Office of Population Health Genomics
December 2016 Newsletter
We are coming to the end of another very busy and successful
year for the Office of Population Health Genomics (OPHG). This
edition of the OPHG newsletter highlights some of the key pieces
of work that have progressed, and reflects on the partnerships
that have continued to build over the last six months.
The second half of this year has seen significant progress on
several of the initiatives within the WA Rare Diseases Strategic
Framework 2015-2018. People living with rare diseases are now
more likely to receive a diagnosis through streamlined genetic
services, and are informing future direction on care coordination.
In this issue...
* RUDDS: Improving diagnosis rates
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The team also presented at a number of national and
international conferences this year, where we highlighted the
health benefits of taking a collective approach to both rare
diseases and population-based screening.
for people with rare diseases
Paper published on decisionmaking for newborn screening
Understanding people’s
experiences of care coordination
Celebrating Cervical Cancer
Awareness Week
Learnings from the Rare Disease
Asia Conference 2016
Looking ahead, 2017 is set to be another big year for the team,
and OPHG is excited about the opportunities it will bring. Until
then, we wish you a safe and happy festive season.
Improving diagnosis rates for rare diseases
Western Australians with rare and undiagnosed
diseases are now better placed than ever to
receive a diagnosis, thanks to the Rare and
Undiagnosed Diseases Diagnostic Service
(RUDDS).
The service is a result of a collaboration between
OPHG, Genetic Services of WA and PathWest,
and streamlines the patient’s journey through the
health system. It capitalises on major advances in
genetic testing and technologies, some of which
were developed right here at WA Health.
strategies for the condition. The RUDDS has
improved rates of diagnosis for people with rare,
previously undiagnosed conditions from
10 per cent in 2014 to 30 per cent today.
Acknowledging this achievement, the RUDDS
was chosen as a finalist in the 2016 WA Health
Excellence Awards in the category of Improving
Service Delivery.
Dr Caroline Walker with the
certificate of achievement
as a finalist in the 2016
WA Health Excellence
Awards, along with OPHG
colleagues Belinda, Karla,
Hugh, Trinity and Faye.
Development of the RUDDS was focused on
achieving a diagnosis for a person’s condition, as
this is the key to developing better management
International differences in newborn screening decision-making
Last month, an article on international differences
in the evaluation of conditions for newborn
bloodspot screening (NBS) was published. The
paper was a collaborative effort between Karla,
manager of OPHG’s Screening Policy Section,
Selina Metternick-Jones and international partner
Dr Marleen Jansen of the Dutch National Institute
for Health and Environment/Vrije University.
The article reviews academic papers on
decision-making for NBS, then explores the key
themes identified through this review against
policy documents from eight countries, including
Australia. It highlights that key considerations
when evaluating conditions for NBS include:
who benefits from screening
* the way decision-making criteria are defined
* how evidence for screening is synthesised, and
* the subsequent recommendations for or against
screening.
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The article explains that the way different
countries have responded to these considerations
has shaped their NBS programs, and reflects each
country’s philosophical stance on how to manage
screening in their country. For more information on
the study, contact: [email protected]
Understanding people’s experiences of care coordination
People living with rare diseases often have
complex and long-term care needs. As such, they
often need to see multiple clinicians across the
spectrum of health care settings. Ideally this care
is coordinated, enabling it to be provided in a
timely, efficient and effective way.
OPHG has held three focus groups over the past
month with adults living with rare diseases and
their carers, and parents of children living with
rare diseases. The focus groups explored people’s
experiences with care coordination, as a first step
towards identifying the core elements of care
coordination and opportunities for improvement.
A total of 16 people took part in the focus groups,
with a maximum of six people in each group.
People living in both metropolitan and regional
WA took part in the discussions, providing detailed
accounts of their experiences. OPHG plans to
publish the findings from the focus groups in the
new year.
Celebrating National Cervical Cancer Awareness Week
National Cervical Cancer Awareness Week was held from
November 7-13 this year. The Screening Policy Section works
closely with the WA Cervical Cancer Prevention Program, and
showed its support by promoting cervical screening within the
Public Health Division’s office with posters and bunting.
Screening policy staff Karla and Faye,
with Professor Hugh Dawkins and
Professor Tarun Weeramanthri, showing
off the scarves and ties gifted by the WA
Cervical Cancer Prevention Program.
The screening team, along with OPHG Director Hugh Dawkins
and Assistant Director General Tarun Weeramanthri, also wore
scarves and ties that were printed with a design by local Aboriginal
artist, Nerolie Bynder Blurton. The design depicts WA women
coming together to talk and become more aware of how to prevent
cervical cancer. It also represents those women who have died
because they didn’t have cervical screening.
Currently, the best way to prevent cervical cancer is through
regular cervical screening every two years.
Sharing learnings on rare diseases internationally
The second Rare Disease
Asia Conference was held
in Malaysia last month, with
the theme of ‘working in one
voice’. The conference brought
together stakeholders in the
rare diseases community
across Asia, including patients
living with rare diseases,
carers, health professionals,
patient support organisations,
pharmaceutical companies and
government health officials.
Caron Molster from OPHG
gave two presentations at the
conference. The first explored
the impact of rare diseases
in Australia, and the second
discussed the development of
strategic frameworks for rare
diseases. The Assistant Director
General of Public Health at
WA Health, Professor Tarun
Weeramanthri, gave a keynote
address that focused on making
rare diseases an Asian health
priority.
the impact of rare diseases on
patients and the health system.
It also reinforced that WA is in
a unique position having OPHG
within government as champions
for the health care needs of
people living with rare diseases.
The conference consolidated our
understanding that rare disease
patients face similar issues
across the globe, and that more
local evidence is required on
About us
OPHG is a small team that sits in the Public Health Division of WA Health.
Its goal is to develop systemwide and service-specific public policy that
optimise the benefits of genomics for the WA population. If you would like
to learn more about the team and its work, or the projects outlined in this
newsletter, please email [email protected]
If you have any feedback please contact us at [email protected]. If you do not wish
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Disclaimer
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information on sites linked to this site. The OPHG does not accept responsibility for:
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technical difficulties
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Produced by the Office of Population Health Genomics
© Department of Health 2016
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