Kevin McDonald

Storytellers as partners in developing a genetics education resource for health professionals

Summary Advances in genetics are bringing unprecedented opportunities for understanding health and disease, developing new therapies and changes in healthcare practice. Many nurses and midwives lack competence and confidence in integrating genetics into professional practice. One approach to enhance understanding of genetics is to simulate clinical exposure through storytelling. Stories are acknowledged as a powerful learning tool, being understandable and memorable, stimulating critical thinking, and linking theory to practice. Telling Stories, Understanding Real Life Genetics is a freely accessible website that sets peoples stories within an education framework. The links between the stories and professional practice are made explicit and additional features support learning and teaching. Care of the storytellers within an ethical framework is of paramount importance. Storytellers are viewed as partners in the project. The challenges encountered include preserving the authentic voice and dignity of the storyteller. Project team members have also experienced ‘professional shame’ when negative experiences have been recounted, and the stories have had an impact on the team. The experience of working with storytellers has been positive. The storytellers want to be heard so that others will benefit from their stories. They serve as a reminder of why this work is important.

An objective approach to evaluating an internet-delivered genetics education resource developed for nurses: using Google Analytics™ to monitor global visitor engagement

The rapid increase in gene-disease discoveries offers real promise of clinical applications for people and families affected by genetic conditions but for which health professionals are not prepared because of lack of training. The availability of clinically relevant education resources is critical to enabling nurses to develop the appropriate genetics-genomics knowledge and skills to provide optimum care for individuals and families. The Internet is a core resource to support teaching and learning in nurse education. Evaluating such resources is important to maximise the education experience, particularly for subjects traditionally perceived by nurses as being difficult. Telling Stories, Understanding Real Life Genetics is a web-based educational resource. It uses real accounts from individuals and professionals to promote understanding of the impact of genetics-genomics on the lives of people and their families. Google Analytics™ Web analytics service provides time series data for analysing web usage to optimise website effectiveness. We present data of visitor activity and behaviour from 123 countries over three years from 2009–2011 and consider how the application of the web analytics informs approaches to enhancing visibility of the website, provides an indicator of engagement with genetics-genomics both nationally and globally, and informs future expansion of the site as a global resource for health professional education. Telling Stories is an accessible, broad-reaching resource that is of global relevance for health professionals, attracting over 33,500 visitors between 2009–2011, with steadily increasing numbers of returning visitors. The United Kingdom, United States, Canada and the Netherlands are the largest site users. Returning visitors spend significantly more time on site and view more pages than new visitors. Most referring sites are education establishments. More needs to be done now to enhance the site’s accessibility for people of other languages and cultures.

Public Attitudes to Human Gene Therapy: A Pilot Study in Wales

Objective: This study aimed to explore some factors influencing perceptions of human gene therapy. Method: A small qualitative study using two semi-structured interviews per participant (n = 22). The groups comprised (1) people with cystic fibrosis and members of their family (n = 9), and (2) students from a science evening class as well as lay members of the public selected from the practice list of a local general practitioner (n = 13). Results: This pilot study demonstrates support for somatic gene therapy and ambivalence about germline gene therapy. A clear distinction is drawn between therapy and enhancement, with the majority opposing gene enhancement. Conclusions: Attitudes towards the acceptability of gene therapy are not necessarily determined by experience of, or exposure to, a genetic condition. More research is needed with the general public to determine what is perceived to be acceptable public policy in this field.

Primary care referrals to a British regional cancer genetics service

The Cancer Genetics Service for Wales (CGSW) accepts referrals from primary and secondary care for patients at risk, or at a perceived risk, of developing breast, ovarian, colorectal or other cancers with an inherited component. Between July 1998–June 2006, 10878 referrals were sent to clinics in Cardiff (4992, 46%), Swansea (3212, 29%) and Rhyl (2548, 23%). Guidelines to assist referrers when to make a referral were developed by a multi-disciplinary committee and GP focus groups and were issued to all hospital consultants and GPs in 2000. These guidelines specify the number of affected relatives, the closeness of the relationship and in some cases the age of the affected relatives, and vary for the type of cancer under consideration. Based on the results of a questionnaire sent to all referred patients and information from the referral letter, a computerassisted assessment categorises patients into a risk group; average, moderate or high risk. Average risk means that a patient is not at a risk level raised to a significant degree above that of the general population, and therefore, extra surveillance is unnecessary. Patients in this category have the same risk of developing cancer as any other individual of the same age in the general population. Such patients are advised to continue health monitoring as they would normally and their care is passed to their GP. Moderate-risk patients require ongoing primary care management and appropriate specialist intervention; for example, a local breast surgeon. Those patients in the high-risk category are typically offered a genetic clinic appointment in addition to specialist surveillance and genetic testing when relevant.

A pilot study of spatial patterns in referrals to a multicentre cancer genetics service.

Objectives: To analyse spatial and temporal patterns in patients referred to a cancer genetics service in order to monitor service utilization and accessibility. Methods: Postcodes of patients during a 4-year period were used to examine spatial patterns using a Geographical Information System (GIS). Referral rates were compared visually and statistically to explore yearly variation for administrative areas in Wales. Results: There has been a four-fold increase in actual referrals to the service over the period of study. The variance between unitary authority referral rates has decreased from the inception of the service from an almost ten-fold difference between lowest and highest in year 1 to less than a three-fold difference in year 4. Conclusions: This study shows the potential of GIS to highlight spatial variations in referral rates across Wales. Although the disparity in referral rates has decreased, trends in referral rates are not consistent. Ongoing research will examine those referral and referrer characteristics affecting uptake.

Analysing spatial trends in referral patterns to cancer genetics services: a preliminary investigation of regional variations in Wales

This paper discusses spatial trends in referral patterns to a cancer genetics service. It presents a literature review outlining the paucity of existing research, a preliminary analysis at the Unitary Authority level in Wales and advances a programme of further research to be conducted at a more detailed spatial level. The preliminary analysis shows a weak negative relationship between referral rates from primary care and social deprivation by Unitary Authority (Spearman rank correlation coefficient, σ = -0.38). There is also a weak positive relationship between average settlement size and referral rates (σ = +0.28), which taken together may indicate that primary care practices in affluent urban areas are more likely to refer than those in poorer rural areas. Future research will be conducted at a finer spatial scale, and will take into account characteristics of primary care practices and the patients being referred, amongst other variables.

The geography of genetics: an analysis of referral patterns to a cancer genetics service

This study uses a geographical information system (GIS) and statistical analysis to look for patterns in referrals to a British cancer genetics service. In this case, familial cancers are taken to be those that can develop when an individual inherits DNA mutations that cause an increased risk of cancer. Between 1998 and 2006 the Cancer Genetics Service for Wales received nearly 11,000 referrals for patients resident in Wales and it is the service database recording those referrals which is the subject of this secondary analysis. Using postcodes to match referred patients to areas, deprivation scores were assigned. Referral rates per 10,000 head of population across the 8-year study period by unitary authority are presented, as is information on referrals from primary and secondary care sources by year. Each patient referred has their family history of cancer recorded and is assigned to a risk category; high, medium or average. There are correlations between number of GPs (General Practitioners) in a practice, number of patients referred from a practice, and deprivation as measured by the overall Welsh Index of Multiple Deprivation 2005, such that the two former factors increase as deprivation decreases. Over time there were changes in referral sources, with referrals from primary care overtaking those from secondary care in percentage and absolute terms. There were also changes in the types of cancer referred, risk categories seen and to which centre referrals were made. Referral patterns reveal an inverse relationship between deprivation and health service availability and use.