Search Results - "Mighton, Chloe"
-
1
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)…”
Get full text
Journal Article -
2
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…”
Get full text
Journal Article -
3
Heath policy guiding the identification, analysis and management of secondary findings for individuals undergoing genomic sequencing: a systematic review protocol
Published in BMJ open (22-12-2022)“…Genomic sequencing is increasingly enabling precision care across medical specialties; however, the discovery of genomic 'secondary findings' (SFs) unrelated…”
Get full text
Journal Article -
4
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…”
Get full text
Journal Article -
5
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…”
Get full text
Journal Article -
6
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…”
Get full text
Journal Article -
7
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…”
Get full text
Journal Article -
8
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…”
Get full text
Journal Article -
9
Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario
Published in Journal of cancer research and clinical oncology (01-03-2021)“…Purpose The aim of this study was to determine the diagnostic yield of multigene panel testing among patients referred with hereditary breast and ovarian…”
Get full text
Journal Article -
10
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…”
Get full text
Journal Article -
11
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…”
Get full text
Journal Article -
12
Correction to: Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario
Published in Journal of cancer research and clinical oncology (01-08-2021)“…In the original article published, the proportions for the categories "Non-AJ, non-FC, non-Hispanic White" and "Other ethnicity" have incorrectly been…”
Get full text
Journal Article -
13
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…”
Get full text
Journal Article -
14
Primary care provider perspectives on using genomic sequencing in the care of healthy children
Published in European journal of human genetics : EJHG (01-05-2020)“…Genome sequencing (GS) studies involving healthy children can advance scientific knowledge of genetic variation. Little research has examined primary care…”
Get full text
Journal Article -
15
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…”
Get full text
Journal Article -
16
Development of patient "profiles" to tailor counseling for incidental genomic sequencing results
Published in European journal of human genetics : EJHG (01-07-2019)“…Guidelines recommend that providers engage patients in shared decision-making about receiving incidental results (IR) prior to genomic sequencing (GS), but…”
Get full text
Journal Article -
17
P782: Validation of low-pass genome sequencing for prenatal diagnosis
Published in Genetics in Medicine Open (2024)Get full text
Journal Article -
18
-
19
Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery
Published in BMJ open (29-04-2022)“…IntroductionThe high demand for genetic tests and limited supply of genetics professionals has created a need for alternative service delivery models. Digital…”
Get full text
Journal Article -
20
P397: Clinical utility of all types of medically relevant secondary findings: A systematic evidence review
Published in Genetics in Medicine Open (2023)Get full text
Journal Article