Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review.

Genetic and genomic technologies can effectively diagnose numerous genetic disorders. Patients benefit when genetic counselling accompanies genetic testing and international guidelines recommend pre- and post-test genetic counselling with genome-wide sequencing. However, there is a gap in knowledge regarding the unique genetic counselling considerations with different types of genetic testing in the Neonatal Intensive Care Unit (NICU) and the Pediatric Intensive Care Unit (PICU). This scoping review was conducted to identify the gaps in care with respect to genetic counselling for infants/pediatric patients undergoing genetic and genomic testing in NICUs and PICUs and understand areas in need of improvement in order to optimize clinical care for patients, caregivers, and healthcare providers. Five databases (MEDLINE [Ovid], Embase [Ovid], PsycINFO [Ebsco], CENTRAL [Ovid], and CINHAL [Ebsco]) and grey literature were searched. A total of 170 studies were included and used for data extraction and analysis. This scoping review includes descriptive analysis, followed by a narrative account of the extracted data. Results were divided into three groups: pre-test, post-test, and comprehensive (both pre- and post-test) genetic counselling considerations based on indication for testing. More studies were conducted in the NICU than the PICU. Comprehensive genetic counselling was discussed in only 31% of all the included studies demonstrating the need for both pre-test and post-test genetic counselling for different clinical indications in addition to the need to account for different cultural aspects based on ethnicity and geographic factors.

Exploring genetic counselors' experiences with non-paternity in clinical settings.

Non-paternity (NP) is a challenging dilemma faced by genetics providers and there is little consensus on whether this finding should be disclosed. Discussions in the literature are highly theoretical, with limited research regarding how disclosure decisions are enacted in practice. We explored genetic counselors' (GCs) clinical experiences with NP to understand if, how, and why this finding is communicated. Our semi-structured interviews with genetic counselors in the United States and Canada were analyzed using reflexive thematic analysis to analyze data inductively, describe themes, and present a meaningful interpretation of the data. Eighteen participants who responded to list-serv messages were interviewed. Our framework describes five salient themes: (1) GC-lab relationship: the GCs awareness of laboratory processes such as quality control metrics that can uncover NP findings and the way in which a finding of NP was disclosed by the laboratory had an impact on disclosure decisions. This triggered a decision-making trajectory that involved (2) consultation, (3) ethical reasoning, and (4) practical constraints. GCs frequently consulted other professionals during decision-making. These conversations impacted disclosure decisions with some consultations carrying greater weight than others. GCs weighed moral concepts of patient autonomy, medical relevance, and preventing harm to rationalize decisions. Access to patients and documentation requirements often dictated how disclosure occurred. Finally, once a decision had been made and enacted, GCs used the experience to reconsider their approach to (5) consenting in future cases, with some GCs altering their pre-test counseling to always include a discussion of NP. Although NP scenarios are frequently unique in context, our findings demonstrate several common decision-making factors GCs harness to navigate the identification of NP through clinical genetic testing.

Cascade testing for inherited arrhythmia conditions: Experiences and attitudes of family communication approaches for a Canadian cohort.

Inherited arrhythmia conditions (IAC) can lead to sudden cardiac death at any age, and relatives of an affected person have up to a 50% chance of inheriting the condition and are at risk for developing features. Cascade testing is a stepwise approach for identifying relatives at risk for IACs through clinical screening and genetic testing. Early detection can reduce morbidity and mortality for affected individuals and determine potential risk mitigation strategies for relatives. However, cardiovascular genetic studies have reported an incomplete uptake of cascade testing in at-risk relatives. We explored patient perspectives on cascade testing for IACs and alternative approaches to family communication. Twelve semi-structured phone interviews were conducted with probands of the British Columbia Inherited Arrhythmia Program confirmed to carry a pathogenic or likely pathogenic variant in a gene associated with an IAC. Thematic analysis of transcripts through an iterative coding process revealed five main themes: (a) a stepwise approach is followed in disclosing risk to relatives, (b) relatives' autonomy in cascade testing is supported, (c) lived experience with the condition influences disclosure and uptake of cascade testing, (d) collaborative approach to informing relatives reduces negative impact of disclosure, and (e) direct contact from a healthcare provider is viewed as acceptable. The findings highlight this patient cohort's experiences and opinions with approaches to disclosure and demonstrate their understanding and acceptance of their relatives' approaches to cascade testing. In addition, while the notion of direct contact was generally accepted, a collaborative approach to contacting relatives between the proband and provider may be most effective.

Conditions for shared decision making in the care of transgender youth in Canada.

Information is lacking on the role shared decision making plays in the care of transgender (trans) youth. This qualitative, descriptive study explored how trans youth, parents and health care providers engaged or did not engage in shared decision-making practices around hormone therapy initiation and what conditions supported shared decision-making approaches in clinical practice. Semi-structured interviews were conducted with 47 participants in British Columbia, Canada, and analyzed using a constructivist grounded theory approach. While formal shared decision-making models were not used in practice, many participants described elements of such approaches when asked about their health care decision-making processes. Others described health care interactions that were not conducive to a shared decision-making approach. The key finding that emerged through this analysis was a set of five conditions for supporting shared decision making when making decisions surrounding initiation of hormone therapy with trans youth. Both supportive relationships and open communication were necessary among participants to support shared decision making. All parties needed to agree regarding what decisions were to be made and what role each person would play in the process. Finally, adequate time was needed for decision-making processes to unfold. When stakeholders meet these five conditions, a gender-affirming and culturally safer shared decision-making approach may be used to support decision making about gender-affirming care. Implications for clinical practice and future research are discussed.

Human Germline Genome Editing.

With CRISPR/Cas9 and other genome-editing technologies, successful somatic and germline genome editing are becoming feasible. To respond, an American Society of Human Genetics (ASHG) workgroup developed this position statement, which was approved by the ASHG Board in March 2017. The workgroup included representatives from the UK Association of Genetic Nurses and Counsellors, Canadian Association of Genetic Counsellors, International Genetic Epidemiology Society, and US National Society of Genetic Counselors. These groups, as well as the American Society for Reproductive Medicine, Asia Pacific Society of Human Genetics, British Society for Genetic Medicine, Human Genetics Society of Australasia, Professional Society of Genetic Counselors in Asia, and Southern African Society for Human Genetics, endorsed the final statement. The statement includes the following positions. (1) At this time, given the nature and number of unanswered scientific, ethical, and policy questions, it is inappropriate to perform germline gene editing that culminates in human pregnancy. (2) Currently, there is no reason to prohibit in vitro germline genome editing on human embryos and gametes, with appropriate oversight and consent from donors, to facilitate research on the possible future clinical applications of gene editing. There should be no prohibition on making public funds available to support this research. (3) Future clinical application of human germline genome editing should not proceed unless, at a minimum, there is (a) a compelling medical rationale, (b) an evidence base that supports its clinical use, (c) an ethical justification, and (d) a transparent public process to solicit and incorporate stakeholder input.

National Society of Genetic Counselors Code of Ethics: Explication of 2017 Revisions.

The Code of Ethics (COE) of the National Society of Genetic Counselors (NSGC) was adopted in 1992 and was later revised and adopted in 2006. In 2016, the NSGC Code of Ethics Review Task Force (COERTF) was convened to review the COE. The COERTF reviewed ethical codes written by other professional organizations and suggested changes that would better reflect the current and evolving nature of the genetic counseling profession. The COERTF received input from the society's legal counsel, Board of Directors, and members-at-large. A revised COE was proposed to the membership and approved and adopted in April 2017. The revisions and rationale for each are presented.

The Human Microbiome and Public Health: Social and Ethical Considerations.

Rapid advances in human microbiome research point to an increasing range of health outcomes related to the composition of an individual's microbiome. To date, much research has focused on individual health, with a paucity of attention to public health implications. This is a critical oversight owing to the potentially shared nature of the human microbiome across communities and vertical and horizontal mechanisms for transferring microbiomes among humans. We explored some key ethical and social implications of human microbiome research for public health. We focused on (1) insights from microbiome research about damage to individual and shared microbiomes from prevalent societal practices, and (2) ethical and social implications of novel technologies developed on the basis of emerging microbiome science.

Ethical considerations in biobanks: how a public health ethics perspective sheds new light on old controversies.

Biobanks, collections of biospecimens with or without linked medical data, have increased dramatically in number in the last two decades. Their potential power to identify the underlying mechanisms of both rare and common disease has catalyzed their proliferation in the academic, medical, and private sectors. Despite demonstrated public support of biobanks, some within the academic, governmental, and public realms have also expressed cautions associated with the ethical, legal, and social (ELSI) implications of biobanks. These issues include concerns related to the privacy and confidentiality of data; return of results and incidental findings to participants; data sharing and secondary use of samples; informed consent mechanisms; ownership of specimens; and benefit sharing (i.e., the distribution of financial or other assets that result from the research). Such apprehensions become amplified as more researchers seek to pursue national and cross-border collaborations between biobanks. This paper provides an overview of two of the most contentious topics in biobank literature - informed consent and return of individual research results or incidental findings - and explores how a public health ethics lens may help to shed new light on how these issues may be best approached and managed. Doing so also demonstrates the important role that genetic counselors can play in the ongoing discussion of ethically appropriate biobank recruitment and management strategies, as well as identifies important areas of ongoing empirical research on these unresolved topics.

Clinical care for severe and persistent eating disorders in pediatric populations: Perspectives of health professionals.

OBJECTIVE: Models of treatment for adults with severe and enduring eating disorders focus on harm reduction and improving quality of life. However, there is a notable gap in the pediatric literature in this area. The current study set out to assess the perspectives of health professionals regarding clinical care for young people (e.g., ages 10-25 years) with severe and enduring eating disorders, and to explore perceptions about appropriate treatment options for these presentations. METHODS: Health professionals were invited to complete a two-stage online survey about their experiences with clinical care for pediatric eating disorders through Canadian and Australian professional eating disorder networks. Survey 1 included questions about their experiences in supporting individuals with severe and enduring presentations. Participants who completed Survey 2 reviewed clinical vignettes and shared their perspectives about treatment recommendations and models of care, including for a severe and enduring presentation. RESULTS: A total of 85 clinicians responded to questions on Survey 1 about severe and enduring eating disorder presentations. A portion of these respondents (n = 25) also participated in Survey 2. The majority of respondents to Survey 1 reported providing clinical care for pediatric severe and enduring eating disorder presentations. Amongst respondents to Survey 2, there was low consensus amongst respondents for the clinical care that would be most appropriate for young people with a severe and enduring eating disorder presentation. Numerous challenges in models of care for severe and enduring presentations in pediatric settings were raised in responses on Survey 2, with clinicians sharing their awareness of models focusing on quality of life, while also raising concerns about the appropriateness of these models for young people. CONCLUSIONS: The preliminary results of this study demonstrate that the majority of clinicians report that they have provided care to young people with severe and enduring presentations. There is a clear need for establishing guidance for clinicians working in pediatric eating disorder settings around models of care focused on quality of life. Engagement with interested parties, including those with lived experience, can clarify the development of terminology and clinical pathways for severe and enduring presentations of pediatric eating disorders.

Treatment models focusing on harm reduction and quality of life (as opposed to eating disorder recovery) are available for adults with severe and enduring eating disorders. However, these models are not widely available for young people. In fact, there is very limited research on severe and enduring eating disorder presentations in pediatric populations. We assessed the views of health professionals regarding clinical care for young people with severe and enduring eating disorder presentations, and asked professionals about what treatment options might be most appropriate for these presentations. Most participants reported providing clinical care for pediatric severe and enduring eating disorder presentations. However, clinicians had diverse views about the treatment that would be most appropriate for a severe and enduring eating disorder presentation in a young person. Further research and engagement with clinicians and those with lived experience is needed to clarify the terminology and clinical pathways for severe and enduring presentations of pediatric eating disorders.

Navigating the Landscape of Medical Device Advisories: A Special Report From the Canadian Heart Rhythm Society Device Advisory Committee.

Cardiac implantable electronic devices (CIEDs) are often important for regulating cardiac rate and rhythm. Pacemakers and defibrillators are among the top 10 most implanted medical devices, with > 1.5 million devices implanted annually. Although millions of patients have benefited with improved quality of life and survival, CIED systems are becoming increasingly complex and do not always perform according to expectations. Advisory notices communicate important information about the safety and performance of a medical device to health care providers and patients. Medical device recalls are common, with > 35 unique device recalls in the past 5 years. From an ethical standpoint, CIED recalls highlight a range of considerations including the consent process, duty to report, how best to promote autonomous decision-making, trust in the health care system, as well as disproportionate effects of these considerations on equity-deserving groups. The purpose of the current article is to review and advise regarding the process around medical device advisory and recall, with a specific focus on clinicians caring for patients affected by these devices. We have sought the input of a lawyer, a patient advocacy group, and an ethicist to guide the clinical management of, and communications regarding, device recalls and advisories. Diligent surveillance and a clear, transparent patient consent process regarding these small but potentially serious device anomalies is paramount in ensuring patients believe they are safe and informed. Meaningful patient engagement helps to ensure optimal communication and disclosure mechanisms before implantation and throughout follow-up, accessibility of information in the initial implant and recall action process, and trust in health care systems and providers.

Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.

The role for routine whole genome and transcriptome analysis (WGTA) for poor prognosis pediatric cancers remains undetermined. Here, we characterize somatic mutations, structural rearrangements, copy number variants, gene expression, immuno-profiles and germline cancer predisposition variants in children and adolescents with relapsed, refractory or poor prognosis malignancies who underwent somatic WGTA and matched germline sequencing. Seventy-nine participants with a median age at enrollment of 8.8 y (range 6 months to 21.2 y) are included. Germline pathogenic/likely pathogenic variants are identified in 12% of participants, of which 60% were not known prior. Therapeutically actionable variants are identified by targeted gene report and whole genome in 32% and 62% of participants, respectively, and increase to 96% after integrating transcriptome analyses. Thirty-two molecularly informed therapies are pursued in 28 participants with 54% achieving a clinical benefit rate; objective response or stable disease ≥6 months. Integrated WGTA identifies therapeutically actionable variants in almost all tumors and are directly translatable to clinical care of children with poor prognosis cancers.

Developing a comprehensive, effective patient-friendly website to enhance decision making in predictive testing for Huntington disease.

PURPOSE: Predictive testing for Huntington disease is a complex decision, requiring in-depth counseling, education, and evaluation. Despite the growth in Web-based decision aids and educational resources, such tools for those considering Huntington disease testing are not available. The main objective of this project was to develop a patient-friendly, comprehensive, accessible Web-based tool to provide accurate information about testing for Huntington disease. METHODS: A semistructured interview study was conducted to determine the informational, educational, and support needs of those considering Huntington disease testing. A dedicated predictive testing website was subsequently developed and pilot tested. RESULTS: The interview study revealed that an effective website should include interactive diagrams, video documentaries, and personal stories of others who had considered testing. The pilot test revealed that the multidimensional site was easy to navigate and understand and provided an accurate, unbiased overview of the important factors to be considered before undergoing predictive testing. CONCLUSION: This project demonstrates the use of a mixed-method approach to develop the first tailored website dedicated to predictive testing for Huntington disease. Such an approach enabled the development of a comprehensive, accurate, and effective educational tool that supports informed decision making for people considering predictive testing for Huntington disease in an accessible, nonthreatening manner.

Exploring the Ethical Considerations of Direct Contact in Pediatric Organ Transplantation: A Qualitative Study.

BACKGROUND: Nonanonymized direct contact between organ recipients and donor families is a topic of international interest in the adult context. However, there is limited discussion about whether direct contact should be extended to pediatric settings due to clinician and researcher concerns of the potential harms to pediatric patients. METHODS: We interviewed pediatric organ recipients, their families, and donorfamilies in British Columbia, Canada, to determine their views on direct contact. Interviews were conducted in two stages, with those who were further removed from the transplant process informing the approach to interviews with those who more recently went throughthe transplant process. RESULTS: Twenty-nine individuals participated in twenty in-depth interviews. The study included participants from three major organ systems: kidney, heart, and liver. Only five participants expressed that direct contact might cause harm or discomfort, while twenty-three indicated they saw significant potential for benefits. Nearly half focused on the harms to others rather than themselves, and nearly two-thirds focused on the benefits for others rather than themselves. CONCLUSION: There appears to be a community desire for direct contact in pediatric organ transplant programs among those living in British Columbia, Canada. These results suggest a need to revisit the medical community's assumptions around protection and paternalism in our practice as clinicians and researchers.

COVID-19 Outbreak: Understanding Moral-Distress Experiences Faced by Healthcare Workers in British Columbia, Canada.

Pandemic-management plans shift the care model from patient-centred to public-centred and increase the risk of healthcare workers (HCWs) experiencing moral distress (MD). This study aimed to understand HCWs' MD experiences during the COVID-19 pandemic and to identify HCWs' preferred coping strategies. Based on a qualitative research methodology, three surveys were distributed at different stages of the pandemic response in British Columbia (BC), Canada. The thematic analysis of the data revealed common MD themes: concerns about ability to serve patients and about the risks intrinsic to the pandemic. Additionally, it revealed that COVID-19 fatigue and collateral impact of COVID-19 were important ethical challenges faced by the HCWs who completed the surveys. These experiences caused stress, anxiety, increased/decreased empathy, sleep disturbances, and feelings of helplessness. Respondents identified self-care and support provided by colleagues, family members, or friends as their main MD coping mechanisms. To a lesser extent, they also used formal sources of support provided by their employer and identified additional strategies they would like their employers to implement (e.g., improved access to mental health and wellness resources). These results may help inform pandemic policies for the future.

Experiences With Genetic Counseling, Testing, and Diagnosis Among Adolescents With a Genetic Condition: A Scoping Review.

Importance: The number of adolescents who are diagnosed with a genetic disorder is increasing as genome sequencing becomes the standard of clinical diagnostic testing. However, the experience of receiving a diagnosis of a genetic condition has not been extensively studied in adolescents. Objective: To identify how adolescents with a genetic condition engage with genetic or genomic counseling services as well as interpret, adapt to, and experience their diagnosis. Evidence Review: A literature search of MEDLINE, Embase, CINAHL, and PsycINFO was undertaken. Articles (primary literature, knowledge syntheses, and gray literature) in English that investigated the experiences of adolescents between 10 and 19 years of age who received genetic or genomic counseling were included. Data were extracted from 45 eligible articles and analyzed descriptively. Findings: A total of 45 studies were included, most of which were quantitative in nature (21 of 45 [47%]) and conducted in the US (n = 13), followed by the UK (n = 8), Australia (n = 8), and Canada (n = 6). A total of 29 distinct monogenic disorders were investigated. Sample sizes ranged from 1 to 930, with a median of 23 participants, and the year of publication ranged from 1977 to 2019. Included studies addressed all aspects of genetic counseling, but a preponderance of articles assessed knowledge about genetic conditions (n = 17) and challenges of communication within families (n = 16). Fewer articles addressed the experiences of adolescents adapting to their genetic conditions (n = 8) and the genetic counseling process (n = 4). Only 1 study addressed any aspect of genetic counseling in relation to genome sequencing. Conclusions and Relevance: This scoping review found that most of the included studies focused on adolescents' knowledge about their genetic condition and communication about genetic risks, whereas fewer studies explored their adaptation to the condition and the genetic counseling process. A systematic reconsideration of the genetic counseling process may be undertaken to provide an evidence-informed health care service that is tailored to the needs of this adolescent population.