Table 1:

Sample quotes from interviews illustrating the problems identified with the existing data management practices in the test laboratories.

Section	Issue	Sample Quotes from the semi-structured interviews
A	Problems of data maintenance by individual	“ I mean she’s very smart and she keeps good notes, but first she will go to the computer here and then she’ll go to her written notes, I mean without her, it would be very hard to back trace.” “Yeah, I’d have to train somebody, and that’s a big concern for me. I have started writing down protocols for different actions taken by the database, but I haven’t certainly completed it.”
B	Limitations to publication success	“Not really recording exactly how they did do it, but they’ll get as close as they can in the publication because they don’t have good records…usually the level of detail…there are many things that labs cannot even attempt… because of their lack of organization.” “But we’ve re-made a lot of things just because either we don’t know where something is, or even if we find it, it’s about papers, but a little more trivial detail, we don’t know exactly what sequence is in there, we don’t know exactly what restricted enzymes. So that is frustrating and it’s a big waste of time. ….that’s ridiculous that shouldn’t happen, but it does happen”
C	Problems of collaboration within as well as outside the laboratory	“Well, we have then XX and I meet once a week and we review what we’ve done. … And at that point, we assign a final diagnosis to the patient and she…you know, I say out loud what the final diagnosis is and she confirms it and we put it in the database.” “I can give data that I think are appropriate to answer a question to a biostatistician, but when they look at it, they see it from a different point of view…. and that spread sheet does not really encapsulate where it came from very well, how was it generated, was it random, how was this data collected.” “Their person in Europe wants the identified phenotype information... he’s not going to know what our variables mean. So, what do I do? I send him an email and I say, “These are our forms so you can see how it’s attached to the tables, but what exactly do you want? Basically, I have to keep kind of playing with it until I give them what they need” “The only common context which we have is just basic language, that is, in terms of disease terminologies, which of course are slippery.... There’s no common framework. There are still many gene names that are being changed.”