Update: since I started this post last month, they have changed the access–it’s now FREE! Yay! Go try it out.
For this week’s Tip of the Week we revisit pedigree tools. We see a lot of interest in pedigree tools from researchers and from the public, in fact. Families have been encouraged to collect their own family histories by the Surgeon General’s office in the US. We’ve been big fans of the web-based Madeline 2.0 for a long time, and we have a training suite on that. We’ve also talked about plant pedigrees–so we are agnostic on species.
But I can also see the need to collect some of this information on mobile devices, during conversations with patients and families. Or even at the next family holiday gathering. And perhaps an iPad based tool might be handy for those sorts of things. I found out about one of them, Proband, via twitter:
— Nazneen Rahman (@rahman_nazneen) March 17, 2015
This tool has been developed by the DBHI–Department of Biomedical and Health Informatics at the Children’s Hospital of Philadelphia. So they have boots on the ground, and are dealing with real patient situations and have this need. For this week’s tip, I’ll let them show you the features of their tool (there’s no audio with this video).
Since I don’t have an iPad, I can’t evaluate it myself. But you may be interested in the review that was done of it a while back. Proband App lets anyone be a genetic counselor…or at least draw like one. The team is actively seeking out feedback, though, and some of these things may have changed. They have been presenting posters at conferences like ACMG and ASHG, and also reaching out in other ways too. When I emailed them with a question, they were very responsive. They also provided a data sheet with updates listed from March, so I’m certain they are continuing to actively develop this tool.
Typically we like to highlight open access tools,
but seemed to me the $4.99 app price isn’t exactly prohibitive if you already own an iPad. Just be sure to find the right one in the Apple store–it’s not the music one. Oh–related to this though–they are also considering other platforms. And they are piloting a server piece that will integrate the pedigree data with other parts of electronic health records systems. In another article about the team’s work (Genomic Singularity Is Near), they add more details on their larger goals:
“Miller asserts that in the future, Proband will be able to incorporate test results and other personal health information stored in electronic health records. “Querying pedigrees based on scientific and medical questions is another near-term goal,” he adds.”
Another point I’ll just quickly make about Proband: they noted in that Singularity article, and in one of their meeting abstracts that they are conforming to the standards established in the field:
The app enables the user to create complex family pedigrees by fully implementing, with minor exceptions, the nomenclature outlined by the Pedigree Standardization Work Group (PSWG) in Bennett et al. 2008.
This is crucial, of course, and I’m glad to see this. I’ve attached the reference for that Bennett paper below, and it has really helpful guidance on the symbols and meanings, and even astonishingly complex assisted reproduction relationships like this planned adoption: “Couple contracts with a woman to carry a pregnancy using ovum of the woman carrying the pregnancy and donor sperm.” (Fig 3. Wow, that’s some diagram. PS: *cough* googlescholar for pdf). I also saw that Proband are using the Human Phenotype Ontology (HPO). I expect to be exploring HPO in some other upcoming tips as well–this is going to be increasing important as we collect more sequencing data from individuals and try to figure out what it all means.
So if you need to draw pedigrees for clinical or research situations, or maybe for genealogies, you might want to have a look at this app. It might be an engaging teaching tool as well.
If you are new to pedigree drawing, or need a reminder of the basics, there’s a terrific intro video by this Genomics Education group. Direct link to the larger Vimeo verison.
Not sure how to draw a genetic family history pedigree? Watch our short video to find out how https://t.co/GewmbO85vb
— Genomics Education (@genomicsedu) February 5, 2015
Proband Pedigree App for iPad: http://probandapp.com/
Find them on twitter: https://twitter.com/ProbandApp
Bennett R.L., Kathryn Steinhaus French, Robert G. Resta & Debra Lochner Doyle (2008). Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors, Journal of Genetic Counseling, 17 (5) 424-433. DOI: http://dx.doi.org/10.1007/s10897-008-9169-9
Edited to note that the app is now freely available, and changed the screen shot accordingly.