To have genetic tests for all aHUS patients and families featured in the Rare Disease Day video ( see here).
A recent announcement by the NHS in the UK takes the debate further by suggesting that the personalised treatments needed by cancer and rare disease patients needs a revolution in genetic screening provision. To make it available to all with an “industrial” approach that could reduce the costs of genetic tests , currently a whole genome sequencing costs about £700 (about $850) .
A copy of an article about the announcement featured in the London Financial Times and can be read here.
The alliance supports genetic testing for all aHUS patients, because it is already showing it can influence aHUS TMA diagnosis prognosis and treatment management. Some countries are doing more testing than others;but there is a limit to what testing labs can manage. There is also a need to standardise the panel of tests to be done, as well as the reports required from those tests so that a full and complete picture is available and used to counsel patients. The KDIGO Conference on aHUS listed that as an aspiration.
Apart from the mechanics of undertaking the tests, there are also clinical and ethical issues that also need to be considered.
There is some uncertainty about how the HUS patient /family community, as a whole , view, these developments, and the research topic featured in the Orphanet article about aHUS patient research priorities ( see here) so the alliance is planning to undertake a survey of patients/families views on genetic testing later this year, and, provide informed opinion to the debate.
*The featured image is entitled ” Life and Legacy” and represents the bonds of humanity between our patients , their families and our employees ( Alexion) .Before you are many lights of life with the longer strand representing DNA and symbolising the foundation of life.