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Patients of the Pathways Consult Service in the Department of Medicine at Massachusetts General Hospital have disorders whose investigation quickly arrives at the cutting-edge of knowledge, research and technology. While clinical recommendations are an important part of the Pathways Consult Service, we also seek to advance scientific understanding of the pathophysiologies of patients.
The cases selected for the Pathways Consult Service at Mass General touch on a wide range of questions in medicine. Past cases have led teams to ask what factors control the thickness and contractility of the heart wall, why glucocorticoids (a class of anti-inflammatory drugs) are not effective in treating scleroderma, an autoimmune disorder that results in the hardening of the skin and connective tissues, and what factors put patients at risk for thrombosis (blood clotting).
To answer these questions, the Pathways Consult Service teams propose scientific experiments that often go far beyond what is offered in standard clinical practice. Pathways Consult Service teams regularly send patient-derived samples to the Broad Institute for DNA sequencing, and collect samples from which patients’ cells may be reprogrammed into induced pluripotent stem cells. When performed, the proposed experiments can provide valuable insight into the causes of disease and lead to possible treatments for both our patient and the broader population of patients suffering from similar diseases.
By delving into the underlying mechanisms of disease, the Pathways Consult Service team identifies actionable diagnostic and therapeutic interventions that could tangibly improve the care delivered to patients.
The Pathways Consult Service offers two potential benefits for the evaluation and management of our patients. First, the in-depth consideration of unifying mechanisms that may underlie the patient’s presentation often leads to suggestions for further testing or even therapeutic interventions. These suggestions are not driven by novel technologies or laboratory effort, but on the reasoning that comes from alternative hypotheses. Second, the application of novel technologies available in research laboratories may identify biological signals with potential clinical relevance. To the degree that these signals can then be reproduced in appropriately certified settings, they may be able to offer new options for treatment.
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