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.

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