ORCID Profile
0000-0003-3269-8004
Current Organisations
Hospital for Sick Children
,
University of Toronto
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Publisher: Elsevier BV
Date: 04-2022
Publisher: Frontiers Media SA
Date: 11-02-2020
Publisher: Elsevier BV
Date: 04-2019
Publisher: Springer Science and Business Media LLC
Date: 18-02-2021
Publisher: Springer Science and Business Media LLC
Date: 13-01-2016
DOI: 10.1038/NPJGENMED.2015.12
Abstract: The standard of care for first-tier clinical investigation of the aetiology of congenital malformations and neurodevelopmental disorders is chromosome microarray analysis (CMA) for copy-number variations (CNVs), often followed by gene(s)-specific sequencing searching for smaller insertion–deletions (indels) and single-nucleotide variant (SNV) mutations. Whole-genome sequencing (WGS) has the potential to capture all classes of genetic variation in one experiment however, the diagnostic yield for mutation detection of WGS compared to CMA, and other tests, needs to be established. In a prospective study we utilised WGS and comprehensive medical annotation to assess 100 patients referred to a paediatric genetics service and compared the diagnostic yield versus standard genetic testing. WGS identified genetic variants meeting clinical diagnostic criteria in 34% of cases, representing a fourfold increase in diagnostic rate over CMA (8% P value=1.42E−05) alone and more than twofold increase in CMA plus targeted gene sequencing (13% P value=0.0009). WGS identified all rare clinically significant CNVs that were detected by CMA. In 26 patients, WGS revealed indel and missense mutations presenting in a dominant (63%) or a recessive (37%) manner. We found four subjects with mutations in at least two genes associated with distinct genetic disorders, including two cases harbouring a pathogenic CNV and SNV. When considering medically actionable secondary findings in addition to primary WGS findings, 38% of patients would benefit from genetic counselling. Clinical implementation of WGS as a primary test will provide a higher diagnostic yield than conventional genetic testing and potentially reduce the time required to reach a genetic diagnosis.
Publisher: Wiley
Date: 29-11-2022
DOI: 10.1111/CGE.14262
Abstract: We examined the utility of clinical and research processes in the reanalysis of publicly‐funded clinical exome sequencing data in Ontario, Canada. In partnership with eight sites, we recruited 287 families with suspected rare genetic diseases tested between 2014 and 2020. Data from seven laboratories was reanalyzed with the referring clinicians. Reanalysis of clinically relevant genes identified diagnoses in 4% (13/287) four were missed by clinical testing. Translational research methods, including analysis of novel candidate genes, identified candidates in 21% (61/287). Of these, 24 families have additional evidence through data sharing to support likely diagnoses (8% of cohort). This study indicates few diagnoses are missed by clinical laboratories, the incremental gain from reanalysis of clinically‐relevant genes is modest, and the highest yield comes from validation of novel disease‐gene associations. Future implementation of translational research methods, including continued reporting of compelling genes of uncertain significance by clinical laboratories, should be considered to maximize diagnoses.
Publisher: BMJ
Date: 06-2019
DOI: 10.1136/BMJOPEN-2018-026872
Abstract: Obesity is a major risk factor for low-grade endometrial cancer. The surgical management of patients with obesity is challenging, and they may face unique barriers to accessing care. We completed a qualitative study to understand the experiences of low-grade endometrial cancer patients with morbid obesity, from symptom onset to diagnosis to surgery. Semi-structured interviews were performed with endometrial cancer patients with morbid obesity (body mass index (BMI) 40 kg/m 2 ) referred for primary surgery. Transcribed interviews were coded line-by-line and analysed using an interpretive descriptive approach that drew on labelling theory to understand patients’ experiences. Thematic sufficiency was confirmed after 15 interviews. Two tertiary care centres in Toronto, Ontario, Canada. Fifteen endometrial cancer patients with a median age of 61 years (range: 50–74) and a median BMI of 50 kg/m 2 (range: 44–70) were interviewed. Thematic analysis identified that (1) both patients and providers lack knowledge on endometrial cancer and its presenting symptoms and risk factors (2) patients with morbid obesity are subject to stigma and poor communication in the healthcare system and (3, 4) although clinical, administrative, financial, geographic and facility-related barriers exist, quality care for patients with morbid obesity is an achievable goal. Improved education on the prevention and identification of endometrial cancer is needed for both patients and providers. Delivery of cancer care to patients with morbid obesity may be improved through provider awareness of the impact of weight stigma and establishing streamlined care pathways at centres equipped to manage surgical complexity.
Publisher: Elsevier BV
Date: 09-2023
Location: No location found
No related grants have been discovered for Robin Hayeems.