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Epilepsy is a common neurological condition that shows a marked genetic predisposition. The advent of next-generation sequencing (NGS) has transformed clinical genetic testing by allowing the rapid screen for causative variants in multiple genes. There are currently no NGS-based multigene panel diagnostic tests available for epilepsy as a licensed clinical diagnostic test in Ontario, Canada. Eligible patient samples are sent out of country for testing by commercial laboratories, which incurs significant cost to the public healthcare system.
An expert Working Group of medical geneticists, pediatric neurologists/epileptologists, biochemical geneticists, and clinical molecular geneticists from Ontario was formed by the Laboratories and Genetics Branch of the Ontario Ministry of Health and Long-Term Care to develop a programmatic approach to implementing epilepsy panel testing as a provincial service.
The Working Group made several recommendations for testing to support the clinical delivery of care in Ontario. First, an extension of community healthcare outcomes-based program should be incorporated to inform and educate ordering providers when requesting and interpreting a genetic panel test. Second, any gene panel testing must be “evidence-based” and takes into account varied clinical indications to reduce the chance of uncertain and secondary results. Finally, an ongoing evaluative process was recommended to ensure continued test improvement for the future.
This epilepsy panel testing implementation plan will be a model for genetic care directed toward a specific set of conditions in the province and serve as a prototype for genetic testing for other genetically heterogeneous diseases.
An improved understanding of diagnostic and treatment practices for patients with rare primary mitochondrial disorders can support benchmarking against guidelines and establish priorities for evaluative research. We aimed to describe physician care for patients with mitochondrial diseases in Canada, including variation in care.
We conducted a cross-sectional survey of Canadian physicians involved in the diagnosis and/or ongoing care of patients with mitochondrial diseases. We used snowball sampling to identify potentially eligible participants, who were contacted by mail up to five times and invited to complete a questionnaire by mail or internet. The questionnaire addressed: personal experience in providing care for mitochondrial disorders; diagnostic and treatment practices; challenges in accessing tests or treatments; and views regarding research priorities.
We received 58 survey responses (52% response rate). Most respondents (83%) reported spending 20% or less of their clinical practice time caring for patients with mitochondrial disorders. We identified important variation in diagnostic care, although assessments frequently reported as diagnostically helpful (e.g., brain magnetic resonance imaging, MRI/MR spectroscopy) were also recommended in published guidelines. Approximately half (49%) of participants would recommend “mitochondrial cocktails” for all or most patients, but we identified variation in responses regarding specific vitamins and cofactors. A majority of physicians recommended studies on the development of effective therapies as the top research priority.
While Canadian physicians’ views about diagnostic care and disease management are aligned with published recommendations, important variations in care reflect persistent areas of uncertainty and a need for empirical evidence to support and update standard protocols.
An effective conservation strategy for a species requires knowledge of its biology and life history. This applies to the endangered Ma’oma’o Gymnomyza samoensis, a honeyeater endemic to the Samoan archipelago. Now locally extinct in American Samoa, this species is currently found only in declining numbers on the islands of Upolu and Savai’i in Samoa. Despite being endangered, the life history and breeding behaviour of the Ma’oma’o has not been documented previously. Here we examine Ma’oma’o nesting and breeding biology, which are unique among studied honeyeaters and unusual for passerines in general. Ma’oma’o lay only a single egg per clutch and have an extended breeding season that occurs outside the rainy season and peaks during budburst. Allometric analysis of the length of the nesting period of different honeyeaters versus adult body weight showed that Ma’oma’o remain in the nest for a longer period than expected for their body size. The post-fledging dependency period of 2.5–3 months was also extended compared to other honeyeater species. No Ma’oma’o were observed re-nesting after successfully raising a chick, though pairs attempted to re-nest following breeding failure. Despite the extended breeding season, the maximum annual reproductive capacity of Ma’oma’o is limited by their one-egg clutch and failure to nest again after fledging one chick. We discuss how these slow life history traits can influence conservation strategies, affect monitoring and limit recovery.
Bar-tailed Godwits Limosa lapponica and Great Knots Calidris tenuirostris are long-distance migratory shorebirds with declining numbers in the East Asian-Australasian Flyway. One of the most important staging sites for these two species during northward migration is Yalu Jiang coastal wetland in the north Yellow Sea. Historical counts have been limited to once a year and conducted at different periods; these yield inadequate data for population monitoring. We estimated the numbers of Bar-tailed Godwits and Great Knots and described their migration phenology during northward migration from 2010 to 2012 at the Yalu Jiang coastal wetland, using a combination of periodic area-wide counts over the migration period and a modelling approach that estimates passage times and total numbers of birds transiting. The mean arrival date for L. l. baueri godwits was 29 March and mean departure date was 8 May. Corresponding dates were 11 April and 15 May for L. l. menzbieri godwits and 7 April and 14 May for Great Knots. We estimated that an annual average of over 68,000 Bar-tailed Godwits and 44,000 Great Knots used the area on northward migration from 2010–2012. Our results indicate that the Yalu Jiang coastal wetland supports on average at least 42% of the flyway’s northward-migrating L. l. baueri godwits, 19% of L. l. menzbieri godwits, and 22% of the Great Knots. Comparisons with historical counts conducted during peak migration periods indicate a 13% decline in Bar-tailed Godwits since 2004 and an 18% decline in Great Knots since 1999. Our results confirm that the study area remains the most important northward migration staging site for Bar-tailed Godwits and indicate that it has become the most important northward migration staging site for Great Knots along the flyway.