Inherited disorders: Learning outcomes

Last updated: Wednesday, July 10, 2024

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After completing this tutorial, you will be able to:
  • Describe the role of the pharmacy team in managing patients with porphyria, phenylketonuria, glucose-6-phosphate dehydrogenase  deficiency and cystic fibrosis.
  • Know where to look for information if asked a clinical question about a medicine for a patient with one of these inherited disorders.

You can download a PDF of the whole tutorial (without interactive elements such as the Learning exercises).

You should allow 60 minutes to complete this tutorial.

Competencies

This tutorial is aimed at hospital foundation pharmacists but if you are a trainee pharmacist it will help you achieve GPhC learning outcomes such as these:

  • LO 12 Take an all-inclusive approach to ensure the most appropriate course of action based on clinical, legal and professional considerations
  • LO 16 Apply professional judgement in all circumstances, taking legal and ethical reasoning into account
  • LO 27 Take responsibility for the legal, safe and efficient supply and administration of medicines and devices
  • LO 29 Apply the principles of clinical therapeutics, pharmacology and genomics to make effective use of medicines for people
  • LO 30  Appraise the evidence base and apply clinical reasoning and professional judgement to make safe and logical decisions which minimise risk and optimise outcomes for the person
  • LO 34 Apply the principles of effective monitoring and management to improve health outcomes
  • LO 35 Anticipate and recognise adverse drug reactions, and recognise the need to apply the principles of pharmacovigilance
  • LO 48 Actively take part in the management of risks and consider the impacts on people

If you are a foundation pharmacist, this tutorial may assist with meeting certain competencies from the RPS framework including:

  • 1.1 Applies evidence-based clinical knowledge to make suitable recommendations or take appropriate actions 
  • 1.6 Uses own pharmaceutical knowledge to positively impact the usage and stewardship of medicines at an individual and population level.
  • 1.7 Undertakes a holistic clinical review of a person’s medicines to ensure they are appropriate.
  • 2.1 Keeps the individual at the centre of their approach to care at all times.
  • 3.1 Draws upon own knowledge and up-to-date guidance to effectively make decisions appropriately and with confidence.
  • 3.2 Critically appraises appropriate information to make a decision in an efficient and systematic manner; adopts evidence-informed solutions.
  • 3.3 Demonstrate awareness of where to seek appropriate information to solve problems and make decisions. 
  • 3.5 Manages uncertainty and possible risk appropriately, while ensuring high attention to detail is maintained when making decisions regarding the individual receiving care.
  • 6.5 Uses effective questioning when working with individuals receiving care or other healthcare professionals.

Continuing professional development


Finally, here are some CPD activities you could consider:

★ Listen to Ania's experience of living with acute intermittent porphyria and Joy's story of caring for her daughter with phenylketonuria
★  Speak to your medicines information team and ask to search MiDatabank for past enquiries on these inherited disorders. Are there any frequently asked questions?