Quality of life utility values for hereditary haemochromatosis in Australia

Background: Hereditary hemochromatosis (HH) is a common autosomal recessive disorder amongst persons of northern European heritage. If untreated, iron accumulates in parenchymal tissues causing morbidity and mortality. As diagnosis often follows irreversible organ damage, screening programs have been suggested to increase early diagnosis. A lack of economic evidence has been cited as a barrier to establishing such a program. Previous analyses used poorly estimated utility values. This study sought to measure utilities directly from people with HH in Australia. Methods: Volunteers with HH were recruited to complete a web-based survey. Utility was assessed using the Assessment of Quality of Life 4D (AQOL-4D) instrument. Severity of HH was graded into four categories. Multivariable regression analysis was performed to identify parameters associated with HSUV. Results: Between November 2013 and November 2014, 221 people completed the survey. Increasing severity of HH was negatively associated with utility. Mean (standard deviation) utilities were 0.76 (0.21), 0.81 (0.18), 0.60 (0.27), and 0.50 (0.27) for categories 1-4 HH respectively. Lower mean utility was found for symptomatic participants (categories 3 and 4) compared with asymptomatic participants (0.583 v. 0.796). Self-reported HH-related symptoms were negatively associated with HSUV (r = -0.685). Conclusions: Symptomatic stages of HH and presence of multiple self-reported symptoms were associated with decreasing utility. Previous economic analyses have used higher utilities which likely resulted in underestimates of the cost effectiveness of HH interventions. The utilities reported in this paper are the most robust available, and will contribute to improving the validity of future economic models for HH

Preparing Medical Specialists for Genomic Medicine: Continuing Education Should Include Opportunities for Experiential Learning

With the demand for genomic investigations increasing, medical specialists will need to, and are beginning to, practice genomic medicine. The need for medical specialists from diverse specialties to be ready to appropriately practice genomic medicine is widely recognised, but existing studies focus on single specialties or clinical settings. We explored continuing education needs in genomic medicine of a wide range of medical specialists (excluding genetic specialists) from across Australia. Interviews were conducted with 86 medical specialists in Australia from diverse medical specialties. Inductive content analysis categorized participants by career stage and genomics experience. Themes related to education needs were identified through constant comparison and discussion between authors of emerging concepts. Our findings show that participants believe that experiential learning in genomic medicine is necessary to develop the confidence and skills needed for clinical care. The main themes reported are: tailoring of education to the specialty and the individual; peer interactions contextualizes knowledge; experience will aid in developing confidence and skills. In fact, avenues of gaining experience may result in increased engagement with continuing education in genomic medicine as specialists are exposed to relevant applications in their clinical practice. Participants affirmed the need for continuing education in genomic medicine but identified that it would need to be tailored to the specialty and the individual: one size does not fit all, so a multifaceted approached is needed. Participants infrequently attended formal continuing education in genomic medicine. More commonly, they reported experiential learning by observation, case-review or interacting with a "genomics champion" in their specialty, which contextualized their knowledge. Medical specialists anticipate that genomic medicine will become part of their practice which could lessen demand on the specialist genetic workforce. They expect to look to experts within their own medical specialty who have gained genomics expertise for specific and contextualized support as they develop the skills and confidence to practice genomic medicine. These findings highlight the need to include opportunities for experiential learning in continuing education. Concepts identified in these interviews can be tested with a larger sample of medical specialists to ascertain representativeness

ironXS: High-school screening for hereditary haemochromatosis is acceptable and feasible

As the results of the Human Genome Project are realised, screening for genetic mutations that predispose to preventable disease is becoming increasingly possible. How and where such screening should best be offered are critical, unanswered questions. This study aimed to assess the acceptability and feasibility of genetic screening for preventable disease, using the model of hereditary haemochromatosis, in high-school students. Screening was offered for the HFE C282Y substitution to 17 638 students. Questionnaires were administered at the time of screening (Q1) and approximately 1 month after results were communicated (Q2). Outcomes assessed were uptake of screening, change in scores of validated anxiety, affect and health perception scales from Q1 to Q2, knowledge and iron indices in C282Y homozygous individuals. A total of 5757 (32.6%) students had screening and 28 C282Y-homozygous individuals (1 in 206) were identified, and none of the 27 individuals who had iron indices measures had significant iron overload. There was no significant change in measures of anxiety, affect or health perception in C282Y homozygous or non-homozygous individuals. Over 86% of students answered each of five knowledge questions correctly at Q1. Genetic population-based screening for a preventable disease can be offered in schools in a way that results in minimal morbidity for those identified at high risk of disease. The results of this study are not only relevant for haemochromatosis, but for other genetic markers of preventable disease such as those for cardiovascular disease and cancer