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Genomics is revolutionizing biomedical research, medicine and healthcare globally in academic, public and industry sectors alike. Concrete examples around the world show that huge benefits for patients, society and economy can be accrued through effective and responsible genomic research and clinical applications. Unfortunately, Ireland has fallen behind and needs to act now in order to catch up. Here, we identify key issues that have resulted in Ireland lagging behind, describe how genomics can benefit Ireland and its people and outline the measures needed to make genomics work for Ireland and Irish patients. There is now an urgent need for a national genomics strategy that enables an effective, collaborative, responsible, well-regulated, and patient centred environment where genome research and clinical genomics can thrive. We present eight recommendations that could be the pillars of a national genomics health strategy.

Background Maternity care is facing increasing intervention and iatrogenic morbidity rates. This can be attributed, in part, to higher-risk maternity populations, but also to a risk culture in which birth is increasingly seen as abnormal. Technology and intervention are used to prevent perceived implication in adverse outcomes and litigation. Question Does midwives' and obstetricians' perception of risk affect care practices for normal birth and low-risk women in labour, taking into account different settings? Methods The research methods are developed within a qualitative framework. Data were collected using semi-structured interviews and analysed thematically. A purposive sample of 25 midwives and obstetricians were recruited from three maternity settings in Ireland. This included obstetric-led hospitals, an alongside midwifery-led unit and the community. Findings Midwifery is assuming a peripheral position with regard to normal birth as a progressive culture of risk and medicalisation affects the provision of maternity care. This is revealed in four themes; (1) professional autonomy and hierarchy in maternity care; (2) midwifery-led care as an undervalued and unsupported aspiration; (3) a shift in focus from striving for normality to risk management; and (4) viewing pregnancy through a 'risk-lens'. Discussion Factors connected to the increased medicalisation of birth contribute to the lack of midwifery responsibility for low-risk women and normal birth. Midwives are resigned to the current situation and as a profession are reluctant to take action. Conclusion Improved models of care, distinct from medical jurisdiction, are required. Midwives must take responsibility for leading change as their professional identity is in jeopardy.

Background Risk and risk assessment are increasingly affecting how maternity services are governed with rates of intervention continuing to rise in obstetric-led services for low-risk women. Aim This review synthesises original research that examines how perceptions of risk impact on midwives’ and obstetricians’ facilitation of care for low-risk women in labour. Methods A five stage process for conducting integrative reviews was employed. A robust search strategy incorporated electronic searches in The Cochrane Database of Systematic Reviews, EBSCO, EMBASE and Scopus from 2009 to 2014. The initial search resulted in the retrieval of 2429 articles which were reduced to 14 through a systematic process. Findings The results of this review revealed an over-arching theme of an assumption of abnormality in the birthing process leading to unnecessary intervention and surveillance. Three sub-themes are presented under this central theme – (1) external influences on risk perception that include practice guidelines and professional responsibility; (2) influence of personal fears and values on risk perception focusing on differing attitudes to physiological birth; (3) impact of professionals’ perceptions of risk on women's decision-making in labour. Conclusion Practice is influenced by an assumption of birth as abnormal and is compounded by issues such as institutional risk management, lack of midwifery responsibility, fear of involvement in adverse outcomes and personal values regarding physiological birth. These findings suggest that a shift in focus away from risk and towards health and wellbeing in the planning of maternity care may go some way towards providing a solution to the increasing intervention rates for low-risk women.

Maternal and infant mortality rates are reassuringly low in developed countries. Despite this, birth is increasingly seen as risky by women, health professionals and society in general. In wider society, women are subjected to a litany of risks regarding birth, including sensationalising negative incidents by the media. Within maternity care, both structural and operational factors contribute to heightened risk perceptions. Women are processed through a system where risk-management strategies can take precedence over individualised care as health professionals attempt to protect themselves from implication in adverse outcomes and litigation. This results in increasingly interventionist care, depriving women of psychosocial safety in the birth process. Midwifery, as a profession promoting trust in normal birth, is threatened by this dominant medical model of maternity care and interventionist birth practices. Midwives need to act to reclaim their role in promoting normal birth, while balancing considerations of risk with the principle of woman-centred care.

PurposeMarket demands, especially within the automotive sector, are pushing towards increased product complexity and performance with zero ship parts per million (PPM) requirements. To achieve both quality and performance goals very stringent requirements are being placed on the test manufacturing solution. These requirements lead to conflicts between cost, performance and quality. The purpose of this paper is twofold: first, to investigate the conflicts that exist between quality, performance, and cost, and second, to review current practices and techniques being used in tests to minimise ship PPM.Design/methodology/approachIn the paper a test process development flow chart is presented, along with a review of current methods being used for both defect screening and performance testing. The relationship between test coverage and ship PPM is investigated using established yield models. The cost in terms of gross margin degradation of yield loss at final test to extensive screening and aggressive limits is modelled.FindingsThe paper finds that to maintain ship PPM very high levels of test coverage are required – typically test coverage needs to be > 98 per cent. The cost of yield loss to this testing typically matches on a percentage point basis gross margin degradation. Reviewing current test methods shows the need both for extensive defect‐screening techniques for the defective portion of the population, and for optimised guardbanding techniques for performance testing. Weaknesses that exist are the absence of a model to predict outgoing PPM, and the conservative nature of existing guardband techniques for performance testing.Originality/valueThis is a review paper and it serves to highlight both the weaknesses in current practices, and areas where improved models are required.

Two key features of myeloma cells are the deregulation of the cell cycle and the dependency on the expression of the BCL2 family of anti-apoptotic proteins. The cell division cycle 7 (CDC7) is an essential S-phase kinase and emerging CDC7 inhibitors are effective in a variety of preclinical cancer models. These compounds also inhibit CDK9 which is relevant for MCL-1 expression. The activity and mechanism of action of the dual CDC7/CDK9 inhibitor PHA-767491 was assessed in a panel of multiple myeloma cell lines, in primary samples from patients, in the presence of stromal cells and in combination with drugs used in current chemotherapeutic regimens. We report that in all conditions myeloma cells undergo cell death upon PHA-767491 treatment and we report an overall additive effect with melphalan, bortezomib and doxorubicin, thus supporting further assessment of targeting CDC7 and CDK9 in multiple myeloma.

OBJECTIVE--To define the region on human chromosome 19 carrying the gene for malignant hyperthermia susceptibility and to evaluate the use of flanking DNA markers in diagnosing susceptibility. DESIGN--Prospective molecular genetic linkage studies in a large malignant hyperthermia pedigree. SETTING--Irish malignant hyperthermia testing centre. SUBJECTS--A large Irish malignant hyperthermia pedigree. MAIN OUTCOME MEASURES--Routine diagnosis of susceptibility to malignant hyperthermia with in vitro contracture test on muscle biopsy specimens and genetic linkage between susceptibility and polymorphic DNA markers in a malignant hyperthermia family. RESULTS--Genetic typing of polymorphic DNA markers in a large Irish malignant hyperthermia pedigree generated a lod score of greater than 3 for the marker D19S9 and showed that the gene for susceptibility is flanked by the markers D19S9 and D19S16. These tightly linked flanking markers allowed non-invasive presymptomatic diagnosis of susceptibility in five untested subjects in the large pedigree with an accuracy of greater than 99.7%. CONCLUSIONS--DNA markers flanking the gene for susceptibility to malignant hyperthermia can be used with high accuracy to diagnose susceptibility in subjects in large known malignant hyperthermia pedigrees and may replace the previous in vitro contracture test for diagnosing this inherited disorder in large families with malignant hyperthermia.

peer-reviewed A blind source signal separation problem that was brought to a Study Group in Limerick in 2013 required a way to prevent the gait of a jogger from masking the heartbeat, when detected by a simple photodiode that measures light transmission through a jogger’s wrist tissues. The group was successful in discovering a singular value decomposition (SVD) approach, which not only allows accurate detection of heart rate but also allows recovery of a good facsimile of the entire blood pressure time series from the mixed photodiode signal. PUBLISHED peer-reviewed