The Clinician-reported Genetic Testing Utility Index (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validity.

Purpose: To develop and assess the face and construct validity of the Clinician-reported Genetic Testing Utility Index (C-GUIDE) for genetic testing in prenatal care.

Methods: After a literature review and consultation with clinical experts, a preliminary draft of C-GUIDE Prenatal was developed. Its face and content validity were then assessed by 19 prenatal genetics' providers using interviews and surveys.

Genetics providers' perspectives on the use of digital tools in clinical practice.

Purpose: Digital tools are increasingly incorporated into genetics practice to address challenges with the current model of care. Yet, genetics providers' perspectives on digital tool use are not well characterized.

Methods: Genetics providers across Canada were recruited.

Assessing the Performance of the Clinician-reported Genetic Testing Utility InDEx (C-GUIDE): Further Evidence of Inter-rater Reliability.

Purpose: Advanced genomic and genetic testing technologies are quickly diffusing into clinical practice, but standardized approaches to assessing their clinical utility are limited. Previous work developed and generated preliminary evidence of validity for a novel outcome measure, the Clinician-reported Genetic testing Utility InDEx (C-GUIDE). C-GUIDE is a 17-item measure that captures the utility of genetic testing from the providers' perspective.

Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery.

Chatbots, web-based artificial intelligence tools that simulate human conversation, are increasingly in use to support many areas of genomic medicine. However, patient preferences towards using chatbots across the range of clinical settings are unknown. We conducted a qualitative study with individuals who underwent genetic testing for themselves or their child.

Patient-facing digital tools for delivering genetic services: a systematic review.

This study systematically reviewed the literature on the impact of digital genetics tools on patient care and system efficiencies. MEDLINE and Embase were searched for articles published between January 2010 and March 2021. Studies evaluating the use of patient-facing digital tools in the context of genetic service delivery were included.

The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability.

Purpose: Demonstrating the clinical utility of genetic testing is fundamental to clinical adoption and reimbursement, but standardized definitions and measurement strategies for this construct do not exist. The Clinician-reported Genetic testing Utility InDEx (C-GUIDE) offers a novel measure to fill this gap. This study assessed its validity and inter-rater reliability.

Genome sequencing among children with medical complexity: What constitutes value from parents' perspective?

Genome sequencing (GS) has demonstrated high diagnostic yield in pediatric patients with complex, clinically heterogeneous presentations. Emerging evidence shows generally favorable experiences for patients and families receiving GS. As a result, implementation of GS in pediatrics is gaining momentum.

Utility of Genetic Testing from the Perspective of Parents/Caregivers: A Scoping Review.

In genomics, perceived and personal utility have been proposed as constructs of value that include the subjective meanings and uses of genetic testing. Precisely what constitutes these constructs of utility and how they vary by stakeholder perspective remains unresolved. To advance methods for measuring the value of genetic testing in child health, we conducted a scoping review of the literature to characterize utility from the perspective of parents/caregivers.

Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.

Importance: Children with medical complexity (CMC) represent a growing population in the pediatric health care system, with high resource use and associated health care costs. A genetic diagnosis can inform prognosis, anticipatory care, management, and reproductive planning. Conventional genetic testing strategies for CMC are often costly, time consuming, and ultimately unsuccessful.

Health-care providers' perspectives on uncertainty generated by variant forms of newborn screening targets.

Purpose: Despite the public health successes of newborn bloodspot screening, uncertainty associated with variant forms of primary screening targets has led to discrepancies in medical management. This study explored health-care providers' approaches to managing atypical forms of inherited metabolic diseases (IMDs) in the absence of evidence-based guidelines.

Methods: Semistructured telephone interviews were conducted with metabolic specialists.

Genome Diagnostics: Novel Strategies for Measuring Value.

Genetic testing technology is rapidly evolving with the growth of personalized medicine. While test evaluation typically relies on laboratory measures of performance, tests can be costly and analytically and ethically complex. A more fulsome consideration of value is warranted to inform adoption and appropriate use.

Online Peer-to-Peer Mentoring Support for Youth with Hemophilia: Qualitative Needs Assessment.

Background: To support adolescents through transition from pediatrics to adult care, health care providers and families help teens gain knowledge and develop self-management skills. Peer mentoring can provide meaningful support and has been associated with improved health outcomes in patients with other chronic conditions. Peer mentoring is an appealing way to provide support, but it is imperative to consider the unique needs of adolescents to ensure its success.

The Perceived Ease of Use and Usefulness of Loop: Evaluation and Content Analysis of a Web-Based Clinical Collaboration System.

Background: Patients with complex health care needs require the expertise of many health care providers. Communication, collaboration, and patient-centered care positively impact care quality and patient outcomes. Few technologies exist that facilitate collaboration between providers across settings of care and also engage the patient.

A qualitative content analysis of peer mentoring video calls in adolescents with chronic illness.

This article endeavored to determine the topics of discussion during open-ended peer mentoring between adolescents and young adults living with chronic illness. This study occurred alongside a study of the iPeer2Peer Program. Fifty-two calls (7 mentor-mentee pairings) were audio recorded, transcribed verbatim, and analyzed using inductive coding with an additional 30 calls (21 mentor-mentee pairings) coded to ensure representativeness of the data.

The iPeer2Peer Program: a pilot randomized controlled trial in adolescents with Juvenile Idiopathic Arthritis.

Background: Adolescents with Juvenile Idiopathic Arthritis (JIA) are at risk for physical, emotional, social and role challenges that negatively impact quality of life. Peer mentoring has been shown to improve positive health behaviours in adolescents with chronic disease while simultaneously providing social support. The objectives of this paper are to examine the feasibility and acceptability of an online peer mentoring program (iPeer2Peer Program) for adolescents with JIA.

Proceedings of the 2016 Childhood Arthritis and Rheumatology Research Alliance (CARRA) Scientific Meeting : Toronto, Canada. 14-17 April 2016.

P1 Serologic evidence of gut-driven systemic inflammation in juvenile idiopathic arthritis Lampros Fotis, Nur Shaikh, Kevin Baszis, Anthony French, Phillip Tarr P2 Oral health and anti-citrullinated peptide antibodies (ACPA) in juvenile idiopathic arthritis Sriharsha Grevich, Peggy Lee, Sarah Ringold, Brian Leroux, Hannah Leahey, Megan Yuasa, Jessica Foster, Jeremy Sokolove, Lauren Lahey, William Robinson, Joshua Newsom, Anne Stevens P3 Novel autoantigens for endothelial cell antibodies in pediatric rheumatic diseases identified by proteomics Rie Karasawa, Mayumi Tamaki, Megumi Tanaka, Toshiko Sato, Kazuo Yudoh, James N. Jarvis P4 Transcriptional profiling reveals monocyte signature associated with JIA patient poor response to methotrexate Halima Moncrieffe, Mark F. Bennett, Monica Tsoras, Lorie Luyrink, Huan Xu, Sampath Prahalad, Paula Morris, Jason Dare, Peter A.

A Qualitative Study of the Impact of Cancer on Romantic Relationships, Sexual Relationships, and Fertility: Perspectives of Canadian Adolescents and Parents During and After Treatment.

Purpose: We sought to gain insight into perspectives around core domains of adolescent development--romantic relationships, sexual relationships, and fertility--from the vantage point of Canadian adolescents and parents during and after cancer treatment.

Methods: Twenty adolescents (12-17 years old at interview) and 20 parents (who may or may not have had an adolescent interviewed) participated in this study. Using a semistructured guide, adolescents and parents were interviewed separately.

iPeer2Peer program: a pilot feasibility study in adolescents with chronic pain.

Adolescents with chronic pain are often socially isolated, having never met others with chronic pain, and often feel misunderstood by healthy peers. Adolescence is a sensitive period for developing one's sense of self and autonomy, which often occurs in the context of peer relationships. This developmental process is disrupted in adolescents when their chronic pain interferes with their social interactions.

Program manager perspectives on the service system to meet the needs of youth with concurrent disorders: findings from a Canadian national survey.

Background: Concurrent mental health and substance use issues are a serious problem for adolescents and transition-aged youth. Service providers across sectors must be involved in informing system change to meet youth needs. This study examines stakeholder perspectives on services for youth with concurrent disorders including 1) clinical issues in youth services; 2) priority system issues; and 3) optimal knowledge translation strategies to enhance researcher-stakeholder communication.