Professional regulation for Australasian genetic counselors.

As a result of the ongoing global expansion of genetic counseling, the need to formalize a system of professional regulation for genetic counselors was identified in Australasia. In June 2017, under the auspices of the Human Genetics Society of Australasia (HGSA), a working party was convened. The purpose of the working party was to provide strategic leadership for the profession of Australasian genetic counselors with a goal to formalize a national regulatory framework for genetic counselors across both Australian and New Zealand jurisdictions. This was ultimately achieved in Australia through full membership with the National Alliance of Self-Regulating Health Professions (NASRHP) while the profession of genetic counseling in New Zealand is utilizing this framework to establish their regulation pathway. Regulation has a number of implications for genetic counselors, their employers, and the wider community, with the primary purpose of regulation being protection of the public from harm. This paper details the process of formalizing self-regulation for genetic counselors in Australasia, by defining professional regulation; outlining the purpose of regulation and the status of regulation for genetic counselors in Australasia and internationally, as well as health professionals more broadly; exploring the challenges of establishing regulation in Australasia; and the next steps for regulation in Australasia. Through detailing this process, the intention is to provide a framework to support genetic counseling colleagues internationally as well as other health professions in Australasia to explore and achieve regulation through their respective jurisdiction.

Is there a Role for Genetic Counselors in Prenatal Paternity Testing? - an Assessment Based on Audit of 13 years of Clinical Experience in South Australia.

The role of genetic counselors in prenatal paternity testing has not been widely studied in the genetic counseling literature. In South Australia, the genetic counselors of the State's public sector clinical genetics service are the primary contact point for women seeking information and testing, also coordinating the testing process. This has provided the opportunity to review all prenatal paternity testing performed in the State over a 13 year period and to consider the role played by the genetic counselor. We explored the reasons why women requested prenatal paternity testing and whether the genetic counselor was an appropriate health professional to facilitate this testing for women. The study had two parts, an audit of the clinical genetics files of 160 women who requested prenatal paternity testing between March 2001 and March 2014, and qualitative interviews of genetic counselors, clinical geneticists, obstetricians and social workers with involvement in this area. The audit determined that in 69.9 % of cases the long-term partner was the father of the pregnancy, for 23.7 % the short-term or other partner was the father and for 6.4 % the paternity results were not known by the genetic counselor. For 45.5 % of women whose long-term partner was excluded as the father, the women chose to have a termination of pregnancy. The results of the qualitative interviews yielded five major themes: accessibility of testing, role of the genetic counselor, social and relationship issues, decision making in pregnancy and emotional issues. We conclude that the genetic counselor is an appropriate health professional to facilitate prenatal paternity testing. Genetic counselors did not view their role as significantly different from a request for prenatal testing for another indication.

Washing uniforms at home: adherence to hospital policy.

Infection control is a priority for all hospitals to reduce the spread of healthcare-associated infections (HCAIs). Textiles especially uniforms, are a possible route of HCAI transmission. There are protocols to ensure hospital laundry services meet accepted standards, however healthcare uniforms are laundered by staff at home and variations in practice occur. A questionnaire was used to conduct a service evaluation at four hospitals in different NHS trusts to determine how closely healthcare staff followed hospital guidelines on laundering and aftercare of uniforms at home. Responses showed that not all staff followed these guidelines; 44% of staff washed their uniforms below the recommended temperature of 60°C, which presents a potential route for cross-contamination and infection.

Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.

The clinically and genetically heterogenous foetal akinesias have low rates of genetic diagnosis. Exome sequencing of two siblings with phenotypic lethal multiple pterygium syndrome identified compound heterozygozity for a known splice site mutation (c.691+2T>C) and a novel missense mutation (c.956A>G; p.His319Arg) in glycogen branching enzyme 1 (GBE1). GBE1 mutations cause glycogen storage disease IV (GSD IV), including a severe foetal akinesia sub-phenotype. Re-investigating the muscle pathology identified storage material, consistent with GSD IV, which was confirmed biochemically. This study highlights the power of exome sequencing in genetically heterogeneous diseases and adds multiple pterygium syndrome to the phenotypic spectrum of GBE1 mutation.

Long-term neurodevelopmental outcome of preterm children with unilateral cerebral lesions diagnosed by neonatal ultrasound.

OBJECTIVE: Little information is available on long-term neurodevelopmental outcome of preterm infants with unilateral cerebral lesions detected by neonatal cranial ultrasound. This study aims to investigate the long-term outcome in a cohort of very preterm infants with unilateral cerebral lesions acquired in the perinatal period. METHODS: A prospective cohort study of 668 preterm infants (<33 weeks gestation; birth years 1985-1991) at a single tertiary perinatal centre in the UK. All infants had serial cranial ultrasound examination in the neonatal period. Outcome was assessed at age 8 years with the Wechsler Intelligence Scales for Children (WISC-R), Test of Visuo-motor Integration (VMI) and the Test of Motor Impairment (TOMI). RESULTS: Of the 668 infants, 369 infants had normal ultrasound scans. Two hundred and ninety nine children had bilateral parenchymal or non-parenchymal lesions (57 left-sided, 41 right-sided, 201 bilateral). Five hundred and thirty four (79%) children attended follow-up at age 8 years. Mean Full Scale IQ (FSIQ) was 101 (SD+/-16), 93 (SD+/-17), 102 (SD+/-17) and 91 (SD+/-21) for normal, left-sided, right-sided and bilateral lesion groups respectively. In all groups verbal IQ (VIQ) was higher than performance IQ (PIQ). Scores of FSIQ, VIQ and PIQ, VMI and TOMI were significantly different between the groups. After exclusion of children with parenchymal lesions, however, the difference was only significant for the TOMI scores. In all tests, children with left-sided lesions performed poorer than children with right-sided lesions. CONCLUSIONS: In this cohort of preterm infants with unilateral cerebral lesions, verbal function was preserved over non-verbal function independently of the side of lesion. Furthermore, the results suggest that the neurodevelopmental outcome of children with left-sided lesions is less favourable than that of children with right-sided lesions.

Ammonium removal in constructed wetland microcosms as influenced by season and organic carbon load.

We evaluated ammonium nitrogen removal and nitrogen transformations in three-year-old, batch-operated, subsurface wetland microcosms. Treatments included replicates of Typha latifolia, Carex rostrata, and unplanted controls when influent carbon was excluded, and C. rostrata with an influent containing organic carbon. A series of 10-day batch incubations were conducted over a simulated yearlong cycle of seasons. The presence of plants significantly enhanced ammonium removal during both summer (24 degrees C, active plant growth) and winter (4 degrees C, plant dormancy) conditions, but significant differences between plant species were evident only in summer when C. rostrata outperformed T. latifolia. The effect of organic carbon load was distinctly seasonal, enhancing C. rostrata ammonium removal in winter but having an inhibitory effect in summer. Season did not influence ammonium removal in T. latifolia or unplanted columns. Net production of organic carbon was evident year-round in units without an influent organic carbon source, but was enhanced in summer, especially for C. rostrata, which produced significantly more than T. latifolia and unplanted controls. No differences in production were evident between species in winter. COD values for C. rostrata microcosms with and without influent organic carbon converged within 24 hours in winter and 7 days in summer. Gravel sorption, microbial immobilization and sequential nitrification/denitrification appear to be the major nitrogen removal mechanisms. All evidence suggests differences between season and species are due to differences in seasonal variation of root-zone oxidation.