Search Results - "Hayeems, R. Z."

The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine by Bowdin, S.C., Hayeems, R.Z., Monfared, N., Cohn, R.D., Meyn, M.S.

“…Our increasing knowledge of how genomic variants affect human health and the falling costs of whole‐genome sequencing are driving the development of…”
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Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines by Anderson, J.A., Hayeems, R.Z., Shuman, C., Szego, M.J., Monfared, N., Bowdin, S., Zlotnik Shaul, R., Meyn, M.S.

“…The publication of the ACMG recommendations has reignited the debate over predictive testing for adult‐onset disorders in minors. Response has been polarized…”
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The development of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE): a novel strategy for measuring the clinical utility of genetic testing by Hayeems, R. Z., Luca, S., Ungar, W. J., Bhatt, A., Chad, L., Pullenayegum, E., Meyn, M. S.

“…Purpose Clinical utility describes a genetic test’s value to patients, families, health-care providers, systems, or society. This study aims to define clinical…”
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Parents perspectives on whole genome sequencing for their children: qualified enthusiasm? by Anderson, J A, Meyn, M S, Shuman, C, Zlotnik Shaul, R, Mantella, L E, Szego, M J, Bowdin, S, Monfared, N, Hayeems, R Z

“…ObjectiveTo better understand the consequences of returning whole genome sequencing (WGS) results in paediatrics and facilitate its evidence-based clinical…”
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How patients experience progressive loss of visual function: a model of adjustment using qualitative methods by Hayeems, R Z, Geller, G, Finkelstein, D, Faden, R R

“…Background: People with retinitis pigmentosa (RP) experience functional and psychological challenges as they adjust to progressive loss of visual function. The…”
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Parents’ Experience with Pediatric Microarray: Transferrable Lessons in the Era of Genomic Counseling by Hayeems, R. Z., Babul-Hirji, R., Hoang, N., Weksberg, R., Shuman, C.

“…Advances in genome-based microarray and sequencing technologies hold tremendous promise for understanding, better-managing and/or preventing disease and…”
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Response to Rubanovich et al by Hayeems, R. Z., Luca, S., Ungar, W. J., Bhatt, A., Chad, L., Pullenayegum, E., Meyn, M. S.

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Views from the clinic: Healthcare provider perspectives on whole genome sequencing in paediatrics by Szego, M.J., Meyn, M.S., Shuman, C., Zlotnik Shaul, R., Anderson, J.A., Bowdin, S., Monfared, N., Hayeems, R.Z.

“…Whole genome sequencing (WGS) is a transformative technology which promises improved diagnostic rates compared to conventional genetic testing strategies and…”
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A Systematic Review of the Effects of Disclosing Carrier Results Generated Through Newborn Screening by Hayeems, R. Z., Bytautas, J. P., Miller, F. A.

“…Evidence on the effects of disclosing carrier results identified through newborn screening (NBS) is needed to develop effective strategies for managing these…”
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Stakeholder attitudes towards the role and application of informed consent for newborn bloodspot screening: a study protocol by Nicholls, S G, Tessier, L, Etchegary, H, Brehaut, J C, Potter, B K, Hayeems, R Z, Chakraborty, P, Marcadier, J, Milburn, J, Pullman, D, Turner, L, Wilson, B J

“…Introduction  Newborn bloodspot screening (NBS) involves testing a small sample of blood taken from the heel of the newborn for a number of serious and…”
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Clinical obligations and public health programmes: healthcare provider reasoning about managing the incidental results of newborn screening by Miller, F A, Hayeems, R Z, Bombard, Y, Little, J, Carroll, J C, Wilson, B, Allanson, J, Paynter, M, Bytautas, J P, Christensen, R, Chakraborty, P

“…Background:Expanded newborn screening generates incidental results, notably carrier results. Yet newborn screening programmes typically restrict parental…”
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Consent for newborn screening: the attitudes of health care providers by Miller, F A, Hayeems, R Z, Carroll, J C, Wilson, B, Little, J, Allanson, J, Bytautas, J P, Paynter, M, Christensen, R, Chaktraborty, P

“…As newborn screening (NBS) expands to meet a broader definition of benefit, the scope of parental consent warrants reconsideration. We conducted a mixed…”
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EE48 Cost-Effectiveness of Alternative Diagnostic Testing Pathways with Whole Exome Sequencing (WES) in a Rare Disease Patient Population: The Canadian Care-for-Rare SOLVE (SOLVE) Multi-Centre Observational Cohort by Degeling, K, Grazziotin Lago, L, Hayeems, RZ, Boycott, KM, Bernier, FP, Mendoza-Londono, R, Seeger, TA, Marshall, D

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Rates of prenatal screening across health care regions in Ontario, Canada: a retrospective cohort study by Hayeems, Robin Z., PhD, Campitelli, Michael, MSc, Ma, Xiaomu, MSc, Huang, Tianhua, PhD, Walker, Mark, MSc, MD, Guttmann, Astrid, MDCM, MSc

“…Background It is recommended that all pregnant women be offered screening for Down syndrome and open neural tube defects, but emerging prenatal tests that are…”
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