From amyloidosis to Zellweger syndrome: How can the medical education system include thousands of rare diseases?

• Published in: New Zealand medical student journal no. 29; pp. 7 - 10
• Main Author: McKay, Lucy
• Format: Journal Article
• Language: English
• Published: New Zealand New Zealand Medical Student Journal 01.11.2019; New Zealand Medical Student Journal Society
• Subjects: Amyloidosis; Attitudes; Curricula; Diseases; Medical colleges; Medical education; Medical students; Patients; Rare diseases; Study and teaching
• ISSN: 1176-5178; 1179-3597; 1179-3597
• DOI: 10.57129/LLAR537929

Over 7000 rare diseases have been described in accordance with the European Union definition of a condition that affects fewer than one in 2000 people.1 An initial browse of Orphanet's Rare Disease Directory reveals a plethora of disparate conditions, 2 which would prove an insurmountable challenge should they all be represented in the medical curriculum. Firstly, their presentation can be incredibly varied; you can be born with a rare disease without any family history, have a long pedigree of rare disease, or acquire one in later life. This makes rare diseases, as a collective, impossible to assign to any particular de- mographic such as age or gender. Also, while every medical specialty will have its own "common rare disease", many rare diseases fall under a number of specialties and have no place that they can easily call home. Therefore not one specialty can take ownership of all rare con- ditions and, while some May suggest this is the job of medical genetics, it is estimated that 20% of rare diseases are not considered to have a genetic origin. 3 There are further challenges when teaching about how to spot rare genetic diseases, because one genotype can have drastically different phenotypes caused by processes such as variable penetrance and variable expressivity. That is to say, the same genet- ic change can manifest differently between individuals, even those in the same family. Given the myriad ways that different people can be affected by different rare diseases, it seems inevitable that there will be inequity in this area of medicine. Medics4RareDiseases (M4RD) is working on an educational approach that aims to equip medical professionals with the tools to think about rare disease as a single area of focus. We believe that basic training on the subject of rare disease with broad messages will help reduce inequity in the medical education system.