Inherited disorders: Learning outcomes

Last updated: Tuesday, September 07, 2021

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 45 minutes to complete this tutorial.


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, [prescribing] and administration of medicines
  • LO 29 Apply the principles of clinical therapeutics, pharmacology and genomics to make effective use of medicines for people [including in their prescribing practice]
  • 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 help you meet competencies from the RPS framework including:
  • 1.2 Need for the medicine
  • 1.4  Selection of the medicine (medicine-medicine, medicine-patient, medicine-disease interactions)
  • 1.5 Medicine specific issues (ensures appropriate dose, selection of dosing regimen, selection of formulation and concentration)
  • 1.8 Evaluation of outcomes
  • 3.2  Knowledge 
  • 3.3  Analysing information

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?