Twenty-six probands suffering from hidradenitis suppurativa were identified from Hospital Activity Analysis (H.A.A.) records for the period 1980-83 and by direct referral from hospital specialists over a 6-month period in 1983-84. Investigation of their families eventually confirmed a total of 62 affected individuals from 23 families. In II families there was evidence in favour of single gene or Mendelian inheritance; in another three there was familial occurrence; in nine families there was a negative family history at the time of enquiry. The disease appears to be commoner than reports suggest and it is probable that there is an underestimation of affected individuals in our community. Problems of identification including variable age of onset and psycho-social factors were found and may be responsible for false-negative family histories.
We report a 70 year old German man presenting with a three year history of progressive numbness and painful tingling and burning paraesthesiae in his hands, feet, and lower legs, which had worsened during recent months. He also reported unsteadiness of gait, fatigue, night sweats, loss of appetite, and a weight loss of 12 kg within one year. He
Aims: To determine the level of competence and confidence in general practice in relation to the management of familial cancers and to determine the impact of providing genetic educational outreach on confidence and competence. Methods: Confidence and competence in dealing with familial cancers was measured using a postal questionnaire sent to all general practitioners and practice nurses in 4 geographical areas in central England. In 2 areas, genetic educational outreach was provided to 10 randomly selected practices and a matched analysis of questionnaire responses before and after intervention was done to determine the impact of the intervention. Results: Respondents were more confident in dealing with patient queries around familial breast cancer risk than those around bowel cancer. This was inconsistent with the ability to correctly assign familial risk, with 48% incorrectly assigning a high-risk categorisation to a low-risk breast cancer scenario. Respondents who had taken part in the intervention reported more confidence in dealing with issues related to the management of patient queries around bowel cancer. Following intervention, participants were more likely to report feeling confident in knowing the relevant family history to collect (72.4% of respondents from participating practices compared to 56.1% from non-participating practices; OR 2.39, p = 0.02, 95% CI 1.14–5.00) and in making a basic assessment of risk (72.4% compared to 38.9%; OR 3.65, p = 0.01, 95% CI 1.38–9.61). Conclusions: Providing genetic educational outreach has a positive impact upon how confident primary care staff feel in dealing with patient queries over familial cancers, particularly in relation to bowel cancer. Further research is needed to explore the impact of providing this service on other relevant outcomes such as appropriateness of referrals to genetic services.
Genetic nurses and counselilors work as part of the professional team providing clinical genetic services from regional centres in the United Kingdom. The education and training needs of genetic nurses and counsellors have not previously been formally identified. The guidelines presented have been devised to equip practitioners to fulfil their professional role as defined in a previous study, by identifying objectives, educational pathways, and means of assessment. While academic courses provide an essential framework, experiential learning in a clinical setting is also considered a vital component of the preparation for practice. (JMed Genet 1998;35:410-412)
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