I would certainly view multiple layers or levels to the approach of a diagnosis with rare disease and acknowledge the fact that many physicians, even specialist physicians, will have limited knowledge of several rare diseases. Other physicians, such as myself, who practise in the area of medical genetics may have enhanced knowledge. I think Orphanet, which serves a number of roles, can be an early tool to help with diagnosis. A primary care physician or a family can search Orphanet, recognizing the symptoms that are present in the patient or their child, and can use that to try to guide toward a specific diagnosis. That can obviously help, because not every patient can see a geneticist. That can help set people on the right path. There is certainly searchable information there that can help direct to a specific diagnosis.
Now, many times formalizing that diagnosis may require a visit to a specialist and often confirmatory diagnostic tests, and that's a separate barrier. But we at least see Orphanet as a way to get people on the right track. As a clinician I have the experience of having met many people who are clearly alone, struggling with a lack of diagnosis. I get e-mails from people. I don't even know how they get my e-mail address, but I'm glad that they do. It predates my time in Orphanet. They just find me somehow. They're sitting in their living room somewhere, their child has something, and they've found me, provinces away, and they're asking for my help.
I think families are often isolated, and this is one more tool to help them.