotic cultural competence, health-related quality of life, loneliness, user satisfaction, attitudes towards robots and caregiver burden. Discussion This trial adds to the current preliminary and limited pool of evidence regarding the benefits of socially assistive robots for older adults which to date indicates considerable potential for improving outcomes. It is the first to assess whether and to what extent cultural competence carries importance in generating improvements to well-being. Trial registration Name of the registry: ClinicalTrials.gov Trial registration number: NCT03756194. Date of registration: 28 November 2018. URL of trial registry record.

This trial represents the final stage of the CARESSES project which aimed to develop and evaluate a culturally competent artificial intelligent system embedded into social robots to support older adult wellbeing. A parallel group, single-blind randomised controlled trial was conducted across older adult care homes in England and Japan. Participants randomly allocated to the Experimental Group or Control Group 1 received a Pepper robot for up 18 h across 2 weeks. Two versions of the CARESSES artificial intelligence were tested: a fully culturally competent system (Experimental Group) and a more limited version (Control Group 1). Control Group 2 (Care As Usual) participants did not receive a robot. Quantitative outcomes of interest reported in the current paper were health-related quality of life (SF-36), loneliness (ULS-8), and perceptions of robotic cultural competence (CCATool-Robotics). Thirty-three residents completed all procedures. The difference in SF-36 Emotional Wellbeing scores between Experimental Group and Care As Usual participants over time was significant (F[1] = 6.614, sig = .019, ηp2 = .258), as was the comparison between Any Robot used and Care As Usual (F[1] = 5.128, sig = .031, ηp2 = .146). There were no significant changes in SF-36 physical health subscales. ULS-8 loneliness scores slightly improved among Experimental and Control Group 1 participants compared to Care As Usual participants, but this was not significant. This study brings new evidence which cautiously supports the value of culturally competent socially assistive robots in improving the psychological wellbeing of older adults residing in care settings.

Individuals that attend cancer genetic counseling may experience test-related psychosocial problems that deserve clinical attention. In order to provide a reliable and valid first-line screening tool for these issues, Eijzenga and coworkers developed the Psychosocial Aspects of Hereditary Cancer (PAHC) questionnaire. The aim of this work was to develop an Italian adaptation of the PAHC (I-PACH). This prospective multicenter observational study included three stages: (1) development of a provisional version of the I-PAHC; (2) pilot studies aimed at testing item readability and revising the questionnaire; and (3) a main study aimed at testing the reliability and validity of the final version of the I-PAHC with the administration of a battery comprising measures of depression, anxiety, worry, stress, and life problems to 271 counselees from four cancer genetic clinics. Adapting the original PAHC to the Italian context involved adding two further domains and expanding the emotions domain to include positive emotions. While most of the items were found to be easy to understand and score, some required revision to improve comprehensibility; others were considered irrelevant or redundant and therefore deleted. The final version showed adequate reliability and validity. The I-PAHC provides comprehensive content coverage of cancer genetic-specific psychosocial problems, is well accepted by counselees, and can be considered a sound assessment tool for psychosocial issues related to cancer genetic counseling and risk assessment in Italy.

The 2020 COVID‐19 pandemic has rendered in‐person provision of genetic counseling impossible for prolonged periods in many countries, mandating a sudden shift to remote delivery. We used qualitative thematic analysis to explore Italian genetics professionals’ experience with remote genetic counseling. Fourteen group and four individual interviews were conducted after participants had delivered one or more remote sessions via videoconference or on the telephone. Data were coded and grouped under themes. Three main themes were identified as follows: (a) technical and logistical issues, (b) communication issues, and (c) clinical content and outcome of the session. The participants acknowledged that not having to travel to the clinic saves consultands time and expense. They also highlighted that not sharing a physical space with consultands and having to rely on technology can negatively impact on effective communication, building trusting relationships, and performing accurate psychosocial assessments. Regarding the clinical content of sessions, remote genetic counseling was perceived to favor greater focus and succinct, to the point communication. However, participants also felt uncomfortable not being able to use visual aids to support the explanation of complex concepts. Moreover, demographics and the socio‐cultural status of consultands emerged as factors influencing the outcome of remote genetic counseling sessions. Finally, participants reported feeling that more experience with this novel approach would improve their confidence and their ability to adapt their counseling skills as appropriate. Based on these findings, we suggest that effective, equitable provision of remote genetic counseling will require an infrastructure that is able to support video counseling, sharing of clinical documents and visual aids, and connect with a wide range of devices. Moreover, the structure of sessions should be tailored to the specific requirements of remote genetic counseling and suitable training efforts should be promoted to enhance professionals’ communication skills.

Most studies on socially assistive robots (SARs) in elder care are conducted in care homes and recruit participants with some degree of cognitive impairment. The ethical dimension in these studies thus requires careful attention, suggesting that the researchers involved should be offered specific research ethics training. To meet this need in CARESSES—an international multidisciplinary project that aims to design and evaluate the first culturally competent SAR for the care of older adults—a research ethics training module for the project researchers was developed. The training module is largely based on case-based learning (CBL), a widely recognized approach to learning and instruction that is regarded as highly effective across multiple disciplines. In this paper, we argue that research ethics training should be offered to robotics investigators involved in research on SARs in elder care, and we provide an overview of the ethical issues involved in conducting research with SARs and older adults in care homes. Finally, we show how CBL can be used for research ethics training in this context.

The video describes the novel concept of "culturally competent robotics", which is the main focus of the project CARESSES (Culturally-Aware Robots and Environmental Sensor Systems for Elderly Support). CARESSES a multidisciplinary project whose goal is to design the first socially assistive robots that can adapt to the culture of the older people they are taking care of. Socially assistive robots are required to help the users in many ways including reminding them to take their medication, encouraging them to keep active, helping them keep in touch with family and friends. The video describes a new generation of robots that will perform their actions with attention to the older person's customs, cultural practices and individual preferences.

Objective In the era of cancer panel testing, new models of genetic counselling providing effective decision-making support are needed. As little is known about Southern European patients' and families' needs and experiences in this regard, we explored Italian women's experiences of clinical BRCA1/2 counselling and testing. Methods We interviewed 19 Italian women with a strong family history but no personal history of cancer who had had clinical BRCA1/2 testing. Interviews were recorded and transcribed, and qualitative data were organised into themes. Results Most respondents had decided to pursue testing before pre-test counselling. Although half the sample reported having reached the decision without thinking through its implications, most participants qualified their choice as unequivocally "the right one." Conclusion A subset of Italian women may arrive at their first cancer genetic consultation having already made a firm decision about testing. To empower women's decision-making, new models of cancer genetic counselling could usefully take into account differences in how they approach the testing process. This includes understanding decision-making from different cultural perspectives. In familistic countries like Italy, for example, decisional support may involve exploring widely shared assumptions regarding responsibilities towards family members and the prioritisation of family over self.

Research focusing on the development of socially assistive robots (SARs) for the care of older adults has grown in recent years, prompting a great deal of ethical analysis and reflection on the future of SARs in caring roles. Much of this ethical thinking, however, has taken place far from the settings where technological innovation is practiced. Different frameworks have been proposed to bridge this gap and enable researchers to handle the ethical dimension of technology from within the design and development process, including Value Sensitive Design (VSD). VSD has been defined as a “theoretically grounded approach to the design of technology that accounts for human values in a principled and comprehensive manner throughout the design process”. Inspired in part by VSD, we have developed a process geared towards embedding ethics at the core of CARESSES, an international multidisciplinary project that aims to design the first culturally competent SAR for the care of older adults. Here we describe that process, which included extracting key ethical concepts from relevant ethical guidelines and applying those concepts to scenarios that describe how the CARESSES robot will interact with individuals belonging to different cultures. This approach highlights the ethical implications of the robot's behavior early in the design process, thus enabling researchers to identify and engage with ethical problems proactively.

503 Background: LS is largely underdiagnosed although Universal Screening (US) in colorectal cancer (CRC) patients through MisMatch Repair deficiency (MMR-d) testing is widely endorsed. Low adherence to guidelines among oncologists may be partly due to a lack of consensus on whether all MMR-d patients should be referred to GC/Genetic Testing (GT). As BRAF mutation rules out LS, we estimated the increased yield of LS diagnosis from GC /GT which could be obtained by selecting candidates for GC through BRAF testing. Methods: From 2011 to 2016, 1447 consecutive stage I-IV CRC surgical patients at a single institution, underwent immunohistochemistry (IHC) for LS using anti MLH1, MSH2, MSH6 and PMS2 antibodies. Oncologists were invited to refer all MMR-d patients to GC/GT. BRAFV600E testing was carried out only in case of MLH1 protein loss at IHC. Results: MMR-d was found in 194 patients (13%), with 171 showing loss of MLH1 expression (88%). Oncologists referred 27 (16%) to GC. Among the 21 who underwent GC, BRAF testing and GT, 9 were BRAF wild type (wt) (43%) and none had LS. Among the 23 MMR-d patients with loss of expression of MSH2, MSH6 or PMS2 (≠MLH1), oncologists referred 9 to GC (39%): 7 underwent GC / GT and 3 carried LS (43%) at GT. Median age was 76 years (range 30-97) in the MMR-d group, 78 (range 41-97) in the MLH1 group and 63 (range 30-86) in the ≠MLH1 group. Overall, LS was diagnosed in 3 of the 28 MMR-d patients (11%) who underwent GC /GT, possibly an underestimate due to the advanced median age of our MLH1 loss patients. Had we only offered GC to the 9 BRAF wt patients among the 21 with MLH1 loss, we could have avoided 12 (57%) of the GC sessions conducted, increasing the yield of LS diagnosis from 3/28 (11%) to 3/16 (19%) (75% increase). Conclusions: When US for LS is adopted, a GC referral rate reduction of 57% among MLH1 loss patients, and an overall increase in the yield of GC of about 75% can be obtained by testing for BRAF mutation before oncologist referral to GC rather than after. As multistep selection of patients by oncologists may be unfeasible, CRC pathology reports with combined MMR-d and BRAF testing (for MLH1 loss at IHC) and an ‘LS suspicion alert’ could improve oncologists’ awareness of LS and compliance with guidelines.

Lynch syndrome is an inherited cancer syndrome caused by germline mutations in mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. LS predisposes to high risk of early-onset colorectal, endometrial and other tumors. Patients with Lynch syndrome have also been shown to have an elevated risk for pancreatic cancer (PC). In this study, we aimed to estimate the frequency of suspected Lynch syndrome among a series of 135 PC patients. Further, we wanted to determine the frequency of MMR gene mutations in the suspected Lynch syndrome cases. We also aimed to verify the pathogenicity of any novel non-truncating variants we might detect with a functional assay. Based on personal and/or familial cancer history, 19 patients were classified as suspected Lynch syndrome cases. DNA material for mutation analysis was available for eleven of them. Four patients were found to carry a total of five MLH1 or MSH2 variants. Of these, MSH2-Q402X, MSH2-G322D, and MLH1-K618A had been previously reported, while the MSH2-E205Q and MSH2-V367I variants were novel. MSH2-Q402X is a known stop mutation and reported here for the first time here in association with PC. MLH1-K618A was found in the unaffected branch of a kindred, suggesting that it may be a polymorphism or a low penetrance variant. MSH2-G322D likely does not cause a MMR defect, although this variant has also been associated with breast cancer as indeed seen in our patient. The novel variants MSH2-E205Q and MSH2-V367I were found in the same patient. Both novel variants were however functional in the applied MMR assay. Our findings suggest that only a small subset of pancreatic cancer patients carry pathogenic MMR mutations.

We evaluated the contribution of germline CDKN2A mutations and MC1R variants to the development of melanoma in a hospital-based study of single (SPM, n = 398) and multiple primary melanoma (MPM, n = 95). The overall frequency of CDKN2A mutations was 15.2%, and four-fold higher in MPM than in SPM cases (OR = 4.27; 95% CI 2.43-7.53). The likelihood of identifying a CDKN2A mutation increased with family history of melanoma and younger age at diagnosis in MPM cases. Compared to SPM patients, the risk of harboring a CDKN2A mutation rose as the number of primary melanomas increased and was not influenced by family history. The G101W and E27X founder mutations were the most common. Several other mutations (W15X, Q50X, R58X, A68L, A127P and H142R) were detected for the first time in Italian patients. One novel mutation, T77A, was identified. Several non-coding variants with unknown functional significance were also found (5'UTR -25C > T, -21C > T, -67G > C, IVS1 +37G > C); the novel 5'UTR -21C > T variant was not detected in controls. The CDKN2A A148T polymorphism was more frequent in MPM patients than in the control population (15.7% versus 6.6%). Compared to the SPM patients, MPM cases had a 2-fold increased probability of being MC1R variant carriers and a higher probability of carrying two or more variants. No specific association was observed between the type of variant and the number of melanomas, suggesting that the number rather than the type of MC1R variant increases the risk of MPM. We observed no interaction between CDKN2A status and the presence of MC1R variants. The high frequency of CDKN2A mutations in our MPM cases, independent of their family history, is of relevance to genetic counseling and testing in our population.

Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors of the gastrointestinal tract. Most (80 %) contain activating mutations in the KIT receptor tyrosine kinase, roughly 10 % in platelet-derived growth factor receptor-alpha (PDGFRA). In a small subset, BRAF mutations are an alternative molecular pathway. GISTs respond well to imatinib, but low response is seen in patients with wild-type KIT or PDGFRA. Resistance has also been reported as a result of mutations in downstream effectors such as BRAF. We provide here a molecular characterization of a series of primary GISTs from Italian patients. Of 121 GIST cases diagnosed between 2000 and 2012, 83 were evaluated by PCR amplification and direct sequencing for mutations in KIT exons 8, 9, 11, 13, and 17, PDGFRA exons 12, 14, and 18, and BRAF exon 15. Eighty-one GISTs also underwent K-RAS testing. Sixty-four GISTs were positive: 55 had mutations in KIT and 9 in PDGFRA; 16 patients were mutation negative. Three samples came from NF1 patients and were KIT- and PDGFRA negative. Overall, we identified six novel mutations in KIT (p.K550_M552delinsL, p.Q556_W557delinsG p.Q556_G575del, p.W557_V559delinsQ p.P573_R588dup, p.G592_K593dup) and one novel mutation in PDGFRA (p.D842_N848delinsVDV), thus contributing to widening the spectrum of known mutations in GIST tumors and confirming the most frequently altered regions underlying GIST development. Among the 64 KIT- and PDGFRA-positive sporadic patients in our series, no BRAF or KRAS mutations were identified, suggesting that co-occurrence of these mutations is likely to be rare in the northwestern Italian population and not a frequent cause of primary resistance to imatinib in KIT-positive GIST patients.

In their interesting paper “Definitions of genetic testing in European legal documents,” Varga et al. (2012) provide an extensive assessment of how European and other legislation and policy instruments define genetic testing. They found that the definitions used across documents lacked a general consensus, showed that a definition of genetic testing was more often provided in non-binding than in binding instruments, and emphasized that a differentiation needs to be made between clinical genetic testing, genetics laboratory-based genetic testing, and genetic information. Overall, the authors analyzed 59 legal documents; one of which is a policy instrument by the Italian National Bioethics Committee (NBC) (1999). However, four further Italian legal documents (two policy papers and two binding instruments) define genetic testing. We thus provide a brief description of these documents and of the definitions for genetic testing they set forth and compare them with the findings of Varga et al., with the aim of contributing to a more complete and accurate view of how European legislation and policy instruments define genetic testing. The first policy instrument we refer to is the 1998 paper by the Italian National Committee for Biosecurity, Biotechnology and Life Sciences (NCBBLS) entitled “Guidelines for Genetic Testing” (Italian National Committee for Biosecurity 1998). The aim of this paper was to provide a reference framework to healthcare and laboratory professionals involved in genetic testing, with the overall purpose of ensuring that genetic testing is safe and effective, is used appropriately, is performed in accordance with high quality standards, and is offered to users whose decisional autonomy is fully respected and who are given appropriate social and psychological support. The second policy instrument is the 2011 position paper “Genetic Susceptibility Testing and Personalized Medicine” (Italian National Bioethics Committee and Italian National Committee for Biosecurity and Life Sciences Joint Working Group 2010) by the NBC/NCBBLS joint working group. The aim of this paper was to provide the general public with a critical assessment of the current and potential value of genome-wide testing in terms of clinical validity and clinical utility. Of the two binding instruments, the first is an agreement reached in 2004 by the Italian Ministry of Health and regional health authorities, the “Guidelines for Medical Genetics Activities” (Permanent Conference of the State and the Regions and the Autonomous Provinces of Trento and Bolzano 2004), which regulates medical genetics services. This binding instrument mainly focuses on the organization of clinical medical genetic services and laboratories, on the requirements that such facilities must meet, and on the training of medical genetic professionals. The second binding document is a regulation that is periodically issued by the Italian Data Protection Authority, the “General Authorization for the Processing of Genetic Data” (Italian Data Protection Authority 2011). The main purpose of the authorization is to establish the purposes for and mechanisms whereby genetic data can be processed. It is a soft-law instrument that would typically lack binding force but benefits from a hybrid status, as the Italian Data Protection Code confers such force to provisions dealing with genetic information (Republic of Italy 2003). In its current version (Italian Data Protection Authority 2011), the authorization sets forth an extensive list of definitions for genetic testing and related concepts (Battistuzzi et al. 2012). We have analyzed the definitions of genetic testing laid out in these documents according to the criteria applied by Vargas et al.; the results are shown in Table 1. Table 1 Items covered by the definitions of genetic testing contained in Italian policy and legislation documents We observed that none of the Italian documents, including those that are specifically concerned with data protection, personal rights, and privacy, mention family history or routine laboratory tests as sources of genetic information. Interestingly, the analysis of Varga et al. shows that roughly a third of the European documents (21/59) include family history, and only nine mention routine laboratory tests, as “materials” or “methods” from which genetic information can be obtained. It has been suggested that definitions associated with genetic information often center on genetic testing because it may be easier to specify and control due to its more recent and less well-established medical and social role, as opposed to family history or routine tests (Parthasarathy 2004). However, because family pedigrees can be important indicators of genetic risk and genetic information can be derived from nongenetic laboratory tests, the absence of these contexts of application from the definitions of genetic testing contained in the Italian instruments we identified, as well as from most of the European documents reviewed by Varga et al., seems to reflect an incomplete understanding of what the term genetic testing may encompass. Another result worth pointing out has to do with prenatal genetic testing and preimplantation genetic diagnosis (PGD). Prenatal testing is included as one of the possible types of testing in the definition of genetic testing provided by just one of the Italian documents. The others discuss prenatal testing, but place it under the wider umbrella of diagnostic and presymptomatic testing. As for PGD, it is completely absent from all of the Italian instruments. According to the review of Varga et al., just over half (34/59) of the European documents’ definitions of genetic testing include either PGD or prenatal testing. In the case of PGD, this may be explained by the fact that its legal status has seen numerous, often controversial, developments, both in Italy (Levi Setti et al. 2011; Republic of Italy 2004) and in other European countries such as Germany (Tuffs 2011). Prenatal testing, however, is one of the most widely employed clinical applications of molecular genetics. That it is not mentioned as one of the settings for genetic testing in so large a subset of the legal instruments discussed here indicates that widespread difficulties exist in the use of appropriate, well-defined terminology. Overall, despite the shortcomings described above, we found that the four Italian documents clearly distinguish between clinical and nonclinical genetic testing, take into account the setting for clinical applications, and discriminate between diagnostic testing and the range of predictive tests conducted in healthy individuals. Most importantly, their definitions of genetic testing show a good degree of consensus, providing a framework that appears to be both coherent and enforceable (Sequeiros 2010). These results contrast with the conclusions of Varga et al. that the definitions set forth in the European instruments they surveyed suffered from extreme variability, and sometimes displayed a lack of clarity and precision, and point to how eliminating language barriers and providing international accessibility of national hard- and soft-law instruments would allow for more accurate analyses of legal data coming from different sources.

Host, environmental and genetic factors differently modulate cutaneous melanoma (CM) risk across populations. Currently, the main genetic risk determinants are germline mutations in the major known high-risk susceptibility genes, CDKN2A and CDK4, and variants of the low-risk gene MC1R, which is key in the pigmentation process. This case-control study aimed at investigating the influence of the main host and environmental risk factors and of MC1R variation on CM risk in 390 CDKN2A-negative and 49 CDKN2A-positive Italian individuals. Multivariate analysis showed that MC1R variation, number of nevi and childhood sunburns doubled CM risk in CDKN2A-negative individuals. In CDKN2A-positive individuals, family history of CM and presence of atypical nevi, rather than MC1R status, modified risk (20.75- and 2.83-fold, respectively). Occupational sun exposure increased CM risk (three to sixfold) in both CDKN2A-negative and CDKN2A-positive individuals, reflecting the occupational habits of the Ligurian population and the geographical position of Liguria.

Battistuzzi L, Ciliberti R, Forzano F, De Stefano F. Regulating the communication of genetic risk information: the Italian legal approach to questions of confidentiality and disclosure. Communication of genetic risk is a complex process in which the rights of the individual and those of relatives may conflict with regard to the information revealed by DNA testing. If patients who participate in clinical genetic testing refuse to share their genetic information with at-risk relatives, healthcare professionals need to reach a proper ethical balance between the right of individual patients regarding the confidentiality of their genetic test result and the right of families to be informed about their genetic risk. Rules and legislation in most countries generally protect the confidentiality of medical information but allow limited disclosure of genetic test results without the patient's consent in specific cases when certain conditions are met. The aim of this article is to draw attention to how Italian policymakers have attempted to balance protection of autonomy and confidentiality, and protection of health by means of a hybrid instrument. Furthermore, we show that some of the requirements of that instrument depart from the most widely recognized standards for non-consensual disclosure of genetic risk information, while at the same time allowing an unusually high level of discretion to healthcare professionals involved in genetic counseling and testing.

OBJECTIVE To examine the frequency and correlates of skin examination behaviors in an international sample of individuals at varying risk of developing melanoma. DESIGN A cross-sectional, web-based survey. SETTING Data were collected from the general population over a 20-month period on behalf of the Melanoma Genetics Consortium (GenoMEL). PARTICIPANTS A total of 8178 adults from Northern (32%), Central (33%), and Southern (14%) Europe, Australia (13%), and the United States (8%). MAIN OUTCOME MEASURES Self-reported frequency of skin self-examination (SSE) and clinical skin examination (CSE). RESULTS After adjustment for age and sex, frequency of skin examination was higher in both Australia (odds ratio [OR]SSE=1.80 [99% CI, 1.49-2.18]; ORCSE=2.68 [99% CI, 2.23-3.23]) and the United States (ORSSE=2.28 [99% CI, 1.76-2.94]; ORCSE=3.39 [99% CI, 2.60-4.18]) than in the 3 European regions combined. Within Europe, participants from Southern Europe reported higher rates of SSE than those in Northern Europe (ORSSE=1.61 [99% CI, 1.31-1.97]), and frequency of CSE was higher in both Central (ORCSE=1.47 [99% CI, 1.22-1.78]) and Southern Europe (ORCSE=3.46 [99% CI, 2.78, 4.31]) than in Northern Europe. Skin examination behavior also varied according to melanoma history: participants with no history of melanoma reported the lowest levels of skin examination, while participants with a previous melanoma diagnosis reported the highest levels. After adjustment for region, and taking into account the role of age, sex, skin type, and mole count, engagement in SSE and CSE was associated with a range of psychosocial factors, including perceived risk of developing melanoma; perceived benefits of, and barriers to, skin examination; perceived confidence in one's ability to engage in screening; and social norms. In addition, among those with no history of melanoma, higher cancer-related worry was associated with greater frequency of SSE. CONCLUSIONS Given the strong association between psychosocial factors and skin examination behaviors, particularly among people with no history of melanoma, we recommend that greater attempts be made to integrate psycho-education into the fabric of public health initiatives and clinical care, with clinicians, researchers, and advocacy groups playing a key role in guiding individuals to appropriate tools and resources.

Cutaneous melanoma continues to increase in incidence in many countries, and intentional tanning is a risk factor for melanoma. The aim of this study was to understand how melanoma risk factors, perceived threat and preferences for a suntan relate to intentional tanning. Self-report data were collected on behalf of GenoMEL (www.genomel.org) from the general population using an online survey. A total of 8178 individuals completed the survey, with 72.8% of respondents being from Europe, 12.1% from Australia, 7.1% from the US, 2.5% from Israel and 5.5% from other countries. Seven percent of respondents had previously been diagnosed with melanoma and 8% had at least one first-degree relative with a previous melanoma. Overall, 70% reported some degree of intentional tanning during the past year, and 38% of respondents previously diagnosed with melanoma had intentionally tanned. The total number of risk factors was positively correlated with perceived risk of melanoma [correlation coefficient (rho) = 0.27], and negatively correlated with intentional tanning (rho = -0.16). Preference for a dark suntan was the strongest predictor of intentional tanning [regression coefficient (beta)= 0.35, P

Background: The incidence of melanoma continues to increase in many countries, and primary prevention of melanoma includes avoidance of sunburn as well as adequate sun protection behavior. The aim of this study was to examine the prevalence of self-reported sun protection behaviors and sunburn in users of the Internet, and to identify the demographic, clinical, and attitudinal/motivational correlates of sun protection behaviors. Methods: Self-report data were gathered on behalf of the GenoMEL consortium using an online survey available in 10 different languages, and 8,178 individuals successfully completed at least 80% of survey items, with 73% of respondents from Europe, 12% from Australia, 7% from the United States, 2% from Israel, and 6% from other countries. Results: Half of all respondents and 27% of those with a previous melanoma reported at least one severe sunburn during the previous 12 months. The strongest factors associated with sun protection behavior were perceived barriers to protection (β = −0.44/β = −0.37), and respondents who reported a positive attitude toward suntans were less likely to protect (β = −0.16/β = −0.14). Reported use of protective clothing and shade, as well as avoidance of midday sun exposure, were more strongly related to reduced risk of sunburn than sunscreen use. Conclusions: Despite widespread dissemination of public health messages about the importance of sun protection, a substantial proportion of this international sample, including respondents with a previous melanoma, reported inadequate sun protection behaviors resulting in severe sunburn. Impact: Future strategies to decrease sunburn should target the practical, social, and psychological barriers associated with nonuptake of sun protection. Cancer Epidemiol Biomarkers Prev; 19(9); 2199–210. ©2010 AACR.

Gorlin syndrome (GS) is inherited in an autosomal dominant pattern with high-penetrance and is characterized by a range of developmental anomalies and increased risk of developing basal cell carcinoma and medulloblastoma. Between 50% and 85% of patients with GS harbor germ line mutations in the only susceptibility gene identified to date, PTCH1, a key component in the Sonic Hedgehog signaling pathway. Another component in this pathway, SUFU, is known to be involved in susceptibility to medulloblastoma but has never been reported in GS patients to date. We have identified the known c.1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma. This is the first report of a germ line SUFU mutation associated with GS.