The experienced Genetic Counselor based in Florida tells us how her clinic uses Face2Gene in the workflow as a collaborative tool.
“Our clinic is made up of a combination of five geneticists and five genetic counselors. We’re very fortunate to be able to see people of all ages throughout their lifetimes, and have no real limitations on the indications that we see. We see genetics cases across the board, whether it is kids with birth problems, developmental delays or older people with neurological findings” said GC Samantha Augustyn. “Sometimes we have a straightforward diagnosis and can do very specific testing just to confirm what we think. Other times we must do whole exome sequencing or genome sequencing because we don’t quite know what the answer is.”
“Face2Gene complements our workflow and enables us to work as a team. Obviously not everyone is seeing everything and not everyone is an expert in every single area, but we all have a lot of experience between us. We use Face2Gene as a collaborative tool to talk about the patient and make sure there’s nothing that we are majorly missing.”
“We take a picture of as many of our patients as possible, specifically the undiagnosed ones, and follow it through. Genetic testing is done and when the report comes back, we go back to Face2Gene to see if the relevant syndrome appeared there.”
“Knowing that Face2Gene is a protected setting that our team can have access to, we use this tool to share information between us to not only see what the algorithm gives us back in terms of possible syndromes, but also all the different professionals within the team can view the clinical notes. We can share this information and ask, ‘has anyone ever seen somebody with these features before? Here are pertinent positives, here are pertinent negatives.‘ This helps build the story and solve the problem as a team.”
This allows a conversation that can add pertinent points to what the app is showing us, almost like a new person looking at it with an outsider’s perspective that can bring something that is important to think about.
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