Newsletters April 2011
The key items in this newsletter are:
- Awakening Australia to Rare Diseases: Symposium
- Familial Hypercholesterolaemia Cascade Screening Program
- Prenatal Screening Program
- The American College of Medical Genetics Annual Clinical Genetics Meeting
- Connecting Western Australia with Indiana
- Online ordering system and pamphlet update
- Staff Changes
- Obituary: Dr Athel Hockey, (McComb), AO. [1923-2011]
- Subscribe to our newsletter
This symposium in Fremantle, Western Australia brought together international experts on rare diseases meeting with national stakeholders to work towards a rare disease strategy for Australia.
Around 150 stakeholders attended, including patients and carers, patient advocates and representatives from patient support organisations, health, disability and social service providers, researchers, biotechnology and pharmaceutical industry representatives and government policy makers.
International speakers included: Domenica Taruscio (ICORD, Italy), Sharon Terry (Genetic Alliance, USA), Segolene Ayme (INSERM, France), Hanns Lochmuller (TREAT-NMD, UK) and Christophe Beroud (INSERM, France).
This symposium provided a unique opportunity for all stakeholders to shape the future direction of strategic planning for rare diseases in Australia.
Session topics included: strategic planning; patient empowerment; patient care, support and management; research and translation; and networks, partnerships and collaborations.
The symposium also saw the official launch of the Australasian Neuromuscular Network and a number of special interest group meetings.
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The Familial Hypercholesterolaemia Cascade Screening Program is on the move!
In the not too distant future UWA will take over the program management and it will be based at the Medical Research Foundation within Royal Perth Hospital. Along with this change a second nurse and an Administrative Officer will be recruited to the familial hypercholesterolaemia (FH) program.
The program has been conducting tele-health clinics with patients in the South West region of the state. This facilitates the health service arm of a research project based in that geographic area. The research project is trialing four methods for identifying patients with FH and this generates new cases of patients at risk.
The FH patient support group has established a website here (external site).
The website provides information on:
- The objectives, activities and services of the FH patient support group
- Inherited high cholesterol disorders
- The FH cascade screening program
Finally, OPHG has initiated the development of a web-based registry for patients with FH. The aims of the registry are to facilitate the cascade screening process and to provide an administrative and research resource to improve clinical management.
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The ongoing evaluation of prenatal screening performance in WA involves the linkage of screening data to pregnancy outcome data.
As part of the evaluation, we provide a preliminary report to first trimester screening providers. This includes screen positive rates, graphical representations of nuchal translucency (NT) and crown rump length (CRL) measurements and age of women attending for screening by service provider. Results are coded to allow individual data to remain confidential.
The latest service provider reports have now been distributed. The data for these reports were collected in 2010 for the third phase of evaluation (2007-2009).
Peter O’Leary attended this meeting which was held in Vancouver, Canada 16 – 20 March 2011. The venue was the Vancouver Convention Centre overlooking the Burrard Inlet with the snow-covered mountains in the background.
The meeting began with a series of special interest group sessions including one on public health. Contributors included Wylie Burke (Washington), Andrea Ferreira-Gonzalez (Virginia) and James O’Leary (Genetic Alliance, no relation to Peter). The themes included balancing the risks and benefits of new genetic tests, the challenges of managing large volumes of data and the importance of engaging public participation in research.
Later at another special interest group, Marc Williams (Utah) described his experience of the benefits of a structured approach to investigating patients with Lynch syndrome and Glen Palomaki (Rhode Is) questioned the value of information from a genetic test or a genetic diagnosis.
In an industry supported symposium, Mei Baker (Wisconsin) described her State’s experience with the newly introduced newborn screening for Severe Combined Immunodeficiency Disorder (SCID).
Preliminary results indicated the TRAC assay has high sensitivity, a false positive rate of <0.02% and a positive predictive value for T-cell lymphopenia of 40% based on flow cell cytometry. A number of speakers addressed the topic of “translating genomic research into health policy” with examples of newborn screening for SCID, family history, prenatal genetic technology, ethics and next generation sequencing.
A symposium on disorders of sex development included some outstanding presentations by Eric Vilain (Los Angeles) on new genetic diagnostic approaches, Richard Rink (Indiana) on surgical options and David Sandberg (Michigan) on psychosocial management of patients.
The final symposium on genomic medicine in the management and prevention of cancer showcased excellent presentations by Marc Williams (Utah) on clinician and patient perspectives, Elizabeth Yano (Los Angeles) on organisational perspectives and Steven Clauser (NIH) on policy, oversight and regulatory frameworks.
This meeting was well attended predominantly by clinical geneticists and genetic counselors and they were provided with an excellent range of scientific and clinical updates.
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In early March, Peter O’Leary visited Professor Eric Meslin and his group at the Centre for Bioethics, Indiana University.
There were several fascinating meetings with outstanding clinical researchers at Indiana University and health service providers at the Indiana State Department of Health.
Discussions with key stakeholders included the Indiana State Health Department initiative to consolidated cord blood banking for research, newborn screening policies and the development of biobanking policies.
An invited lecture to University of Indiana staff and students, (“Ethical Issues in Public Engagement: Lessons from the Western Australia Biobank”) provided an opportunity to showcase the work of OPHG in public engagement, biobank policy development and the recognition of this work through a health Department Operational Directive that mandates all government departments to comply with the guidelines.
During meetings with Professor Meslin and his colleagues, we explored many genomic research and public health policy themes that are common to Indiana and Western Australia.
It was clear that we share many common interests, so we undertook to further develop our collaborations that will enhance public engagement in biobanking, the investigation of ethical and regulatory conundrums and the assessment of model programs to translate research into improved health benefits.
The visit was sponsored by the Richard M. Fairbanks Foundation through a grant to the Predictive Health Ethics Research Program (PredictER) at the Centre of Bioethics.
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Perceptions of cystic fibrosis carrier screening
OPHG in collaboration with Cystic Fibrosis Association of Western Australia (CFWA) undertook a survey of CFWA members.
The aim was to explore the perceptions of individuals with cystic fibrosis and their family members toward population prenatal and preconception CF carrier screening. From a public policy perspective, our findings overall suggested that in principle the views of family members are not a barrier to the introduction of population CF carrier screening.
The results of the survey have been published in the journal Genetic Testing and Molecular Biomarkers (external site).
Maxwell SJ (external site), Kyne G (external site), Molster C (external site), Barker NM (external site), Ormsby J (external site), O'Leary P (external site). Perceptions of population cystic fibrosis prenatal and preconception carrier screening among individuals with cystic fibrosis and their family members. Genet Test Mol Biomarkers 2011 Mar; 15(3):159-64
Motivating intentions to adopt risk-reducing behaviours for chronic diseases: Impact of a public health tool for collecting family health histories
Family history is a non-modifiable risk factor for chronic disease. While an OPHG survey indicates that 60% of WA adults are aware of the importance of family history, less than 30% have actively collected such information and spoken about with a doctor about it.
To address this finding, OPHG (with funding from the Australian Better Health Initiative) has developed a tool to facilitate public access to a means for collecting and recording family health information. The tool was evaluated through a second survey to determine likely uptake, understanding of the key health messages and intentions to adopt risk-reducing behaviours for chronic diseases.
From a public health perspective, the findings indicate that the tool provides an opportunity to motivate individuals to contemplate risk-reducing behaviours. This implies that family health history interventions can complement the population health approach to chronic disease prevention.
The tool is called the Family Health History Worksheet and is available online.
The results of these surveys have been published in the Health Promotion Journal of Australia (external site).
Molster C, Kyne G, O’Leary P. Motivating intentions to adopt risk-reducing behaviours for chronic diseases: Impact of a public health tool for collecting family health histories. Health Promotion Journal of Australia 2011; 22:57-62
Audit of referrals to familial cancer services at GSWA
The Family Cancer Program at Genetic Services WA (GSWA) receives referrals for at risk patients for a genetic predisposition to cancer based on family history.
These referrals should be informed by professional guidelines for identifying at risk patients. OPHG in collaboration with GSWA conducted an audit of referrals in the areas of breast, ovarian and colorectal cancers. Almost 90% of referrals complied with guidelines.
Further, more than 70% provided sufficient information for a risk assessment to be undertaken. However, we suggested that an improvement might still be achieved by exploring the reasons for non-compliance and targeting education and resources in this direction.
The audit results have been published in the Australian and New Zealand Journal of Public Health (external site).
Kyne G, Maxwell S, Brameld K, Harrison K, Goldblatt J, O’Leary P. Compliance with professional guidelines with reference to familial cancer services. Australian and New Zealand Journal of Public Health 2011; DOI: 10.1111/j.1753-6405.2010.00655.x
Impact of single gene and chromosomal disorders on hospital admissions
Using linked population data from the WA Hospital Morbidity Data System OPHG investigated hospital admissions for children and adolescents with a single gene or chromosomal disorder.
For the period 2000-2006 over 14,000 admissions were identified for 3,271 patients, representing nearly 3% of admissions and 4% of total hospital costs for this age group. The number and length of hospital stays were greater than for patients admitted for any reason, indicating that children and adolescents with single gene and chromosomal disorders place higher demands on hospital services than other patients in this age group.
Specific disorders associated with higher demand on hospital services included cystic fibrosis, Down syndrome, Osteogenesis imperfecta, thalassemia and von Willebrand’s disease.
These findings have been published in the journal Public Health Genomics (external site).
Dye DE (external site), Brameld KJ (external site), Maxwell S (external site), Goldblatt J (external site), Bower C (external site), Leonard H (external site), Bourke J (external site), Glasson EJ (external site), O'Leary P (external site).The Impact of Single Gene and Chromosomal Disorders on Hospital Admissions of Children and Adolescents: A Population-Based Study. Public Health Genomics.
To assist with the Department of Health online system for ordering pamphlets and other printed resources, we have placed the following documents on the OPHG website:
- Instructions for how to access the online system (PDF 153KB) (since it is not user-friendly!)
- A summary of the information that is needed to order materials produced by OPHG.
The winds of change are blowing with the following OPHG staff movements taking place:
- Suzy Maxwell is leaving us for 12-months to move to New York while her husband is studying at Columbia University. Suzy has been with us for nearly 5 years and made valuable contributions in epidemiology, health economics, social marketing and health promotion (among others!). We can’t wait for her to come back!
- In April Sarah Baxendale will return from a 6-month secondment with Child and Community Health. Welcome back Sarah! We also thank Jenny Fairthorne for filling in for Sarah while she was away.
- With the move of the FH Cascade Screening Program to UWA, Amanda Juniper will also be relocating to UWA (after a well-earned holiday to Europe). Amanda is the FH Program Coordinator and will continue in this role. We wish Amanda well and know she will continue to do a fantastic job.
A reflection of Athel Hockey’s professional esteem was that she was frequently referred to as “the mother of medical genetics” in Western Australia.
During a period of at least 4 decades, Athel energetically and with admirable persistence, promoted the recognition and development of medical genetics as an important entity. This she did initially from her appointment with Mental Health Services and Slow Learning Children’s Group of Western Australia, later to become part of the Disability Services Commission. Athel also initiated Genetic Clinics with medical and counselling services, established at King Edward Memorial Hospital for Women and Princess Margaret Hospital for Children, with country clinics at Albany and Kalgoorlie.
In addition to extensive clinical experience, Athels recall memory was legendary so that, when combined with her networking skills, numerous broad-scope local, national and international collaborations occurred. She was an author on a multitude of published scientific papers.
Athel frequently strongly supported or inspired human and clinical genetic research studies and among her colleagues was valued as a clinician, teacher and mentor; a ubiquitous force. With such attributes Athel was a generous participant on many committees and boards, such as with ethical issues relevant to the disabled or in reproductive technologies. She was a foundation member of the Human Genetic Society of Australasia (HGSA).
Athel still found time to be a social citizen and raised a family of four sons, with her husband Harold, who survives her.
A fruitful and generous life lived to the full.
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