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cost-effective as technology advances.6,12
Depending on the level of sensitivity of
the information, the results can then be
stored in a variety of ways, for example
online, on a thumb-drive, a phone app,
an e-health card or in a secure pharmacy
computer. Pharmacogenomic information
relating to common gene variants that
are only relevant if a person is prescribed
certain medications is far less sensitive than
clinical genetic information about unusual
mutations predisposing to serious health
conditions.6 The stored genomic information
can then be checked for relevant variants
whenever a new medicine is commenced or
if a patient is not responding appropriately
to treatment. The pharmacist would then
be able to counsel the patient on their
medication and dosage regimens and,
if appropriate, refer them to a GP.
GenesFX Health already provide DNAdose
customers and their prescribers with the
service of making results available for
future drugs, in addition to the drugs the
person is using when the test is done.
Interpretation of DNAdose outcomes is
revised regularly based on up-to-date,
evidence-based international guidelines
and currently uses the new standards of
the Royal Dutch Pharmacy association
and the Clinical Pharmacogenetics
Implementation Consortium (CPIC).
Pharmacogenomics testing is now a
reality with pharmacists poised to take
a place at the forefront of the field.
The Australian Medical Association
believes that genetic testing will
increasingly play an important and vital
role in mainstream health care in terms
of preventive health and diagnosing
and treating illness. The AMA recognises
that genetic testing and associated
counselling in health care may require a
multidisciplinary approach with a range
of health professionals.
With the Guild
Roadmap pharmacogenomics initiative
and the transition to routine offering of
genomic testing services now moving
ahead with the Chemmart DNAdose
trial, Australian pharmacists are taking
the first steps towards a new approach
to healthcare and better quality of life
for patients. The Roadmap recognises
that as this new field enters practice,
the pharmacy profession will need
to develop standards and guidelines
that comply with relevant legislation.
It will also be essential to support local
pharmacists in building their knowledge
and skills in this area through continuing
professional development training (CPD)
and other education programs.
Pharmacogenomic testing at PSA15
Accredited consultant pharmacist Sam
Mostafa is the Director of Pharmacy
Services at GenesFX Health, a leading
provider of pharmacogenomic testing and
interpretation services in Australia.
He will be speaking at PSA15 in Sydney at
the end of July. Sam will describe outcomes
from a current Australian pharmacy pilot
study investigating the feasibility of
running an in-house pharmacogenomics
testing service in pharmacy.
His presentation will also provide an
introduction to pharmacogenomics using
case studies to illustrate current clinical
applications. He will discuss current
developments in pharmacogenomics and
directions for future developments.
Currently Sam is heading pilot
studies looking at the provision of
pharmacogenomic testing services
through community pharmacies
Sam has many years of experience in
pharmacogenomics. In conjunction with
GenesFX Health, Sam has developed
expert software to provide clinically useful
interpretation of complex genetic results.
He is also involved in many research
projects at GenesFX including the recent
implementation of a unique drug safety
system at the Royal Melbourne Hospital.
Pharmacogenomics testing services
are now entering pharmacy practice in
Australia, providing pharmacists with the
opportunity to take leading roles in this
new area of healthcare.
• DNAdose: www.dnadose.com.au
• Chemmart Pharmacy: www.chemmart.
• Australian Medical Association
2012 position statement on genetic
• Pharmacogenomics Knowledgebase
(PharmGKB) and Clinical
Consortium (CPIC): www.pharmgkb.org
1. National Health and Hospitals Reform Commission. A
Healthier Future for all Australians - Final Report, Jun 2009.
Commonwealth of Australia; p72.
2. The Pharmacy Guild of Australia. Community Pharmacy
Roadmap Program Development Template. 2010. At: www.
pdf?sfvrsn=0 (cited 2015 Feb 20).
3. DNA Dose. At: www.dnadose.com.au/ (cited 2015 February 20).
4. The Pharmacy Guild of Australia. The RoadMap. 2010. At: www.
guild.org.au/the-guild/strategic-direction (cited 2015 Feb 20).
5. Graham M, Milward L. The future of personalised healthcare in
pharmacy practice. Aust Pharm 2014;33(7):58–61.
6. Milward EA, Daneshi N, Johnstone DM. Emerging
real-time technologies in molecular medicine and the
evolution of integrated ‘pharmacomics’ approaches to
personalized medicine and drug discovery. Pharmacol Ther
7. Ingelman-Sundberg M. Pharmacogenetics of cytochrome
P450 and its applications in drug therapy: the past, present
and future. Trends Pharmacol Sci 2004;25(4):193-200.
8. Kirchheiner J, Seeringer A. Clinical implications of
pharmacogenetics of cytochrome P450 drug metabolizing
enzymes. Biochim Biophys Acta 2007; 1770(3):489–94.
9. Koren G, Cairns J, Chitayat D, Gaedigk A, Leeder SJ.
Pharmacogenetics of morphine poisoning in a breastfed
neonate of a codeine-prescribed mother. Lancet
10. Crews KR, Gaedigk A, Dunnenberger HM, Leeder JS, Klein TE,
Caudle KE, et al. Clinical Pharmacogenetics Implementation
Consortium guidelines for cytochrome P450 2D6 genotype
and codeine therapy: 2014 update. Clin Pharmacol Ther
11. Van Driest SL, Shi Y, Bowton EA, Schildcrout JS, Peterson JF,
Pulley J, et al. Clinically actionable genotypes among 10,000
patients with preemptive pharmacogenomic testing. Clin
Pharmacol Ther 2014;95(4):423–31.
12. Barrett PM, Topol EJ. Pharmacogenetics: Point-of-care
genetic testing - a new frontier explored. Nat Rev Cardiol
13. Swen JJ, Nijenhuis M, de Boer A, Grandia L, Maitland-van
der Zee AH, Mulder H, et al. Pharmacogenetics: from bench
to byte – an update of guidelines. Clin Pharmacol Ther
14. Hicks JK, Swen JJ, Thorn CF, Sangkuhl K, Kharasch ED,
Ellingrod VL, et al. Clinical Pharmacogenetics Implementation
Consortium Guideline for CYP2D6 and CYP2C19 Genotypes
and Dosing of Tricyclic Antidepressants. Clin Pharmacol Ther
2013;93(5):402–8 (and see https://www.pharmgkb.org/drug/
PA448385#PA166105006 and https://www.pharmgkb.org/
15. Australian Medical Association 2012 position statement on
genetic testing. AT: https://ama.com.au/position-statement/
genetic-testing-2012 (cited 30 Mar 2015)
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