Childhood rare diseases and the UN convention on the rights of the child.

This letter discusses an initiative that considered the rights of a child living with a rare disease in the context of the United Nations Convention on the Rights of the Child (UNCRC). The aim was to inform laypeople on the intersection between the UNCRC and rare and undiagnosed diseases. The Project was initiated in Western Australia for a national audience, with a view that it might also provide a framework that is translatable to other jurisdictions internationally. This letter discusses some of the key themes raised by the Project and the potential for further work.

A flexible computational pipeline for research analyses of unsolved clinical exome cases.

Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar. The pipeline ranked 21/34 previously diagnosed variants as top, with 26 in total ranked ≤7th, 3 ranked ≥13th; 5 failed the pipeline filters. Pathogenic/likely pathogenic variants by ACMG criteria were identified for 22/145 unsolved cases, and a previously undefined candidate disease variant for 27/145. This open access pipeline supports the partnership between clinical and research laboratories to improve the diagnosis of unsolved exomes. It provides a flexible framework for iterative developments to further improve diagnosis.

Human Genetics Society of Australasia Position Statement: Online DNA Testing.

Increasingly, consumers have been able to seek DNA testing online to explore their personal genetic information. This increased access to a range of genomic tests has raised concerns among health professionals tasked with providing guidance and support to patients requiring genetic/genomic testing. Individuals will seek genomic testing for a range of purposes; equally, the medical marketplace offers a range of different test types. The Human Genetics Society of Australasia (HGSA) published their first statement on Direct to Consumer Genetic Testing (2012 PS02). This is a revised statement, which considers developments in the field of online DNA testing, including rapid technological changes, diversity of applications and decreasing costs of testing. It draws from the first empirical nationwide study (Genioz - Genomics: National Insights of Australians) and insights from consumers with experience of this technology. The rapid adoption of these tests and the broad range of potential consequences have informed perspectives within this statement. It is the position of the HGSA that both individuals/consumers and health care professionals/providers should be supported to make informed choices about online DNA testing. This means adequate and ongoing education and resources should be available for individuals/consumers and health care professionals/providers before, during and after testing. Health care professionals/providers should be appropriately trained, have relevant experience and should be able to demonstrate (or provide evidence of) a current certification in their field of practice. This statement was ratified at the 2018 HGSA Council Meeting and was recently reviewed in 2019 for consistency with other HGSA position statements.

A survey of folate knowledge and consumer behaviours in Western Australia prior to the introduction of mandatory food fortification.

OBJECTIVES: Prior to the introduction of mandatory folic acid fortification in September 2009, this study collected baseline data on folate awareness, knowledge of pregnancy-relevant public health messages and consumer behaviours in Western Australia. METHODS: One thousand residents aged 18 years or older participated in a cross sectional telephone survey in September 2006. Respondents were recruited randomly from the electronic residential telephone directory. RESULTS: Most respondents reported knowing little or nothing about folate (86%). Women of childbearing age were more likely than other adults to know the association between folate intake and birth defects (82% v 56%) but 41% did not know that folate should be consumed periconceptionally to reduce the risk of spina bifida. Overall, half the respondents did not take supplements and two-thirds did not know if the food products they ate were fortified with folic acid. Associations were detected between knowledge, consumer behaviours and socio-economic indicators such as age, income, highest level of education, area of residence and parental status. IMPLICATIONS: A mix of public health strategies that includes mandatory fortification and the promotion of supplement use should improve the timely and sufficient intake of folate across all socio-economic strata of the Australian population. Strategies that support the introduction of mandatory fortification, such as awareness and education campaigns should be built on a solid understanding of the drivers and barriers to knowledge acquisition and desired consumer behaviours.

Estimates of beneficial and harmful sun exposure times during the year for major Australian population centres.

OBJECTIVE: To examine the influence of geographical and seasonal factors on duration of solar ultraviolet (UV) radiation exposure of skin to produce recommended vitamin D levels without producing erythema. DESIGN AND SETTING: An ecological study using daily Ultraviolet Index (UVI) data collected in major population centres across Australia for 1 year (1 January - 31 December 2001) to calculate sun exposure times for recommended vitamin D production and erythema. MAIN OUTCOME MEASURES: Sun exposure times to produce either serum vitamin D concentrations equivalent to an oral intake of 200-600 IU/day or erythema for people aged 19-50 years with fair skin (Fitzpatrick type II skin) exposing 15% of the body. RESULTS: In January, across Australia, 2-14 minutes of sun three to four times per week at 12:00 is sufficient to ensure recommended vitamin D production in fair-skinned people with 15% of the body exposed. However, erythema can occur in as little as 8 minutes. By contrast, at 10:00 and 15:00, there is a greater difference between exposure time to produce erythema and that to produce recommended vitamin D levels, thereby reducing the risk of sunburn from overexposure. From October to March, around 10-15 minutes of sun exposure at around 10:00 or 15:00 three to four times per week should be enough for fair-skinned people across Australia to produce recommended vitamin D levels. Longer exposure times are needed from April to September, particularly in southern regions of Australia. CONCLUSION: Our study reinforces the importance of existing sun protection messages for the summer months throughout Australia. However, fair-skinned people should be able to obtain sufficient vitamin D from short periods of unprotected sun exposure of the face, arms and hands outside of the peak UV period (10:00-15:00) throughout Australia for most of the year. The greater variability in sun exposure times during winter, means that optimal sun exposure advice should be tailored to each location.