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Caregivers of children with autism spectrum disorder (ASD) may find it difficult to feel a sense of control and to cope with the overall physical and emotional demands of caring for their child. While caregivers are able to successfully cope with a high level of stress, there are limits to their resources and abilities to cope over time. Genetic counselors working with affected families may be able to help parents more effectively manage stress related to the disorder. Few short-term interventions have been reported in genetic counseling yet implementation of evidence-based examples may be achievable. This study aimed to assess the feasibility of a coping effectiveness training (CET) intervention designed to enhance coping self-efficacy (CSE) among caregivers of children with ASD, with the eventual goal of translating this intervention into genetic counseling practice. A randomized treatment-control design was used to investigate the feasibility of an intervention using CET among caregivers of children with ASD. The primary outcome was the feasibility of the intervention; the secondary outcome was improvements in CSE in the intervention group as compared to the control group. Caregivers were recruited and randomized into the treatment (n=15) or control (n=13) groups. Of these, 22 completed the study (retention: 78.6%). The intervention was highly feasible; most caregivers found the CET helpful, practical, useful, and relatively easy to attend. The treatment group demonstrated significantly increased CSE from pre-intervention to post-intervention (p=0.02). Between group differences were not significant when comparing the pre-post changes. We provide preliminary evidence that CET may be beneficial to caregivers of children with ASD. The results of this feasibility study support development of a phase II study of this intervention in a larger cohort, aimed to be implemented into a genetic counseling setting. [ABSTRACT FROM AUTHOR]

Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling difficult and potentially hindering optimal treatment. Here, we describe the analysis of a 46,XY DSD patient that presented at birth with ambiguous genitalia. Histological analysis of the surgically removed gonads showed bilateral undifferentiated gonadal tissue and immature testis, both containing malignant germ cells. We screened genomic DNA from this patient for deletions and duplications using an Illumina whole-genome SNP microarray. This analysis revealed a heterozygous deletion within the WWOX gene on chromosome 16, removing exons 6-8. Analysis of parental DNA showed that the deletion was inherited from the mother. cDNA analysis confirmed that the deletion maintained the reading frame, with exon 5 being spliced directly onto exon 9. This deletion is the first description of a germline rearrangement affecting the coding sequence of WWOX in humans. Previously described Wwox knockout mouse models showed gonadal abnormalities, supporting a role for WWOX in human gonad development. [ABSTRACT FROM AUTHOR]

Purpose: A proportion of people with palliative care needs unknowingly have a genetic predisposition to their disease, placing relatives at increased risk. As end-of-life nears, the opportunity to address genetics for the benefit of their family narrows. Clinicians face numerous barriers addressing genetic issues, but there is limited evidence from the palliative care clinician perspective. Our aims are to (1) explore the views and experiences of palliative care clinicians in addressing genetics with patients and their families and (2) generate suggested strategies that support integration of genetics into palliative care. Methods: An interpretive descriptive qualitative study using semi-structured interviews with palliative care doctors and nurses (N = 14). Results: Three themes were identified: (1) Harms and benefits of raising genetics: a delicate balancing act, (2) Navigating genetic responsibility within the scope of palliative care and (3) Overcoming practice barriers: a multipronged approach. Participants described balancing the benefits of addressing genetics in palliative care against potential harms. Responsibility to address genetic issues depends on perceptions of relevance and the scope of palliative care. Suggestions to overcome practice barriers included building genetic-palliative care relationships and multi-layered genetics education, developing clinical resources and increasing organisational support. Conclusions: Integrating aspects of genetics is feasible, but must be balanced against potential harms and benefits. Palliative care clinicians were uncertain about their responsibility to navigate these complex issues to address genetics. There are opportunities to overcome barriers and tailor support to ensure people nearing end-of-life have a chance to address genetic issues for the benefit of their families. [ABSTRACT FROM AUTHOR]

Background: Conversations about prognosis for genetic neurodevelopmental conditions are becoming more frequent; however, there is a lack of evidence and guidance on how to approach these conversations and frame the information being provided., Objective: (1) To understand how parents perceive prognostic conversations with healthcare professionals and their preferences for these conversations, (2) To investigate the framing of prognostic information found online., Methods: This was a mixed-methods study, comprising of (1) a thematic analysis of interviews with parents and (2) a quantification of prognostic information available on the internet that portrayed a negative message. The strategy to classify the framing of prognostic information was defined iteratively, informed by the information found online., Results: We interviewed 32 parents from across Australia. Parents had a child with a genetic neurodevelopmental condition, such as Fragile X syndrome (28 %), 22q11.2 deletion syndrome (16 %) or Angelman syndrome (16 %). Parents reported their preference to discuss their child's potential strengths as well as challenges regarding prognosis. They reported that conversations about prognosis often focused on the child's possible deficits and that online information they encountered was similarly framed negatively. Our analysis of online information confirmed parents accounts: 95.3 % was coded as negative, while only 4.7 % was positive/neutral., Conclusions: Our data provide evidence of an over-emphasis of deficit-framed prognostic information about genetic neurodevelopmental conditions. The initial exposure to negative information may adversely affect parents' psychological well-being and expectations, which future research could address. Health professionals could consider strengths-based framing of prognostic information gained from current and emerging technologies when returning results to families. Findings from this study can help to inform health communication practices as well as online content development., Competing Interests: Declaration of competing interest The authors have no conflicts of interest to disclose., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

The demand for direct-to-patient (DTP) telegenetics (genetics services delivered via videoconferencing) in genetic counseling practice has rapidly increased, particularly since the COVID-19 pandemic. Recent telegenetics literature is mostly quantitative and not in the Australian context. A qualitative interview study was conducted to address this gap. This research investigated the experiences of patients and genetic counselors (GCs), enrolled in a randomized controlled trial, using telegenetics and telephone for cancer genetic counseling appointments. Twenty-eight semi-structured interviews with patients (n = 22) and GCs (n = 6) were conducted following patient randomization to either a telephone or telegenetics genetic counseling appointment. The interviews explored participant's experiences of telegenetics and compared DTP telegenetics with telephone and in-person delivery. Codebook thematic analysis was used to develop topic summaries from the data. Patient and GC participants noted positive experiences of telegenetics; with key benefits reported as reduced travel time, time and cost saving, ease, convenience, efficiency, and comfortability. Technical issues and privacy concerns were highlighted as potential disadvantages of telegenetics. All but one patient felt sufficiently emotionally supported while using telegenetics. Telegenetics has both benefits and limitations; however, generally, this cohort found telegenetics to be a suitable and acceptable mode of delivery for genetic counseling with many advantages over in-person or telephone appointments. Further studies should be conducted to provide evidence for the long-term implementation of telegenetics, regardless of any future COVID-19 pandemic lockdown restrictions., (© 2024 The Author(s). Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)

Studies on the use of Race, Ethnicity, and Ancestry (REA) concepts and terms in genetic research are limited. We aimed to describe the collection, reporting, and use of REA data in genetic counseling research. We undertook a focused mapping review and synthesis of the Journal of Genetic Counseling 2021 publications. We used a mapping proforma based on the Race, Ethnicity, And Culture in Health checklist to extract data. Of the 177 screened articles, 132 met our inclusion criteria of reporting primary data about participants. The sample REA characteristics were described in 80 (61%) articles, with 6% providing a definition or conceptualization of the REA term/s used and 23% including a rationale for their study in terms of REA factors. Group labels were most often reported using population descriptors, such as "race," "ethnicity," "race/ethnicity," and "ancestry." Several group labels were used under different population descriptors. For instance, the group labels "White" and "Asian" were used under all population descriptors. Most studies (79%) ascertained REA characteristics by participants' self-report. Three (15%) of the 20 qualitative studies mentioned the relevance of the interviewers' REA characteristics in relation to the participants' REA characteristics. Of the 55 quantitative studies, 19 (35%) used REA factors in the data analysis. Of the 80 articles describing the sample REA characteristics, 20% referred moderately or a great deal to any REA factors in the results interpretation, 46% acknowledged the REA factors in the study limitations, and 15% discussed the implications of REA reporting for genetic counseling practice. Our review documents extensive variation in how sample REA characteristics are described and used in genetic counseling research. Our findings provide a baseline against which to evaluate the effects of guidelines and recommendations for the collection, responsible use, and report of participants' REA characteristics in genetic counseling research., (© 2024 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)

Genetic counselling and testing have utility for people with palliative care needs and their families. However, genetic and palliative care health professionals have described difficulties initiating palliative-genetic discussions. Between March and July 2022, we received n = 73 surveys (6% response rate) from genetic and palliative care health professionals in Australia and New Zealand that assessed and compared barriers and facilitators. The main perceived barrier to both groups was palliative care health professionals' lack of genetic knowledge (44%). Most palliative care health professionals were 'not at all confident' performing several activities, including discussing DNA banking (52%) and knowing their legal responsibilities when sharing genetic information (58%). The most frequently selected facilitator for genetic health professionals was fostering close relationships with palliative care health professionals (52%), while palliative care health professionals indicated a genetic referral template (51%) would be of assistance. Almost all participants agreed genetic discussions do not undermine the central ethos of palliative care (87%). Fewer palliative care health professionals considered themselves well situated to have genetic discussions with a palliative patient's family compared to genetic health professionals (p = 0.014). Our results suggest that genetic and palliative care health professionals support integrating genetics into palliative care, although refinement of the palliative care health professionals' role in this process is required. We have identified intervention targets to overcome barriers related to knowledge and confidence, which ought to be integrated into future interventions designed to support health professionals deliver the benefits of genetic information to people with palliative care needs and their families., (© 2023. The Author(s).)

Purpose: We aimed to adapt and validate an existing patient-reported outcome measure, the personal-utility (PrU) scale, for use in the pediatric genomic context., Methods: We adapted the adult version of the PrU and obtained feedback from 6 parents whose child had undergone sequencing. The resulting measure, the Parent PrU, was administered to parents of children in 4 pediatric cohorts of the Clinical Sequencing Evidence-Generating Research consortium after they received their children's genomic results. We investigated the measure's structural validity and internal consistency., Results: We conducted a principal-axis factor analysis with oblimin rotation on data from 755 participants to determine structural validity. These analyses yielded a 3-factor solution, accounting for 76% of the variance in the 16 items. We used Cronbach's α to assess the internal consistency of each factor: (1) child benefits (α = .95), (2) affective parent benefits (α = .90), and (3) parent control (α = .94)., Conclusion: Our evidence suggests that the Parent PrU scale has potential as a measure for assessing parent-reported personal utility of their children's genomic results. Additional research is needed to further validate the Parent PrU scale, including by comparing its findings with utility assessments reported by clinicians and children themselves., Competing Interests: Conflict of Interest The authors declare no conflicts of interest., (Copyright © 2023 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.)

Genetic information can provide clinical benefits to families of palliative patients. However, integration of genetics into mainstream medicine has not focused on palliative populations. We explored the views and experiences of genetic health professionals in addressing genetics with palliative patients, and their families. We conducted an interpretive descriptive qualitative study with genetic counsellors and clinical geneticists using interviews and focus groups. Findings were generated using reflexive thematic analysis. Three themes were identified: (1) Focusing on the benefit to the family, (2) The discomfort of addressing genetics near end-of-life and (3) "It's always on the back-burner": Challenges to getting genetics on the palliative care agenda. Participants discussed the familial benefit of genetics in palliative care alongside the challenges when patients are near end-of-life. They perceived genetics as low priority for palliative care due to misunderstandings related to the value of genetic information. Acknowledging the challenges in the palliative care context, genetic health professionals want improved service leadership and awareness of the familial benefits of palliative genetic testing. Strong leadership to support genetic health professionals in addressing these barriers is needed for the benefits of genetic information to be realised., (© 2022. The Author(s).)

Background: Medical decisions parents make on their children's behalf can be challenging. Free online decision support tools are created to help parents faced with these decisions., Objective: We used an environmental scan to identify free, online tools that support parents in making decisions about their children's chronic health condition. We described the tools and assessed their potential to harm, content, development process, readability, and whether their use changed decision makers' knowledge and alignment of their preferences with their final decision., Data Sources and Eligibility: Decision aid repositories, Google searches, and key informants identified decision support tools. Eligible tools were freely available online and for parents of children with chronic health conditions., Appraisal Methods: Two reviewers independently assessed the tools' quality based on the International Patient Decision Aid Standards (IPDAS). Tool readability was assessed using the Flesch Reading Ease test., Results: From 21 free, online decision support tools, 14 (67%) provided sufficient detail for making a specific decision (IPDAS qualifying criteria). None sufficiently met IPDAS certification criteria necessary to reduce the possibility of patient harms when using the tool. Three (14%) were fairly easy or easy to read. Of those evaluated by developers (n = 6), 2 improved knowledge and 4 improved alignment of preferences with the available options., Limitations: Google searches and key informant sources are not replicable., Conclusions: Free, online decision support tools for parents of children with chronic health conditions are of variable quality, most are difficult to read, and there is limited evidence their use achieves intended outcomes., Registration Number: Registered with Open Science Framework 20 July 2021(AEST) osf.io/b94yj., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)

Purpose: People report experiencing value from learning genomic results even in the absence of clinically actionable information. Such personal utility has emerged as a key concept in genomic medicine. The lack of a validated patient-reported outcome measure of personal utility has impeded the ability to assess this concept among those receiving genomic results and evaluate the patient-perceived value of genomics. We aimed to construct and psychometrically evaluate a scale to measure personal utility of genomic results-the Personal Utility (PrU) scale., Methods: We used an evidence-based, operational definition of personal utility, with data from a systematic literature review and Delphi survey to build a novel scale. After piloting with 24 adults, the PrU was administered to healthy adults in a Clinical Sequencing Evidence-Generating Research Consortium study after receiving results. We investigated the responses using exploratory factor analysis., Results: The exploratory factor analysis (N = 841 participants) resulted in a 3-factor solution, accounting for 74% of the variance in items: (1) self-knowledge (α = 0.92), (2) reproductive planning (α = 0.89), and (3) practical benefits (α = 0.91)., Conclusion: Our findings support the use of the 3-factor PrU to assess personal utility of genomic results. Validation of the PrU in other samples will be important for more wide-spread application., Competing Interests: Conflict of Interest The authors declare no conflict of interest., (Copyright © 2022 American College of Medical Genetics and Genomics. All rights reserved.)

Objective: Decision aids have been developed to help prospective parents make informed, shared decisions about medical tests, but these options are rapidly changing. This study aimed to identify and evaluate publicly available decision aids written in English for prospective parents seeking prenatal test information., Methods: A systematic review process was followed using 3 sources: known decision aid repositories, fetal medicine organisations and Google. The search, screening process, quality assessment, and data extraction was performed by two independent researchers. The quality assessment of the decision aids was based on the International Patient Decision Aids Standards (IPDAS v.4.0)., Results: We identified 13 decision aids, which varied in the screening and diagnostic tests that they discussed. No decision aid met all the IPDAS v.4.0. criteria and no decision aid reported updated risk of miscarriage for amniocentesis and chorionic villus sampling (CVS). There was a lack of decision aids for some common decisions in the prenatal context., Conclusion: We identified outdated content in current prenatal decision aids. The findings will inform healthcare professionals of the quality of current prenatal decision aids, which may facilitate their patients' informed decision-making about prenatal tests., Innovation: Considerations for improving future decision aids are outlined., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2022 Published by Elsevier B.V.)

Although romantic couple concordance has been demonstrated across a wide array of health behaviors, little research has examined dyadic concordance in health beliefs. This study examined the extent to which cohabitating romantic dyads' attitudes and beliefs coincide (i.e., dyadic concordance) in addition to how well they predict intentions to learn genomic sequencing results. The actor-partner interdependence model was applied to cross-sectional data from 81 dyads in an exome sequencing study who were surveyed about their risk perceptions, worry, information avoidance, attitudes, and intentions toward learning carrier results. Information avoidance tendencies were positively correlated between partners, but there was low concordance on other beliefs. Individuals' attitudes and information avoidance predicted their own intentions to learn results. Additionally, partners' information avoidance tendencies predicted their partner's intentions to learn results. Future research should explore mechanisms through which one's partner's information avoidance may affect one's own intentions and behaviors., (© 2021. This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply.)

An expansion in the availability of clinical drug trials for genetic neurodevelopmental conditions is underway. Delineating patient priorities is key to the success of drug development and clinical trial design. There is a lack of evidence about parent decision-making in the context of clinical drug trials for genetic neurodevelopmental conditions. We assessed parents' priorities when making a decision whether to enroll their child with fragile X syndrome (FXS) in a clinical drug trial. An online survey included a best-worst scaling method for parents to prioritize motivating and discouraging factors for child enrollment. Parents were recruited through the National Fragile X Foundation and FRAXA. Sequential best-worst with conditional logit analysis was used to determine how parents prioritize motivating and discouraging factors about trial enrollment decisions. Respondents (N = 354) were largely biological mothers (83%) of an individual with FXS who ranged in age from under 5 to over 21 years. The highest motivating factor was a trial to test a drug targeting the underlying FXS mechanism (coeff = 3.28, p < 0.001), followed by the potential of the drug to help many people (coeff = 3.03, p < 0.001). Respondents rated requirement of blood draws (coeff = -3.09, p < 0.001), loss of access to the drug post trial (coeff = -3.01, p < 0.001), and drug side effects (coeff = -2.96, p < 0.001) as most discouraging. The priorities defined by parents can be incorporated into evidence-based trial design and execution to enhance the enrollment process., (© 2021. This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply 2021.)

This paper uses consumer health informatics as a framework to explore whether and how direct-to-consumer personal genomic testing can be regarded as a form of information which assists consumers to manage their health. It presents findings from qualitative content analysis of web sites that offer testing services, and of transcripts from focus groups conducted as part a study of the Australian public's expectations of personal genomics. Content analysis showed that service offerings have some features of consumer health information but lack consistency. Focus group participants were mostly unfamiliar with the specifics of test reports and related information services. Some of their ideas about aids to knowledge were in line with the benefits described on provider web sites, but some expectations were inflated. People were ambivalent about whether these services would address consumers' health needs, interests and contexts and whether they would support consumers' health self-management decisions and outcomes. There is scope for consumer health informatics approaches to refine the usage and the utility of direct-to-consumer personal genomic testing. Further research may focus on how uptake is affected by consumers' health literacy or by services' engagement with consumers about what they really want.

Multiplex Ligation-dependent Probe Amplification (MLPA) is a PCR-based technique that was developed for identifying deletions and duplications in genomic DNA. The simplicity and sensitivity of this approach has led to it being implemented in many laboratories around the world. Since the original publication, there have been several variants of MLPA described, allowing the quantitative analysis of mRNA transcript levels, CpG methylation, complex genomic regions, and DNaseI hypersensitive sites. This chapter outlines the basic MLPA protocol, describes the different modifications and applications that have been published, and discusses the critical points during each of the steps.