Genetic counselling legislation and practice in cancer in EU Member States.

BACKGROUND: Somatic and germline genetic alterations are significant drivers of cancer. Increasing integration of new technologies which profile these alterations requires timely, equitable and high-quality genetic counselling to facilitate accurate diagnoses and informed decision-making by patients and their families in preventive and clinical settings. This article aims to provide an overview of genetic counselling legislation and practice across European Union (EU) Member States to serve as a foundation for future European recommendations and action. METHODS: National legislative databases of all 27 Member States were searched using terms relevant to genetic counselling, translated as appropriate. Interviews with relevant experts from each Member State were conducted to validate legislative search results and provide detailed insights into genetic counselling practice in each country. RESULTS: Genetic counselling is included in national legislative documents of 22 of 27 Member States, with substantial variation in legal mechanisms and prescribed details (i.e. the 'who, what, when and where' of counselling). Practice is similarly varied. Workforce capacity (25 of 27 Member States) and genetic literacy (all Member States) were common reported barriers. Recognition and/or better integration of genetic counsellors and updated legislation and were most commonly noted as the 'most important change' which would improve practice. CONCLUSIONS: This review highlights substantial variability in genetic counselling across EU Member States, as well as common barriers notwithstanding this variation. Future recommendations and action should focus on addressing literacy and capacity challenges through legislative, regulatory and/or strategic approaches at EU, national, regional and/or local levels.

GYNOCARE Update: Modern Strategies to Improve Diagnosis and Treatment of Rare Gynecologic Tumors­Current Challenges and Future Directions

More than 50% of all gynecologic tumors can be classified as rare (defined as an incidence of ≤6 per 100,000 women) and usually have a poor prognosis owing to delayed diagnosis and treatment. In contrast to almost all other common solid tumors, the treatment of rare gynecologic tumors (RGT) is often based on expert opinion, retrospective studies, or extrapolation from other tumor sites with similar histology, leading to difficulty in developing guidelines for clinical practice. Currently, gynecologic cancer research, due to distinct scientific and technological challenges, is lagging behind. Moreover, the overall efforts for addressing these challenges are fragmented across different European countries and indeed, worldwide. The GYNOCARE, COST Action CA18117 (European Network for Gynecological Rare Cancer Research) programme aims to address these challenges through the creation of a unique network between key stakeholders covering distinct domains from concept to cure: basic research on RGT, biobanking, bridging with industry, and setting up the legal and regulatory requirements for international innovative clinical trials. On this basis, members of this COST Action, (Working Group 1, "Basic and Translational Research on Rare Gynecological Cancer") have decided to focus their future efforts on the development of new approaches to improve the diagnosis and treatment of RGT. Here, we provide a brief overview of the current state-of-the-art and describe the goals of this COST Action and its future challenges with the aim to stimulate discussion and promote synergy across scientists engaged in the fight against this rare cancer worldwide.

Learning from experience in a National Healthcare System: organizational dynamics that enable or inhibit change processes.

OBJECTIVE: To study the organizational dynamics that either enable or inhibit the changes needed by the system for the ongoing organizational development of the major acute general public hospital in Malta. SETTING: The main public acute general hospital in Malta. Malta is the main island of a small archipelago in the Mediterranean with a total population reaching around 460 000. DESIGN AND PARTICIPANTS: This qualitative study utilized two major research methods: action research and in-depth interviews. Data collection and analysis were guided by the grounded theory paradigm and operated within a constructivist and informed grounded theory approach. The action research was conducted through the documentation and interpretation of a practitioner-researcher experience working within a multi-disciplinary hospital team consisting of up to 15 members from different healthcare professional groups. The in-depth interviews involved 25 interviewees using theoretical sampling techniques. RESULTS: The findings affirmed the high potential and capabilities of the hospital workforce. This potential is nonetheless susceptible to be affected and gradually transformed by identified organizational and external forces into a workforce that is highly territorial, cynical and showing lack of 'ownership' of the organizational vision and objectives. The organizational culture, structures, systems and leadership as well as external factors that were frequently rooted at the national level were identified as strong impacting and underlying factors. CONCLUSIONS: A theoretical framework was generated depicting a vicious circle that needs to be broken to enable the desired organizational development and learning. This additional knowledge can be used by and inspire other organizations operating within comparable conditions.

Cutaneous melanoma in the Maltese Islands: 2000-2004.

This study aimed to, prospectively, over the 5-year period 2000-2004, accurately determine features of cutaneous melanoma in the Maltese Islands. Data from clinicians were supplemented by histology reports, and where necessary, histology slides were reviewed. Information collected included demographic details including age and gender, anatomical site, Clark's level, Breslow thickness and clinico-pathological melanoma type. During the study period the age-standardised (European Standard Population) rates for invasive melanoma were 8.81 per 100,000 (males) and 7.29 per 100,000 (females) and increased with age. By the end of the study, information on 166 cases of primary invasive cutaneous malignant melanoma were collected. The commonest site affected in males was the trunk (54%) and in females the lower limbs (41%). Overall, 33.8% of invasive melanomas had a Breslow thickness >1.5mm. The initial melanoma excision was performed by a dermatologist in 68.2% and plastic surgeon in 20.8%. More cases presented in late spring and summer, particularly in females. Melanoma incidence in Malta is lower than that in high-incidence countries and northern Europe and is similar to that in southern Europe. However, incidence appears to be increasing and a relatively high proportion of patients present with thick lesions emphasising the importance of continued efforts to diagnose cases earlier.

Breast cancer mortality patterns and time trends in 10 new EU member states: mortality declining in young women, but still increasing in the elderly.

Breast cancer is the cancer diagnosed most frequently in women worldwide. In Europe it is the most common cancer in the female population, with approximately 350,000 new cases diagnosed each year including 130,000 deaths. Incidence rates are increasing in the majority of European countries, whereas a decline in mortality rates has been observed in many West European countries since the late 1980s and early 1990s. Our study examines breast cancer mortality patterns and time trends in the new European Union (EU) member states and compares them with the situation in current EU member states. A Joinpoint regression analysis was used to assess temporal changes in mortality rates and the trends examined in the light of known risk factors, screening programs and advances in treatment. In the majority of the countries analyzed, a deceleration in the increase of mortality rates appeared, followed by a decrease of mortality in many of them in the second half of the 1990s. The declining tendency was visible primarily in young women, and to a lesser extent in middle-aged women, whereas in elderly women a continuing increase of mortality was observed. Analysis of mortality data, information from previous publications, as well as analysis of known factors influencing breast cancer risk suggest that changes observed are due mainly to recent advances in treatment rather than changes in lifestyle risk factors or the result of screening programs. Early detection and a shift toward more favorable stage distribution could have played the leading role for mortality decline in younger patients.

Lung cancer mortality patterns in selected Central, Eastern and Southern European countries.

Significant changes in the prevalence of tobacco smoking have been observed in many European countries. EU candidate countries have also experienced major changes with respect to tobacco smoking, which have resulted in changes in the frequency of lung cancer. In men in the majority of these countries, a reduction of mortality rates has been observed recently, while in Hungary and Poland a deceleration of mortality increase was observed in the 1990s. The situation is much less favorable in females, where in the majority of countries a continuous increase of mortality rates has been observed, the only exceptions being Latvia, Lithuania and, to a lesser extent, Estonia. In Hungarian women, an acceleration of the increase rate was observed in the 1980s and 1990s (compared with the 1970s). Patterns of lung cancer mortality in analyzed countries are somewhat similar to those observed in EU member states. Recent analyses of time trends of lung cancer in EU countries showed, in general, a decreasing risk in the majority of male populations and an increase in several countries in women. If the decrease of mortality is to be achieved and maintained in the longer term, efforts have to be focused on young generations (entering adulthood now or in the near future). Despite all the difficulties present in reducing tobacco smoking in youth, it seems that one of the most important ways to reduce the future lung cancer burden in current and new EU member states is to strengthen efforts toward changing smoking attitudes in young generations.