- From the team
- Support group news
- In the media
- Conferences and seminars
- Seeking contact
- GSNV Calendar
From the team
Dear GSNV community,
As you know advocacy is a key platform of the GSNV in our efforts to ensure that all people can flourish.
We have a number of different ways that we engage in advocacy and I’d like to share with you some recent activity regarding launching our Lived Experience Advisory Group, our inaugural ‘’Supporting the Supporters’’ meeting, and the National Genomics Policy Framework consultation.
The GSNV Lived Experience Advisory Group
Our Lived Experience Advisory Group has been formed to ensure that the GSNV is always listening to those living with genetic conditions, and engaged with the challenges and opportunities that can be faced.
Our group will commence in April this year and I am really looking forward to introducing you to group members, and connecting you all with the discussion and learning generated by this group.
This group will strongly influence the advocacy agenda for GSNV in 2017, and will be lead by the wonderful Louisa Di Pietro.
Supporting the Supporters Network
We also recognise that it is critical to engage with the people and organisations supporting people with genetic conditions, and have recently established a ''Supporting the Supporters'' network group. It was terrific to get together with support groups to discuss common challenges, what works well, how we can work better and more effectively together, and where resources and knowledge can be shared.
We established a list of our greatest challenges and identified some ways to work on them together.
I would like to thank those support groups that attended our inaugural meeting for the honesty and positivity that was so evident at the meeting. I invite all support groups to join us at our next meeting. We’ll be advising the date very soon and it’s our intention to hold these meetings quarterly. I know that not everyone can get to meetings so we have people dialing in as well.
It is my intention to also meet our support group members and will be organising time to catch up with you personally over the year ahead. You’ll see these catch ups summarised and reported in Bits and Pieces, so we can keep sharing our knowledge.
THE NATIONAL HEALTH GENOMICS FRAMEWORK
On Monday 20th February, I attended the Melbourne consultation of the National Health Genomics Policy Framework
This session was very well attended by a diverse representation from the health sector, and people with an interest in the evolution of the health sector for Australians.
It was a highly interactive session, facilitated to maximize the expertise and experience of the attendees through a workshop format.
The consultation workshopped the framework through a series of questions explored by each table.
- What do you believe should be the key focus areas in the nominated Priority Areas?
- What is missing from the framework?
- What will it take to deliver it?
- What could possibly go wrong if we adopt this framework?
- What should be mandated to support the framework if we had the power to do so?
General feedback was also encouraged.
Feedback was sought and shared across the group, with each group reporting its response to the questions.
Question 1 - What do you believe should be the key focus areas in the nominated Priority Areas?
All groups acknowledged that all identified priority areas are important, however, commonly identified that the three most important areas are:
Question 2 - What is missing from the framework?
- Integration of genomic knowledge into person-centred healthcare, supported by equity of access to services
- Sustainable investment in health genomics
- A skilled and literate genomics workforce
It was generally agreed that the framework does not identify links with the international genomics environment strongly enough.
It was suggested that the framework should reference indigenous health explicitly.
Question 3 - What will it take to deliver it?
The following key areas were highlighted by all groups
Question 4 - What could possibly go wrong if we adopt this framework?
- Community involvement
- Ongoing commitment from a bi-partisan political approach over subsequent budget cycles
- Collaboration between states, private and public sectors, health services within states
- Strong links to international research and developments
The groups discussed the issues of discrimination and inequity as potential challenges.
The concern regarding the implications of changes in political leadership at the national level were also discussed.
It was identified that time and timing particularly in skill development was not necessarily aligned to the aspirations of the framework so this would need to be explored in more detail.
Question 5 - What should be mandated to support the framework if we had the power to do so?
Two very strong areas were nominated here. Responses included:
- Consumer consultation
The point was made that the language of the framework is essentially uninspired and flat. This was identified as problematic in captured the interest of politicians and the public.
All participants acknowledged the opportunity to be involved and to offer comments and feedback as positive and worthwhile
There are many ways that our collective voice can benefit each other and those we serve. You are always invited to engage with the GSNV, and let us know how we can be of service to you.
First quarter done and onto the next one – can you believe it?!...
Support group news
19th April 2017
GSNV Volunteer Orientation
10:30am – 12:00pm
Murdoch Childrens Research Institute, Flemington Road Parkville (Tram 55 or 59, Stop 19). Meet at MCRI Reception (smaller entrance to the right of the main Royal Children’s Hospital entrance on Flemington Road).
This will be an opportunity to hear more about the GSNV and the Volunteer Program, as well as learn about the role of a volunteer. We have a range of great guest speakers lined up, including representatives from Carers Victoria and the Master of Genetic Counselling course, to talk about the benefits of volunteering and how to get the most out of your experience. Morning tea will be provided.
10:30am Arrive at MCRI reception
10:40am Monica Ferrie - Welcome and introduction to the GSNV
10:50am Jan Hodgson - Master of Genetic Counselling course coordinator - Introduction to the course and how to apply
11:00am Jennifer Daddow - Carers Victoria – Self-care for carers
11:20am Abigail Elliott - Volunteering Victoria – Volunteer rights and responsibilities
11:30am Emily Webster - Very Special Kids – Experiences volunteering with VSK
11:40am Morning tea.
We look forward to seeing you there. Please RSVP (firstname.lastname@example.org
) by the 12th of April. Please also let us know if you have any dietary requirements.
27th & 28th April 2017
The team from Down Syndrome Victoria will be visiting families from Ballarat and surrounds on 27th & 28th April. The plan is, to meet for dinner at a local pub with families’ on the Thursday night (27th) then conduct some information workshops for families at Pinarc offices on Friday (during the day). Topics to be advised, but may include: Early Days Workshops (pre-school age), Navigating the school years, transition to secondary school etc. (please feel free to email
us to suggest topics). More info here
28th - 30th April 2017
HFV Community Family Camp - Anglesea
HFV invites all members to attend our 2017 HFV Community Camp (formerly known as The Family Camp). We hope you and your family can join us for all the fun and exciting activities and for the opportunity to connect with other HFV families. Find out more here
20th May 2017
AXYS (Australian X&Y Spectrum Support) AGM and information seminar - Melbourne
10am - 3pm, HELP Precinct, Royal Children's Hospital, Melbourne. Meet others, find out about latest information. Sessions for men and parents. Families and health professionals welcome. Key sessions will be made available for interstaters - please get in touch
20th June 2017
GSNV/Yooralla NDIS basics information session - Melbourne
A free one hour information session on the NDIS basics facilitated by Yooralla, held at the Royal Children's Hospital from 12noon - 1:30pm. Designed for the wider community interested in the NDIS to provide an overview of how it will work. Morning tea will be provided so please RSVP here
In the media
Researchers in Australia have designed a specialty shoe insole that may help people living with MS walk more easily
An Australian lead research team have designed a specialty shoe insole that may help multiple sclerosis (MS) patients walk and go about their daily lives with more assurance and ease. The insole is textured to stimulate receptors on the soles of the feet, and may improve gait. The researchers are currently looking for people with MS to test these insoles. Find out more here
Australian researchers find a gene involved agenesis of the corpus callosum (ACC)
A team lead by researchers at the Murdoch Childrens Research Institute, have discovered the first gene (DCC), when disrupted, leads to agenesis of the corpus callosum (ACC), which causes the loss of the bundle of nerve fibres connecting the brain’s two hemispheres. ACC can cause intellectual disability, autism and cerebral palsy, however, some people are unaffected or only mildly affected. Researchers found that mutations in DCC usually lead to the more milder symptoms. Currently when ACC is found by ultrasound, about 80% of the pregnancies are terminated. The new discovery offers parents the option of additional genetic tests that could reveal a relatively benign prognosis. Find out more here
Abortion and medical termination decriminalised in the Northern Territory
Last month, The Northern Territory government has voted to legalise the medical termination of pregnancy and passed law decriminalising abortion. Under the new legislation women in the Territory will now also have access to the abortion pill RU486. Prior laws in the NT stated that abortions were only allowed to be performed after a women was assessed by two medical practitioners, either an obstetrician or a gynaecologist. Only two hospitals in Darwin, and one in Alice Springs were equipped to carry out the procedure. Read more here
Victorian Clinical Genetics Services provides answers for 100 children and their families
VCGS is one of only a few pathology providers in Australia to receive accreditation from the National Association of Testing Authorities (NATA) for its whole exome sequencing service, known as “Clinical Exomes”. With this new test, patients and their families are now getting answers to serious and debilitating health concerns that were previously unsolved. Last month, VCGS celebrated a milestone of 100 Australian families who now have an answer for their child’s previously undiagnosed genetic disorder. "Some of the diagnoses made have meant a change in care which is a significant benefit for children and their families. In some children, ineffective treatments were stopped, while in others, we have been able to put in place early monitoring for related health complications.'' Read more here
20th - 21st April 2017
Melbourne Genomics Variant curation workshop
Registrations are now invited for a two-day instructive 'hands-on' workshop on germline variant curation. Places are strictly limited, and attendance is required for the entire two-day program. Register your interest here
21st - 23rd April 2017
The Chromosome 18 Registry & Research Society Conference - QLD
The Chromosome 18 Registry & Research Society Conference will be held 21st to 23rd April 2017 at the Novotel Twin Waters Resort, Mudjimba Beach QLD Australia. Guest speakers include Dr Jannine Cody, the founder of the Society and the Chromosome 18 Clinical Research Centre and Dr Dan Hale, Endocrinologist with the Clinical Research Centre. This will be an opportunity for families and individuals affected by a chromosome 18 disorder eg 18q-, 18p-, Ring 18, Tetrasomy 18, Trisomy 18, Pitt-Hopkins syndrome to network. Health and medical professionals are welcome to attend. For enquiries and registration information please email email@example.com
or +61.2.9580-5707 or +61.400809366
26th - 28th April 2017
GeneMappers 2017 Conference - Geelong
In the past, The GeneMappers Conference has focused on approaches for the genetic dissection of common human diseases. The next GeneMappers will expand this theme to include genomic analyses of host-pathogen relationships, and other organisms as it relates to human disease and clinically relevant traits. We will look towards the future: with mechanism of gene action and translation of genetic research themes of particular interest. More info here
6th - 7th May 2017
Connections 2017 - Melbourne
Save the date for the Disorders of the Corpus conference organised by AusDoCC.
22nd - 23rd June 2017
Volunteering Victoria 2017 State Conference - Melbourne
WHERE: Rydges Hotel, 186 Exhibition St, Melbourne VIC 3000
The inaugural Volunteering Victoria State Conference is expected to attract over 200 volunteering leaders over the two days in June 2017. With the goal to challenge, inspire and empower, the multi-streamed conference agenda will cover topics related to the theme – The Power of Association – and will be conducted with an emphasis on audience participation utilising a contemporary meeting format. Find out more here
26th - 29th August 2017
12th National Allied Health Conference - Sydney
The theme is “Allied Health: Stronger Together” and the event will provide a forum for all sectors of Allied Health to envision a truly integrated health care system that delivers seamless, holistic care. The conference will explore a range of topics of interest to the private sector, public health services, non-government organisations and health administrators. Delegates will consider the challenges posed by major health reforms such as the NDIS, the management of chronic disease, and the interface between acute and primary care. Find out more here
Newly updated First Trimester Screening Module
First trimester screening in general practice learning module
for health professionals, provided by the NSW Centre for Genetics Education.
Genetic Counselors and You Webinar Series
Sponsored by the National Society of Genetic Counselors (NSGC), the webinars
are presented by genetic counselors on a wide range of topics, such as Cardiovascular Disease, Direct-to-Consumer Genetic Testing, and Mental Illness and Genetics. Registration is Free for all guests.
is a patient portal, or registry, that is working to build the knowledge base about genetics and health that will allow researchers and doctors to study the impact of genetic variation on health conditions, which is key to the development of new treatments and therapies. A recently added new feature allows participants to connect with one another to find others with a similar diagnosis, age, gender or geography.
NDIS readiness for advocates
The NDIS is rolling out across Victoria giving thousands the opportunity to start new plans for the first time while investigating local support options. Catherine McAlpine, Manager Disability Loop at AFDO introduced a new ‘Tip Sheet’
for the planning process and provided some perspectives on the Local Area Coordinators and the Service Coordination roles at the NDIS.
11th - 13th April 2017
NDIS Understanding workshop - Warrnambool
The NDIS Understanding workshop series is for people with disability and their families. Funding received through the Victorian Government’s NDIS Transition Support Package means the workshops can be run free of charge across key regional areas in Victoria over the next few months. The NDIS is coming and this is a great opportunity to gain in depth understanding of how it works and, more importantly, how to make it work for you. The workshops consist of 6 half day sessions run over 3 days. Participants can register for all or some of the sessions. Click here
for session details and registration.
Provider/Organiser: Australian Federation of Disability Organisations (AFDO) Disability Loop
Cost: Free for people with disability
21st April 2017
NDIS: An advocate's guide - Melbourne
The aim of this forum is to explore current issues relating to advocacy and participation in the NDIS in particular, issues of access and participation aimed at ensuring that all persons eligible for the NDIS receive all their entitlements . Expert speakers across a diverse range of organisations will provide individual perspectives about the implementation of the NDIS to date and the challenges it faces in the future. The conference is aimed at advocates, both legal and non-legal, case workers, lawyers and anybody involved in providing effective advocacy and support within this arena.
More information here
27th April 2017
WEHI Day of Immunology discovery tour
Walter and Eliza Hall Institute (WEHI) of Medical Research discovery tours provide a unique opportunity for the community to get in contact with medical research.
- See state of the art facilities
- Learn about some exciting discoveries
- Meet scientists
- Hear how research is shaping future treatments
Tours are free and run for approximately 60 minutes.
Visits from schools, community groups, universities and individuals are welcome. Find out more here
18th May 2017
You Decide Who Decides - Understanding powers of attorney laws
A free presentation by the Office of the Public Advocate on Thursday 18 May 2017 at the Office of the Public Advocate, Level 1 Training room 204 Lygon Street Carlton (10.0 am - 12.00pm). Here
is the flyer with all the details and link for registration which is essential.
Genetic Information Needs of People Who Have Been Adopted: Adoptee Perspectives
We are currently conducting a research project looking into the experiences of people who have been adopted in relation to genetic information. This research project is being conducted as part of a minor thesis for the Masters of Genetic counselling by Tiffany O’Brien.
We would like to invite members of the public who have been adopted to participate in this study. Participation in this study will involve an interview which will take approximately one hour. In this interview we will be asking about the experiences and insights of people who have been adopted in relation to family health history information and genetics.
Through this research we hope to gain some understanding into what people who have been adopted know about their genetic information and what they would like to know. We hope that this research can be published and will help genetic health professionals assist people who have been adopted.
Participation is the study is completely voluntary. Interviews will be conducted at a time that is most convenient for participants. Interviews can be done face-to-face at the Royal Children Hospital or over the telephone at a pre-arranged time. The information that is collected will be used only for the purposes of the research project.
The responses will be de-identified and only the interviewer will have access to identifiable information. This information will be kept at the Genetic Support Network of Victoria (GSNV) for a period of 5 years from the last publication and will then be destroyed. The study has been approved by the Human Research Ethics committee of the University of Melbourne.
If you would like to participate in this study or would like further information, please contact the researchers by ph: (03) 8341 6315 (GSNV) or email: firstname.lastname@example.org
The researchers involved in this study are:
Keri Pereira (Prinicipal Researcher)
Genetic Support and Education Co-ordinator
Genetic Support Network of Victoria
Dr Jan Hodgson (Responsible Researcher)
Co-ordinator of Master of Genetic Counselling
University of Melbourne
Margaret Sahhar (Co-Researcher)
Victorian Clinical Genetics Services
Tiffany O’Brien (Student Researcher)
Master of Genetic Counselling Student
University of Melbourne
Discriminatory acts and young adults in public places
This research explores how young people with disability experience discrimination in public places. For the research, we would like to interview young people between the ages of 19 and 29 with different types of disabilities to better understand their lives, any discrimination they might experience and the effects of discrimination on their lives.
Interview participants will receive a $30 Coles Myer voucher in appreciation of their time and participant travel expenses to attend the interview will be reimbursed (or Cathy, the lead researcher, will travel to meet participants at their preferred location).
If you’re interested in participating in this study or have any queries, please contact:
T: (03) 90356670
T: (03) 83443091
This study has ethics approval from the University of Melbourne Human Research Ethics Committee (Ethics ID: 1545297.1). Information brochure
Speak Up and be Safe from Abuse Research
You are invited to participate in a research project. You need to be an adult with disabilities who have communication difficulties and:
- are under the age of 65 years
- are survivors of abuse/have experienced abuse
- live in Victoria
- receive funding for services from the Department of Health and Human Services (DHHS)
Support people, in an unpaid role (e.g. family and friends) who have supported people with communication difficulties as above are also welcome to be involved.
We will ask you to come to an interview. People with communication difficulties will also be asked to participate in focus groups to talk about the supports available to report abuse. A $50 gift card will be provided to reimburse you for any costs.
Please register your interest by 31 March 2017.
Contact Scope’s Communication and Inclusion Resource Centre:
T: (03) 9843 2000
Victorian Carer Statement Survey
Carers Victoria want to hear from carers and organisations that support someone with a disability, mental illness, chronic illness or an older person with care needs.
- What works best in existing services and supports?
- What could be improved and how?
- What service gaps are there?
Please click here
to find out more. Please note, when completing the online survey respondents have the option to complete information about two people they provide care for. Instructions are provided in the relevant section. If you are not able to complete the online survey but would still like to contribute, Carers Victoria welcome your comments by email: email@example.com
The GSNV is currently part of an advisory group for a study that we’d like your help with – for you and your family to complete but also to spread the word about it to anyone in Australia.
The study is looking at what people think about personal genomic testing – the types of DNA tests that are advertised and can be bought online for things such as ancestry, relationships, health and disease predisposition, nutrition and wellness, response to medications, sporting abilities and physical traits.
The research is funded through the Australian Research Council and involves a multidisciplinary team of researchers from a number of organisations and the study is called Genioz, Genomics: National Insight of Australians.
The survey takes about 20 minutes. We hope to get thousands of responses from members of the public, even if they don’t think they know much about genetics. We would love to hear from people who have had a genomic test or have not thought about having a test. The survey is a great way to explore your views on this topic.
The findings from the study will help us shape policy and information around personal genomic testing for members of the general public and health professionals.
What can you do to help?
(1) Please complete the online survey at www.genioz.net.au
(2) Share the study link with your friends, family and anyone else – use Twitter, Facebook, Linked in – anything!! Re-tweet our tweets, get the word out.
(3) Anyone who completes the survey can go into a competition to win a $300 gift voucher – so not only are you helping with research you could also be a lucky winner!
The GSNV works hard to connect individuals and families interested in sharing their experiences and insights with others. People interested in contacting others “in the same boat” can contact the GSNV to provide details and we will assist in making connections.
- 4q34 deletion
- Autosomal Dominant Osteopetrosis
- Beckwith-Wiedemann syndrome
- Cat Eye Syndrome/Schmid Fraccaro Syndrome
- Constitutional Mismatch Repair Deficiency (CMMRD)
- Disorders of the corpus callosum
- Ehlers-Danlos syndrome coexisting with Lynch syndrome
- Emery-Dreifuss muscular dystrophy
- GGCX gene mutation
- Hajdu Cheney syndrome
- Hay-Wells syndrome/ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome.
- Hereditary Spysiotosis with Iga Nephrophy
- Megalencephaly Capillary Malformation (MCAP) syndrome
- Milroy disease
- Mitchell's disease (Erythromelalgia)
- Moebius Syndrome
- Neutral lipid storage myopathy
- Pantothenate Kinase-associated Neurodegeneration
- Potocki-Schaffer syndrome
- Renpenning syndrome
- Succinic Semialdehyde Dehydrogenase Deficiency (SSADH)
- Wolfran syndrome
- Xp11.3-11.4 deletion
If you would like to make contact with others in the same boat and share your experiences with the above conditions, please either contact the GSNV office by emailing firstname.lastname@example.org
or phoning (03) 8341 6315.
For a listing of support groups in Victoria see the links page on the GSNV website: www.gsnv.org.au
to see the GSNV calendar of events.