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 quite large now, and provides a reasonable test for Proband (and my drawing skills). The result is shown below- please scroll along to see all of it. 

The pedigree likely contains controversial entries and errors, and I'd be happy to have them pointed out to me at charles.shawsmith@gmail.com, with Archers in the subject line - please feel free.  

Irrespective of whether they are drawn by hand or by computer software, let us acknowledge that pedigrees provide a uniquely simple, clear and accessible way of appreciating family relationships.  I’m a bit surprised that the Archers official website doesn’t have one, and in fact having thoroughly scoured the internet for an Archers family tree, I could find only one, which was some years out of date, though still a good help to me in drawing mine.  It's available here. I did contact the author but no response.

A couple of points to make about the software, perhaps for the attention of CHOP/BHI if they are interested in feedback:

The really good part of it is the intuitive, simple to use way in which additional family members are created and linked in to the family tree, using the iPad touch screen.  

It is quite difficult to move people around the pedigree once it is in an advanced state.  It would be great to be able to 'group' individuals in a particular branch of the tree, as in Powerpoint, and move them.  This would enable the user to put siblings in the correct birth order, something I didn't do on this pedigree having overlooked the issue at the beginning. 

It would be useful if the 'align' button also had the effect of putting in even spacing of all the individuals on the pedigree- doing this manually is time-consuming.

There isn't an obvious way in the software to put in names and dates of birth, strangely, so these have gone in under 'diagnosis' - there must be a better way of doing that.  Ideally in my opinion, this software would enable the user to enter names by handwriting using a stylus on the touch-sensitive screen, which would then be converted to typeface once checked.

Overall, though, and with a few simple modifications, this software would be suitable for use in the genetics clinic for the purpose of updating pedigrees with new information.  It could mean an end to the hybrid system currently operating in our and I dare say other departments, where electronically drawn pedigrees are printed and manually annotated in the clinic, resulting in duplication of information and effort.

For the sake of balance I should point out that there are quite a few other pedigree-drawing software packages available. Progeny is one, a new pedigree-drawing software incorporated into Trakgene is another.  Here is another, doubtless there are more.  The point is that, in my view, we should be embracing these solutions which will help us to move towards an electronic patient record for Clinical Genetics.  

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 database held by GEL for patients and families enrolled in the 100,000 Genomes Project. 

The offending pile

Background on the 100,000 Genomes project is available here and here.  The project is, in my view, an entirely worthwhile attempt to improve the availability of state of the art genetic testing for patients and families affected by rare disorders.  The idea is to decrease the length of time it takes for these families to get a diagnosis, families such as that of the individual I met last month who has been trying to understand the reason for her three mentally handicapped sons since the first of them was born, in 1967.

The project has been funded by the UK government, but costs will be recouped, effectively by selling anonymized patient data, both clinical and genetic, to academic and industry partners.  The collection of good quality clinical data, which are stored centrally by Genomics England, is therefore an integral part of the project.

When the people at GEL came up with the idea for the project, they obviously thought that the data entry issue was going to be more straightforward than it has actually turned out to be.  From their draft protocol written last year:

A secure, web-based, information system will be provided for the collection of this data, removing the need for any additional, bespoke development within participating NHS organisations. An electronic facility will be provided for transmission of the same data from existing information systems. Where organisations have developed their own capacity for capturing and managing the same data, to the same standards, there will be no requirement for additional data entry 

[From: Genomic England Protocol for 100,000 Genomes Project, v2 date 16/01/2015,  p. 14]

To try to be fair to Genomics England, when they wrote '...transmission of the same data from existing information systems' in their protocol, I don't think that 'existing systems' referred to the stack of paper illustrated above, and that 'transmission' referred to manual transcription.  They thought that we were collecting data in electronic format and that this could be sucked into their system with minimal pain for all concerned. Speaking for my specialty, Clinical Genetics, I am not aware that any centre is collecting clinical data in a form which can be straightforwardly captured for the purposes of the 100,000 Genomes Project. All data is being re-entered into web forms such as OpenClinica, either from other electronic but so far not compatible IT systems, or from paper records. 

Clinicians are used to collecting data for NHS research projects. The problem in the 100,000 Genomes Project is that the data are being collected as if the project were research, whereas in fact the concept of the project as NHS transformation implies work which is carried out wholly within the arena of routine clinical practice.  The current data entry model is time-consuming and, in my view, a barrier to the success of the project, because clinicians are being asked to do data entry over and above the data collection which they routinely do as part of normal clinical care.

A couple of weeks ago I attended a meeting at Genomics England HQ at Queen Mary University of London. The meeting was attended by representatives from Genomics England, the UK Clinical Genetics community, and interested parties from industry.  The purpose of the meeting was, first, to draw the attention of Genomics England to the problem of duplicate data collection/entry, as outlined above; and, second, to try to identify a way forward.

The goal of drawing the attention of GEL was fairly straightforward to accomplish.  The second goal will be more challenging.  As I have previously discussed (here and here) it will involve a transformation of the way in which Clinical Geneticists work.   IT leads for (most of) the 23 UK Clinical Genetics centres have been meeting for the last few years, with myself as chair, to compare practice in this area and to try to help each other with progress towards an electronic patient record for Clinical Genetics. We have highlighted wide differences in IT systems in use and in the rate of progress in development towards that goal.  The 100,000 Genomes Project has brought these issues into sharp relief and this is one of several reasons why I think that it is a welcome initiative.

The potential value of having electronic rather than paper data collection for Clinical Genetics and the 100,000 Genomes Project cannot in my view be overstated.  The green files shown above are data 'silos'. They represent countless hours of careful collection of data which is then not available for potential other good uses: service development, clinical audit, research and, yes, the 100,000 Genomes Project.  And because the data is in these silos, it doesn't really matter if it is collected in a non-standardized way using non-standard descriptive and diagnostic terminology, because no-one else is looking at it. 

The best way of convincing sceptical colleagues, of which there are some, is to come up with a prototype electronic patient record that looks convincing, and works.  This is a major task, but in my view a worthwhile one.  It might even get me out of dealing with the pile.

Charles Shaw-Smith is a Consultant Clinical Geneticst based at the Peninsula Regional Genetics Service in Exeter, Devon UK, and Rare Disease Lead for the SouthWest Genomic Medicine Centre, 100,000 Genomes Project.

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, taken from a journal article: 

Reproduced from: Koolen D et al Journal of Medical Genetics (2008) 45:11 710-720.  Freely available here

The individuals shown have a condition called 17q21 microdeletion syndrome. Their resemblance to each other is (mostly) striking; indeed, they resemble each other far more than they resemble members of their own family, which is amazing when one considers how tiny is the genetic change resulting in the syndrome in question.

It is possible to study the pictures to gain an idea of which individual bears the closest resemblance to the 'most typical'.  I would go for numbers 7, 14 and 20, with numbers 1, 3 and 11 being perhaps the least typical.  This categorization is the kind of thing that Clinical Geneticists do and it has been immensely valuable in delineating new syndromes.  

Clinical Geneticists usually take photographs of undiagnosed patients attending their clinics, with consent, and these photographs are used as an aid to diagnosis in the way outlined above. Although Clinical Geneticists take and store photographs of these children, they do not ultimately have ownership of the clinical photographs of the patients in their collections- the parents do; and, if they have capacity, ultimately the affected individuals themselves do.

F2G have created an app for use by Clinical Geneticists, in which clinical photographs of patients with undiagnosed conditions are uploaded to their website and analyzed by computer to generate a list of possible 'syndrome matches'.  Their motivation in doing this is not purely an altruistic one of helping Clinical Geneticists diagnose their patients, but also one of making the data available to pharmaceutical companies who are developing therapies to treat children with rare disorders.

On first trying out the app, I experienced simultaneously feelings both of excitement and disappointment. Excitement because I think that this has the potential to be very useful for my specialty of Clinical Genetics; disappointment because I was immediately struck that something seemed to be missing, and that was immediate access to a well-catalogued library of clinical photographs.  

As  the Clinical Geneticists on the  advisory board of F2G will perhaps have advised, access to photos of patients with known, diagnosed and molecularly confirmed syndromes is a powerful training resource for members of our specialty. Given that Clinical Geneticists spend a lot of time looking at facial photographs, they need good resources for training in this difficult skill, a skill which will still be needed even when the patient's entire genome sequence is available (see last month's post).  I believe that F2G could -and should- help to provide such a resource. 

We are told that F2G has a database of over 150 000 photos, clearly a very extensive resource.  Why are these photos not made available to Clinical Geneticists through the F2G app as a training resource?  Presumably it is because they do not have consent to release these photographs in this way. A pity.

Of course, there are plenty of training resources available to Clinical Geneticists already, including many text books and electronic databases, such as the London Dysmorphology database.  The latter is comprehensive and useful, but does suffer from some disadvantages, which the authors themselves would I am sure concede: it cannot make any photo available without consent, either directly from the patient or from the journals who own the copyright and who are therefore authorized to make them available to LMD.   The number of photographs is therefore limited.  Second, they are not always of the best quality.  Third, they are often a mix of different types of photo- different parts of the body, radiographs, MRI images and so on.  

In order to increase their resource still further, F2G have embarked on a quest to ask Clinical Geneticists to make clinical photographs of patients with molecularly confirmed syndrome diagnoses available to them.  Again, as I understand it, this is on the basis that the photographs will not be made available to the Clinical Genetics community, but will simply be 'read' by the face recognition software and thus used only as an aid to machine learning.  

More photos are surely better.  It must be a basic principle of computer-aided recognition that a machine will learn more from 1000 photos than from 10 or 100. Increasing the amount of data should improve recognition accuracy and might even enable detection of different 'subtypes' of face within a given syndrome; or allow for discovery of which part of the face is most characteristic.  It should also in theory allow for better correlation between genotype and facial phenotype, if such correlations exist.

I don't think that F2G will get much engagement from Clinical Geneticists in terms of gaining access to clinical photographs unless there is some reciprocal benefit. It would make sense if photographs from archives of individual Geneticists could be made available as a public resource for training purposes as outlined above. Each Geneticist must have dozens if not hundreds of such photographs, which, if pooled on a national or international basis, would constitute an amazing resource for practising clinicians.

Sadly, making such a resource available is not in prospect because Clinical Geneticists are not authorized to release their photographs in this way- they don't have consent from the individuals and families concerned.  They might possibly be able to allow their archived photographs to be read by computer to promote machine learning, but it's not clear what the trade off for them in doing this would be.

To increase access to photos by Clinical Geneticists, here is an idea.  We have all been noting the growth of the involvement of patients and families in social networking sites, especially Facebook.  I have been a member of a couple of sites dedicated to specific syndromes for a while, and I have noted that they attract decent numbers of followers, worldwide.  The love for and dedication to their children that the parents have is plain for all to see.  They are a self-selected group of course but their willingness to share information to help each other is clear.  Research projects into the conditions from which their children suffer are highlighted in detail.  Photographs are shared: I was struck by one post in which a parent put up a photo of her affected child and asked other group members to add photos because she wasn't sure what individuals with that syndrome were supposed to look like.  About 50 photos were added.

Why not cut out the middlemen (Clinical Geneticists) and go straight to the people who can decide about these photographs- the families themselves? Would they be willing to share photographs of their children with Face2Gene?  If evidence of potential benefit to them could be provided, then I think that the answer would be ‘yes’.  It would be incumbent on Face2Gene to explain what this benefit would be, but if what they are saying about their business plan is accurate, they should be able to do that.

These families are used to uploading photographs of their children to websites.  They have done it enough times on Facebook, and, if they thought that it would help their child or other children with the same disorder in the future, then they could easily do it on Face2Gene as well. The Facebook group as a whole could be offered a financial inducement (why not?).  In this way, a larger number of consented photos than Clinical Geneticists could ever provide would be made available, and direct engagement of patients and families would have happened- always a good thing.

If it became known that the support groups on Facebook were becoming actively engaged with clinical, research and commercial partners, then this would improve their standing and significance and lead to better engagement of affected families- the support groups would grow.  There would presumably be a clear win for Face2Gene as they would get the photos they wanted, meaning that their computers would have improved opportunities for learning.  For clinicians, there would be a gain in terms of improvement in educational/training resources, as the photographs would now have the level of consent required to make them publicly available.  

With all this training and learning happening, I'd be interested to see whether computers could 'beat' Clinical Geneticists at syndrome recognition.  I wouldn't bet against them.

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.  One of the participating Genomic Medicine Centres (SouthWest Peninsula) is our very own Royal Devon and Exeter NHS Foundation Trust.   

The goal of the project is to transform the NHS, bringing genetics to mainstream medicine, allowing for the development of new therapies for cancer and rare disorders. The term for this is "precision medicine". Genetic information has the capability to predict which individuals will respond best to which cancer therapeutic agent, which drug side effects they may be at risk of developing, and the sub-type of rare genetic disorder which they have. 

Patients who are eligible to participate in this project are either those with a recent diagnosis of one of a defined set of cancers (for example, breast cancer, lung cancer; there are several others); or, secondly, a rare disorder (examples: a congenital malformation, a rare syndrome with learning disability, or a rare neurological disorder).  There are literally thousands of rare disorders, individually very rare, but collectively common - Rare Disease UK found that 1 in 17 individuals in the UK is affected by a rare disorder.  Participating GMCs are able to 'nominate' specific rare disorders which Genomics England will then consider and, if appropriate, approve.

There are valid reasons for scepticism about the project.  Here are a few:

1. The issue of consent is a complex one, made more so by the fact that patients will be asked whether or not they wish to receive 'secondary' (also called 'unlooked for' findings).  These findings relate to their future health but are unrelated to the medical reason for which they were enrolled in the project, for example, a fault in a gene conferring susceptibility to breast and ovarian cancer identified in a child with a rare neurological disorder.
2. The IT infrastructure requirement for the project is significant and will need considerable investment of time, energy and money- previous efforts to reform NHS IT do not necessarily give grounds for optimism
3. There are issues regarding data security.  Patients who enrol in the project will be asked to consent to release of clinical information and genomic data to third parties, which will include commercial as well as academic groups, for the purposes of research and development.  This idea also has some tricky past history, still far from resolved.

Despite the problems and challenges, which are real, I have detected a keen sense of anticipation, even excitement at the meetings which I have attended.  For example, SouthWest Peninsula GMC leads met recently in Exeter with a group of paediatricians from our hospital, in order to inform them about the project and invite them to collaborate.  They were enthusiastic!  Why?  Maybe because, despite the challenges, they can see the benefits.  This recent article in a Clinical Genetics journal explains some of them.

At yet another recent meeting, this time of clinicians and laboratory scientists, we had a talk from a bioinformatician.  These people have the job of converting the raw genome sequence into something that is accessible to and usable by the clinician.  I asked him, I thought playfully, whether or not there was in his view a prospect that people could in the future download their genome sequence onto their mobile phones and analyse them on an 'app' ("MyGenome"?).   He couldn't see an issue with the genome download, and no doubt the clever people at Google, Apple and elsewhere are in the process of developing the app right now.  As technical challenges go, I wouldn't have thought it would be harder than some of the other stuff they do- driverless cars, for example.  

In the 100 000 Genomes Project, participants can request to receive their own raw genome data in addition to any results.  As at 2015, the process for this has not yet been defined by Genomics England, but there is no reason to think that it shouldn't be possible, even though there will probably have to be a payment.

Outside the 100 000  Genomes Project, the more interesting question is to ask at which point people from the population at large will start to want to have access to their own genome data.  As always, a key element of this question (not the only one, of course) is cost.  Here is a graph of the cost of sequencing a genome over time, to the present, taken from this source:



Once the cost of a whole genome sequence falls to a value which is accessible to the private citizen, and the technology to look at it is developed into a user-friendly interface, then the private citizen is likely to look carefully at the value of knowing this information.  Yes, of course there are millions of variants of uncertain or low significance.  But it is the handful of variants of very well known, and extremely adverse, clinical significance, that people could possibly want to know about.  

If people could find out very easily, and for an essentially trivial cost, that they were at, say, 80% risk of developing breast or bowel cancer in their lifetime; or that, as a couple, they were at high risk of having a child with a pre- or post-natally lethal disorder, would they ignore this opportunity?  I wonder.

Views expressed in this article are my own and not those of Peninsula Regional Genetics Service, Royal Devon and Exeter Hospital, SouthWest Peninsula Genomic Medicine Centre, Genomics England or any other public body.

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 on how this specialty differs from the more well-known, mainstream ones.  These notes are mainly for the lovely people at Epic, who have kindly agreed to talk to me by teleconference next month.  The subject of our discussion will of course be IT systems for Clinical Genetics and my hope is that Epic will be able to devote a small fraction of their resources to helping me realize my vision.

In one respect, of course, we are just the same as all other medical and surgical specialists, in that we try to find a solution to the problems of the patients who are referred to us- and there is no shortage of either of those commodities.  This article is about the differences, however.  I am going to try to explain what these are in the hope that giving people an understanding of how we work will enable them to help us more effectively.

Significant difference #1

Clinical Geneticists do not, as a rule, operate on patients, give them drugs or manage their illnesses.

Our role is in the realm of diagnosis, genetic testing and giving out information based on genetic test results.  We are often particularly concerned with making an accurate diagnosis  of an illness or condition so that we can advise other family members of their risk of having the same condition. For an example, please refer to my previous post which describes referral of a patient at risk of Huntington's disease.

Significant difference #2

We have case files for families, not individual patients

This is a really odd one at first sight.  It is very hard for HAs/MDs/ITSPs to deal with because we are absolutely the only specialists who do this.  It makes sense to us, though, because the “unit” of a genetic disorder is not the individual with the disorder (the “index case”), but his or her entire family, comprising all of those individuals who are related to the index case and who are at risk of the disorder in question because of this relationship.  This can be and sometimes is a very large number of people indeed.

The structure of the family file is pretty simple- it is made up of a number of individual patient files which are not that different from a standard patient hospital file.  (See here).  This is not the same, though, as a number of patient hospital files being “linked together”.  (See here).  

Of course, family members will insist on complicating the system by moving around between different geographical areas.  In general, therefore, a family file will contain individual entries of two types: first, individuals who are at risk of a genetic disorder and who reside in the geographical area covered by that particular genetics service; second, family members who have the condition in question, making them important for the purposes of confirmation (see here), but who reside outside the geographical area covered by the service.

Significant difference #3

We cover geographical areas which are much greater than those served by the majority of specialists from the hospital in which we are based

Take our service as an example.  It covers the counties of Devon and Cornwall in the Southwest of England:

This corresponds roughly to the area within the rectangle.  Each red blob represents a city or town with its own hospital.  The Regional Genetics Service is based in Exeter; Consultants and Counsellors travel to the other hospitals within the region in order to see patients.  We would prefer to get them all to come and see us in Exeter but this would not be considered acceptable in terms of providing an equitable service over a geographical region.  Of course, we are not the only specialists to use this hub and spoke pattern, but perhaps we are unusual in that our service was set up in this way from the outset.

That's enough significant differences.  Put them together, though, and you have something which, in terms of administration, IT solutions and so on, is a headache.   It's bad enough for ITSPs who are trying to provide eNotes/ePRs for the mainstream services.  Huge efforts are going on to try to realise that and it is not easy.   We Clinical Geneticists would like to be part of that but we would like to have our differences recognized and built in to any hospital-wide system.  For that to happen, the architecture of our service (and of our case files) has to be appreciated.  So, if you are an ITSP and have got to the end of this article, then I'd like to offer my sincere gratitude- and the hope that some of your mystification and/or annoyance has in the process been dispelled.

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 I would very much like to liaise with someone in your organization at as early a stage as possible, to see how this would work.”

The reply drew attention to an issue which deserves some closer analysis: 

“Epic takes more of a patient-centered charting approach with the ability to document Family History, and many organizations are beginning to request the ability to display pedigrees and link family member records together.

While there is a definite clinical advantage to linking the charts, we are still hearing a lot of concerns about confidentiality and sharing of patient information across records.”

I would like to try to unpick this a bit. 

Clinical Geneticists often need to access the medical records of a relative of a patient who has been referred to them.   The reason is usually to confirm the diagnosis in question.  For example, a referral letter may state something like:

“The father of my patient is in the early stages of Huntington’s disease.  Please test her to determine whether or not she is at risk”. 

For the purposes of giving genetic advice to a relative, the diagnosis of Huntington’s disease is not something that can be taken at face value but must instead be confirmed by access to the medical records of the individual concerned.

The reason is simple.   If we test the daughter for Huntington’s disease and the father has not Huntington’s disease, but rather Dentato-Rubral-Pallido-Luysian Atrophy (this is a real disease), then we will be providing her with false reassurance when the test result is negative, as it surely will be.  Hence the necessity to check the father’s medical records to confirm that the information provided about him is as stated.

The main point as far as confidentiality of medical records is concerned is that no Clinical Geneticist or Genetic Counsellor will ever seek to obtain access to a relative’s medical file without first seeking the consent of the relative in question.  This is a nuisance but it has to be done.  Failure to do so would put us in the same broad category as the journalists from the News of the World who used to ring round GP surgeries to find out if Gordon Brown’s son had cystic fibrosis.

The suggestion from the email response from Epic is that people are requesting “the ability…to link family records together”.  Linking family records together is not the same as getting consent for access to the file of a relative, getting information from that file, and then putting this information in the file of the patient who has been referred to you.  In the latter scenario, there is no linking of files.

Consent to access medical records is given by relatives for a specific reason and usually to a specific health practitioner.  The wording of the consent form currently in use in our department is as follows:

“I…give permission for information from my medical records to be released to…”

There is nothing in this wording which suggests that information from the relative’s file will be made available to any clinician looking in the referred patient’s file for the remainder of the lifetimes of all relevant parties. If the wording were intended to mean that, then it would have to say it, and I doubt if many individuals would then consent to it.

It is a moot point whether or not the consent provided by the relative is time-limited.  There is nothing in the consent form to provide for the length of time for which consent to access is given. It is fair to say, though, that if further access were required some 10 or 20 years later on, further consent should be sought.

  

One additional point about electronic versus paper access is worth making:  in the Information Governance Review which I discussed in last month’s post, I referred to this recommendation:

Recommendation 1 
People must have the fullest possible access to all the electronic care records about them, across the whole health and social care system, without charge.  An audit trail that details anyone and everyone who has accessed a patient’s record should be made available in a suitable form to patients via their personal health and social care records. The Department of Health and NHS Commissioning Board should drive a clear plan for implementation to ensure this happens as soon as possible (p32).

In the world of electronic patient records, every access to the record of every patient is documented in an audit trail.  Audit trails can be looked at and checked, yes, even audited.  Any access to records has to be justified by the individual who makes it. 

So, lovely people at Epic and elsewhere, please be advised that we do not wish to link patient charts together on a permanent or even a temporary basis. We wish to be able to have access to the stand-alone, unlinked files of individuals who have not been referred to us, having obtained their consent to do this. We then wish to obtain information from these files which we will copy and store in the file of the referred patient.

We would like to have special Clinical Genetics ePRs, though, which are separate from the patient's regular hospital file.  I don't believe that trying to make the regular hospital file double up as a Clinical Genetics file will work.  Maybe you can convince me otherwise, though?   

One thing that this little debate highlights is that ePRs have the potential to allow different ways of doing things.  No-one in his or her right mind would ever advocate the permanent linking of paper files, given the fact that it wouldn't take too much linking before a fork-lift truck were required for transportation.  But electronic files do allow for this possibility, even if it is not something that is necessarily desirable.  Interesting times ahead.

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 existed before I could speak to him.  But he was helpful, and one of the things he told me is that emailing letters to patients is perfectly ok. This surprised me, but it is true: in some circumstances it is even actively encouraged.  He sent me a copy of the Information Governance review, chaired by Dame Fiona Caldicott and published in March, 2013.  It’s available here.

On page 28 of the report, in chapter 2, which is entitled ‘People’s right to access information about themselves’, there is a case study which I have reproduced below.

This may be an unusual example, but that’s not really the point.  The point (for me) is that people who have been tasked with advising about Information Governance are ok with people being emailed.

The Review Panel concludes that "personal confidential data can be shared with individuals via email when the individual has explicitly consented and they have been informed of any potential risk." (p.28).

Well, that was news to me.  But as it turns out, our NHS Trust is in the process of developing a consent form, in which the conditions for use of email for communication between doctors and patients are laid out.  The agreement to use email is entered into at the request of the patient; possible security risks are understood; and the patient must email the Trust first to ensure that the correct email address is used.  It seems reasonable to me.

This is great.  I can email letters to my patients- if they want me to.  I would certainly prefer to, but I’m not sure how many patients would want that.  Some would, I’m sure, but we are a long way from having systems in place that could make this routine practice, in our department, anyway.  There is not (yet) enough digital healthcare in the NHS to create an expectation amongst patients that we would email rather than use paper mail.  Patients ask me to email them only very occasionally.  The ones who are noticeably well-organized about their healthcare (often because they have a very complex condition) often arrive in clinic with A4 ring binders containing large chunks of their medical records.  They still want paper to add to their files and email isn't for them, at the moment (but see below). 

There are security concerns about email but it’s worth noting that the Information Governance review did not find much evidence that this was a problem in practice.  There’s no shortage of serious data losses, it is true, but these do not occur in the context of a data sharing agreement between patient and hospital .  They are more of the ‘laptop left on train’ type.  Chapter four of the report contains further details.

Widespread non-use of email is frustrating, though.  I dictate the majority of my letters within 24 hours of seeing the patient.  The text and layout of the letter are complete, but often the letter doesn’t go out for a couple of weeks or so after that, sometimes longer, because the members of our long-suffering secretarial team are over-stretched and have a constant back-log of work to deal with.

Paper mail is just so clunky and cumbersome.  How much money is spent in the NHS on paper, printers, printer ink (one of the most expensive commodities in the world?), envelopes, and franking machines every year, I wonder?  How much time is spent by secretaries, printing these bits of paper out, folding them, putting them into envelopes and standing at photocopiers making copies for the patient’s file?  How many people does the NHS employ to lug all these sackfuls of paper around?

There’s another bit in the Information Governance report which I found interesting: 

“Recommendation 1
People must have the fullest possible access to all the electronic care records about them, across the whole health and social care system, without charge.  An audit trail that details anyone and everyone who has accessed a patient’s record should be made available in a suitable form to patients via their personal health and social care records. The Department of Health and NHS Commissioning Board should drive a clear plan for implementation to ensure this happens as soon as possible.” (p.32).

We won’t even need to email patients if that vision is realised- they’ll be able just to log on and look the letter up.  Now that would be progress.