Search Results - "Bombard, Yvonne"
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How digital tools can advance quality and equity in genomic medicine
Published in Nature reviews. Genetics (01-09-2020)“…Now more than ever, digital applications are essential to accessing genetics services and optimizing their delivery. At this watershed moment, digital…”
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Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis
Published in Genetics in medicine (01-01-2021)“…This study systematically reviewed and synthesized the literature on psychological and clinical outcomes of receiving a variant of uncertain significance (VUS)…”
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The clinical utility of exome and genome sequencing across clinical indications: a systematic review
Published in Human genetics (01-10-2021)“…Exome sequencing and genome sequencing have the potential to improve clinical utility for patients undergoing genetic investigations. However, evidence of…”
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The Genetic Non-Discrimination Act: critical for promoting health and science in Canada
Published in Canadian Medical Association journal (CMAJ) (14-05-2018)“…Bombard et al states on the criticality of the Genetic Non-Discrimination Act (GNA) for promoting the health of Canadians and ensuring Canada remains on the…”
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Effect of genetics clinical decision support tools on health-care providers’ decision making: a mixed-methods systematic review
Published in Genetics in medicine (01-04-2021)“…Patient care involving genetics is challenging for nongenetics health-care providers. Clinical decision support (CDS) tools are a potential solution because…”
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Variant classification changes over time in BRCA1 and BRCA2
Published in Genetics in medicine (01-10-2019)“…Purpose To report BRCA1 and BRCA2 ( BRCA1/2 ) variant reassessments and reclassifications between 2012 and 2017 at the Advanced Molecular Diagnostics…”
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From the patient to the population: Use of genomics for population screening
Published in Frontiers in genetics (24-10-2022)“…Genomic medicine is expanding from a focus on diagnosis at the patient level to prevention at the population level given the ongoing under-ascertainment of…”
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Patient-facing digital tools for delivering genetic services: a systematic review
Published in Journal of medical genetics (01-01-2023)“…This study systematically reviewed the literature on the impact of digital genetics tools on patient care and system efficiencies. MEDLINE and Embase were…”
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Health-care practitioners’ preferences for the return of secondary findings from next-generation sequencing: a discrete choice experiment
Published in Genetics in medicine (01-12-2020)“…Purpose Health-care practitioners’ (HCPs) preferences for returning secondary findings (SFs) will influence guideline compliance, shared decision-making, and…”
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Widening the lens of actionability: A qualitative study of primary care providers' views and experiences of managing secondary genomic findings
Published in European journal of human genetics : EJHG (01-05-2022)“…Most secondary genomic findings (SFs) fall in the scope of primary care practice. However, primary care providers' (PCPs) capacity to manage these findings is…”
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What do we do now?: Responding to claims of germline gene editing in humans
Published in Genetics in medicine (01-10-2019)Get full text
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Quality of life drives patients' preferences for secondary findings from genomic sequencing
Published in European journal of human genetics : EJHG (01-09-2020)“…There is growing impetus to include measures of personal utility, the nonmedical value of information, in addition to clinical utility in health technology…”
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Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings
Published in Human genetics (01-03-2021)“…Genomic sequencing advances have increased the potential to identify secondary findings (SFs). Current guidelines recommend the analysis of 59 medically…”
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Engaging patients to improve quality of care: a systematic review
Published in Implementation science : IS (26-07-2018)“…To identify the strategies and contextual factors that enable optimal engagement of patients in the design, delivery, and evaluation of health services. We…”
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Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery
Published in Human genetics (01-03-2023)“…Chatbots, web-based artificial intelligence tools that simulate human conversation, are increasingly in use to support many areas of genomic medicine. However,…”
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Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial
Published in Genetics in medicine (01-04-2020)“…To evaluate the effectiveness of the Genomics ADvISER (www.genomicsadviser.com) decision aid (DA) for selection of secondary findings (SF), compared with…”
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Patient and public preferences for being recontacted with updated genomic results: a mixed methods study
Published in Human genetics (01-12-2021)“…Variants of uncertain significance (VUS) are frequently reclassified but recontacting patients with updated results poses significant resource challenges. We…”
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Access to novel drugs and therapeutics for children and youth: Eliciting citizens' values to inform public funding decisions
Published in Health expectations : an international journal of public participation in health care and health policy (01-04-2023)“…Introduction The unique evidentiary, economic and ethical challenges associated with health technology assessment (HTA) of precision therapies limit access to…”
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The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care
Published in Genetics in medicine (01-06-2021)“…Alternative models of genetic counseling are needed to meet the rising demand for genomic sequencing. Digital tools have been proposed as a method to augment…”
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