No abstract

Mutation databases of human genes are assuming an increasing importance in all areas of health care. In addition, more and more experts in the mutations and diseases of particular genes are curating published and unpublished mutations in locus-specific databases (LSDB). These databases contain such extensive information that they have become known as knowledge bases. We analyzed these databases and their content between June 21, 2001, and July 18, 2001. We were able to access 94 independent websites devoted to the documentation of mutation containing 262 LSDBs for study. We analyzed one LSDB from each of these websites (i.e., 94 LSDBs) for the presence or absence of 80 content criteria, as generally each gene in a multigene website documented the same criteria. No criterion studied gave unanimous agreement in every database. Twenty-two genes were represented by more than one LSDB. The number of mutations recorded, excluding p53, was 23,822 with 1518 polymorphisms. Fifty-four percent of the LSDBs studied were easy to use and 11% hard to follow; 73% of the databases were displayed through HTML. Three databases were found that were given a high score for ease of use and wealth of content. Thus, the study provided a strong case for uniformity of data to make the content maximally useful. In this direction, a hypothetical content for an ideal LSDB was derived. We also derived a community structure that would enhance the chances of mutation capture rather than being left unpublished in a patient's report. We hope the interested community and granting bodies will assist in achieving the vision of a public system that collects and displays all variants discovered.

Aim The Australian ‘There is no place like home’ project is implementing a paediatric low‐risk febrile neutropenia (FN) programme across eight paediatric hospitals. We sought to identify the impact of the coronavirus disease 2019 (COVID‐19) pandemic on programme implementation. Methods Paediatric oncology, infectious diseases and emergency medicine health‐care workers and parent/carers were surveyed to explore the impact of the COVID‐19 pandemic on home‐based FN care. Online surveys were distributed nationally to health‐care workers involved in care of children with FN and to parents or carers of children with cancer. Results Surveys were completed by 78 health‐care workers and 32 parents/carers. Overall, 95% of health‐care workers had confidence in the safety of home‐based FN care, with 35% reporting changes at their own hospitals in response to the pandemic that made them more comfortable with this model. Compared to pre‐pandemic, >50% of parent/carers were now more worried about attending the hospital with their child and >80% were interested in receiving home‐based FN care. Among both groups, increased telehealth access and acceptance of home‐based care, improved patient quality of life and reduced risk of nosocomial infection were identified as programme enablers, while re‐direction of resources due to COVID‐19 and challenges in implementing change during a crisis were potential barriers. Conclusion There is strong clinician and parent/carer support for home‐based management of low‐risk FN across Australia. Changes made to the delivery of cancer care in response to the pandemic have generally increased acceptance for home‐based treatments and opportunities exist to leverage these to refine the low‐risk FN programme.