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Background: A new nationally commissioned NHS England Genomic Medicine Service (GMS) was recently established to deliver genomic testing with equity of access for patients affected by rare diseases and cancer. The overarching aim of this research is to evaluate the implementation of the GMS during its early years, identify barriers and enablers to successful implementation, and provide recommendations for practice. The focus will be on the use of genomic testing for paediatric rare diseases.\ud Methods: This will be a four-year mixed-methods research programme using clinic observations, interviews and surveys. Study 1 consists of qualitative interviews with designers/implementers of the GMS in Year 1 of the research programme, along with documentary analysis to understand the intended outcomes for the Service. These will be revisited in Year 4 to compare intended outcomes with what happened in practice, and to identify barriers and facilitators that were encountered along the way. Study 2 consists of clinic observations (pre-test counselling and results disclosure) to examine the interaction between health professionals and parents, along with follow-up interviews with both after each observation. Study 3 consists of a longitudinal survey with parents at two timepoints (time of testing and 12 months post-results) along with follow-up interviews, to examine parent-reported experiences and outcomes. Study 4 consists of qualitative interviews and a cross-sectional survey with medical specialists to identify preparedness, facilitators and challenges to mainstreaming genomic testing. The use of theory-based and pre-specified constructs will help generalise the findings and enable integration across the various sub-studies. \ud Dissemination: We will disseminate our results to policymakers as findings emerge, so any suggested changes to service provision can be considered in a timely manner. A workshop with key stakeholders will be held in Year 4 to develop and agree a set of recommendations for practice.

BACKGROUND: A new nationally commissioned NHS England Genomic Medicine Service (GMS) was recently established to deliver genomic testing with equity of access for patients affected by rare diseases and cancer. The overarching aim of this research is to evaluate the implementation of the GMS during its early years, identify barriers and enablers to successful implementation, and provide recommendations for practice. The focus will be on the use of genomic testing for paediatric rare diseases.METHODS: This will be a four-year mixed-methods research programme using clinic observations, interviews and surveys. Study 1 consists of qualitative interviews with designers/implementers of the GMS in Year 1 of the research programme, along with documentary analysis to understand the intended outcomes for the Service. These will be revisited in Year 4 to compare intended outcomes with what happened in practice, and to identify barriers and facilitators that were encountered along the way. Study 2 consists of clinic observations (pre-test counselling and results disclosure) to examine the interaction between health professionals and parents, along with follow-up interviews with both after each observation. Study 3 consists of a longitudinal survey with parents at two timepoints (time of testing and 12 months post-results) along with follow-up interviews, to examine parent-reported experiences and outcomes. Study 4 consists of qualitative interviews and a cross-sectional survey with medical specialists to identify preparedness, facilitators and challenges to mainstreaming genomic testing. The use of theory-based and prespecified constructs will help generalise the findings and enable integration across the various sub-studies.DISSEMINATION: We will disseminate our results to policymakers as findings emerge, so any suggested changes to service provision can be considered in a timely manner. A workshop with key stakeholders will be held in Year 4 to develop and agree a set of recommendations for practice.

Objective: To compare the effectiveness of an animation against two leaflets with and without images, in educating young people about genome sequencing (GS). Methods: An experimental survey with three assessment points (pre- intervention [T1], post – intervention [T2], 6-week follow-up [T3]). Participants (N = 606) were randomly assigned to receive one of three educational interventions; animation (n = 212); leaflet with images (n = 197); or leaflet with text only (n = 197). Measures of objective and subjective knowledge were completed at T1 (N = 606), T2 (N = 606) and T3 (N = 459). Measures of attitudes, intentions and beliefs towards GS and satisfaction with intervention were completed at T2 only. Results: The type of educational intervention young people received had no significant impact on their objective or subjective knowledge at both T2 and T3 (all p > .05), nor did the educational intervention type affect their attitudes, intentions and beliefs towards GS at T2 (p > .05). However, participant satisfaction was significantly higher in the animation group than the leaflet groups (p < .001). Conclusion: Animations and leaflets are both effective ways to deliver genomic education to young people, but the animations lead to higher satisfaction. Practice implications: Different individuals may find different modes of educational resources more accessible than others. Therefore a range of resources should ideally be made available to patients.

The goals of this study were to assess global trends in clinical implementation of noninvasive prenatal testing (NIPT), as commercial tests are marketed increasingly worldwide, and to identify potential challenges for current or future use.We surveyed clinicians from 46 countries about the availability of NIPT, their experiences with using NIPT, and their views on clinical, ethical, and legal issues affecting implementation in their countries.Forty-nine respondents from 28 countries completed the survey. The majority reported that NIPT is available in their country (n = 43) and that they offer NIPT in their current practice (n = 38). Eighteen respondents from 14 countries reported that there are plans to introduce NIPT into routine prenatal care in their country. Test prices varied widely, ranging from $350 to $2900, and several respondents observed that high test prices limited or restricted widespread use of NIPT. Responses varied both across and within countries regarding who is offered NIPT and what the overall screening protocol should be.This study provides a snapshot of current use and experiences with NIPT globally. It also highlights differences in service provision that exists both across and within countries, emphasizing the need for developing national and international implementation guidelines for NIPT.

To present the current state of the evidence regarding translation of genetics (the study of single genes) and genomics (the study of all genes and gene-gene or gene-environment interactions) into health care of children with autism spectrum disorder (ASD).This article presents an overview of ASD as an international health challenge, the emerging science related to broad diagnostic criteria, and the role of the nurse in research, education, and practice.Much progress is being made in the understanding of genetics and genomics of ASD. Environmental factors are thought to contribute to the risk of developing ASD by interacting with a number of genes in different ways, thus suggesting causal heterogeneity. The rising identified prevalence of ASD, the changing diagnostic criteria for ASD, and the complexity of the core and associated features have made it difficult to define the ASD phenotype (observable behaviors that result from gene-environment interaction). Because early identification improves opportunities for intervention, researchers are looking for a useful biomarker to detect ASD. This search is complicated by the likelihood that there are multiple causes for multiple expressions that are defined as the autism spectrum.To date, genetic and genomic research on ASD have underscored the complexity of the causes of ASD indicating that there are very complex genetic processes involved that are still not well understood.Nurses will benefit from new knowledge related to early identification, diagnosis, and implications for the family to promote early intervention. Families who have a child with ASD will require nursing support for advocacy for optimal health outcomes.

Genet Test Mol Biomarkers. 2010 Dec;14(6):807-15. Epub 2010 Oct 12. Living without a diagnosis: the parental experience. Lewis C, Skirton H, Jones R.J Genet Couns. 2011 Feb;20(1):80-97. Epub 2010 Sep 29. Can we make assumptions about the psychosocial impact of living as a carrier, based on studies assessing the effects of carrier testing? Lewis C, Skirton H, Jones R. The effect of psychosocial information resources on the psychological impact of genetic testing for patients Background: The genetic testing process has been shown to have a profound psychosocial impact on patients and families, yet research suggests that there is a lack of practical and helpful psychosocial information written to support decision-making. Ideally, this should be available for use both before and after genetic testing and should be easily accessed through genetic clinics. The development of pre-written leaflets or on-line resources which draw on the experiences and advice of families who have been through similar experiences, and are readily available through genetic clinics, might be one way of helping families make necessary adjustments. Aim: The aim of this study was to develop information resources for a) people undergoing carrier testing, and b) parents of children with undiagnosed conditions, and to pilot the use of these resources with service users. Methods: A systematic literature review was conducted to identify key themes to inform the content of the resources. To build on these findings, in-depth interviews were conducted with 11 people who had undergone carrier testing and 14 parents of children without a diagnosis. Interview data were analysed using the grounded theory method. A grey literature search of existing patient information was also conducted. These three phases informed the content of information resources. The development process also included input from genetic specialists, patient group representatives and interviewees. Finally, a pilot study was conducted through three genetic centres to assess the feasibility of a study testing the use of the resources. Findings: The participants in this study were striving for empowerment: carriers sought reproductive empowerment; parents developed empowerment strategies in order to advocate for their child. Moreover, a theory named ‘reconstructing the meaning of being a parent’ was constructed to describe the experience of parenting a child for whom no clear care pathway existed. The importance of providing timely information was identified as being a key factor in supporting parents during their search for a diagnosis. A new model was built to summarise the overarching experience of participants in this study. Conclusions: Empowerment was identified as a dynamic and multi-faceted construct. Health professionals and support groups can help facilitate the empowerment process through the provision of timely psychosocial information. This is particularly important in an age when patients are expected to take greater control than ever before over decisions affecting their healthcare.