An Approach to Rare Diseases in Primary Care

Primary Care Knowledge Boost

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. We wanted to discuss how they approach finding rare diseases in General Practice whilst balancing this with the risk of over investigating. We start with definitions and classifications before discussing where neuroendocrine cancers fit into this landscape. Their pearls of wisdom could help us keep our antenae up, referrals helpful and resources for clinicians and patients well stocked.

You can use these podcasts as part of your CPD - we don’t do certificates but they still count :)

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: https://www.raredisease.org.uk/

• Neuroendocrine Cancer UK: https://www.neuroendocrinecancer.org.uk/

• Royal College of GPs eLearning on Neuroendocrine Cancers (search here): 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:

  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3964612/

  • https://pubmed.ncbi.nlm.nih.gov/17412097/

• 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.findzebra.com/https://www.ndr-uk.org/browse

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This podcast has been made with the support of GP Excellence and Wigan CCG. Given that it is recorded with Greater Manchester clinicians, the information discussed may not be applicable elsewhere and it is important to consult local guidelines before making any treatment decisions.

The information presented is the personal opinion of the healthcare professional interviewed and might not be representative to all clinicians. It is based on their interpretation of current best practice and guidelines when the episode was recorded. Guidelines can change; To the best of our knowledge the information in this episode is up to date as of it’s release but it is the listeners responsibility to review the information and make sure it is still up to date when they listen.

Dr Lisa Adams, Dr Sara MacDermott and their interviewees are not liable for any advice, investigations, course of treatment, diagnosis or any other information, services or products listeners might pursue as a result of listening to this podcast - it is the clinicians responsibility to appraise the information given and review local and national guidelines before making treatment decisions. Reliance on information provided in this podcast is solely at the listeners risk.

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