Saturday 15 October 2016

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in fact having thoroughly scoured the internet for an Archers family tree, I could find only one, which was some years out of date, though still a good help to me in drawing mine.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.