Winter - Genetic Support Network Victoria

WINTER 2014
Clinical utility of Next
Generation Sequencing
By Nandini Somanathan
CONTENTS
GSNV
Message from the team 3
In Focus
Next Generation Sequencing 1
Genomic tests raising ethical questions 4
PGD for Autism, why the controversy? 6
Funding for PGD 7
Research & Resources
Research Study: Win a tablet! 2
Research Study: Attention in children
2
Research Study: Cleft lip & Cleft palate 9
Research: Melbourne Genomics
14
Resources: Haemoglobinopathy Registry 10
Genetic Support & Advocacy
Melbourne Genomics Health Alliance
8
Rare Diseases Day 11
Telehealth by Amanda Griffiths 12
Services
“What’s that Lab?” 13
Volunteer Profile: Prader-Willi Syndrome 15
Support Groups
Support: Huntington's Conference 14
Support: Cardiomyopathy Australia 15
Bits & Pieces Calendar of Events
16
Survey Results 16
My name is Nandini Somanathan, and I am from Glasgow, Scotland. I completed a
BSc degree in Genetics and an MSc degree in Medical Genetics from The University
of Glasgow. I worked for two years as a Genetic Technologist at The Royal Children’s
Hospital, Glasgow. In 2011 I came to Australia, where I worked for two years as a
Medical Scientist in Cytogenetics in VCGS Pathology at The Royal Children’s Hospital,
Melbourne. I have recently begun my training as a Genetic Counsellor and I am
currently enrolled as a 1st year student in the MSc Genetic Counselling degree at The
University of Melbourne.
Next generation sequencing (NGS) is a
high through-put technology that allows
for scientists to understand how genes
and their protein products function in
the human body. The technology is an
advancement on the original Sanger
sequencing and has proved to be a lowcost, reduced waiting time and highly
accurate diagnostic tool. To give a better
understanding, the complete human
genome can be sequenced in less than 2
weeks for approximately US$4000-5000.
However, some experts have argued
that in a diagnostic setting, NGS is only
effective if the data is interpreted correctly
and that the mutations seen are well
documented and researched to be able to
provide a correct analysis/diagnosis.
Over the years, much research has gone
into understanding the genetic basis of
Mendelian disease. The introduction of
NGS provided the basis of discovering
new mutations as well as understanding
the genetics behind already known
pathogenic disorders. NGS is derived on
the basis of massive parallel sequencing;
meaning millions of DNA segments
can be sequenced at the same time.
There are various platforms available,
all having their own advantages and
disadvantages based on data produced,
time, cost and accuracy. NGS generates
GSNV Murdoch Childrens Research Institute, Royal Children's Hospital,
Flemington Road, Parkville, VIC 3052
large amounts of data – an individual
case can highlight up too approximately
25000 polymorphisms; as such this
data needs to be filtered until the correct
mutation is identified. This requires going
through databases comparing these
polymorphisms to a control/normal
population and thus eliminating those
that are non-pathogenic.
There are however drawbacks with
NGS, such as: difficulties detecting
repeat expansions, this would make
detecting triplet repeat disorders
like Mytonic dystrophy, Huntington’s
disease and Fragile X extremely
difficult. If misalignment occurs during
the sequence, then pathogenic point
mutations could be missed completely.
Looking at the analysis needs a good
understanding of molecular medicine;
this would require extensive training for
clinicians and scientists so a correct
diagnosis can be established.
From a research perspective NGS will
provide a gateway to understanding rare
Mendelian disorders, as well as detecting
brand new mutations and perhaps
identifying mutations where a phenotype
has been seen but no known genetic link
has been identified. NGS is a powerful
and important tool within research, as
more new mutations are discovered
Cont. page 2
P (03) 8341 6315 | E [email protected]
www.gsnv.org.au
GSNV
Participate in study
Committee of
Management
Kay Timmins
President
Vice President Shona Malberg
Treasurer
Rachel Pope-Couston
Secretary
Monica Ferrie
General Committee Members Abbie Kinniburgh Charlotte Stockwell
Christine Williams Doreen Floyd
Emma Swain Hanna Leslie
Katarina Radonic Maree Kinniburgh
Margherita Coppolino Marie Dunn Moira Rayner
Committee
Meeting Dates 2014
Participate in a research study exploring
the value of assessing and addressing a
person’s religion and spirituality as part of a
genetic counselling session.
A goal of this study is to find out if people’s
religion or spirituality affects the decisions
they make in genetic counselling and if it
has an impact on adjusting to the genetic
condition in the family. A second goal is to
find out if people want the genetic counsellor
to address their religion and spirituality
during the session. Only people who have
taken part in a genetic counselling session
with a genetic counsellor are eligible for this
study. The study is being conducted by
researchers at Wayne State University in
Detroit, Michigan. Completing the survey
should take between 5-20 minutes.
To take the survey visit
www.surveymonkey.com/s/L8Y968J
Contact Amanda Bartenbaker
+1 313 577 6298 or
[email protected]
COVER STORY
Cont. from page 1
Clinical utility of
Next Generation
Sequencing
and gene functions are understood, it
is helping to redefine the way molecular
diagnostic testing is performed.
In conclusion, NGS is a technology
that is at the forefront of genetic research
and diagnostics. While there is much
still to be understood, NGS will prove to
be very advantageous when used to its
full potential. The advantages seem to
outweigh the disadvantages and as
more training is invested into interpreting
the data produced, it is possible that
NGS will be popular clinically as the
current microarray technology.
at all meetings.
Thursday 19 June
Thursday 21 August
Thursday 18 September
Thursday 16 October (AGM)
Thursday 20 November
Network of Victoria Inc. The opinions
expressed are not necessarily those of the
GSNV staff or committee. The views and
opinions expressed in this newsletter are
those of the individual authors.
The material in this newsletter is for
information purposes and does not
constitute medical advice. GSNV articles
maybe sourced and reproduced by
support groups and other forums, but the
GSNV requests written advice beforehand
and written acknowledgement of the
source is provided, once permission
is given.
2
Cont. from page 1
Fragile X – An intellectual disability
disorder that affects males more severely
than females.
High through-put technology – Allows
researchers to purify, identify, and
characterize DNA, RNA, proteins and
other molecules on a large scale. These
methods enable rapid analysis of very large
numbers of samples.
Huntington’s Disease (HD) – Also
known as Huntington’s Chorea, is a
severe neurodegenerative disorder, that
predominantly begins in adult hood.
Pathogenic – The ability of a mutation to
cause disease.
Phenotype/Genotype – The phenotype
of an individual is their physical appearance
that is determined by their genotype
– which is their genetic make-up, (or
the genes they have inherited from the
parents).
Point Mutation – A genetic change where
a single nucleotide (the building block of
DNA/RNA) is replaced for another. This
can also include the insertion or deletion of
a single nucleotide.
Mendelian Disease – A disease caused
by a change in a single gene
Thursday 17 July
The GSNV quarterly newsletter is
published by The Genetic Support
GLOSSARY
Polymorphism – Also referred to, as
Single Nucleotide Polymorphisms (SNP)
is a single nucleotide variation between
members of a species.
Teleconferencing will be available
Thursday 18 December
GSNV
DOES YOUR CHILD HAVE
DIFFICULTY FOCUSING
OR SEEM DISTRACTED?
Problems in attention result in difficulties in learning and behaviour at home and in the
classroom. Monash University is working on the first project to develop a validated attention
training game using android technology. Participants will be allowed to keep the
tablet once their participation in the study is complete.
Who can take part? If you have a child aged between 4 – 10 years who has a
developmental disorder (autism, Fragile X syndrome, Down syndrome, Williams syndrome
or a pervasive developmental disorder not otherwise specified (PDDNOS)).then you are
eligible to take part.
For more information please contact us:
Email: [email protected] Phone: 03 9905 0230
Genetic Support Network of Victoria Winter 2014
Microarray Analysis (MA) – Another
molecular technique, microarray analysis
can determine and individuals genotype.
Also, MA can determine whether
individuals have lost genetic information
(deletions), or gained genetic information
(duplications).
Mutation – A change to the nucleotide
sequence of a gene. This may alter
the function of the gene and can cause
various genetic diseases depending on the
location of the gene change.
Mytonic Dystrophy (MD) – The most
common adult form of muscular dystrophy,
MD is a progressive muscular degenerative
disorder, with types 1 and 2.
Sequencing – Also known, as DNA
sequencing is a molecular method used to
determine the order of the nucleotides: A,
T, G and C (molecular building blocks) in
our genome.
Message from the team
Welcome to the Autumn/Winter 2014 edition of the GSNV Newsletter. It is
hard to believe Easter and Anzac day are already behind us and with the
public holidays over, we are at the business stage of the year. The GSNV
team are busy planning important calendar and awareness dates, education
and special seminars and improving our responses to Victorians seeking
assistance and support.
Recent highlights have been a special
visit by Ann C. M. Smith (Smith Magenis
Syndrome) who gave a presentation to the
VCGS Functional Genomics seminar on
May 30th and met with families at a family
picnic organised by SMS families. Ann
C. M. Smith’s visit to Victoria was greatly
supported by grants made available by
the HGSA Victoria/Tasmanian branch and
GSNV. If support groups are interested
in inviting clinicians and researchers from
overseas to Victoria in order to provide
a research or information update to their
community, the GSNV is available to discuss
and or assist.
We’ve recently been working very hard on
our Governance and Operations models in
order to improve how we run our services.
The GSNV committee is integral to the
development and implementation of
the GSNV’s vision, mission and
strategic objectives.
I take this opportunity to thank
the 15 Committee members who have
worked very hard with me over the past few
months to achieve measurable outcomes
and intended goals under the GSNV
business actions plan. Thank you to our
Committee for working with the GSNV team
to greatly improve efficiencies!
The GSNV team has changed again. As
we actively recruit students and graduates
we tend to be a bit of a revolving door
but nonetheless an excellent working
environment for young professionals. We
sadly say goodbye to Emily Higgs and
Catherine Beard who were integral to the
GSNV for over a year and contributed
greatly to overall improvements in our
operations and communications.
Thank you Catherine and Emily for your
impeccable work and commitment to
the GSNV as a service provider. We now
welcome Anna Jarmolowicz (Administration)
and Keri Pereira (Genetic Support and
Education) who will work with existing team
members (Nancy Amin – Administration
and Communications and Louisa Di Pietro –
Group Leader).
The GSNV also employs Nandini
Somanathan as a casual and has a number
of volunteers supporting our team. The
GSNV staff look forward to business as
usual as they settle into their respective roles
and achieve a number of priorities
for 2014.
During the month of June the GSNV team
will be operating without their Group Leader
as I will be attending the European society of
Human Genetics (ESHG) and the European
Meeting on the Psychosocial Aspects of
Genetics, Milan.
I look forward to reporting on this wonderful
opportunity and the outcome of presenting
an oral presentation on research conducted
by Emma Swain and supervised by the
GSNV Group Leader.
We hope you find this edition of our
Newsletter interesting and always welcome
your feedback on any editorial and/or
Newsletter contributions.
Louisa Di Pietro,
Group Leader
Genetic Support Network of Victoria Winter 2014
3
IN FOCUS
IN FOCUS
New genomic tests are providing many answers
but also raising ethical questions by Erin Turbitt
If a simple blood test could tell you that you are at a high risk of developing cancer would you want to know?
Erin Turbitt is a final year PhD
student with the Department
of Paediatrics, University of
Melbourne, based within
the Genetics Education
and Health Research group
at the Murdoch Childrens
Research Institute. In 2007 Erin completed a
Bachelor of Biomedical Science (Honours) at
Victoria University in Wellington, NZ where she
majored in Human Genetics and Molecular
Pathology. Prior to commencing her PhD,
Erin was employed as a Research Assistant
in molecular biology laboratories, where she
was involved in developing new techniques
for gene mutation detection in a range of
human conditions. Through her firsthand
experience analysing and interpreting genomic
data, Erin became interested in how genomic
technologies were being practically and
ethically managed in the clinic. This motivated
her to begin a PhD on this topic in 2011.
Erin’s PhD project aims to uncover: patients’
and health professionals’ experiences and
expectations, and the apparent benefits,
harms and capabilities of current and future
genome products, with implications for training
and education. An outcome of this project will
be to guide the development of new models
for best clinical practice when incorporating
these new genomic technologies.
Erin’s PhD supervisory team comprises of
Prof. Sylvia Metcalfe, Prof. Jane Halliday
and A/Prof. David Amor
4
Prof. Sylvia
Metcalfe
Sylvia Metcalfe is
Professor in Medical
Genetics in the
Department of Paediatrics at the University
of Melbourne and Group Leader of
Genetics Education and Health Research
(in the Genetics theme) at MCRI. She has
a BSc (Hons) and a PhD in biochemistry
from the UK, with a broad background
of biomedical laboratory based-research
from London, New York and Melbourne
spanning about 18 years.
Since 1997 her research interests have
moved away from the lab, and now
include the understanding of genetics
by health professionals and the
community especially in terms of the
implications of genetic technologies,
genetic screening and testing, and the
impact of genetic diagnosis.
Professor Jane Halliday
is Head of Public
Health Genetics at the
Murdoch Childrens
Research Institute and an NHMRC Senior
Research Fellow.
Jane was on the NHMRC Human Genetics
Advisory Committee from 2007-2012. As
an experienced epidemiologist with 153
peer-reviewed publications, her current
research focuses on uptake of new genetic
technologies, particularly those related
to prenatal diagnosis and population
screening for genetic disorders.
She has recently been leading several
NHMRC-funded projects investigating
offspring health outcomes following
specific exposures in pregnancy,
including those associated with assisted
reproductive technologies and teratogens
such as alcohol.
She teaches human genetics to a range
of undergraduate and postgraduate
students at The University of Melbourne,
as well as providing continuing professional
development nationally and internationally,
and has produced a number of
educational resources.
Genetic Support Network of Victoria Winter 2014
Prof. Jane Halliday
A/Prof. David Amor
David Amor is Director
of VCGS which
provides clinical and
laboratory genetics
services in Victoria,
Tasmania and the Northern Territory.
David trained in paediatrics and genetics
at the Royal Childrens Hospital before
completing a PhD in Chromosome
Biology at the Murdoch Childrens
Research Institute. His current research
focuses on the translation of new genetic
technologies into clinical practice and
the identification of genes for
rare syndromes.
With technology advancing at such a rate,
genomic tests being used in Australia have
the potential to uncover additional and
sometimes unexpected information. Doctors
and patients are currently grappling with
so called ‘incidental findings’. Because
genomic tests will gather information
about many different genes, there exists
the possibility for detecting a gene error
(mutation) not related to the original
reason for testing. Imagine a child being
investigated for delayed development and a
mutation in a gene that could cause cancer
later in their adult life is uncovered. Not
only this, but when the parent is tested, the
same cancer causing mutation is detected
in their genome. As a parent, would you be
grateful for this information and the potential
to take preventative measures? Or would
you rather not know?
A form of these new genomic tests was
added to the Australian Medical Benefits
Schedule in 2010. They are now being
widely used to help doctors diagnose
children with unexplained delayed
development. The tests have been useful in
providing answers for many families, who
previously did not have a diagnosis for their
child. A genetic diagnosis for a child with
delayed development can help parents to
access early intervention programs, and
give families information about the chance
of future pregnancies being affected.
While there is no cure for these types of
conditions, early intervention can have a
profound effect on quality of life.
As with the introduction of any new test
into the clinic, a period of adjustment exists.
It may take a number of months or years
before the wider implications of the test are
realised and often guideline development
for best practice will lag behind. One of the
implications to using genomic tests is the
detection of incidental findings. Currently in
Australia and internationally, no guidelines
exist about whether incidental findings
should be returned to patients. Most
research suggests that patients do want to
be told about incidental information, but very
few studies investigated this topic when the
patient undergoing testing is a child.
The doctor’s perspective:
There are no guidelines for doctors in
Australia to follow when they come across
an incidental finding. When incidental
findings are uncovered, they are handled on
a case-by-case basis, and protocols may be
different across Australian states. Preliminary
guidelines from the America College of
Medical Genetics and Genomics (ACMG)
for the return of incidental findings were
released early last year. These guidelines
state that when clinical genomic sequencing
(a type of genomic test) is performed for
any reason, 57 additional genes must be
examined along with the genes involved in
the patient’s disorder. These guidelines have
caused a stir amongst ethicists, researchers
and clinicians in the genetics community.
While some agree with the guidelines,
others argue that following the guidelines
may breach a patient’s autonomy, their
‘right not to know’, especially if the patient
is a child.
The patient/families perspective:
When considering a child undergoing
testing and an incidental finding is
detected, there are reasons both for and
against the child and their parents learning
this information:
Reasons for:
• If prevention or treatment is available,
the knowledge could be life saving for
the child in the future.
• The information could be life saving
for the child’s parents or other family
members if they also are at risk for
this disease.
Against:
• Traditionally testing children for
‘late-onset’ diseases such as cancer
is not recommended.
• There is a potential for discrimination
and complications relating to life
insurance coverage.
• The information may cause harm to the
child such as increasing anxiety
or other forms of distress.
Regardless of whether there is agreement
over the ACMG guidelines, they have
started an important discussion, and
further research is needed to guide the
use of these tests in the clinic.
Recent data from researchers at Murdoch
Childrens Research Institute adds an
Australian perspective to this guideline
discussion. The study showed that when
doctors are evaluating what incidental
findings should be returned to children and
their parents, the availability of treatment
and prevention for the related disease is
considered most important. For instance,
doctors would be more likely to tell patients
about their high risk of developing breast
cancer where treatment and preventative
options are beneficial, rather than their high
risk of developing an incurable condition
such as Alzheimer’s disease. The 57 genes
on the ACMG guidelines all correspond to
diseases for which treatment or preventative
options are available.
Genetic Support Network of Victoria Autumn/Winter 2014
5
IN FOCUS
IN FOCUS
Preimplantation Genetic Diagnosis
(PGD) for Autism: Why the controversy?
Preimplantation genetic diagnosis (PGD) is a technique that helps select healthy embryos for pregnancy through in-vitro
fertilisation (IVF). During this process, genetic material is sampled from a 3-5 day old embryo (before implantation – an
early stage of pregnancy where the embryo attaches to the wall of the uterus) and analysed for either a specific genetic
disorder that is known to be present in the family, or for its chromosome make up. The healthiest embryos are then selected
and transferred to the uterus in the hope of establishing a pregnancy.
PGD was originally developed for couples who
were at risk of having children with disorders
caused by single gene changes. Another use
of PGD is to help avoid conditions that might
be due to the contribution of many different
genes and happen to affect children of a
particular gender, to a greater frequency and
severity. An example of this is Autism, in which
boys are four times more likely to be affected
than girls. Studies have also shown that for
parents that have had one child with Autism,
they have an increased risk (compared to
other couples) of having a subsequent child
with Autism.
The use of PGD for selecting female embryos,
which are less likely to be affected by Autism,
was recently approved by health authorities in
THE PATIENT
REVIEW PANEL IN
VICTORIA
The PRP is a group of five members
predominately from the health industry
and at least one member who has
expertise in child protection matters
who consider complex and sensitive
applications for medical treatment
or procedures that lead to or
attempt to lead to pregnancy in
a woman through assisted
reproductive technologies.
For more information see:
www.health.vic.gov.au/prp/
6
Western Australia (W.A.), and caused some
controversy. Headlines such as “Embryo
Sex Selection To Select Against Autism?”
appeared in the media.
Why has this
caused controversy?
Whether parents should be allowed to
select for a preferred sex using IVF has been
controversial. Social sex selection (for example
for ‘family balancing’) is not permitted in
Australia. Social sex selection differs from
sex selection for the purpose of decreasing
the risk of a genetic (or combined genetic
and environmental cause) condition. Although
selecting for embryos that don’t carry a
specific single gene disorder is permitted,
selecting for female embryos to decrease
the risk of a genetic condition has been less
readily accepted by the wider community.
In addition to some public discomfort
regarding preferentially selecting for one
gender over another, there have been specific
concerns raised by some opponents about
whether selecting against a condition such as
Autism should be permitted. Some arguments
raised are:
• People with Autism add a diverse set
of talents which benefit society (the
‘neurodiversity movement’)
• Autism is a spectrum of disorders ranging
from mild difficulties with communication
and socialisation (or even undetectable) to
severe intellectual impairment that renders
the affected child unable to communicate.
Selecting against Autism in general may
mean selecting against those who would
be mildly affected too.
Genetic Support Network of Victoria Winter 2014
• Some fear a ‘slippery slope’ effect
will occur, suggesting that if selection
for female embryos to reduce the risk
of Autism is permitted, selection for/
against desirable/undesirable traits may
become more common, moving
towards ‘eugenics’.
It is important to note that the biological
and genetic basis of Autism is still not fully
understood therefore selecting for female
embryos may decrease a risk but not
guarantee a given outcome.
Important considerations
In W.A., fertility clinics submit applications
for all PGD cases for consideration by the
Reproductive Technology Council of W.A. who
consider all applications on a case-by-case
basis and there is currently no list of preapproved conditions. The selection of a female
embryo to reduce the chance of Autism would
only be done in families that have already had
one child with Autism i.e. they are at increased
risk of having another child with Autism.
What happens in Victoria?
Every state is different in the way that they
approach sex selection. Melbourne IVF and
Monash IVF have been offering sex selection
in favour of female embryos for couples with 1
or more children with Autism for about
10 years. In the past, Victorian couples were
able to access sex selection if they had a
child with Autism at the discretion of their
clinical geneticist. Initially each case required
specific approval from the Victorian Assisted
Reproductive Treatment Authority (VARTA),
but later a ‘blanket approval’ was provided for
this indication.
Since the introduction of the Patient Review
Panel (PRP – see box) in recent years, the
‘blanket approval’ for sex selection for couples
seeking to reduce their risk of having another
child with Autism has been lifted and these are
now assessed on a case by case basis by the
PRP. In order for the couple to be considered
suitable for sex selection, their child with
Autism needs to have testing to exclude other
known causes of Autism such as Fragile X
syndrome and Rett syndrome for example.
The sex selection process is recognised
to need continued improvement, but has
supported patients' autonomy in making
informed choices in their best interests. The
numbers currently accessing this service
are low (about 2-3 couples per year seen at
Melbourne IVF and about 5 couples are seen
at Monash IVF).
Conclusions
The debate regarding use of PGD to select
for female embryos in attempt to reduce the
likelihood that the child will be affected with
Autism is complex. Families need to weigh
up the risks and ethical consideration and
decide for themselves how they view Autism
and make a decision that is in their and their
families’ best interests.
Disclaimer: The GSNV encourages informed
decision making on a case by case basis and
purports a balanced consideration of all the
psychosocial and ethical factors that may
influence decision making on PGD for at risk
couples. Professional guidelines on the use of
Assisted Reproductive Technology (ART) are
currently under review by the National Health
and Medical research Council (NHMRC) which
has recently conducted a public consultation
(by submission) in order to further inform the
development of revised ethical guidance on
ART. Copies of the consultation document are
available from: http://consultations.nhmrc.gov.au
or can be obtained by emailing
[email protected]
Further information is also available at:
www.nhmrc.gov.au/health-ethics/australianhealth-ethics-committee-ahec/assistedreproductive-technology-art/assistedReferences and further discussion:
Amor DJ and Cameron C. PGD gender selection
for non-Mendelian disorders with unequal sex
incidence. Hum Reprod. 2008 Apr;23(4):729-34.
•www.ncbi.nlm.nih.gov/pubmed/18222917
•www.varta.org.au
Media articles:
• www.theconversation.com/prenatalscreening-and-autism-20395
•www.theguardian.com/lifeandstyle/2009/
jan/12/prenatal-autism-test
•www.sbs.com.au/news/article/2013/11/18/
should-there-be-prenatal-screening-autism
•http://au.news.yahoo.com/a/19457937/
•www.forbes.com/sites/
emilywillingham/2013/10/21/embryo-sexselection-to-select-against-autism/
•www.bioedge.org/index.php/bioethics/
bioethics_article/10784
•www.sciencealert.com.au/
features/20132911-25054.html
•http://health.thewest.com.au/news/1013/
wa-allows-embryo-screening-for-autism
More information about the spectrum of
Autism symptoms:
• www.helpguide.org/mental/autism_
spectrum.htm
Information provided by A/Prof David Amor
(consultant clinical geneticist) and Tenielle Davis
(Associate Genetic Counsellor at Monash IVF).
Funding for PGD
Currently there is no Medicare reimbursement
for Preimplantation Genetic Diagnosis
(PGD) for reducing the risk of single gene
disorders (disorders that are caused by
a mutated gene) and translocations (a
chromosome abnormality where parts of
different chromosomes are swapped). Genea
(previously Sydney IVF) over the last four
years has been campaigning for equity of
access and made submissions to the Medical
Services Advisory Committee (MSAC) to
determine if PGD is eligible to apply for listing
on the MBS. Earlier this year Genea reported
that their application had progressed to public
consultation phase which was concluded on
21 March 2014.
The GSNV will report on the outcomes of
the public consultation in a future issue of
the Newsletter.
Please note: The campaign for MBS funding for
PGD is for single gene disorders or chromosomal
re-arrangements and thus as separate issue to the
PGD for Autism which is thought to be caused by
the interplay of many genes and environment.
References:
• www.msac.gov.au/internet/msac/
publishing.nsf/Content/1165
•www.smh.com.au/national/heartbreakfor-parents-with-rare-genetic-condition20111107-1n3yp.html
•www.genea.com.au/my-fertility/whygenea/blog/february-2014/campaign-formedicare-funding-for-pgd
•www.genea.com.au
Genetic Support Network of Victoria Winter 2014
7
GENETIC SUPPORT & ADVOCACY
RESEARCH
Melbourne Genomics Health Alliance
By Gemma Brett and Ella Wilkins
RESEARCH
A new initiative, the Melbourne Genomics Health Alliance, has brought together some of the very best health, research and
education organisations in Victoria.
Gemma Brett is a
Research Genetic
Counsellor and
will be responsible
for counselling
patients in the
Melbourne Genomics
demonstration project
at the Royal Children’s
Hospital. After a Bachelor of Medical
Science, Gemma relocated to Germany
for a Master of Molecular Bioscience
(Developmental Biology). She has
undertaken laboratory research in human
genetics within Heidelberg University
Hospital (Germany) and Karolinska
University Hospital (Sweden).
Gemma completed her Master of Genetic
Counselling in Melbourne, including a thesis
exploring genetic health professionals’
experience with direct-to-consumer genetic
testing in their clinical practice. She recently
returned to Melbourne after working to
establish the Public Health Concern
Trust Nepal as a national centre for
research excellence.
Ella Wilkins is the
research genetic
counsellor responsible
for counselling Royal
Melbourne Hospital
participants in the
Melbourne Genomics
demonstration project.
Ella has a Bachelor of
Science majoring in genetics with honours
in medical biology and has previously
worked in medical research laboratories
investigating the genetics of leukaemia,
lymphoma, and Parkinson’s disease.
More recently she completed a Master
of Genetic Counselling, including a thesis
exploring the experiences of parents of
children who received uncertain results
from a chromosomal microarray test.
Research continues to improve our
understanding of the role differences in a
person’s genes play in determining their
health, the course of a disease and its
8
response to treatment. At the same time,
new technologies have made it possible to
look at large amounts of genetic information
quicker and cheaper than before.
As a result, information about genes is
increasingly influencing diagnosis and care
(“genomic medicine”).
A new initiative, the Melbourne Genomics
Health Alliance, has brought together
some of the very best health, research
and education organisations in Victoria –
The Royal Melbourne Hospital, the Royal
Children’s Hospital, The University of
Melbourne, Walter and Eliza Hall Institute,
Murdoch Childrens Research Institute,
CSIRO, and Australian Genome Research
Facility – in order to achieve its vision of
facilitating the rapid integration of genomic
medicine into everyday healthcare for the
betterment of patients.
The Alliance’s five year vision is clinically
driven and depends on the ethical sharing
of data to ensure that genomic information
is available for patient care and research
across the participating organisations. The
Alliance also aims to facilitate the rapid
implementation of genomic research into
healthcare and improve patient access to
genetic information.
The first phase of the Alliance’s vision
involves conducting a “demonstration
project” to find out if a single genomic
sequencing test could be performed
regardless of a patient’s medical condition
and how this can used in clinical practice.
This project is currently underway with
genomic sequencing being offered to
participants at the same time as standard
medical care and the investigations that
their doctor would normally arrange.
Participants are patients of The Royal
Melbourne Hospital or The Royal Children’s
Hospital and are invited to participate if they
have specific conditions, including acute
myeloid leukaemia, an inherited neuropathy,
hereditary colorectal cancer, childhood
syndromes, and focal epilepsy (see highlight
Genetic Support Network of Victoria Winter 2014
The impact of participation
in genetic research
box). While there may be little direct benefit
to the study participants in the shortterm, this research will provide valuable
information to determine how to provide
this testing in the future.
A vital component of this study is to
understand participants’ experiences of
having genomic sequencing, and their
preferences. Participants are being asked
for their views on the use of genomic
information and what is important for
doctors to consider when offering testing
and giving results. In addition, the study
aims to incorporate feedback from
clinicians as well as experts from each of
the participating organisations in the form
of working groups. A Community Advisory
Group, which has Louisa DiPietro as a
member, provides the Alliance project team
with input and advice to ensure that the
community’s needs and expectations are
being represented.
Outcomes from the demonstration project
will guide other elements of the Alliance’s
work including the establishment of shared
approaches to the analysis, management
and application of genomic information
among the Alliance members, and the
development of a workforce skilled in
clinical genomics. They will also inform
the development of a business plan for
implementation and funding of the Alliance’s
full vision.
For more information please visit
www.melbournegenomics.org.au or email
[email protected]
Alternatively, please contact our Research
Genetic Counsellors:
Gemma Brett, Royal Children’s Hospital
[email protected]
Ella Wilkins, Royal Melbourne Hospital
[email protected]
The Group leader of the GSNV, Louisa
Di Pietro, currently sits on the Melbourne
Genomics Alliance Consumer Advisory
Group, working to ensure there is sufficient
feedback and input from this important
stakeholder group.
Donoghue LJ, Sahhar MA, Savarirayan
R, Raj S, Kilpatrick NM, Forrest LE. J
Community Genet. 2014 Feb 6
Abstract
Despite being the most common congenital
facial anomaly, little is understood about
the genetic contribution to isolated clefts
of the lip with or without cleft palate
(CL/P). 'OzCleft', a family-based genotype/
phenotype study, is investigating this further.
Participation for families involves various
clinical investigations of the child with the
cleft, and their unaffected sibling(s)
and parents.
Improving attention in children
Monash University, Clayton is conducting a study on improving attention in
children with intellectual disability using a computerised training game.
Background and aims:
Concentration and attention problems
have a significant impact on educational
achievement and social integration. It
is hoped that this research will produce
an effective attention training program
that not only improves concentration
and inattentive behaviour but also helps
academic skills such as basic literacy
and numeracy.
Who can participate:
Boys and girls aged between 4–10 years
with a diagnosis of intellectual disability
are invited to participate.
What will be required:
The study would involve you and your
child attending a session at Monash
University, Clayton. Your child will
complete a series of game based and
academic tasks. As a parent you will be
asked to complete some rating scales
regarding your child’s attention and
behaviour. At the end of this session
you will receive one of two games. These
games run on tablets similar to Ipads so
are portable and easy to use. The game
received may be the Attention Training
Program or an unrelated computer game.
Your child will be asked to play the game
at home, for 15 minutes daily for five
weeks. After this five week period, we will
reassess your child. Brief assessments
will occur again at 3 months.
Once your involvement in the study is
complete you will be allowed to keep
the tablet as a thank you for your
participation.
This research is being conducted through
Monash University by Hannah Kirk under
the supervision of Professor Kim Cornish
and Associate Professor Kylie Gray.
For more information please contact the
researchers on: [email protected]
or 9905 0230.
Informal feedback from individuals involved
in OzCleft suggested that participation in
this research programme had benefits for
families. Taking a qualitative approach, this
study sought to investigate this hypothesis
further. Semi-structured in-depth interviews
were conducted with nine parents who had
participated in OzCleft.
All parents described participation as a
positive experience for themselves and
their families. Perceived benefits included a
greater appreciation of the cleft treatment
experience by unaffected family members.
Being involved in a genetic study raised
issues for parents regarding the cause of
clefting in their child.
While some parents found the possibility
of a genetic component reassuring, it
also raised questions about the potential
implications for future generations.
Parents were largely unsure about how
to communicate this information to their
children and the predictive value of
this information.
This study suggests a lack of genetic
understanding and/or perceived value of
genetic information by parents of children
with CL/P that, in turn, highlights the need
for increased support from genetic health
professionals in this area.
Genetic Support Network of Victoria Winter 2014
9
SERVICES
GENETIC SUPPORT
& ADVOCACY
Haemoglobinopathy Registry Project
by Ri Scarborough, Haemoglobinopathy Registry Project Officer, Monash University
An update on the national Haemoglobinopathy Registry project. By now, many of you have already heard about the
national Haemoglobinopathy Registry project, being launched by the Transfusion Outcomes Research Collaborative
based at Monash University with our hospital partners.
A/Prof Erica Wood, a haematologist and
transfusion medicine specialist,who also
works at Monash Medical Centre, is leading
the project at Monash University, with the
support of a national steering committee of
haemoglobinopathy experts.
The steering committee is chaired by Prof
Joy Ho from Royal Prince Alfred in Sydney,
whom many of you will know. Even more
of you will know Dr Jim Vadolas from the
Murdoch Institute at the Royal Children’s
Hospital, who has also recently joined
the project steering committee. We look
forward to Jim’s input.
We also wish to convey our sadness on
the passing of Maria Kastoras, who had
been an enthusiastic supporter of the
Haemoglobinopathy Registry project, from
the first time Erica and I spoke with her
about it, in early 2013. We deeply regret
that Maria did not live to see the benefits
that the project will bring to the entire
Australian haemoglobinopathy community
that she cared so much about.
Ten major hospitals have signed up for
Stage 1 of the project, including Monash
Medical Centre (other hospitals will be
added later). If you are receiving care at
any of these hospitals, over the coming
months, you will be invited to participate in
the Haemoglobinopathy Registry and will
receive a brochure about it.
echocardiograms. We had hoped to be
able to begin collecting patient data from
our pilot sites, Monash Medical Centre
and Royal Prince Alfred Hospital, before
Christmas last year, but due to some
unforeseen delays, this is now likely to
begin in March.
Your participation in the registry is voluntary
and if you decide to participate now you
can still opt out at any time. All personal
and medical information is kept strictly
confidential. We do hope that you will allow
us to learn from your story.
With your agreement, we will be collecting
information such as when you were
diagnosed, what your exact diagnosis
is, any complications you have had, and
what medications and transfusions you
receive. In Stage 2 of the project, we
will ask your doctors for some additional
information, such as results of scans or
If you have any
questions about the
project, please email me
on [email protected]
They may have very high health
care requirements throughout their
lives, including needing many blood
transfusions and experience serious
complications from the disease itself
as well as from the necessary
lifesaving treatment.
and analysed to find out which
strategies work best for patients.
The Haemoglobinopathy Registry (HbR)
aims at forming an important framework
for future research to improve patient
care. Patient information will be collected
10
Haemoglobinopathy Registry
Stage 1 sites
This program will also bring together
a network of Australian health care
professionals with a special interest
in haemoglobinopathies.
References:
•www.torc.org.au/HbR
• Thalassemia Australia Summer Newsletter
2014 Volume 6 Issue 17
Genetic Support Network of Victoria Winter 2014
In this section of the newsletter we ask for support group members to write about an issue that is important to them.
We want to hear about the issues that are close to your heart, we value your contribution.
Thank you for joining together and raising hands for Rare Disease Day 2014!
The Genetic Support Network of Victoria (GSNV) invited professionals, individuals and families to celebrate Rare Disease Day on
Friday 28 February and encourage community awareness around this important day. The seminar's theme was "the psychosocial
impact of rare diseases: exploring feelings of responsibility and feelings of isolation". The event was a great success!
Haemoglobinopathy Research
People with haemoglobinopathies
do not produce enough or make
abnormal haemoglobin (e.g.
thalassaemia and sickle cell disease),
which can cause a wide variety of
health issues.
Your Thoughts
QLD
Mater Adult Hospital
WA
Princess Margaret Hospital
Sir Charles Gairdner Hospital
SA
Royal Adelaide Hospital
Women's & Children's Hospital
NSW
Royal Prince Alfred Hospital
The Children's Hospital
at Westmead
Prince of Wales Hospital
VIC
Monash Medical Centre
Royal Children's Centre
With over 50 attendees comprising a mix
of campus staff, support group leaders
and individuals living with rare conditions,
it was a terrific opportunity to bring together
all those in the rare disease community.
Rare Disease Day raises the awareness
of rare diseases and importantly focuses
on the profound impact on people
affected personally, their families
and carers.
Two personal stories presented by Nicole
Millis (MPS Society of Australia) and Mandy
Jacobs (NPC Foundation of Australia)
provided some insight on the experience
during diagnosis and life thereafter for
families such as theirs, in the rare disease
community. Further presentations from
Dr Sue White and Flora Pearce explored
the clinical perspective of ‘a heightened
sense of responsibility regarding the genetic
aspects of a diagnosis and feelings
of isolation.’
The take home message from the
presentations was that parental reaction
and coping mechanisms around a new
diagnosis vary greatly, but aspects such as
a person’s culture, lived experience, beliefs
and knowledge along with their resilience
and ability to adapt influences their journey
over all.
The GSNV was pleased to see attendees
'raise their hands' in support of rare disease
patients around the world. In a symbolic
gesture, attendees had an opportunity to
add their hand to a patchwork of hands, in
colour creating a collage of joining hands.
This very simple exercise indicated that
both professionals and individuals impacted
by rare diseases are driven to join together
in finding effective cures and treatment,
therefore embracing the international Rare
Disease Day goal of ‘joining together for
better care.’
YOU can support better care for Australians
living with a rare disease by signing the
Rare Disease pledge form:
www.rarediseasedayaustralia.com.au/
sign-the-join-together-for-better-carepledge/
By signing you help us to raise the
awareness amongst the general public and
decision makers about rare diseases and
the impact they have on those affected
personally and their families.
The campaign continues well after the
February 28 every year and the GSNV
continues to follow developments on behalf
of all Victorians and Australians living with
rare disease.
This year’s celebrations were a true
partnership, with great support from MCRI.
The GSNV thanks all who supported Rare
Disease Day.
Genetic Support Network of Victoria Winter 2014
11
SERVICES
GENETIC SUPPORT
& ADVOCACY
Telehealth and Respiratory Healthcare
by Dr Amanda (Mandie) Louise Griffiths MBBS, B Med Sc., FRACP Respiratory and Level II Sleep
Mandie is a paediatric respiratory and sleep physician with current public hospital appointments in both Respiratory
Medicine and Sleep Clinic at the Royal Children’s Hospital, Melbourne.
She consults privately at Melbourne and
Victorian Children’s Clinics. She performs
telehealth consultations from all 4 clinical
locations. She has additional sleep
laboratory associations with the Melbourne
Children’s Sleep Centre at Monash
Medical Centre and Cabrini Brighton Sleep
Disorders Centre. Her Respiratory and
Sleep fellowships were completed at the
Royal Children’s Hospital in Melbourne,
Princess Margaret Hospital in Perth
(Respiratory and Level II Sleep) and
Froedtert Hospital in Milwaukee, Wisconsin
(Sleep mini fellowship).
She works primarily in complex respiratory
and sleep disorders including difficult
asthma, obstructive sleep apnoea,
narcolepsy and the hypersommnias,
behavioural sleep disorders, chronic
suppurative lung disease and restrictive
lung disease (including neuromuscular
disorders which may require ventilation
during sleep). She is a member of the
RACP, TSANZ, ASA and Sleep
Health Foundation.
I do most of my telehealth consultations at
the Royal Children’s Hospital (RCH). I
work in two clinics, respiratory medicine
and Sleep Clinic. I do individual telehealth
appointments at the start or end of my
standard clinics, and then I do a respiratory
telehealth clinic once every 2 months. That
day I consult solely from an office over the
computer rather than from outpatients. I
book up to 7 patients into that afternoon.
They are mostly review patients who I
know are suitable for telehealth as I have
conducted a face-to-face appointment at
the hospital first. There is the occasional
new patient who I would approve prior by
doing some investigating around a referral
12
(they would never be booked by admin staff
without my knowledge). This is because
not all consultations are appropriate for
telehealth, but in general I feel review
appointments are more appropriate than
new patients. There have been several
recently where the patient just could not
get to a face to face appointment, for
example, VCE students in the country, and
they would not have sought medical care
in Melbourne without telehealth availability.
This has not been a regular impression for
me, but maybe I don't get told that piece of
information always!
There are definitely some types of
consultation that telehealth is better suited
to. I see patients who need diagnostic
sleep studies, and the review appointment
for the results is often short. It is very
appropriate for telehealth, as you can share
your computer screen and talk through
the pages of the results with the patient
watching their own screen. Mostly I have
done these appointments directly from the
patient’s home, but last week I did one with
a GP and family together. It was harder to
arrange, and no doubt took some time out
of the GP's schedule, but it worked better
for that patient as the GP was able
to go over the detail again with the family
for reinforcement.
I think that GP also learnt quite a lot
about paediatric sleep studies that day.
Most of my regular respiratory and sleep
patients can have intermittent telehealth
consultations. If the examination is
particularly important, such as during
intercurrent illness, it is best to have a
GP or specialist at the other end, or to
convert to a face to face. If there is an
important tertiary investigation, such as
a lung function test, then face to face is
better, although we are looking at ways
to transfer this out into the community as
part of a telehealth package. Generally
most conditions such as asthma, cystic
fibrosis, chronic lung disease, obstructive
sleep apnoea, behavioural sleep disorders,
narcolepsy, children on respiratory support
Genetic Support Network of Victoria Winter 2014
and many others also are appropriate for
telehealth. I like to alternate with face to
face consultations for several reasons, but
one is that it is always easier to relate to
the patient/parent in person better than
by telehealth. It is good to establish that
relationship first so it's easier over
the computer.
The software we use is good, but the
internet connection may not be perfect and
there could be minor delays or feedback at
times. It is very uncommon not to be able to
proceed. Part of this is because all patients
at RCH have a telehealth pretest done by
an administrator prior to the appointment
day. This means troubleshooting can occur
first and there is no time wasted during the
appointment. You still need to allow more
time than for a face to face appointment,
which is a deterrent to some doctors,
especially in private practice.
There is definitely the need for admin
support for clinics and pretests. Patients
in remote areas are assisted by our admin
support, and the support from the software
that we use. It is not hard to set up – as
long as they have a computer, internet
connection, camera, microphone and email
address they are good to go! Lots of kids
are able to do it themselves these days
without much support at all. Teenagers love
it! Younger kids also win, as they get to
play with their own toys in the backroom,
dropping into range from time to time
when needed.
Overall it takes very little effort to make a
huge difference to a lot of families. There is
the time saved for not needing to travel, not
to mention the reduction in road traffic and
potential for reduction of road accidents,
improved access to specialist care, upskilling of local GP’s and specialists, and
with no deleterious effect on the child’s
medical care.
What is Telehealth? Telehealth is the delivery
of health-related services and information via
telecommunications technologies.
“What’s that lab?”
Walk To Cure Diabetes
Held all around Australia in October, the
Walk to Cure Diabetes creates a great
opportunity to build awareness of type 1
diabetes (T1D) in your community and raise
funds for our researchers. At the Walk to
Cure Diabetes you can meet other families
who live with T1D, enjoy a healthy day of
fun family activities, learn more about the
services that can help you live with T1D and
learn about the latest research projects.
Since the Walk to Cure Diabetes has been
held in Australia the event has raised over
$28 million for T1D research.
Find out how research has progressed
in the last 20 years and learn about our
current research projects. To register your
interest for the 2014 Walk to Cure Diabetes
please provide your contact details so we
can send you an invitation to register in July.
Please see website for more details:
www.jdrf.org.au provide your contact
details here: https://jdrf.wufoo.com/
forms/2014- walk-to-cure-diabetes
Our new regular segment, ‘What’s that lab?’, aims to inform our members about the
laboratory services of the Victorian Clinical Genetics Services (VCGS). In this edition
James Pitt, Head of Newborn and Metabolic Screening Group, tells us about the lab’s role.
Each working day, an average of 300
samples from Victorian babies arrive at the
Newborn Screening (NBS) Laboratory at
VCGS. The lab tests >99% of babies born
and samples are collected in maternity
hospitals, large and small, across the
state. A few drops of blood are taken from
the baby’s heel between 2 and 3 days
of life and placed on a special absorbent
paper card, often called a “Guthrie card”
after the inventor of this system. These
dried blood spots, and the ease with
which they can be transported, are the
keys to effective newborn screening
programs across the world. Samples
undergo three NBS tests:
• Thyroid stimulating hormone, a marker
for congenital hypothyroidism
• Immunoreactive trypsinogen, a marker
for cystic fibrosis
• Tandem mass spectrometry testing,
which detects 25 genetic disorders
affecting metabolism, phenylketonuria
and medium chain acyl-coenzyme A
dehydrogenase deficiency being the
most frequent.
The good news is that these disorders are
rare. Overall, 1:1,000 babies are affected
by one of the above disorders. The other
good news is that effective treatments are
available for most of them. The important
thing is that treatment is most effective
if started early, preventing the inevitable
long-term damage to the baby that would
otherwise occur. Since it started in 1966,
the NBS program has prevented the
major disablement or death of hundreds
of Victorian babies, allowing them to
develop into normal, healthy adults.
For further information see the VCGS Newborn
Screening website http://goo.gl/8tX85j
Some recent publications:
• Charles T., Pitt J., Halliday J., Amor DJ.
Implementation of written consent for
newborn screening in Victoria, Australia.
Journal of Paediatrics And Child Health.
50(5):399-404 (2014)
• Massie RJ., Curnow L., Glazner J.,
Armstrong DS., Francis I. Lessons learned
from 20 years of newborn screening for
cystic fibrosis. The Medical Journal of
Australia. 196 (1) : 67 - 70 (2012)
Genetic Support Network of Victoria Winter 2014
13
National Huntington’s Conference,
Perth
Embracing Opportunities
RESEARCH
SUPPORT GROUPS
University of Western Australia, UWA Club
11 – 12 September
2014
National Huntington’s
Conference,
Perth
Embracing
Opportunities
Save the
date
University of Western Australia, UWA Club
Huntington’s WA invites you to the National Huntington’s Conference in Perth, bringing together
11 researchers,
– 12 September
2014 SAVE
THE and
DATE
family members,
allied health professionals,
care workers
members and
Rare Disease
Registries
A new international collaboration called
PhenomeCentral www.phenomecentral.org
will see scientists and clinicians worldwide
share information in a bid to speed up
the discovery of genes responsible for
rare disorders.
supporters of all Huntington’s Disease Associations across Australia.
Huntington’s
WA invites you to the
Perth is a delight to experience in
National
Huntington’s
Conference
in speakersSeptember
as Wildflower season is in
An exciting
line up of inspirational
keynote
includes
Perth, bringing together family members,
full swing.

Richard Faull
researchers, allied health professionals,
Why not extend your stay and
 workers
Nellie Georgiou-Karistianis
care
and members and
experience the September Wildflower
supporters
of all Huntington’s Disease

Tony Mims
Festival held annually at Kings Park and
Associations across Australia.
Gardens,
just 1.5km
from the
as well as presentations around living well with Botanic
HD, sharing
best practice
and translational
An
exciting
line upyouth
of inspirational
city. Kings Park also offers guided and
research,
engaging
and exploring new boundaries.
keynote speakers includes
self guided walking trails including a tree
Perth is a delight to experience in September as top
Wildflower
season is in
full swing. Why
not
walk providing
spectacular
views
•extend
Richard
Faulland experience the September Wildflower Festival held annually at Kings Park
your stay
across the city as far as the Darling
•andNellie
Georgiou-Karistianis
Botanic Gardens, just 1.5km from the city. Kings
Park September
also offers guided
and self time
guided
ranges.
is a popular
for
• Tony Mims
walking trails including a tree top walk providing spectacular
views
acrosstothe
city as
far as the
tourists so
be sure
book
early.
Darling
ranges.
September isaround
a popular
time for tourists so be sure to book early.
as
well as
presentations
living
Full Program and registration including
well
with HD, sharing best practice and
Full Program and registration including links to accommodation
and popular tourist
activities
links to accommodation
and popular
translational research, engaging youth
available shortly from www.huntingtonswa.org.au. tourist activities available shortly from
and exploring new boundaries.
www.huntingtonswa.org.au
The Chromosome 18 Registry
& Research Society
For families of a child that has just
been diagnosed with a chromosome
18 abnormality.
www.chromosome18.org
CART-WHEEL Center for
Analysis of Rare Tumors
A rare tumor database designed to collect
information from individuals with rare
tumors by way of a user-friendly online
survey. This project will help address some
of the barriers facing effective research into
rare types of tumors and rare subtypes of
common cancers.
www.cart-wheel.org
14
Volunteer profile
Megan Jackson is a PhD student from the
University of Canberra who doing some
research into ways that schools could
work better with adolescents living with
critical or chronic illness. She is looking
for young people with chronic illness, their
parents, teachers and medical specialists
to complete an online questionnaire:
www.canberra.edu.au/faculties/estem/
research/postgraduate (scroll to link
at the bottom of the page to the section
titled “Current Postgraduate Research
Projects”).
My name is Heather
Chalinor and I am studying
a Masters of Genetic
Counselling. I have a
background in biological
science and work part
time at the MCRI as a research assistant.
Our lab is interested in how tumours in the
stomach and colon develop into cancer.
All survey responses are confidential,
though there is an option for providing
your contact details if you would be willing
to be interviewed later, and so that Megan
can get the tablet computer to you if
you win.
If you have any questions about the
research, please feel free to contact Megan
at: [email protected] or
her PhD supervisor, Dr Chris Kilham, at:
[email protected]
Rare Cancer Registry
The mission of the RCGR is to create a
registry of participants with rare cancers
who are available to participate in research
studies, and an accompanying DNA bank
for genetics research.
www.rarecaregistry.org
Participate in
Online Research!
Melbourne Genomics
Cont. from page 8
Donna and her two daughters Chloe and
Hannah all have the same neuropathic
genetic condition, which causes extreme
muscle weakness. But, despite a lifetime
of hospital management, very little is
known about the condition and how it
can be treated.
“We still don’t 100 per cent know what
condition we have,” Donna said. “We
know we have something, we know it’s
a muscle weakness that makes climbing
stairs impossible for me and keeping
up with other children a challenge for
Chloe and Hannah, but it would be
nice to have some answers. Hopefully,
this alliance can find answers for our
family, and those answers can benefit
other families experiencing the same
unknowns as us,” she said.
Genetic Support Network of Victoria Winter 2014
Cardiomyopathy
Australia
Cardiomyopathy Australia is a
support group for people living with
cardiomyopathy and their families.
It provides access to information and
support through various means: a
quarterly newsletter, regular meetings
in some states, access by phone to a
contact person in each state and New
Zealand, and to a `phonelink’ to chat with
another member about their experience
of cardiomyopathy.
Heather Chalinor
I have been a volunteer for various
organisations over the last few years,
including Wesley Mission, Down Syndrome
Association of Victoria and now the
GSNV. As a GSNV volunteer I am able
to link up with organisations who need
some assistance on short term projects
or in an ongoing capacity. My most
recent assignment was helping to set
up a database for Tina, the executive
director of the Prader-Willi Syndrome
(PWS) Better Living Foundation. Tina and
I communicated via phone and email to
clarify what tasks she needed completed
and a timeframe to work within. Once
complete, I caught up with Tina and was
given an insight into the everyday life of
children with PWS and their families. She
is a delightful and truly inspiring lady and
I wish her and the PWS Better Living
Foundation all the very best into the future.
The personal and professional growth
attained during volunteer experiences are
unique and invaluable; I can help people/
organisations who appreciate my help and
who really care about improving the health
and life of others. I have enjoyed my time
as a volunteer to date and am sure I will
continue to do so.
Tina Costanzo
The Prader-Willi Syndrome community in
Victoria is a small one with only 161 people
living with the complexity and challenges
that PWS brings. The PWS Better Living
Foundation is volunteer run with a mission
to improve standards of care and to
research housing models for young people
and adults living with PWS.
Together with PWSA Victoria we aim to
improve the quality of life of our community.
We do not receive government funding and
reliant on donations and membership for
our funding. So, when I learnt about the
support provided by the Genetic Service
Network Victoria, I was relieved there is
another organisation that we could turn to
for advice and support. In particular, the
volunteers students from the volunteer
program have been fantastic in updating
database information and assisting with a
recent Professional Caregivers Forum.
The volunteers have been professional,
punctual and a great resource for us. We
are extremely grateful for your support and
encourage other smaller organisations to
speak with the GSNV about your needs as
you are not alone.
Tina Costanzo, President
PWSA Victoria
Mobile: 0438178374
For more information about Prader-Willi
Syndrome go to: www.pws.asn.au and
The PWS Better Living Foundation:
www.pwsbetterliving.com.au
There is a special group for younger
members. Our website at
www.cmaa.org.au provides a number
of member facilities, including access to
the newsletters and links to the websites
of useful organisations in Australia
and overseas.
Ashley, 20 years, with Prader-Willi Syndrome.
Genetic Support Network of Victoria Winter 2014
15
CALENDAR OF EVENTS
IN BRIEF...
The GSNV presenting
at EMPAG
Rare Chromosome Disorders
awareness Week
Monday 2 – 8 June
Clinical Cardiovascular
Genetics Conference
Wednesday 6 – 8 August
Alopecia Areata Foundation Trivia night
Saturday 14 June
Chronic Illness Alliance Peer
Support Network Meeting 3
Thursday 21 August
The GSNV works closely with the University
of Melbourne Master of Genetic Counselling
program and Louisa Di Pietro, GSNV
Group Leader, regularly supervises Master
research dissertations of relevance to
community genetic support.
Bayley House Birthday Bash
Thursday 26 June
In 2014 two abstracts of projects cosupervised by the GSNV were successfully
accepted for the international EMPAG
(European Meeting on Psychosocial
Aspects of Genetics) conference – ‘“It’s a
very lonely path”: Exploring experiences
of establishing a genetic support group in
Victoria’ and ‘Population genetic carrier
screening for cystic fibrosis, fragile X
syndrome and spinal muscular atrophy:
exploring experiences of carriers identified
through the VCGS Reproductive Genetic
Carrier Screening program’.
Disorders of the Corpus
Callosum Conference
Friday 18 – 20 July
This highlights the level of international
interest in the genetic community support
sector in Victoria. On behalf of the GSNV,
Louisa will present an oral presentation
for the completed study, ‘“It’s a very lonely
path”: Exploring experiences of establishing
a genetic support group in Victoria’, at
the conference.
We hope Louisa’s attendance at this
conference will be not only an opportunity
for professional development in order to
improve genetic support services in Victoria,
but also opportunity to share the Victorian
experience of starting a genetic support
group as a model for other genetic support
services to consider.
Disclaimer
The GSNV works to support contact
between individuals and families to share
experiences. However, in individual cases
there may be differences in approach and
opinion. Although the GSNV strives to make
thoughtful and appropriate connections,
those placed in contact are alone responsible
for the views and opinions shared.
16
13th International Congress on
Neuromuscular Diseases
Saturday 5 – 10 July
Inaugural Conference on
Ehlers-Danlos Syndrome
Saturday 19 – 20 July
International Conference on
Prenatal Diagnosis and Therapy
Sunday 20 – 23 July
Illuminating... Rare cancers webinar
Wednesday 23 July
Fabry Support Group Australia
20th Anniversary
Saturday 26 July
National Huntington’s
ConferencePerth
Thursday 11 – 12 September
Williams Syndrome
Conference 2014
Thursday 18 – 21 September
SEEKING CONTACT
The GSNV strives to connect individuals
and families with others who have
shared similar experiences. If you would
like to make contact and share your
experiences, please either contact the
GSNV office by phoning (03) 8341 6315 or by
emailing [email protected]
ACKNOWLEDGEMENTS
The GSNV is proudly supported by a grant
made possible by the Department of Heath,
Victoria. The GSNV thanks the Murdoch
Children's Research Institute and the Victorian
Clinical Genetics Services for ongoing
collaboration and support of our work. The
GSNV thanks its financial members and
acknowledges the kind donations.
FEEDBACK
Bits and pieces survey results
Jan 2014 – Summary of Results
The bits and pieces survey from January
2014 was a success, with lots of replies and
great feedback. A large number of individuals
who took part in the survey were those who
were impacted by a genetic condition (approx
40%), GSNV support group members
(approx 45%) and others, which included
parents who have a child with a genetic
condition, a representative body, carers and
representatives of a disability organisation
(approx 30%). The vast majority found the
bits and pieces online newsletter extremely
–moderately useful and approximately 80%
Genetic Support Network of Victoria Winter 2014
used the GSNV bits and pieces newsletter
to keep up to date with events and research
within the genetic support sector. Feedback
was very positive with many individuals
highlighting that bits and pieces presented up
to date and relevant information on current
research and support within genetics.
Thank you to everyone who took the time to
participate in our survey.
“Bits and pieces is a easy read, always well
presented, and up to date information”.