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Genetics/Perkin Elmer
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Many countries now screen for a number of rare and not so rare conditions at birth as part of their routine public health provision. Sheffield has recently led the way, as part of the Genetics theme within CLAHRC SY, in adding a further five conditions for evaluation in a multi-centre study lasting one year. It is hoped that this will modify national screening policy in the months and years ahead.

The technical aspect of making these measurements on the tiny blood spot samples received by the laboratory is demanding but is probably the easiest aspect to control in any effective screening programme. In practice, it is the other aspects, collecting the sample and transporting it to the laboratory and ensuring that parents are notified promptly of the results together with ensuring the effective treatment of any 'screen positive cases' identified, that poses the greatest organisational challenge. The effective management and monitoring of all aspects of 'screening programmes' is a strength in the UK, largely as a result of the infrastructure within the NHS and the careful scrutiny offered by our National Screening Committee. Indeed, it is the proper planning of these aspects in which emerging markets such as India and other countries need our greatest advice and support.

A joint venture between the screening services at Sheffield Children's NHS FT and a leading equipment and reagent manufacturer, Perkin Elmer, is exploring ways of offering these services within the Indian subcontinent and further afield. The UK India Business Council and NHS Global are helping to frame agreements, that it is hoped, will lead to the delivery of a well structured service for users in India. Perkin Elmer will be able to provide and install the instrumentation and the hospital in Sheffield will be able to support specialised remote testing, training and education and on-going clinical support delivered by a telemedicine route. This is an exciting and generalisable means of employing specialist expertise available in the UK to partner health services in emerging markets, made possible by the collaboration of industry and the NHS and linked by leading edge IT developments.

The benefits for the UK and overseas healthcare providers are clear but perhaps the chief beneficiary will
be the patients and families who are offered safe and effective programmes delivered to the same high ethical standards that we have become used to in the NHS. In doing so, we can add to the resources available within the UK to benefit patients and families in South Yorkshire and further afield.

For more information please contact:
Jason Sowter
Genetics Theme Co-ordinator

For more information about Perkin Elmer please see their website:


National Institute for Health Research Collaboration for Leadership in Applied Health Research and Care for South Yorkshire (CLAHRC SY) acknowledges funding from the National Institute for Health Research (NIHR). The views and opinions expressed are those of the authors, and not necessarily those of the NHS, the NIHR or the Department of Health.

CLAHRC SY would also like to acknowledge the participation and resources of our partner organisations. Further details can be found here

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