This blog post is aimed at the lovely people who make software and databases for use by Clinical Geneticists, though of course all interested parties are welcome to read and comment.
A current vision for processes in Clinical Genetics, not yet fully realised, is the replacement of the patient’s paper file with a digital substitute. Arguably the biggest barrier to the full implementation of this vision is the pedigree. All Clinical Genetics files have a pedigree, this being the thing around which our specialty revolves. Just to break up the text and for the uninitiated, here is one:
The circles are females, the squares are males. A filled in symbol denotes an individual with the genetic disorder in question. An oblique line through an individual signifies that he or she is deceased. In the clinic, names and dates of births of patients are written next to the symbol, usually underneath. It’s pretty simple. The pedigree shown is consistent with a sex-linked disorder such as Duchenne muscular dystrophy or haemophilia.
I believe that we should be moving towards use of pedigree drawing software in the clinic, and we should use a tablet and a stylus in the same way as we use paper and pen. We should not be using pen and paper versions only, and we definitely should not be using a hybrid system where pedigrees are drawn using software, then printed and annotated further in the clinic, by pen. Finally, we should not be using software that requires a mouse and entry of text on a keyboard to make it function.
Can a pedigree be replaced with a digital substitute? Well, of course it can. There are plenty of commercially available pedigree-drawing softwares: Cyrillic, Progeny, and others. And have these digital pedigrees replaced hand-drawn pedigrees in the clinic? No. We clinical geneticists (and probably genetic counsellors too) are not going to relinquish pens and pieces of paper that easily.
So, why are we not using these pedigree drawing softwares in the clinic? In theory, it would be great to do so because we would have an electronic version of the pedigree which could be drawn or edited real-time in the clinic and stored, paperlessly. The most obvious reason why we don’t use them is that mostly we have paper rather than digital files, and so why would we have digital pedigrees? But what if we had entirely digital files? There would be no case for having paper pedigrees then. Would we use any of the currently available pedigree-drawing software in the clinic then? Probably not: anything that involves mouse navigation on a screen and typing in text boxes using a keyboard is a poor substitute for a pen and a piece of paper, and is likely to be resisted by anyone who considers body language, eye contact and other nuances of communication to be important.
Clinical geneticists and genetic counsellors as a group value their interpersonal skills. We see patients who are afflicted with horrible genetic diseases and who are worried that their children might be likewise. We go on counselling courses to learn how to discuss the issues with them carefully and sympathetically. We don’t want to be fiddling around with non-intuitive software on computers when our patients are in front of us. There is increasing concern that doctors are spending too much time on mouse clicks at their computers and not enough on eye contact with their patients. People aren’t necessarily arguing that we shouldn’t be using electronic patient records; just that we need to keep an eye on the unintended consequences.
How can we improve pedigree-drawing software? There is another entry in the market for pedigree drawing software, called Evagene (further information here). It lets the user draw symbols with a mouse, which then ‘snap to’ a circle or square. Line connecters are then added. It’s good but it doesn’t go far enough, because the data which should be next to each symbol are entered on the side of the page, by keyboard. See the right hand panel of the figure below:
A pedigree is above all a visual thing. The information about each person on the pedigree is always next to that person, on a paper pedigree. It’s not and never has been down the side of the page.
There is an app for iPad users called NotesPlus. The developers have been trying to perfect note-taking with a tablet and the results are nice. They have symbol-drawing capability. It wouldn’t take much to adapt their software to pedigree-drawing. I have been in touch with them and they agree in principle.
Genetic databases with potential for a fully electronic patient record system are supplied by Trakgene, Shire and possibly others. The database systems have an integral pedigree-drawing software, or an interface with one, along mouse and keyboard lines.
This is what I would like to happen: Evagene people, please could you talk to NotesPlus people to try to make your software fully tablet/stylus based? Once you’ve joined up on this, please could you talk to the Trakgene or Shire people and ask them to integrate the result into their database software. Then we can really start to do away with paper in files of our patients!
I’ll restate the main message here. We would like pedigree software for the clinic, but with tablet and stylus.