Word Count: 600
Read time: 4 minutes
Author: Dr. Sumreena Mansoor
Affiliation: Department of Biochemistry, Shifa College of Medicine, Islamabad

A disease is said to be rare when the number of persons affected is less than 5 per 10,000. There are about 5,000 to 8,000 known rare diseases and majority of them have a strong association with genetics and family history. According to a rough estimate by the WHO, one out of every 15 persons worldwide could be affected by a rare (“orphan”) disease. In Pakistan, it is quite difficult to screen the population for rare diseases through using genetic testing therefore training of physicians to signs and symptoms of rare disorders is extremely important.

If we do not change current practices of training medical students about rare diseases, graduating physician might not be able to diagnose these disorders. Generally, knowledge of physicians about conditions encountered frequently is reinforced in clinical practice and they start forgetting essential facts related to less frequently encountered conditions.

Keeping in mind the current situation, our concern is how to improve physicians’ training in a resource-constrained environment to help them equip for identification and management of such conditions.

It is unrealistic to initiate courses for familiarization with each disorder but some measures can be taken to improve the current situation. I have listed some strategies which might be beneficial to improve educations and training about rare diseases.

a) Medical educationists can establish a group of trainers who can provide video recording of patients with rare diseases. With consent and approval of physicians and patients, we can perhaps even present a live ‘rare disease patient’ to medical students through video links.

b) Virtual contact of learners with patients of rare diseases could reduce their apprehension and they might be able to assimilate that knowledge in their long-term memory. In such trainings, trainers can highlight diagnostic tools, resource constraints and importance of detailed family history (including pedigree), for rare diseases.

“Today’s physician is not just a person who knows about whole medical knowledge, but a person who knows the possibilities and sources of authentic medical knowledge”.

c) Participation of medical students in support groups and clubs for rare diseases may also play an important role in this regard. As patients of rare disorders usually have high level of awareness about their problems, such activities can help us to initiate research programs and to deal with the problem of quality of life of patients with rare diseases. Enabling such patients to participate in such activities may also help to convince policymakers and the pharmaceutical industry to invest more in these patient groups.

d) Assessment is an important component of medical teaching and learning process. Use of direct questions and exclusion of common conditions could also be useful strategy for assessment of such training programs. Even a single encounter or discussion with patients of a rare disease may prove useful for medical students. Hosting events at their schools and universities to raise awareness in their community and designing special modules for rare diseases could be an innovation in medical curriculum. Lack of data about such student-led research modules may provide great potential to be published in quality journals.

To conclude, medical education about rare disease is ignored in developing countries and it is our collective responsibility to improve this flaw of our education system.