During today's presentations, we have heard about existing and new technologies that can expand the scope of newborn and genetic screening. My role as a genetic counselor in this sphere involves assisting individuals and families as they go through the process of confirmation of some screening results, follow-up care, and family adjustment. In addition, I counsel families who are making decisio...

During his lifetime the practicing ophthalmologist will see more than a few retinitis pigmentosa cases. It is his responsibility not only to diagnose and prognosticate this eye disease, but also to set aside a little time in which to advise the patient and his family on its genetic aspects. Retinitis pigmentosa has been established as a definite hereditary disorder. Therefore, the most importan...