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:
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.
No mice.
No keyboards.
Thank you!
