Summary
Doctors Sara and Lisa talk to Dr David Bartlett and GP Will Evans about an approach to rare diseases in primary care.
Doctors Sara and Lisa talk to GP Dr David Bartlett who works with the Neuroendocrine Cancer UK charity and GP Dr Will Evans who is a researcher specialising in rare diseases.
In the latest Primary Care Knowledge Boost Podcast, Sara and Lisa wanted to discuss how they approach finding rare diseases in General Practice whilst balancing this with the risk of over investigating. They start with definitions and classifications before discussing where neuroendocrine cancers fit into this landscape.
Listen to the podcast below or visit https://pckb.org/e/an-approach-to-rare-diseases-in-primary-care to view the podcast episode page.
Useful resources
- British Journal of General Practice Article: Rare diseases in General Practice: Recognising the Zebras among the Horses. Evans, W & Rafi I (Vol 66, 2016): https://bjgp.org/content/66/652/550
- Rare Disease UK: www.raredisease.org.uk
- Neuroendocrine Cancer UK: www.neuroendocrinecancer.org.uk
- Royal College of GPs eLearning on Neuroendocrine Cancers: https://www.rcgp.org.uk/learning-resources/courses-and-events/elearning-courses
- Medics for Rare Diseases: https://www.m4rd.org/
- Information on Beckwith Wiedemann Syndrome: https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/beckwith-wiedemann-syndrome-bws/
- Inattentional Bias Studies with Radiology:
- Mnemonic Family GENES Reference: Genetic red flags: clues to thinking genetically in primary care practice. Whelan et al. Primary Care: Clinics in Office Practice (Sept 2006): https://pubmed.ncbi.nlm.nih.gov/15331244/
- Resource with helpful leaflets for Chromosomal Diseases: https://rarechromo.org/
- OMIM: An Online Catalogue of Human Genes and Genetic Disorders: https://www.omim.org/
- Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1116/
- Orphanet Rare Disease Platform with Search Engine: https://www.orpha.net
- Rare Disease Search Engine: https://www.ndr-uk.org/browse
