Posts by Charles Shaw-Smith

Phenotips pedigree-drawing software and The Archers family tree updated

I previously posted about a pedigree-drawing software called Proband from Children’s Hospital of Pennsylvania.  It is nice to use, incorporating quite a few of the features that I wrote about in 2014. Here is another pedigree-drawing software, called Phenotips.  It is commercially supported through a company called Gene42.  Although it does require use of a mouse and keyboard, it is easy to use and has some nice features, especially the ease with which it is possible to add people, and the relative ease of adding phenotype information. I have redrawn and considerably expanded The Archers family tree using it.  Quite
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Pedigree-drawing software and “The Archers” Family Tree

Children’s Hospital of Pennsylvania Department of Biomedical and Health Informatics (CHOP/BHI) has done a great job of trying to design a simple-to-use pedigree drawing software.  Their app, called Proband (available at http://probandapp.com/) is available to use on an iPad but not other platforms as far as I’m aware.  It seems to incorporate quite a few of the features on the wishlist in my previous post of February 2014.   To illustrate the end product, I wanted to find a family tree that was already in the public domain and BBC Radio 4’s The Archers fitted that category. The family is getting
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Clinical data entry for the 100,000 Genomes Project

Next Wednesday I will sit down with a colleague from Genomics England (GEL) and undertake a data entry blitz on upwards of 50 families recruited to the 100,000 Genomes Project.  The data will be transcribed from the patients’ paper records into an electronic database administered by GEL.  The pile of paper records is quite substantial (see illustration below).  The size of the pile has focussed the mind somewhat, and I would like to argue in this article that data should be collected from patients in the clinic electronically and in a way which is compatible with other formats, including the
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Face2Gene and syndrome recognition by computers- photographs needed, try Facebook?

Face2Gene (F2G) is a new company which aims to use computer-based facial recognition rapidly to analzye large numbers of clinical photographs of children and adults with syndromes of genetic aetiology.  The faces of individuals with such syndromes can be highly recognizable, and the ability to recognize them is a skill which can be learnt. The ability to do this is not restricted to members of the medical profession, still less Clinical Geneticists, and it appears that computers are good at it too. The face of a child with Down syndrome is probably the most recognizable ‘syndrome face’.  Here is another example,
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100 000 Genomes Project: much transformation is in prospect, and not just of the NHS

The 100 000 Genomes Project is a ground-breaking study which will bring the power of new genetic technologies to NHS patients.  Eleven Genomic Medicine Centres (GMCs) from around England will be (or are already) recruiting patients with either a cancer or a rare genetic disorder.  These patients will go on to have their entire genomes sequenced.  The first patient was recruited to the study earlier this month.A company called Genomics England, owned by the Department of Health, has been set up to run the project.  To run alongside it, a Masters programme in Genomic Medicine is being set up  in 6-8 sites in England.
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Clinical Genetics for hospital administrators, medical directors and IT solution providers

Occasionally in my darker moments I have the feeling that, in certain sectors of hospital practice (HAs/MDs/ITSPs to give them an abbreviation), Clinical Genetics will never be understood. It is paradoxical because on the one hand, genetics appears to be climbing ever higher on the political agenda (see eg this article); but on the other, Clinical Geneticists often feel that their existence is, if not mystifiying, then downright annoying to HAs/MDs/ITSPs . With this in mind, and wishing to dispel mystification and annoyance wherever I find it in hospital corridors, I have written these briefing notes about Clinical Genetics, focussing in particular
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Access to medical records and patient confidentiality

I have been in contact with a company called Epic about the possibility of an electronic patient record (ePR) for Clinical Genetics.  Regular readers of my blog will be aware that this is a subject which is dear to my heart. Epic have many customers in the US but so far relatively few in the UK.  I wanted to know how they might be able to help with a Clinical Genetics ePR and wrote: “We are a small specialty with some unique features (most obviously, that each file is in fact a family and not an individual patient file) and therefore
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Wouldn’t emailing letters to patients be better than posting them?

I have pretty much the same thought every week, just at the point when I have dictated another patient letter (using, needless to say, voice recognition software), and saved it to the file from which my lovely secretary will open it, add addressees and demographic data, print it, put it in an envelope and post it.  And the recurring thought is:  wouldn’t it be a lot quicker, easier, cheaper and better if we just emailed it instead? I spoke to the Information Governance Manager at our Hospital Trust about this.  Don’t worry, first I had to find out that he
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Paper or electronic journals?

Hospitals are not alone in having to come to terms with the volume of space occupied by paper records.  Shops, banks, armed services, schools, and libraries are all facing the same issues.  The Bodleian library in Oxford, simultaneously blessed and cursed by being a copyright library and therefore entitled to receive a copy of every book published in England, exploded, almost literally, in 2010 when it moved a huge store of books to an industrial estate in Swindon, as described here.  The number of pieces of paper in the form of books, journals and files of various kinds is growing
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In praise of Voice Recognition Software

The first time I watched the words appear on the screen as I spoke, I was reminded of Arthur C Clarke’s dictum: “any sufficiently advanced technology is indistinguishable from magic”.  It is 18 months since I put my dictaphone in my desk drawer, never to be taken out again, and if it is possible to have a love affair with a piece of technology, then I believe that this would apply to me and my voice recognition software.Here are the people who toiled for decades to make it happen, James and Janet Baker.  You wouldn’t necessarily have thought it, but
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