Genomics & pharmacogenomics – Your questions answered

Expert/s: Dr Alan Ma
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EA
0.5 hours

Educational Activities (EA)
These are activities that expand general practice knowledge, skills and attitudes, related to your scope of practice.

RP
0.5 hours

Reviewing Performance (RP)
These are activities that require reflection on feedback about your work.

MO
1 hours

Measuring Outcomes (MO)
These are activities that use your work data to ensure quality results.

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Description

The questions answered in this podcast are listed below.
They were compiled by GPs and professional attendees at our face-to-face seminars around Australia.

  1. When is genomic testing Medicare-funded?
  2. What role and responsibilities does a GP have in pre-conception genomic counselling?
  3. How should thalassaemia screening be managed outside family planning settings?
  4. How should a GP decide whether to refer to a clinical geneticist or order first-tier genomic testing?
  5. How useful are polygenic risk scores for assessing chronic disease risk in general practice?
  6. How should a GP interpret and action discordant or inconclusive results from a multi-gene pharmacogenomics panel?
  7. How should a GP manage a patient who presents with direct-to-consumer genetic test results suggesting a high disease risk?
  8. What is the role of pharmacogenomics in general practice?
  9. How often should pharmacogenomic testing be repeated?
  10. What genomic resources should GPs use for self-education?

 
Expert: Dr Alan Ma, Clinical Geneticist

Host: A/Prof Ralph Audehm, GP & Medical Educator

Total time: 32 mins
 
Recommended resources

 

Last Updated: 21 Oct, 2026

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Dr Alan Ma

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Dr Alan Ma

Clinical Geneticist; Department of Clinical Genetics, Sydney Children's Hospitals Network; Senior Lecturer, Specialty of Genomic Medicine, University of Sydney

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