What next for "counseling" in genetic counseling training: A reflection on how CBT and ACT approaches can contribute to the genetic counseling toolkit.

Counseling techniques are an important component of genetic counseling training and are focused on the person-centered counseling philosophy. While this has a long tradition within the profession and underpins the empowerment goal, it should not limit consideration of the potential benefits of education on other psychotherapeutic approaches such as the cognitive philosophy. The goal of empowerment in genetic counseling requires patients to receive information in a way that is accessible to them and to make sense of it in relation to their own health, lifestyle, and family information. This assimilation of new information is a complex cognitive process, and yet it is one that genetic counselors do not routinely actively facilitate. Rather the counseling component of genetic counseling has traditionally focused on emotionally supporting the patient which is driven by the person-centered philosophy that is covered in genetic counseling training. This paper argues for the potential for adopting more cognitive approaches informed by cognitive-behavioral therapy (CBT) and acceptance and commitment therapy (ACT), as these short interventions can have wide impact, including engaging patients who do not want to discuss feelings, helping people to make sense of information (not just gain knowledge), and helping people to change the relationship they have with their thoughts. This paper advocates for an introduction to CBT and ACT to be incorporated into prequalification training and for more advanced training to be available to postqualification genetic counselors.

What next for "counseling" in genetic counseling training: A co-production workshop exploring how CBT and ACT approaches can contribute to the genetic counseling toolkit.

Counseling techniques are an important part of genetic counseling, and teaching of the humanistic person-centered philosophy has been central to genetic counselor (GC) training. However, other psychotherapeutic approaches, especially cognitive approaches, may also be beneficial for the GC to have in their toolkit. This paper reports on a co-production workshop with newly qualified GCs where the potential for adopting more cognitive approaches informed by cognitive behavioral therapy (CBT) and acceptance and commitment therapy (ACT) was explored. Attendees were taught about the approaches and the rationale for their use in genetic counseling and had a chance to discuss their reactions and ideas for application. The attendees saw great potential for the approaches within their practice, feeling that these short interventions can have a wide impact, including engaging patients who do not want to discuss feelings, helping people to make sense of information (not just gain knowledge), and helping people to change the relationship they have with their thoughts. They were able to identify when they already use some cognitive approaches in their practice, and to see how they could build on this to provide better patient care. The paper advocates for an introduction to CBT and ACT to be incorporated into pre-qualification training, and for more advanced training to be available to post-qualification GCs.

Rapid genome sequencing for pediatrics.

The advancements made in next-generation sequencing (NGS) technology over the past two decades have transformed our understanding of genetic variation in humans and had a profound impact on our ability to diagnose patients with rare genetic diseases. In this review, we discuss the recently developed application of rapid NGS techniques, used to diagnose pediatric patients with suspected rare diseases who are critically ill. We highlight the challenges associated with performing such clinical diagnostics tests in terms of the laboratory infrastructure, bioinformatic analysis pipelines, and the ethical considerations that need to be addressed. We end by looking at what future developments in this field may look like and how they can be used to augment the genetic data to further improve the diagnostic rates for these high-priority patients.

Adoptees' views and experiences of direct-to-consumer (DTC) genomic testing: an exploratory interview study from the UK.

Direct-to-consumer (DTC) genomic testing for ancestry and health may appeal to adoptees looking to fill gaps in their family information. There are only a handful of published studies on adoptees' views and experiences of DTC testing and none of these is from the UK. The recent UK House of Commons Science and Technology Committee report (GB Parliament, House of Commons 2021) did not address the gains or challenges for adopted people specifically, although the Committee did consider that robust evidence of opportunities or risks for any user of a DTC testing kit is limited. In this study presented here, semi-structured interviews were conducted with ten UK adult adoptees recruited via social media. Reflexive thematic analysis (Braun and Clarke 2006, 2019) of the interview transcripts identified three main themes: Decisional influencers of longing, uncertainty and normalisation of DNA kit use; Informational drivers to gain clarity but avoid new worrisome information; and talk around Negotiating Visibility to birth family and commercial third parties. A further theme of Meaning Making related to adoptees' views of testing outcomes as bringing feelings of resolution or discordance. This study identified many challenging deliberations for adoptees in evaluating whether to take a DTC test and what to do when their results were returned. Additionally, adoptees' consideration of data privacy issues appears hampered by already having shared identifying information about themselves in their wider adoptee search. Further research is encouraged.

Scope of professional roles for genetic counsellors and clinical geneticists in the United Kingdom : Position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

This document is written on behalf of the two professional bodies in the United Kingdom that represent genetic counsellors (the Association of Genetic Nurses and Counsellors) and clinical geneticists (the Clinical Genetics Society) and aims to support multidisciplinary working of these professional groups highlighting within a quick-reference format, areas of shared practice and the distinctions between role profiles for a Consultant Clinical Geneticist, Principal/Consultant Genetic Counsellor and the new support role that we have termed 'Genomic Associate', see AGNC career structure [1]. This builds on published documents that articulate the scope of practice of the clinical genetics workforce [2] and specifically the genetic counsellor [3] and clinical geneticist [4] roles.

22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium.

This corrects the article DOI: 10.1038/ejhg.2016.36.

Microarray-based identification of VegT targets in Xenopus.

The Xenopus T box family member VegT is expressed maternally in the vegetal hemisphere of the embryo. Mis-expression of VegT in prospective ectodermal tissue causes ectopic activation of mesodermal and endodermal markers, and ablation of VegT transcripts prevents proper formation of the mesendoderm, with the entire embryo developing as epidermis. These observations define VegT as a key initiator of mesendodermal development in the Xenopus embryo, and in an effort to understand how it exerts its effects we have used microarray analysis to compare gene expression in control animal caps with that in ectodermal tissue expressing an activated form of VegT. This procedure allowed the identification of 99 potential VegT targets, and we went on to study the expression patterns of these genes and then to ask, for those that are expressed in mesoderm or endoderm, which are direct targets of VegT. The putative regulatory regions of the resulting 14 genes were examined for T domain binding sites, and we also asked whether their expression is down-regulated in embryos in which VegT RNA is ablated. Finally, the functions of these genes were assayed by both over-expression and by use of antisense morpholino oligonucleotides. Our results provide new insights into the function of VegT during early Xenopus development.

22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium.

Huntington's disease (HD) is a progressive neurodegenerative condition. At-risk individuals have accessed predictive testing via direct mutation testing since 1993. The UK Huntington's Prediction Consortium has collected anonymised data on UK predictive tests, annually, from 1993 to 2014: 9407 predictive tests were performed across 23 UK centres. Where gender was recorded, 4077 participants were male (44.3%) and 5122 were female (55.7%). The median age of participants was 37 years. The most common reason for predictive testing was to reduce uncertainty (70.5%). Of the 8441 predictive tests on individuals at 50% prior risk, 4629 (54.8%) were reported as mutation negative and 3790 (44.9%) were mutation positive, with 22 (0.3%) in the database being uninterpretable. Using a prevalence figure of 12.3 × 10(-5), the cumulative uptake of predictive testing in the 50% at-risk UK population from 1994 to 2014 was estimated at 17.4% (95% CI: 16.9-18.0%). We present the largest study conducted on predictive testing in HD. Our findings indicate that the vast majority of individuals at risk of HD (>80%) have not undergone predictive testing. Future therapies in HD will likely target presymptomatic individuals; therefore, identifying the at-risk population whose gene status is unknown is of significant public health value.

The GAMY Project: young people's attitudes to genetics in the South Wales valleys.

This paper explores young people's attitudes to genetics. It describes a qualitative study involving a group of teenagers in a deprived South Wales valley town over a period of 18 months. The GAMY (Genetics and Merthyr Youth) Project involved a series of interactions with participants, including 2 interviews, 4 group days and 4 genetics tasks through which these young people learned about, and then reflected upon, issues relating to genetics and health. We have gathered data about the informed attitudes of teenagers to genetics based on deliberative learning and reflection over a long period of time, and as such this paper provides useful insights into the underlying values that are guiding young people's views and the factors that are shaping their responses to new genetic technologies. Attitudes to genetics are complex and not easily generalisable. There were low levels of familiarity with, and knowledge of, genetics from the outset. Most young people did not have pre-existing attitudes towards genetics and had given little or no thought to the topic before the project began. However, levels of awareness and general genetic literacy increased as the project progressed. This study suggests that over time young people can develop an awareness of genetics that makes sense to them; they demonstrate that they can think creatively about genetics, and they are able to engage in considering genetic and other risk factors when thinking about health and disease.

Identifying transcriptional targets.

Identifying the targets of transcription factors is important for understanding cellular processes. We review how targets have previously been isolated and outline new technologies that are being developed to identify novel direct targets, including chromatin immunoprecipitation combined with microarray screening and bioinformatic approaches.

Molecular components of the endoderm specification pathway in Xenopus tropicalis.

Xenopus laevis has been instrumental in elucidating a conserved molecular pathway that regulates vertebrate endoderm specification. However, loss-of-function analysis is required to resolve the precise function of the genes involved. For such analysis, antisense oligos and possibly forward genetics are likely to be more effective in the diploid species Xenopus tropicalis than in the pseudotetraploid Xenopus laevis. Here we have isolated most of the tropicalis genes in the endoderm specification pathway, specifically, tVegT, tMixer, tMix, tBix, tGata6, tSox17alpha, tSox17beta, tFoxA1, tHex, and tCerberus, which lack the redundant copies that are found in laevis. In situ hybridization analysis has revealed identical expression patterns between the orthologous tropicalis and laevis endoderm genes, thus suggesting conserved genetic functions. Furthermore, we noted that the smaller tropicalis embryos gave better probe penetration than in laevis whole-mount in situ hybridizations-allowing us to visualize transcripts in the deep endoderm in tropicalis, which is difficult in laevis. This study illustrates how an entire genetic pathway can be quickly transferred from laevis to tropicalis due to high sequence conservation between the sister species and the large number of tropicalis-expressed sequence tags that are now available.

Techniques and probes for the study of Xenopus tropicalis development.

The frog Xenopus laevis has provided significant insights into developmental and cellular processes. However, X. laevis has an allotetraploid genome precluding its use in forward genetic analysis. Genetic analysis may be applicable to Xenopus (Silurana) tropicalis, which has a diploid genome and a shorter generation time. Here, we show that many tools for the study of X. laevis development can be applied to X. tropicalis. By using the developmental staging system of Nieuwkoop and Faber, we find that X. tropicalis embryos develop at similar rates to X. laevis, although they tolerate a narrower range of temperatures. We also show that many of the analytical reagents available for X. laevis can be effectively transferred to X. tropicalis. The X. laevis protocol for whole-mount in situ hybridization to mRNA transcripts can be successfully applied to X. tropicalis without alteration. Additionally, X. laevis probes often work in X. tropicalis--alleviating the immediate need to clone the X. tropicalis orthologs before initiating developmental studies. Antibodies that react against X. laevis proteins can effectively detect the X. tropicalis protein by using established immunohistochemistry procedures. Antisense morpholino oligonucleotides (MOs) offer a new alternative to study loss of gene activity during development. We show that MOs function in X. tropicalis. Finally, X. tropicalis offers the possibility for forward genetics and genomic analysis.