Primary care physicians often have the unique task of deciding whether a patient who presents with an uncommon constellation of symptoms warrants a workup and referral for a possible rare disease. With evidence-based medical literature often sparse on the treatment of rare conditions, physicians often will go online to blogs or social media pages dedicated to children or adults with rare conditions. As the Wall Street Journal reported, the information found through these sites is often unreliable. These factors make diagnosing rare diseases disorders challenging.

A young child who lives in a rural area is seen by a pediatrician in a city many hours away. He has been noted to bruise easily and has some malformations of his thumbs. Following further history and evaluation, the physician considers Fanconi’s anemia on her differential diagnosis. The nearest pediatric hematology specialist is hundreds of miles away. As an alternative to taking a long trip to see a specialist, the pediatrician can initiate a work up using their in-house lab and x-ray equipment and can input her findings into the Score of Auerbach et al for Fanconi’s Anemia Based on the International Fanconi Anemia Registry (IFAR) available through Medal. By relying on the algorithm, the physician was not only able to get an accurate assessment of the possibility of disease, she also could respond in a more cost and time efficient manner– both hugely important considerations as we adapt our practices to comply with the Affordable Care Act.

A family physician sees a 38-year old male with signs and symptoms consistent with emphysema. He has never been a smoker. The doctor considers alpha-1-antitrypsin deficiency and using Medal’s iOS app on their iPad is able to obtain input their findings from the laboratory analysis. Together with the patient, the physician can show how an algorithm can be used to diagnose the more common variants and rarer mutant alleles using the Algorithm of Bornhorst et al for Evaluating a Patient for Alpha-1-Antitrypsin Deficiency.

Whether evaluating common conditions that present in classic ways or rare diseases that are difficult to identify, physicians and other members of the healthcare team can use medical algorithms to help in the diagnosis of a patient’s condition. Additionally, algorithms can assist primary care doctors in finding the appropriate specialist to help a patient manage their condition. With the vast resource of over 20,000 evidence-based algorithms available through Medal and the iOS app all members of the healthcare team can feel confident in creating an assessment and plan for virtually any medical condition.

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