25 January 2012

Human Genomics Strategy Group releases report

Here's the skinny:
This is a topic dear to my heart, so expect more blogging about it
soon. I've had a quick look at the document, but this sort of thing
requires Deep and Ponderous Consideration. From the press release (25
Jan 2012), the main recommendations are:

• [Government] to develop a cross-cutting strategic document, to set
out the direction on genomic technology adoption in the NHS;
• [Government] to develop a national central genomic data storage facility;
• NHS Commissioning Board should lead on developing genomic technology adoption;
• to work to develop a service delivery model for genomic technologies;
• NHS should continue to develop genomics education and training;
• to raise public awareness of genomic technology and its benefits.

These are OK as far as they go, and I think the UK is already in a
great position to bring these objectives and their attendant benefits
to realisation. Whether we would be able to do that with Mr Lansley's
proposals to "reform" the NHS in England is another question (I
respectfully differ with the government on this issue - I think the
proposals in the forthcoming NHS Bill are utterly wrongheaded, and
will actually harm the harnessing of genomic advances, but that's
another story).

The first point is important; the second is a very welcome proposal -
we need to set up such a unit as a "Trusted Third Party" repository of
genetic and genomic information. Third point - yes; fourth - yes -
Clinical Genetics Units can form the nucleus of this model. Points 5 &
6: of course - these are no-brainers. Perhaps the most important thing
we need to add to these is a strategy for rigorously gathering
evidence to see how much our greater genomic capabilities actually
influence the health of real patients. Everything about Medicine must
keep an eye to the evidence.

We have 23 established centres of genetic (and increasingly genomic)
excellence in the UK, namely the Regional Clinical Genetics Units.
These units already work closely with other medical and surgical
specialties to bring the fruits of the genetic/genomic revolution to
patients and families with both rare diseases and common diseases, so
a fantastic infrastructure already exists. We are already
"Mainstreaming". If we develop and resource that infrastructure
appropriately, great things are possible, and the UK can continue to
lead the world in both the research and translational aspects of

[The link to the full report on the DH website doesn't appear to be
working yet, but I'm sure that'll be fixed soon].

I would love to hear folks' thoughts on this - this is a major plank
in the future of Medicine.

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