Winter/Spring - Genetic Support Network Victoria

WINTER/SPRING 2013

Prenatal testing for genetic conditions Prenatal screening for Down syndrome has become part of routine prenatal care in Australia. The emphasis on detecting Down syndrome, rather than other chromosome or genetic abnormalities, arose because it is the most common cause of intellectual disability. It results from there being three copies of chromosome 21, instead of the usual two copies.

Genetic conditions can result from alterations to the number or structure of the chromosomes, or alterations to a specific gene. Down syndrome is an example of a chromosome abnormality; while cystic fibrosis is an example of a condition resulting from an alteration (mutation) to a specific gene (known as single gene conditions).

Although Down syndrome is only one of a large number of genetic conditions, most of the other conditions are very rare, with increased risks only pertaining to a small number of couples. When it is relevant, prenatal testing for other genetic conditions is available. Some are automatically included in available tests, whilst others need to be specifically requested by a doctor. If a couple receive a prenatal diagnosis for a genetic condition, their options are to use the information to prepare for the birth of a baby with the condition, or to terminate the pregnancy.

Parents may be concerned about the possibility that their baby could have a genetic condition for several reasons. Prior

to conception, they may be aware of the condition in blood relatives, have a child with a genetic condition, know they are a carrier for a genetic condition, or come from a population that is known to have higher risks for some genetic conditions. If prospective parents have concerns about genetic conditions, they need to discuss this with their doctor. Ideally, this should be discussed prior to pregnancy as parental preconception genetic testing results may indicate a low prenatal risk for the condition.

It also provides an opportunity for parents to discuss and reflect on how they will approach an offer of prenatal testing and what decision they may make if a condition was diagnosed. Sometimes, however, the risk of a genetic condition does not become apparent until after conception. Ultrasound screening during pregnancy can sometimes reveal abnormalities that are indicative of a genetic abnormality. When this occurs a number of different tests may be suggested.

The offer of prenatal testing for genetic conditions is to provide parents with reproductive choice. The decision to have any of these tests should always be an informed choice made by the prospective parents. An informed choice means that both advantages and disadvantages of the test are understood and that there has been time for the couple to deliberate on their decision in respect of their own values and circumstances.

GSNV Message from the Committee 2

Message from the team 3

UPDATE | NDIS/DisabilityCare 4

YOUR OPINION | NDIS/DisabilityCare 7

Research Research Study: Fragile X 8

Incidental findings in genetic testing 8

Genetic Support & Advocacy Your Say... Your Thoughts 9

Conferences & Resources Rural Victoria Resources 10

Reflective Report – HGSA 10

Services “What’s that Lab?” 11

Orphanet 11

HHT Registry 11

Senior Carers of Disabled Adults 11

Research Exploring the use of genetic services by rural clients in Victoria 12

Research Study: raising a child with an undiagnosed medical condition 13

National Focus Regional and Rural Genetics Services 14

New Carrier Screening Tool 16

BRCA gene testing 18

Chronic Illness Peer Support Forum 19

MCRI Step-a-thon for Kids 19

Genetic Support & Advocacy Peer support requests 20

Calendar of Events & In Brief 20

P (03) 8341 6315 | E [email protected]

www.gsnv.org.auGSNV South Building, Level 9, Murdoch Childrens Research InstituteRoyal Children's Hospital, Flemington Road, Parkville, VIC 3052

Cont. page 6

Committee of ManagementPresident Moira Rayner

Vice President Katarina Rodonic

Treasurer Margherita Coppolino

Secretary & Public Officer Charlotte Stockwell

Assistant Secretary Emma Swain

General Committee Members Christine WilliamsKay TimminsMaree KinniburghA/Prof David Amor

Committee Meeting Dates 2013Teleconferencing will be available at all meetings.

Thursday 19 SeptemberThursday 17 October (AGM)Thursday 21 NovemberThursday 19 December

The information in this Newsletter is provided by the Genetic Support Network of Victoria for educational/informational purposes only. It is not a substitute for professional medical care and medical advice. The contents express the opinions of the authors who alone are responsible for their views expressed. GSNV does not accept any legal responsibility for their contents.

Message from the Committee

Kay has been involved in setting up and running support groups for the past 19 years and ongoing. Kay became involved with the GSNV after her support group received some funding assistance from the GSNV, and she wanted to give something back to the organisation.

As a rehabilitation nurse who has worked in a regionally located hospital, Kay has experienced some of the issues common to healthcare in regional/rural areas, such as the issue of the large distances between services.

“[Our clinic] covered an area from Bacchus Marsh to the [NSW/Victoria] border and I was the only practitioner in the area,” she says, “It is hard to service such an area when the need is great... newly diagnosed clients find it hard to get treatment and the cost is expensive overall.”

Another issue is the fewer numbers of practitioners and specialists available in rural/regional areas. People often need to travel to access services, but Kay, like others, views this as part of living in a rural or regional area: “you do get used to travelling to access services as if they are

not close and if you can get benefits and some answers, you will travel.”

Particularly relevant for people with a genetic condition is that they are less likely to meet people in a similar situation in the same area. For Kay, she has found it lonely at times as there may be no one close by to speak to, however she has found that “being on a committee [means] you can pick up the phone or email your network of acquaintances that you have met over the years and [they] can often help with any issues that you may be dealing with”.

Through her involvement in various support groups and committees, Kay has learnt about advocacy, governance, rights and responsibilities of organisations as well as developing her network of contacts.

Kay would like to encourage other people who live in rural areas to try to get involved in committees and other things happening in their local area, as it can be beneficial for both them and to help others in the community.

Emma Swain, Genetic Support Assistant and Communications

GSNV

In keeping with our focus on rural and regional issues in this edition of our newsletter, Kay Timmins, General Committee member of the GSNV Committee, speaks to us about her experience of living in a rural area and being involved in the genetics support community.

Travelling 2-3 hours each way to attend a meeting these days is nothing for people living in rural areas. The advantages are that you get to know how some other organisations are run and are able to network along with meeting lots of interesting people along the way.

You learn how to advocate along with how the organisations conduct their meetings and how you can contribute to them.

You learn about governance, rights and responsibilities of the committee members, and can make comparisons with other committee you may be on. If you didn’t travel to meetings and network you would

be left in the dark about up to date policies and procedures etc.

Living in the rural area is often very lonely and isolating. Committee involvement gives you an opportunity to expand your connections and this is a great source of support and help with any issues that you may be dealing with.

People from rural areas are often reluctant to put their hand up to join a committee but you will never know if you don’t have a go.

Kay Timmins, General Committee Member

TRAVELLING FROM A RURAL AREA

2 Genetic Support Network of Victoria Winter/Spring 2013

Welcome to the Winter/Spring Edition of the GSNV Newsletter. We look forward to providing you with some interesting reading on support and advocacy in Victoria, research updates and services.

Message from the team

GSNV

Our cover story looks at recent developments in non-invasive prenatal testing, which as a new technology is becoming increasingly common. Fresh back from the 37th Human Genetics Society of Australasia Annual Scientific Meeting, the GSNV is excited to contribute to research projects presented at the conference and have input into professional outcomes in future meetings.

Please save the date for the2013 GSNV Annual General Meeting, October 17. Details yet to emerge, but the event will be held at Murdoch Childrens Research Institute. Please stand by for further updates on our AGM, and we hope to see you there.

In the coming weeks, the GSNV will release more details on our 2013 Small Grants Scheme. Small Grants are provided through income generated by the GSNV via our membership fees. The GSNV in 2012 did not call for membership fees due to a major overhaul and re-vamp of our membership schedule.

Once we have finalised changes to the GSNV membership schedule, we will be ready to offer Small Grants again this year. Please consider renewing your GSNV membership (and we will be in touch with all members in the coming weeks to do so) in order that we can provide financial support for as many projects as possible.

The GSNV sadly says goodbye to Emma Swain as a valued staff member, Emma has taken up a genetic counselling position at Westmead Hospital in Sydney. Emma will continue to stay on the GSNV board.

If you have something important you wish to express in relation to this newsletter, please email [email protected], marked “Letter to the Editor”.

The final newsletter for the GSNV for 2013 will be ready for the printer by mid November. Please forward your support group news and events by early November.

Louisa Di Pietro, Group Leader

The GSNV encourages our members and community to help us become more environmentally friendly and receive our newsletter in electronic version.

Please email [email protected] and request to receive future editions by email. We also encourage you to forward our newsletter to your own networks and if you receive a print copy of the newsletter, perhaps you could pass it on for others to read.

We are going Green!

We would like to remind you that the GSNV Annual General Meeting is coming up on Thursday 17 October. Please save this date as participation from GSNV members is very important to us.

Save the Date GSNV AGM

GSNV Volunteer Program has been launched This program is a unique opportunity for support groups to access suitable volunteers to assist them in a variety of small tasks, while also helping professionals-in-training to gain a depth of understanding and experience in working with support groups and the wider genetics community.

If you would like to be involved in our Volunteer Program either as a support group or as a volunteer, please refer to our website at www.gsnv.org.au/support-groups/volunteer-program.aspx

Genetic Support Network of Victoria Winter/Spring 2013 3

"One of the strengths of the

GSNV is its effective, empathetic,

collaborative approach, which is

often lacking in other medical/

health organisations.”

"I always find the [GSNV] newsletter has really important

bits of information or advice relevant to my situation. It’s

very user friendly and broadly informative.”

GSNV

The GSNV is excited that the Barwon region is a launch site in Victoria and we hope that the implementation of DisabilityCare Australia is a first step in helping to ensure that people living with genetic conditions are provided with the support and assistance they need to live their best life.

To date, all states and territories have now signed on to DisabilityCare, with the Western Australian State and Australian Federal Governments recently reaching an agreement to launch in Western Australia in July 2014. In this article, we have tried to answer some of the common questions around the implementation of this scheme.

What is the NDIS/DisabilityCare?The National Disability Insurance Scheme (NDIS), also known as DisabilityCare arose from an investigation by the Productivity Commission in disability system reform led by Prime Minister Kevin Rudd in 2009.

The Productivity Commission investigated the unmet needs of people with a disability and their families and carers across Australia, and analysed high-functioning support systems overseas. The GSNV made a formal submission to the Productivity Commission in 2010 on behalf of its members and community stakeholders.

In July 2011, the NDIS was recommended and was passed through Federal Parliament on 21 March 2013.

DisabilityCare was launched on 1 July 2013 and replaces all previous state and territory disability systems. It will cover 460,000 Australians (at any given time) with disability and their families, which is more than double the number that were previously covered.

All Australians will be covered by this scheme, which aims to fund long-term high quality care and support (excluding income replacement) for people with significant disabilities.

DisabilityCare is a person-centred support system that will empower Australians with a disability and their families to take control of their lives, achieve their goals and participate in social and economic life. It will focus on early intervention and the provision of appropriate aids, equipment, training and development that produce the best long term outcomes. It will provide assistance at the right time, rather than only once people reach crisis.

What will change under DisabilityCare?Australia’s previous disability support system was inequitable. It provided no certainty around future support and people received differing levels of support depending on how and when their disability was acquired.

The new system is entitlement-based and aims to help people choose what is best for them. Disability support is reframed under DisabilityCare, in that it is an investment and a driver of systemic and cultural change, which will shift the way we think about support for people with disability. People are provided with individualised packages that include the ability to choose their own service agencies. This means that people can employ the support workers they want or choose from pre-packaged supports from specialists and mainstream providers.

The new system will also provide access to and help from intermediaries who can assist people to make choices and handle

administrative tasks around their support package. Alternatively, people can opt to cash out their package and purchase their own supports.

DisabilityCare focuses on the provision of early interventions, especially if there is good evidence that it will significantly slow down or stop decline in function. It also takes the financial and management pressure off individuals and will hopefully help people avoid reaching crisis.

What won’t change under DisabilityCare?DisabilityCare as a system will not be responsible for the following:

• Diagnosisandclinicaltreatmentofhealth conditions

• Activitiesthataimtoimprovethehealthstatus of Australians (including GP services, dental care, nursing, etc)

• Time-limitedtherapiessuchasrehabilitation or post-acute care

• Palliativecare

UPDATE | NDIS/DisabilityCareThe GSNV welcomes the introduction of the National Disability Insurance Scheme, now re-named DisabilityCare Australia. Although we do not view genetic conditions as a disability, conditions with a genetic basis tend to be complex and chronic, and people and families living with genetic conditions may need some supports.


These services will remain under the current healthcare system through Medicare.

Furthermore, DisabilityCare does not replace the need for healthcare, income or life insurances. These policies are still very important for the majority of Australians in the event of temporary illness, surgery, loss of work due to injury and sudden or accidental death.

Who and what will be covered by DisabilityCare?The aim of the scheme is for all Australians to be covered, because disability can affect anyone at any time.

To date, all states and territories have signed up for the scheme. In order for a person to be eligible for support, they would need to have a permanent disability and meet one of the following conditions:

• Havesignificantlimitationsincommunication, mobility and self-care

• Haveanintellectualdisability• Haveaconditionforwhichearly

intervention would result in an improved level of functioning

• Beapersonforwhominterventionwould have significant benefits

The Productivity Commission have also suggested that people with a disability who do not meet the above criteria are to be provided with information and linkages to appropriate services and supports.

For those that apply but are unsuccessful, there is also an internal review and appeals process and the option to appeal to the Administrative Appeals Tribunal www.aat.gov.au/AboutTheAAT.htm

Supports that will not be funded include those that:

• arelikelytocauseharmtotheparticipant or pose a risk to others;

• areunrelatedtotheparticipant’sdisability;• duplicateothersupportsprovided

under alternative funding;• arepartoftheday-to-dayliving

expenses that are incurred by the general public (for example rent, groceries, household bills) and are not related to disability support needs; and

• arerelatedtoincomereplacement.

Will people with disability over the age of 65 be covered?

People who acquire a disability under the age of 65 will have the choice when they turn 65 to remain under the DisabilityCare system or instead transition into the aged care system. Moving into the aged care system will be of benefit to individuals who want/need to be cared for in an aged care facility.

People that acquire a disability after the age of 65 will not be able to access DisabilityCare but can instead access the aged care system.

Will carers be funded through DisabilityCare?

Individuals who are funded directly by DisabilityCare are able to allocate and spend money on services and supports that meet their needs. These plans may include arrangements to reimburse carers in some instances. Ultimately DisabilityCare will make decisions on what may be included in a plan.

What supports will be available through DisabilityCare?

• Aids,equipment,homeand vehicle modifications

• Personalcare• Supportforcommunityinclusion• Respite• Specialisthousingsupport• Domesticassistance• Transportassistance• Therapies• Guideandassistancedogs• Casemanagementandcoordination• Specialistemploymentservices• Crisis/emergencysupport

How will DisabilityCare impact on people with genetic conditions?There are some important ‘take home’ messages regarding the DisabilityCare program:

1. Eligibility depends on FUNCTION not on DIAGNOSIS

This point is quite crucial for those affected with undiagnosed genetic conditions or syndromes without a name. DisabilityCare eligibility is dependent on the following:

• Disability,ageandresidencyrequirements• Disabilitybeingpermanent

• Reducedleveloffunctionwithregards to self-care, communication, mobility or self-management OR if early intervention is cost effective and significantly improves outcomes

2. To be eligible for DisabilityCare, one must be UNDER the age of 65 years

As already stated, if you have access to DisabilityCare before the age of 65, then it is your choice once you reach 65 years of age as to whether you stay under DisabilityCare or move to the aged care system.

Most genetic conditions have an onset before the age of 65 years and so hopefully the age eligibility criteria for DisabilityCare will not affect many families impacted by genetic conditions. However, the healthcare system is already designed to look after individuals over 65 years of age who need assistance through the aged care system.

3. DisabilityCare DOES NOT replace the need for income, health or life insurances

DisabilityCare is a system set up to help empower individuals and families with disability take control of their lives. The system will not replace lost income, pay for surgeries or the loss of a loved one. It is therefore important that income, life and health insurances are still taken out by individuals and families affected by genetic conditions.

4. Are you eligible for DisabilityCare?

If you are unsure whether you or someone you care for is eligible for DisabilityCare you can use My Access Checker at www.disabilitycareaustralia.gov.au/my-access-checker to find out or you can call on 1800 800 110 or visit www.disabilitycareaustralia.gov.au/about-us/contact-us

See the GSNV website, www.gsnv.org.au/news/update-on-ndisdisabilitycare.aspx for a more comprehensive article including costing and further reading.

References

• www.adhc.nsw.gov.au/about_us/ strategies/national_disability_insurance_scheme

• www.disabilitycareaustralia. gov.au

GSNV


Cont. from page 1

COVER STORY Prenatal testing for genetic conditions

GSNV

There are two different types of tests for prenatal detection of Down syndrome and other chromosome abnormalities: screening tests and diagnostic tests. Screening tests are non-invasive and require a maternal blood sample. They identify pregnancies at increased risk of Down syndrome.

In Victoria, most pregnant women are offered a screening test in their first trimester which combines the biochemistry results from a 10 week blood sample with measurements from a 12 week ultrasound scan. This test also indicates if there is an increased risk for another chromosome condition, called Edward syndrome, where there are three copies of chromosome 18.

Sometimes the results from this test may indicate the possibility of other chromosome abnormalities, but a specific risk figure cannot be provided. The results from the first trimester combined screening test do not give any indication about non-chromosomal genetic conditions such as cystic fibrosis or muscular dystrophy.

Diagnostic tests for Down syndrome and other chromosome abnormalities have

traditionally required one of two invasive procedures to obtain the fetal material for testing.

The first procedure is called chorionic villous sampling. This can be done between 12 and 14 weeks gestation. Under ultrasound guidance a small sample of the placenta is removed.

The second type of procedure, amniocentesis, is done from 15 weeks gestation. A small volume (approximately 15mls) of amniotic fluid, also under ultrasound guidance, is removed for testing. Both of these invasive procedures have an associated miscarriage risk of 0.5-1.0%.

This associated risk deters some couples from proceeding with diagnostic testing.

The traditional diagnostic test performed on the fetal specimen is called a karyotype. This test involves visually checking the structure and number of chromosomes present with a microscope. To provide a karyotype result, there is a requirement for the fetal cells from the amniotic fluid or chorionic villus sample to be actively

dividing. This is achieved by growing the fetal cells in a petri dish in the laboratory. The karyotype provides information about changes to all 23 pairs of chromosomes, not just to chromosomes 21 and 18. This is a test that looks across the whole genome for abnormalities.

An alternative to karyotyping is now being offered to some women. The test, called a chromosomal microarray (CMA), involves analysis of the underlying DNA rather than visual analysis of chromosomes, providing detection of an increased number of chromosome abnormalities compared with traditional microscope karyotyping. It is becoming routine practice to suggest a CMA, instead of a karyotype, when there are abnormal ultrasound findings.

Karyotyping and CMA are both genome wide tests. Alterations that are detected by either of these tests usually reflect a well described genetic condition or are known to not cause any problems. However, results may also indicate an unknown or an uncertain outcome for the baby. Although CMA is more likely to detect a known genetic condition than karyotyping, it is also more likely to detect an alteration where the outcome for the baby is unknown or uncertain. These different aspects need to be considered when choosing whether to have a diagnostic test and/or which diagnostic test to have.

A karyotype or CMA, however, cannot diagnose single gene conditions. Diagnosis of these types of genetic alterations requires a test that can detect alterations at the molecular level of the gene. These tests have traditionally involved only testing the specific gene that is of concern. Results therefore only pertain to that particular gene. Fetal DNA is required for these tests and traditionally this has been obtained from a chorionic villus sample or amniotic fluid cells that have been grown in the laboratory. To have prenatal diagnosis for

This article provides a brief overview of the tests that have been traditionally offered and compares them with new tests being introduced and the possibilities of future tests.


GSNVYOUR OPINIONNDIS/DISABILITYCAREAnonymous, living with cerebral palsy, had these comments about the introduction of the NDIS, re-branded as DisabilityCare Australia.

Having cerebral palsy which effects my mobility, walking and balance, I’ve been both successful and unsuccessful in applying for and obtaining equipment from various previous programs such as PADP (Program of Appliances for Disabled People) in the past and more recently, A&EP (Victorian Aids and Equipment Program).

As such, my initial impression of the NDIS/DisabilityCare Australia is that of a much-needed change in approach. It appears far more universal in intended implementation – in as much as if you have a disability, regardless of how it was acquired, it will cover your aids and equipment needs.

This differs markedly from past programs where the experience and outcome were far less certain.

Whether it was a mobility scooter, orthotics or other assistive apparatus, success or otherwise was very much at the mercy of the budgetary status at the time of the programs in question; if your application was assessed at a ‘good’ budgetary time, you were successful, if your application was assessed at a time of budgetary pressure, you invariably saw delays, uncertainty and the need for extraneous justification. This then led to many feeling the need to constantly highlight their ‘entitlement’ which is disheartening and the cause of unnecessary upset and stress.

Whilst I’m happy to see many NDIS/DisabilityCare advocates express their support on blogs and Twitter, (which have been instrumental in explaining and garnering further understanding and support for the program) some wariness remains in the fact that this is a government program and as such, the proof will be in the implementation, even without the spectre of a potential change in government and/or bureaucratic red tape impeding the best of intentions.

a single gene condition therefore also requires an invasive procedure with an associated miscarriage risk of 0.5-1.0%.

The most recent test introduced into prenatal testing is being called ‘non-invasive prenatal testing’ (NIPT) or ‘non-invasive prenatal screening’ (NIPS). These new tests are not diagnostic, but they are vastly improved screening tests. They are based on the discovery of short pieces of fetal DNA found circulating in maternal blood.

Using a maternal blood sample, in addition to providing screening for Down syndrome and Edward syndrome, they currently include detection of a few other chromosome abnormalities. Depending on the test, this may include Patau syndrome (three copies of chromosome 13), and abnormalities of the sex chromosomes (X and Y chromosomes).

The test provides a much more accurate risk profile, but as there is a possibility of both false positive (receiving a positive result when the baby does not have Down syndrome) and false negative results (receiving a negative result when the baby has Down syndrome), it remains a screening test with an invasive diagnostic test required for confirmation.

Professional guidelines are recommending that NIPT/NIPS is only offered to women who have an increased risk result from Down syndrome screening tests. There are four different commercial tests currently available in Victoria and at present the blood samples are being sent to the USA or Asia for testing.

Non-invasive prenatal testing for single gene disorders, using fetal DNA in maternal blood, may however be diagnostic. At present there are only a very small number of single gene conditions that have been developed using the fetal DNA in maternal serum, but this is an exciting development for families with a history of a specific single gene condition who want to have prenatal testing. It will allow for a diagnostic test that can be performed early in pregnancy that does not require an invasive procedure.

The technology being used to develop this non-invasive testing involves

sequencing the DNA of a specific gene or the entire genome.

Ultimately, it is being suggested by researchers and health professionals that it will be possible to provide a fetal whole genome sequence during the first trimester of a pregnancy, without putting the pregnancy at risk of miscarriage. This testing will detect even more abnormalities than CMA, increasing the diagnosis of known conditions as well as results with uncertain or unknown clinical outcomes.

In addition, whole genome sequencing introduces the possibility of diagnosing adult onset conditions. There are clearly many ethical considerations that need to be discussed amongst all stakeholders before this level of testing is implemented. Some of these issues are addressed in an article in the European Journal of Human Genetics (Deans, Z et al. European Journal of Human Genetics (2103) 21, 713 -718).

As prenatal testing becomes more sophisticated, less invasive, and available to more women, the more urgent is the need to ensure that all couples receive appropriate pre and post-test genetic counselling. If possible, potential parents should start a conversation about prenatal testing with their doctor (GP or obstetrician) prior to conceiving. This will enable plenty of time to reflect in advance on difficult decisions that may need to be made during pregnancy.

For further reading, please refer to the following VCGS NIPT link www.vcgs.org.au/clinical/sections/Patients/?docid=58f52357-90d9-4c4c-9c73-531821c83b8b


Incidental findings in genetic testingAs demonstrated in the article on prenatal testing in this newsletter, there are different types of genetic tests. Some are specific for a particular condition and only investigate the relevant part of the genome.This is the traditional approach to diagnosing single gene conditions. Other genetic tests include the whole genome. New sequencing technologies can be used for both situations depending on how the test is designed. As this technology becomes cheaper it is likely that it will be more cost effective for all genetic testing to cover the whole genome.

One possible disadvantage of this approach is the potential for conditions, other than the one under investigation, to be diagnosed. These are called incidental findings. There are various approaches to limiting the results from whole genome sequencing; including maintaining the current approach of only testing the specific gene or genes of interest, only analysing the data relevant to the specific gene or genes, and only reporting results that patients have consented to receive. However, it is also likely that some patients may consider the potential for this additional information to be an advantage of testing.

There has been much debate in the professional genetics community about this ensuing problem. Opinions vary between professional groups and from country to country. Scientists in the laboratory and health professionals working in genetics clinics are concerned about both the practical and ethical implications around this issue.

The American College of Medical Genetics (ACMG) is the first professional group to release recommendations for reporting incidental findings. This has been most welcome, and although they have controversially recommended that mutations in at least 57 specified genes

(for 24 hereditary conditions) should be reported regardless of the initial reason for the test request, it provides a base line for other professional groups to initiate discussion. Their recommendations only apply to genomic tests performed after birth for a clinical indication. The ethics around giving incidental findings in a prenatal setting are even more vexed.

The peak professional body for clinical genetics in Australia is the Human Genetics Society of Australasia. They have published a commentary on the American College of Medical Genetics guidelines. It can be found here: www.hgsa.org.au/hgsanews/hgsa-commentary-on-acmg-recommendations.

This topic will be followed up in a future newsletter in more detail.

If anyone is interested to read the recommendations from the American College of Medical Genetics they can be found here: www.acmg.net/docs/ACMG_Releases_Highly-Anticipated_Recommendations_on_Incidental_Findings_in_Clinical_Exome_and_Genome_Sequencing.pdf

RESEARCH

RESEARCH STUDY Fragile XMurdoch Childrens Research Institute (MCRI), The Free FX Study – Aiming to improve outcomes for children and their families through earlier diagnosis.This will be a longitudinal study, led by A. Prof David Amor and Dr David Godler, and will follow 140 families affected by Fragile X, and aims to help increase the accuracy of testing and determine how early testing can be offered to children. This research was recently profiled in the Herald Sun on August 14.

Victorian families affected by Fragile X and who would like to be involved in the study or find out more information are asked to contact Justine Elliott at MCRI via email: [email protected].

There is also a fact sheet available on the GSNV website: www.gsnv.org.au/research.aspx


SWAN (Syndromes Without A Name) Australia founding President Heather Renton describes her experience when concerns were initially raised about her daughter’s development.

Your Say…

I will never forget the stinging words of the paediatrician who told me that my daughter Becky had “global developmental delay”.

At a routine 8 months appointment (as Becky had hypotonia and a semi closed left eye), a paediatrician we had not met before examined Becky and proceeded to tell me that “I would go away very sad because my child had global developmental delay. That means Becky is behind in every area of her development and she should be booked in for a head ultrasound and MRI as soon as possible because she may be having seizures every few minutes”. At this point I burst into tears and promptly left the room.

The next day, I phoned the paediatrician to say I was not coping too well with the situation and asked her if she could please recommend a counsellor or someone I could talk to.

I was told “You will be fine once your child gets accepted into Early Childhood Intervention Services. If you want some assistance earlier you can go to your GP and ask them for a referral to someone”. I never went back to that paediatrician.

Over and over I hear that others have had similar experiences, and I wonder if some doctors realise the lasting impact they have on parents. Becky is almost seven, and I can still remember that day as clear as yesterday. And I hate to think of how many tears I have shed and antidepressants I have taken since then.

Should I have gone back to the paediatrician and told her I was appalled with her conduct? A stronger me would have, but I was emotionally fragile at that point in time. I wonder if she gave us another thought? Did she realise the anxiety I experienced while I waited over a week for her to organise a referral for Becky to have a head ultrasound? Probably not.

I am not saying all doctors are inconsiderate and not empathetic. The majority have their heart in the right place. It can’t be an easy task, shattering parent’s dreams and delivering bad news but I do believe there are gentler ways to burst the bubble.

From parent’s point of view, health professionals could consider offering some of the following supports to parents/carers when delivering the news that they have concerns about the child’s development:

• Offeralistofcounsellorsand/or social workers

• Offeralistofsupportgroups(canbegiven at the time or shortly after)

• Continualfollowupandcareforthewhole family, needs to be genuine and is important.

• Completeanapplicationforearlychildhood intervention services as soon as possible. If a concern regarding development is raised, but there is no clinical diagnosis, applications for early intervention can be withdrawn at a later date.

• Tryandreadyourparent’s/carer’sneedsand remember some people are better at hiding their emotional state than others,

just because they appear to be coping in your office, doesn’t mean they are.

• Explainthetestsyouwouldliketoconduct and let parents know the expected wait times for test results. Then think carefully about how you will deliver the news.

And advice for parents:

• Judgeyourinstincts,youareyourchild’s expert

• Takesomeonewithyoutoyournextappointment, as you don’t always hear everything that is being said when your world has been rocked.

• Nevergiveupongivingyourchildtheopportunities to reach their full potential.

• Yourchildwilltelltheirownstory,itjustprobably isn’t the one you imagined.

If you care for a child who does not have a diagnosis or you know someone who does, please visit Syndromes Without A Name (Australia) website: www.swanaus.com.au. Membership is free for all SWAN parents and carers.

For more information for families without a confirmed syndrome diagnosis or a rare condition for which no other support group exists, please refer to SWAN’s brochure, available at www.swanaus.com.au/index.php/information/swan-brochure

Heather Renton, SWAN Australia President

GENETIC SUPPORT & ADVOCACY

Breaking bad news: Your child has global developmental delay

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.

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Syndromes Without A Name (SWAN) Australia ABN: 60 997 297 388 Tel: 0404 280 441 Email: [email protected] Website: www.swanaus.com.au

Many thanks to the following people for their professional guidance in producing this brochure: - Doctor Sue White – Clinical Geneticist & Dysmorphologist - Louisa Di Pietro – Group Leader GSNV - Lynley Donoghue – Genetic Support Coordinator GSNV

This brochure was produce by: Syndromes Without A Name (SWAN) Australia Tel: 0404 280 441 Email: [email protected] Website: www.swanaus.com.au

This brochure is endorsed by Genetic Support Network Victoria

Your Thoughts


The programme for the meeting this year included current advances in gene technology and genetic research, and an array of Special Interest Group (SIG) sessions.

GSNV representatives at the conference were particularly interested in the Australasian Society of Genetic Counsellors (ASGC) SIG sessions and the presentation of interesting cases from genetic counsellors.

The GSNV has been directly involved in three research projects presented at HGSA this year:

• Parental experiences of living without a diagnosis for children with unexplained syndromes (Oral presentation, won ASGC award for best presentation) Justine Elliot, Alison Archibald, Louisa Di Pietro, Susan White.

• Exploring experiences of establishing a genetic support group in Victoria (Poster presentation) Emma Swain, Margaret Sahhar, Dr Laura Forrest, Louisa Di Pietro.

• Exploring experiences of the Victorian Clinical Genetic Services Reproductive Genetic Carrier Screening Program (3 minute thesis presentation) Catherine Beard, David Amor, Alison Archibald, Louisa Di Pietro.

The GSNV was also directly involved in the 4th Australia-New Zealand Roundtable on Genomics as the GSNV sits on the Ethics and Social Issues Committee (ESIC)*.

This year’s Roundtable focused on Ethical. Legal and Social aspects of next-generation methodologies, with particular reference to prenatal testing, general issues about managing incidental findings and current issues in research involving Maori.

Given that the conference is broken up into SIGs, the programme covers genetic advances, research translation, ethical issues, genetic counselling practice and the assessment/improvement of professional standards of all Society members.

In recognition of the contribution that the GSNV makes to research and consumer participation, future HGSA Scientific Meetings are on the GSNV radar.

The HGSA Annual Scientific Meeting is always a highlight for the GSNV and provides an incredible learning environment for all staff involved.

* The Ethics and Social Issues Committee (ESIC) of the Human Genetics Society of Australasia is a key committee and is responsible for offering expert opinion to Council and Executive. ESIC develops and reviews HGSA policy and position statements on a wide range of ethical issues.

Reflective Report – HGSA 4 – 7 August, 2013, QueenstownThe 37th Human Genetics Society of Australasia (HGSA) Annual Scientific Meeting was once again an important professional development exercise for the GSNV team. The HGSA represents the most important professional conference for genetics professionals in Australasia.

CONFERENCES & RESOURCESRURAL VICTORIA

RESOURCES

Genetic ServicesFor those members living in a rural and regional area in Victoria, there are a number of general genetics and cancer genetics services that run clinics in regional centres around the state. These services enable people to be seen a bit closer to home if they wish.

For a comprehensive list of the clinical genetic services that operate in Victoria, please refer to the GSNV website www.gsnv.org.au/individuals-and-families/clinical-genetics-services.aspx

Travelling for health careDid you know the Victorian Patient Travel Assistance Scheme (VPTAS) can assist rural Victorians with costs incurred from travelling over 100km for health care?

Did you know that you can speak to a social worker when making an appointment at the major Melbourne hospitals who can assist you with planning your journey?

As part of the Victorian Department of Health’s ‘consumer, carer and community participation’ initiative, the Department has put together some useful information for rural Victorians who need to travel for health care.

The website www.health.vic.gov.au/ consumer/rural_consumers.htm, includes checklists for different stages of your health care journey so you don’t forget to ask any important questions, a contact list of people who can help you prepare your journey, and a comprehensive resource kit for rural consumers who travel for health care.


The Maternal Serum Screening laboratory launched its service in 1996. As a part of the Victorian Clinical Genetics Services, it provides population screening for chromosomal abnormalities to all pregnant women in Victoria.

Maternal Serum Screening is a test performed in the first or second trimester to determine whether a pregnant woman’s baby has an increased risk of having Down syndrome (a chromosomal abnormality affecting 1 in 500 pregnancies), Edward syndrome and open Neural Tube defects. First Trimester Screening combines results from a blood test with a nuchal translucency and nasal bone obstetric scan during the first trimester of pregnancy. Second Trimester Screening requires only a blood test. In 2012, 61,000 women were screened. Currently, 80% of pregnant women have the Maternal Serum Screening test in Victoria.

This test is offered to all pregnant women and there are no contraindications or precautions indicated for the test. In First Trimester Screening, a non-fasting blood test should be organised at the woman’s tenth week of pregnancy along with her routine antenatal tests and an obstetric ultrasound should be organised at the woman’s twelfth week. For Second Trimester Screening, the blood test is required between 14 weeks to 20 weeks and 6 days.

The result of this test is issued as a pregnancy specific risk factor. The risk factor takes into account the woman’s age, weight, pregnancy gestation, serum markers and the ultrasound scan markers. The risk cut-off for Down syndrome is 1 in 300. Risk values which are equal to or greater than this are classified as increased risk and further diagnostic testing is recommended. Risk values less than 1 in 300 are considered decreased risk and no further testing is required.

“What’s that Lab?” OrphanetOrphanet is an online reference portal designed to provide information on rare diseases and orphan drugs.

The site is designed for both consumers and health and medical professionals. Orphanet comprises a consortium of 40 countries including Australia and is coordinated by the French INSERM (the French National Institute of Health and Medical Research) team.

The aim of Orphanet is to assist in the improvement of diagnosis, care and treatment of patients with rare diseases. To that end, the Orphanet portal provides a range of services that are freely accessible, including an inventory of rare diseases and orphan drugs, a directory of expert resources, assistance to diagnosis tool and regular newsletter.

Orphanet can be a useful resource for families who are looking for more information about their rare condition. Orphanet can be accessed through their website www.orpha.net/consor/cgi-bin/index.php

An exciting new development for people with Hereditary Hemorrhagic Telangiectasia (HHT)The Hereditary Haemorrhagic Telangiectasia (HHT) Registry

Senior Carers of Disabled Adults For families in the Ballarat region, the Senior Carers of Disabled Adults (SCODA) support group supports parents and carers of adults with disabilities.

On the first Friday of the month, Senior Carers of Disabled Adults (SCODA) members get together for dinner in Ballarat. Members are parents and carers of adults with disabilities and use this time to socialise and support one another in a relaxed setting. The group welcomes new members and more information can be obtained by calling Melissa on 5329 1361.

Our new regular segment, “What’s that Lab?” aims to inform our members about the laboratory services of the Victorian Clinical Genetics Service. In this newsletter, Leonard Bonacquisto, Head of the Maternal Serum Screening Laboratory tells us about the lab’s role.

After the tragic loss of their son and brother, Matthew, the Violante family established Matty’s Soldiers with the sole purpose of increasing awareness about HHT as well as raising money to contribute to HHT research.

Thanks to the generosity of a significant financial contribution from Matty’s Soldiers, the Department of Genetics at The Royal Melbourne Hospital have developed Australia’s first HHT registry.

The registry aims to collect information from people who have been diagnosed with HHT to determine the needs of this population. This will then provide the

foundation for future research with the hope of attracting clinical trials for the treatment and management of HHT symptoms. This registry was officially launched at the HHT Awareness and Seminar Series Day on 8 September 2013 at The Royal Melbourne Hospital.

If you would like more information about the registry or the information day, please contact Alisha McLauchlan on (03) 9342 7151 or at [email protected].

For more information on Matty’s Soldiers, please look them up on Facebook.

SERVICES


Alisha McLauchlan is an Associate Genetic Counsellor – Research Assistant for the HHT Registry, Department of Genetics, The Royal Melbourne Hospital and Intake Assistant at the Familial Cancer Centre at The Royal Melbourne Hospital. Alisha completed this research as part of her Master of Genetic Counselling in 2012. She was supervised by Jane Wallace, Sylvia Metcalfe, Mary Anne Young, Alice Weeks and Belinda McClaren.

Genetic Service ProvisionAccess to genetics services can be a problem for those who live in rural/regional parts of Victoria. Few studies have investigated the needs and requirements of rural/regional communities in relation to genetic health services in Australia.

Only 30% of rural/regional Australians seek a consultation with a clinical genetics service compared to 50% in metropolitan cities, indicating the current genetic services may not be meeting the needs of rural communities.

Currently in Victoria, genetic services are provided as part of the public health system by several metropolitan services based in Melbourne hospitals. Genetic services are located at The Royal Children’s Hospital, The Royal Melbourne Hospital, The Austin Hospital, The Peter MacCallum Cancer Centre and at Monash Medical Centre.

There are two main streams of genetic services in Victoria: those that provide clinics for general genetics, and the Familial Cancer Centres (FCC), which provide services for families with hereditary cancer syndromes.

Currently there are two models of service provision in Victoria: Firstly, the majority of rural/regional clients are seen in regional hospitals by genetics professionals who travel from a metropolitan hospital. Additionally, there are two clinics based in regional Victoria: one in Bendigo for the Peter MacCallum Cancer Centre with a part time on-site genetic nurse and another in Albury/Wodonga for the Victorian Clinical Genetics Service that employs a part time on-site genetic counsellor.

What was this research about?This study aimed to gain insight into the issues that rural/regional clients face when accessing genetic services by exploring their views about rural/regional genetic services in Victoria. The findings will provide a foundation for additional research that could lead to improvements to genetic service provision and consequently better meet the needs of rural/regional clients. The key research aims included:

• Understandinghowrural/regionalclientsaccess genetic services;

• Exploringanybarrierstoaccessinggenetic services;

• Determiningifgeneticservicesasawhole are meeting the needs of rural/regional clients.

What did the research find?Participants perceived there were a number of challenges relating to access and awareness of rural/regional genetic services in Victoria. However, despite some of the challenges expressed by participants, there was a consensus towards a high level of overall satisfaction with genetic services in rural/regional Victoria with particular praise for the genetic service staff.

The first finding relates to the research participant’s lack of understanding about what genetic services provide. Participants were not initially aware of genetic services and when they were referred, were unsure about what to expect from an appointment. As participants were unsure about what to expect, expectations varied from assuming they would be given definitive answers to thinking they would be medically examined.

Additionally participants reported being surprised that there was the option to be seen at a clinic in their local area as it was assumed that genetic services would only be provided in metropolitan locations.

Secondly, participants identified a number of barriers, which prevented rural/regional communities from accessing genetic clinics. These included:

• Travellingtoattendappointments;• Costsassociatedwithattending

an appointment;• Notenoughsupportfromtheservice

pre and post their appointment;• Theperceivedwaitingliststoattend

an outreach clinic;• Thatmostgenetictestswerenot

funded by Medicare;• Thelackofawarenessofgeneticservices;• Influencefromfamilymembers;• Takingtimeoffworktotravelto

an appointment.

Participants noted that the barriers to attending genetic services were not unique. Individuals living in rural/regional areas experience similar barriers in accessing all healthcare services. Participants linked the barriers to accessing genetic services to other service provision issues such as the lack of obstetric options, the inability of rural/regional communities to maintain permanent GP’s as well as access to psychiatric services.

The third finding related to attitudes that participants had towards rural/regional health. Many participants expressed a feeling of resignation in regards to limited access to health care services compared to metropolitan locations. Participants noted, “that’s just the way it is” suggesting that this was a consequence of living in the country.

‘That’s just the way it is’: Exploring the use of genetic services by rural and regional clients in Victoria

RESEARCH


Participants also reported that they believed that health care was “better” in metropolitan cities, including Melbourne, and would often choose to travel rather than be treated locally.

What are the conclusions from this study?• Themajorityofparticipantsassumed

they would need to travel to a metropolitan location to access genetics and were surprised that there was a more local, regional option.

• Participantsdescribedthebarrierstoaccessing genetic services with travel being the most significant of these.

• Additionally,awarenessoftheservicewas also considered a barrier, as participants were unaware that such a service was even available.

• Participantsdidnotthinkwaiting times and costs were significant barriers and were satisfied with these aspects of the service.

• Themajorityofparticipantsreportedthat their experience with genetic services in a regional location was very satisfying that they had a high regard for the genetics staff as well as for the process of genetic counselling.

• Thisstudyalsoascertainedthattheparticipants were of the opinion that health care options and care were better in metropolitan locations and felt that this was “just the way it is” for them and their communities.

• Overallthisstudyprovidesaninitialreference point for understanding how rural/regional clients access and use

genetic services in Victoria, supplementing the existing knowledge about accessing rural/regional health care services.

What are the implications for practice?Most participants were satisfied with their experience of genetic services in rural/regional Victoria. Access to genetic services was perceived as more difficult for rural/regional clients. The major issue identified through this study was travelling and associated costs.

Service providers could address these issues by modifying the current model of service provision that genetic services currently utilise.

Modifications could include, incorporating Telehealth, employing locally based genetic professionals (either local genetic counsellors or genetic nurses), and increasing the awareness of genetic services within the local community through further education.

A combination of these modifications has been shown to be successful for other Australian genetic services, for example in NSW and Queensland, which provide local genetic health professionals, as well as Telehealth. As these models have been studied and reported to be successful, rural/regional clients in Victoria may benefit from similar initiatives in the provision of genetic services.

Whilst this study has implications for service provision and genetic health professionals, additional research will be required to explore these issues in greater detail.

RESEARCH STUDYLiving with uncertainty: the role of hope, social support and illness cognition in raising a child with an undiagnosed medical condition.

Griffith University, School of Biomolecular and Physical Sciences, Master of Science (with honours in Genetic Counselling) research project

This project focuses on understanding the experience of individuals raising children with undiagnosed medical conditions, particularly focusing on the relationship between social support, illness cognition and uncertainty.

To participate in this study, all you need to do is complete an anonymous online survey which will take approximately 30 minutes.

For more information about this project, please refer to the Participant Information Sheet, which is available online at the following link: https://prodsurvey.rcs.griffith.edu.au/undiagnosed

Living with uncertainty: the role of hope, social support and illness cognition in

raising a child with an undiagnosed medical condition PARTICIPANT INFORMATION SHEET Senior Investigator Griffith University Principal Supervisor: Linda Humphreys: Griffith University, Associate Lecturer Ph: 07 3735 7430 Email: [email protected]

Genetic Counselling Research Supervisor Aideen Mclnerney-Leo Genetic Counsellor Diamantina Institute, University of Queensland

Student Investigator Tatiane Yanes: Griffith University

Why is the research being conducted? This study has been designed to explore the unique experience of individuals raising children

with undiagnosed medical conditions. The study aims to investigate the relationship between

social support, illness cognition and uncertainty. This study will be conducted by a Griffith

University student (Master of Science with honours in Genetic Counselling) and under the

supervision of Griffith University research staff What you will be asked to do? Participants will be invited to complete an anonymous online survey which should take

approximately 30 minutes to complete. The survey will be available via the Lime Survey website

and will cover topics such as helpfulness of support groups, relationships and other factors

which may have influenced their experience caring for a child with an undiagnosed medical

condition. Selection of participants Individuals who meet the following criteria are invited to participate: over the age of 18, and the

parent (biological or adoptive) of a person with an undiagnosed medical condition in which the

underlying cause or diagnosis has remained unknown for more than two years.

The expected benefits of the research Your responses will help our research team to understand the unmet needs of people raising

children with medical problems and no diagnosis, with the goal of improving coping resources

and support available to them. Furthermore, we may compare the data in our group to the

results from researchers in a different country to see whether some countries are better than

others at addressing these needs. As the data you provide will be anonymous there will be no

risk that this group will know your identity.

School of Biomolecular and Physical Sciences Nathan Campus, Griffith University 170 Kessels Road Nathan, Queensland 4111

Telephone +61 (0)7 3735 7357 Facsimile +61 (0)7 3735 7773 www.griffith.edu.au

RESEARCH


About Regional and Rural Genetics ServicesJane Wallace, Head of the Regional Service at Victorian Clinical Genetics Services tells us about the regional outreach clinics she manages and discusses some of the issues around genetics services in regional/rural areas.

What regional areas are covered by the Regional Service? Clinics are held in Ballarat, Bendigo, Geelong, Mildura, Sale, Shepparton, Traralgon, Warragul, Warrnambool and Wodonga.

How are people referred to the clinic? It varies. Commonly children will be referred by their paediatrician. GP referral occurs frequently as well as other specialist referrals, for example cardiologists, endocrinologists or O&G’s. Occasionally people will self refer, or come to us a result of findings in a relative.

What is your role in the Service?I have two roles. I manage the regional service. There are three part-time Genetic Counsellors in our team, four part-time Clinical Geneticists, two part-time fellows and one administration support person. I co-ordinate 46 clinics in ten regional centres per year. My other role is clinical. I attend and organise clinics in five regional centres.

What is the Genetic Counsellor/client ratio in the region?In 2012 there was 1 counsellor per 462 patients seen in the country.

Are there any needs in terms of the genetics clinic in rural and regional areas that you feel are not being addressed?People in the country are significantly disadvantaged with respect to access to funded genetic testing. City dwellers can access this through the large public hospitals.

There are two regions in Victoria that are not well covered by our service; these are in the far east and west of the state. I have previously proposed we have a clinic in Horsham, but this has been declined due to lack of funds.

What kind of resources do you have and/or need in your role?We have been providing the same number of clinics to the Regional centres since 2009. Despite increasing referral rates, we do not have the resources to increase our services to meet the increasing demand. The result is that where previously people referred to a clinic would get an appointment at the next one in their region, we now are booking two to three clinics ahead.

What are your thoughts on access and equity in rural health and how we address the gaps?Many people with genetic conditions can have complex ongoing medical needs.

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NATIONAL FOCUS Genetic conditions are usually rare, and not always well understood. There is limited access for country people to multidisciplinary care close to where they live. Sometimes GPs will provide case management for these people, but usually they need to travel to the city for care. The more remotely people live, the greater the difficulty. Barriers to accessing care include travel, and taking time off work.

In an ideal world, we would have more Genetic Counsellors working in the country, with more locally based in the larger centres such as Ballarat and Geelong. This would require buy-in from the local hospitals and additional Government support.

Do you have any thoughts on the effectiveness of the services?Generally people in the country are surprised and pleased they can be seen locally. They usually assume they would have had to travel to town for these services. This was also a finding of Alisha McLauchlan’s Master of Genetic Counselling thesis (also featured in this issue of the newsletter). Anecdotally clients are happy with the service. Local specialists continue to refer to us; we have good working relationships with many of them.

Michelle Sproule, Certified Genetic Counsellor at the Albury/Wodonga Genetics Clinic discusses her role and some of the issues around genetics services in rural/regional settings.

What is the Albury/Wodonga Genetics Clinic?Victorian Clinical Genetics Services (VCGS) has a Rural and Regional Genetics Team and the Albury/Wodonga Genetics Clinic operates under this.

We have six Clinics a year in Albury/Wodonga, staffed by myself and a Clinical Geneticist (Genetics Doctor) and a Genetics Fellow (Trainee).

The Geneticist/Genetics Fellow travels from Melbourne to Albury/Wodonga to do

the Clinics whereas I am based in Albury/Wodonga. I am the only Genetic Counsellor in Victoria that is based in a regional setting. The other Genetic Counsellors who co-ordinate the other regional Clinics are based in Melbourne.

How and for what reasons are people referred to the Clinic? Most children are referred to the Clinic by their Paediatrician if they have learning difficulties, developmental delay or other medical issues. This might be for conditions such as Fragile X syndrome, Cystic fibrosis, Marfan syndrome or various other chromosomal changes.

Adults can be referred by their GP or Obstetrician if they have questions about their pregnancy. They might be worried that their baby could have a genetic condition due to the family history or because of a problem found during an ultrasound or other testing in pregnancy (for example an increased risk of having a baby with Down Syndrome).

Adults may also be referred by a Neurologist or GP if they if they have a parent with a neurological condition which might affect their ability to walk or talk, such as Huntington’s disease or Spinocerebellar ataxia. They may like to know if they are going to develop that condition in the future. Occasionally people self refer.

What is your role at the Clinic?Since I am based in a regional setting my role is very diverse. I spend a lot of time organising the Clinics where families attend, which is often to see if there may be a genetic explanation as to why their child has learning/developmental delay.

I also see clients between the clinics, particularly when they are pregnant and need some answers quickly about whether their baby may have a genetic condition.

Unfortunately, I have very limited administration support from Melbourne so I also I spend a lot of time doing administration tasks such as data entry, typing letters, tracking down genetic testing results, amongst others.

How is information communicated between the Clinic and the Melbourne based VCGS?I have a very close relationship with clinical staff from Melbourne and we communicate regularly about our clients. This is either face to face, as I work in Melbourne one day a month, over the phone or via email. I also have a very close relationship with the laboratory in Melbourne so can easily contact them about patient’s results and how to interpret them.

How many people are located in your service area compared to the staff at the Clinic? The population of Albury/Wodonga and surrounding areas is about 100,000 people. There is one Genetic Counsellor (myself) working 3 days a week. We also have a Clinical Geneticist and Genetics Fellow attending our Clinics. I also provide genetic services for the Shepparton Genetics Clinic with a Geneticist and Genetics Fellow. I therefore cover most of North-East Victoria and Southern NSW.

What kind of resources do you have and/or need in your role? I am lucky enough to have access to lots of resources such as clinical staff, text books, etc. Unfortunately there isn’t much professional development available locally since it is such a specialised area so I mostly travel to Melbourne. I am usually happy to do this. It is also a good way of keeping in touch with my colleagues and not feeling isolated. Also, since we have a smaller population to draw upon there are not many local support groups for people with genetic conditions. Although I try to link families together if they would like this support, it isn’t always possible.

Are there any needs in terms of this regional Clinic that you feel are not being addressed?I wish we had more funding to offer more Clinics so patients didn’t have to wait so long for their appointment. The current waiting list is four to six months.


New Carrier Screening ToolMembers may have seen the article ‘New genetic tests reveal if patients are carriers of debilitating diseases’ published by the Herald Sun on 1 June.The Victorian Clinical Genetics Services (VCGS) has recently launched a new carrier screening test that will enable individuals and couples to find out about their chance of having a child with three relatively common inherited conditions: cystic fibrosis (CF), fragile X syndrome (FXS) and spinal muscular atrophy (SMA).

The test only detects the most common genetic mutations found in the Australian population for these conditions, so depending on the condition, 90-99% of carriers will be identified. Having this information enables couples to make reproductive decisions.

The VCGS recommend that this test is preferably undertaken prior to pregnancy or in early pregnancy (prior to 12 weeks) to ensure there is time to make decisions.

If a couple have an increased risk for one of these conditions they can choose to have prenatal diagnosis once they are pregnant, or they can have an embryo tested (pre-implantation genetic diagnosis) prior to IVF.

One concern in the community may be that this could result in fewer children being born with these conditions and the subsequent devaluing of the lives of people who have these conditions.

In the Herald Sun article, Associate Professor David Amor Head of VCGS noted that it “was unclear if this would lead to a decline in children born with these conditions because it was unclear what choices couples made when facing these decisions”.

All decisions made in relation to reproductive genetic testing should be autonomous informed decisions made by the couple concerned.

Conditions included in the test: CF mainly impacts on the lungs and digestive system. People with CF produce an increased amount of thick and sticky mucous which builds up in the lungs, airways and digestive system, resulting in impaired digestive function and recurrent lung infections. This leads to irreversible damage to the lungs and can ultimately cause lung failure. There is currently no cure for CF, but there is treatment to assist with digestion and infections, as well as daily physiotherapy to help dislodge mucous. The carrier rate in the general population is 1 in 25 people.

FXS is the most common cause of inherited intellectual disability. People who have FXS can show developmental delay, learning difficulties, anxiety, autism and epilepsy, and these features can vary in severity. Males are more likely to be severely affected compared

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to females. There are some interventions that can improve outcomes for people with FXS, including educational, behavioural and medical interventions, but there is no cure. There are also implications for carriers of FXS as some females who are carriers may undergo early menopause. The carrier rate for FXS in the general population is 1 in 150 people.

SMA is a complex degenerative condition that affects the nerves in the spinal cord, resulting in increasing muscle weakness, and can affect individuals across the lifespan. This muscle weakness progressively increases over time, and the shoulder, hip and back muscles tend to be the most severely affected. There is no affect on intelligence. There are four types of SMA each with a different severity and age of onset, with SMA type 1 being the most severe, infants with SMA1 would usually do not tend to live past age two.

SMA types 2 and 3 tend to progress more slowly and depending on how severe the condition is, children with these types can live into early adulthood, but most are unable to stand or walk without assistance.

For people with SMA type 4, their symptoms tend to develop during adulthood. While there is no cure for SMA, treatments and interventions exist that can assist with managing symptoms and help to improve quality of life. The carrier rate for SMA in the general population is 1 in 40 people.

The Herald-Sun article also raised the issue of equity of access to genetic testing. The test costs $385 and there is no Medicare rebate. This may be a prohibitive expense for some families. In the article, Julie Cini, Chief Executive of the SMA Association of Australia urges the Federal Government to subsidise this cost.

As Julie says, "This disease does not discriminate; it gets the wealthy, it gets the poor. That's why we are advocating so strongly so it's not something that only the wealthy can have”.

The GSNV also supports equity of access to all genetic testing including carrier screening, and supports all initiatives that encourage equity. Genetic testing is currently funded from different sources: the Federal Government subsidises some tests through a Medicare rebate, the State Governments subsidise some tests through public hospitals, and patients are required to pay for other tests.

In 2011, the Federal Government established a committee to review current genetic testing arrangements. This committee was due to report their findings by 30 December, 2012, but there have been no public announcements, nor was the report ever circulated, as promised, for professional peer comment. Private health insurers do not provide any funding for genetic testing as it is inevitably an outpatient episode.

The issue of an increasingly stretched health budget means that governments must rationalise how money is spent on health. This is likely to be a significant issue as the number of genetic tests increases with improvements in technology. Health providers now have to choose between making tests available at patient’s expense, leading to inequity, or not providing the tests for anyone.

For more information about the VCGS Reproductive Genetic Carrier Screening, please refer to the information sheet available on the VCGS website www.vcgs.org.au/clinical//Documents/PDF/VCGS_ReproductiveGeneticCarrierScreening_TestRequestForm_18April2013_V16_FINAL_INFO_SHEET_AND_REQ_FORM.pdf

For more information about funding of genetic testing visit http://ama.com.au/position-statement/genetic-testing-2012alrc.gov.au/publications/10-genetic-tesing/access-genetic testingor http://genetictesting.rcpa.edu.au/ (This website provides a list of all genetic tests available in Australia).

Sources:• www.heraldsun.com.au/news/

victoria/new-genetic-tests-reveal-if-patients-are-carriers-of-debilitating-diseases/story-fni0fit3-1226654798005

• www.vcgs.org.au/clinical//Documents/PDF/VCGS_ReproductiveGeneticCarrier Screening_TestRequestForm_ 18April2013_V16_FINAL_INFO_SHEET_AND_REQ_FORM.pdf

• www.cysticfibrosis.org.au/all/learn/• http://fragilex.org.au/what-

is-fragile-x/symptoms-and-charateristics/

• www.smaaustralia.org.au/support-services/information-on-sma/

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Stepping Up for Down SyndromeThe Age Run Melbourne, presented by People’s Choice, was held on 21 July 2013. Over the past five years this annual event has seen the community rally to raise over six million dollars for over 400 charities.

The GSNV congratulates Michelle Somerville (pictured) whose family team raised over $2135 for Down Syndrome Australia, and Sandra Murray (pictured) who raised $570 running for Down Syndrome Victoria.

Down Syndrome Victoria is continuing to raise awareness and funds with Step UP! for Down Syndrome.

This huge, national celebration brings people with Down syndrome and their families and friends together during Down Syndrome Awareness Week in October. Participate to raise funds for education, support and advocacy programs provided by Down Syndrome Victoria.

Keep an eye on their website www.stepupfordownsyndrome.org.au for exciting updates.

Source: • www.downsyndromevictoria.org.au• www.runmelbourne.com.au


BRCA gene testingGenetic testing for the breast cancer gene BRCA has received extensive media attention in the past few months following Angelina Jolie’s opinion piece in the New York Times. Jolie’s decision to have a prophylactic double mastectomy, after being informed that a mutation in the BRCA gene showed she was at increased risk for breast cancer, was seen to be both controversial and brave. Her article and the news coverage that ensued has raised public awareness of the option to have genetic testing for the BRCA1/BRCA2 gene mutations and the choices for management that are available to people who carry a mutation in one of these genes.

However, what has been given less attention is how this kind of genetic testing can be accessed in Australia, which differs from the way in which Jolie would have undergone testing. In addition, this recent media attention may have raised unnecessary anxiety in women (and men) who have a family history of breast cancer.

Breast cancer is a relatively common condition in our community, and in 2009, the risk of developing breast cancer before the age of 85, for women, was 1 in 8. It is also estimated that 5% of all breast cancers are hereditary. Only some of these involve the BRCA1/BRCA2 genes. As such, the vast majority of breast cancer is not a result of an inherited mutation in the BRCA1/BRCA2 genes.

According to Professor Geoff Lindeman, who heads the Familial Cancer Centre at the Royal Melbourne Hospital, the chance of a woman in the general population carrying a mutation in one of these genes is 1 in 800. Without an established family history of breast cancer it is unlikely that a mutation is present.

If you are concerned about your risk of breast cancer due to a family history, Cancer Australia’s website has a risk calculator that can be used to help to estimate a woman’s level of risk for breast cancer. The calculator can accessed at the following link: http://canceraustralia.gov.au/affected-cancer/cancer-types/breast-cancer/your-risk/calculate.

This resource is designed for women who have not yet had a breast cancer, and is aimed at also helping women to gain a greater understanding of the risk factors for breast cancer, and whether and in what ways these risk factors may be influenced.

You can also listen to the online Breast Cancer in my Family Webinar to learn more www.cancervic.org.au/how-we-can-help/family-cancer.

In Australia, genetic testing for the BRCA genes is usually carried out by family cancer services following a breast cancer risk assessment based on the family history. This is conducted by a multi-disciplinary team including specialist doctors and genetic counsellors.

Genetic testing for these genes is usually only offered when the assessment shows the family is at high risk. Testing is generally offered initially to a family member who has already had a cancer. When families meet the high risk criteria they do not have to pay for testing. A list of family cancer services in Victoria is available on the GSNV website, www.gsnv.org.au/ individuals-and-families/clinical-genetics-services.aspx.

If you have a family history of cancer, a GP or trained professional at the Cancer Helpline (13 11 20) can assess what the appropriate next steps are for you.

If you are assessed as having a high-risk family history, you may be referred to a family cancer service. Waiting times for an appointment at a family cancer service may vary from several weeks to several months.

If you live in a regional area, you may have to wait longer for the service to visit your area, however you will have the option of being seen in Metropolitan Melbourne sooner if it is possible for you to travel to Melbourne.

If you are not assessed as having an appropriate family history to be eligible for publically-funded BRCA testing, you will have the option of having privately funded testing, at a cost of approximately $2200.

The chance of having a BRCA gene mutation if you do not meet the criteria for public-funding is generally low (less than 10%).

Most cases of breast cancer are not caused by a mutation in a BRCA gene. However people who have a family or personal history of breast and/or ovarian cancer are encouraged to discuss this with their GP or the Cancer Helpline to ensure that appropriate steps are taken to assess and manage their risk.

Sources:• http://canceraustralia.gov.au/

affected-cancer/cancer-types/breast-cancer/breast-cancer-statistics

• http://theconversation.com/angelina-jolie-has-had-a-double-mastectomy-so-what-is-brca1-14227

• http://theconversation.com/angelina-jolie-has-had-a-double-mastectomy-so-what-is-brca1-14227

NATIONAL FOCUS


Murdoch Childrens Research Institute Step-a-thon for KidsFrom September 2 – 8, the MCRI ran their Step-a-thon to raise money for child health research. This is a national campaign for primary school children aimed at teaching them to make their steps count, encouraging them to keep active given the rise of obesity in Australia, while supporting research.

Step-a-thon is a national campaign for primary school children to help teach them the importance of making every step count.If you would like more information, please visit http://stepathon.org.au/stepathon

Did you know?• ObesityisontheriseinAustralia• 1in10schoolkidssufferfroma

food allergy• Aussiekidsareatthemostatriskof

getting type 1 diabetes• Heartdiseaseisthecauseofonethird

of childhood deaths• EveryweekthreeAustralianchildrenwill

die from cancer

Murdoch Childrens Research Institute is working towards finding preventions and treatments for hundreds of common and rare childhood illnesses, so that kids everywhere can have a healthy future.

Congratulations to all those who got involvedIt wasn’t only our kids making every step count. Here are some ways the wider community helped MCRI to support child health research in September:

• takingpartinafunrun,marathonorother personal challenge event

• holdingacasualFriday• holdingasocialorworkplace

morning tea

DonateEvery little bit counts. Make a donation to support kids' research at https://secure4.everydayhero.com.au/event/stepathon/donate

SERVICES

Chronic Illness Peer Support (CHIPS) Forum'Closing the Gaps' – Identifying the Issues and Exploring Solutions.Date: Tuesday 1 October – Wednesday 2 October

Venue: Ross House, Hayden Raysmith Room, Level 4 247-251 Flinders Lane Melbourne

Time: Registration: 9.30am Close: 3.30pm

Cost: Free to current and new COSHG members Non Members: $15 Service Providers: $50

This two day forum is an opportunity to share your experiences and learn from others.

The event will bring new and experienced Victorian self help groups and health sector network members together to share information and learn from each other.

CHIPS’ sister organisations Self Help Queensland and Self Help Organisations United Together (SHOUT) from the ACT will add their experience of self help and peer support to the forum discussions. Participants will engage in a Q&A session, workshops and presentations.

The event flyer including booking form can be accessed on the GSNV website, www.gsnv.org.au/events.aspx.


THE SMALL GRANTS PROGRAM IS COMING Information regarding the GSNV Small Grants Scheme will be announced in the coming weeks. The 2013 criteria and application process will be announced to coincide with a new GSNV Membership scheme. GSNV membership fees are returned to our members via the Small Grants Scheme and are not used for operations.

Small Grants may be used for a once-off project or activity that your group or persons your group wish to undertake and deem as a benefit to the community.

Examples from past years include printing brochures, venue hire, event organisation, event catering, and purchase of resource material and library books to contribute to a program. Small Grants are not awarded for the purchase of aids and equipment.

This funding is designed to provide once-off financial assistance to support groups who find it difficult to obtain funding via other grants schemes.

GSNV grants may also be used towards administration costs for unfunded agencies.

Keep an eye on our website for more details are they announced: www.gsnv.org.au/support-groups/funding-and-grants.aspx.

ACKNOWLEDGEMENTS The GSNV is proudly supported by the Department of Heath Victoria.

The GSNV thanks the Murdoch Childrens Research Institute for their ongoing support for our work.

CALENDAR OF EVENTS16th International Fragile X and Other Early-Onset Cognitive Disorders Workshop17-20 September Novotel Barossa Valley Resort, South AustraliaFor more information visit www.themeetingpeople.com.au/fragilexworkshop2013

Managing Challenging Behaviour Workshop18 September Sandor’s Motor Inn, MilduraFor more information visitwww.educonsult.biz/pdf/2013-09-nswupdated.pdf

National Short-Statured People of Victoria Convention29 September-5 October Woodfield Centre, Dysart, TasmaniaFor more information visitwww.sspa.org.au

Chronic Illness Peer Support Forum1-2 October Ross House, Flinders Lane, MelbourneFor more information visitwww.coshg.org.au/news.html

Fragile X Syndrome Family and Community Days Adelaide: Monday 16 September Brisbane: Monday 23 September Sydney: Wednesday 25 September Launceston: Friday 1 November For more information visit www.gsnv.org.au/events.aspx

Haemophilia Awareness Week13-19 October

CJD National Conference and Family Meeting18-19 October Melbourne Brain Centre, Parkville

For more information visit www.cjdsupport.org.au

Friends of Sammy-Joe Foundation Market Day27 October Craigieburn Leisure Centre

For more information visit www.friendsof sammyjoe.org

GENETIC SUPPORT & ADVOCACY

• Monilethrix• IdiopathicCD4lymphocytopenia• EPP(earlydiagnosis)

If you would like to make contact and share your experiences with the above conditions, please either contact the GSNV office by phoning (03) 8341 6315 or by emailing [email protected].

For a listing of support groups in Victoria see the links page on the GSNV website: www.gsnv.org.au

We are committed to your privacyNo details will be published without your consent, and those that are published will not include personal contact details. We will obtain consent from both parties before connecting individuals and families.

DisclaimerThe GSNV works to support contact between individuals and families to share experiences. However, in individual cases, there may be differences in approach and opinion. Those placed in contact are alone responsible for the views and opinion shared.

Peer Support Requests 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 advertise their details through the GSNV and we will assist in making connections.

IN BRIEF


Winter/Spring - Genetic Support Network Victoria

Documents

Transcript of Winter/Spring - Genetic Support Network Victoria