Publications by authors named "Anne-Marie Laberge"

55 Publications

Metabolically healthy obesity in children enrolled in the CANadian Pediatric Weight management Registry (CANPWR): An exploratory secondary analysis of baseline data.

Clin Obes 2021 Oct 7:e12490. Epub 2021 Oct 7.

Department of Pediatrics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.

Our study purpose was to determine the prevalence of metabolically healthy obesity (MHO) and examine factors associated with MHO in children with obesity. This cross-sectional study was a secondary, exploratory analysis of data that included 2-17 years old with a body mass index (BMI) ≥85th percentile from the CANadian Pediatric Weight management Registry. Children were classified as having MHO or metabolically unhealthy obesity (MUO) using consensus-based criteria. Those with MHO had normal triglycerides, high-density lipoprotein cholesterol, blood pressure, and fasting glucose. Logistic regression was used to examine factors associated with MHO, which included calculating odds ratios (ORs) and 95% confidence intervals (CIs). In total, 945 children were included (mean age: 12.3 years; 51% female). The prevalence of MHO was 31% (n = 297), with lower levels across increasing age categories (2-5 years [n = 18; 43%], 6-11 years [n = 127; 35%], 12-17 years [n = 152; 28%]). Children with MHO were younger, weighed less, and had lower BMI z-scores than their peers with MUO (all p < 0.01). MHO status was positively associated with physical activity (OR: 1.18; 95% CI: 1.01-1.38), skim milk intake (OR: 1.10; 95% CI: 1.01-1.19), and fruit intake (OR: 1.12; 95% CI: 1.01-1.24) and negatively associated with BMI z-score (OR: 0.69; 95% CI: 0.60-0.79), total screen time in hours (OR: 0.79; 96% CI: 0.68-0.92), and intake of fruit flavoured drinks (OR: 0.91; 95% CI: 0.84-0.99). These findings may help guide clinical decision-making regarding obesity management by focusing on children with MUO who are at relatively high cardiometabolic risk.
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http://dx.doi.org/10.1111/cob.12490DOI Listing
October 2021

Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists.

J Med Genet 2021 Sep 20. Epub 2021 Sep 20.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

Purpose And Scope: The aim of this position statement is to provide recommendations for Canadian healthcare professionals regarding the use of genome-wide sequencing (GWS) in the context of diagnostic testing of the fetus during pregnancy. This statement was developed to facilitate clinical translation of GWS as a prenatal diagnostic test and the development of best practices in Canada, but the applicability of this document is broader and aims to help professionals in other healthcare systems.

Methods Of Statement Development: A multidisciplinary group was assembled to review existing literature on fetal GWS for genetic diagnosis in the context of suspected monogenic diseases and to make recommendations relevant to the Canadian context. The statement was circulated for comments to the Canadian College of Medical Geneticists (CCMG) membership-at-large and, following incorporation of feedback, approved by the CCMG Board of Directors on 19 February 2021.

Results And Conclusions: The use of prenatal GWS is indicated for the investigation of multiple fetal anomalies. Its use in the context of isolated fetal anomaly should be guided by available resources and current evidence, which is continually changing. During pregnancy, GWS should be ordered by, or in collaboration with, a medical geneticist. It should be used following detailed phenotyping to interrogate known disease genes, preferably using a trio approach, following detailed fetal phenotyping. Testing should be done with an overall aim to help in the management of the pregnancy, delivery and postnatal care. It should be guided by personal utility of the test for the pregnant person and clinical utility for pregnancy and birth management, as outlined herein. Genetic counselling is crucial in making the parental decision an informed decision. Chromosomal microarray analysis should be completed in parallel or prior to GWS and should be preceded by Quantitative Fluorescent PCR (QF-PCR) for detection of common aneuploidies. In normal circumstances, only pathogenic and likely pathogenic variants with a high likelihood of being associated with the identified fetal anomalies should be reported. Reporting of secondary findings, defined as purposeful analysis of variants in a set of medically actionable genes, should not, by default, be performed in the prenatal context. Laboratories should only report incidental findings that reveal risk of a significant Mendelian condition during infancy and childhood. Should a laboratory have a policy for reporting incidental findings in medically actionable adult-onset conditions, they should only be reported with explicit opt-in consent signed by the tested individuals. Genetic counselling is crucial in disclosing the test results and the implications the results may have for the fetus. It should be emphasised that negative results do not rule out a genetic diagnosis nor guarantee a good prognosis. Postnatal phenotyping and reanalysis of existing data should be considered. Families should be given the opportunity to participate in research studies as appropriate. These recommendations will be routinely re-evaluated as knowledge of the diagnostic and clinical utility of fetal GWS during pregnancy improves.
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http://dx.doi.org/10.1136/jmedgenet-2021-107897DOI Listing
September 2021

Individual and family characteristics associated with health indicators at entry into multidisciplinary pediatric weight management: findings from the CANadian Pediatric Weight management Registry (CANPWR).

Int J Obes (Lond) 2021 Sep 9. Epub 2021 Sep 9.

Department of Pediatrics, McMaster University, Hamilton, ON, Canada.

Objectives: (1) To explore individual and family characteristics related to anthropometric and cardiometabolic health indicators and (2) examine whether characteristics that correlate with cardiometabolic health indicators differ across severity of obesity at time of entry to Canadian pediatric weight management clinics.

Methods: We conducted a cross-sectional analysis of 2-17 year olds with overweight or obesity who registered in the CANadian Pediatric Weight Management Registry (CANPWR) between May 2013 and October 2017 prior to their first clinic visit. Individual modifiable health behaviors included dietary intake, physical activity, screen time, and sleep. Family characteristics included parental BMI, family medical history, socioeconomic status and family structure. Linear mixed effects stepwise regression analysis was performed to determine which characteristics were related to each health indicator: BMI z-score; waist circumference; waist to height ratio; blood pressure; glycemia; HDL cholesterol; non-HDL cholesterol; triglycerides.

Results: This study included 1296 children (mean age ± standard deviation: 12.1 ± 3.5 years; BMI z-score: 3.55 ± 1.29; 95.3% with obesity). Hours spent sleeping (estimated β = -0.10; 95% CI [-0.15, -0.05], p = 0.0001), hours per week of organized physical activity (estimated β = -0.32; 95% CI [-0.53, -0.11], p = 0.0026), daily sugared drink intake (estimated β = 0.06; 95% CI [0.01, 0.10], p = 0.0136) and maternal BMI (estimated β = 0.03; 95% CI [0.02, 0.04], p < 0.0001) were associated with BMI z-score (adj. R = 0.2084), independent of other individual and family characteristics. Physical activity, total sugared drink intake and sleep duration were associated with glycemia and non-HDL cholesterol, independent of child BMI z-score. However, irrespective of obesity severity, little of the variance (0.86-11.1%) in cardiometabolic health indicators was explained by individual modifiable health behaviors.

Conclusions: Physical activity, total sugared drink intake and hours spent sleeping were related to anthropometric and some cardiometabolic health indicators in children entering pediatric weight management programs. This highlights the importance of these modifiable health behaviors on multiple health indicators in children with obesity.
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http://dx.doi.org/10.1038/s41366-021-00959-3DOI Listing
September 2021

Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.

Patient 2021 Jul 20. Epub 2021 Jul 20.

School of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Cres, Office 207C, Ottawa, ON, K1G 5Z3, Canada.

Background And Objective: Children with inherited metabolic diseases often require complex and highly specialized care. Patient and family-centered care can improve health outcomes that are important to families. This study aimed to examine experiences of family caregivers (parents/guardians) of children diagnosed with inherited metabolic diseases with healthcare to inform strategies to improve those experiences.

Methods: A cross-sectional mailed survey was conducted of family caregivers recruited from an ongoing cohort study. Participants rated their healthcare experiences during their child's visits to five types of healthcare settings common for inherited metabolic diseases: the metabolic clinic, the emergency department, hospital inpatient units, the blood laboratory, and the pharmacy. Participants provided narrative descriptions of any memorable negative or positive experiences.

Results: There were 248 respondents (response rate 49%). Caregivers were generally very or somewhat satisfied with the care provided at each care setting. Appropriate treatment, provider knowledge, provider communication, and care coordination were deemed essential aspects of satisfaction with care by the majority of participants across many settings. Memorable negative experiences were reported by 8-22% of participants, varying by setting. Among participants who reported memorable negative experiences, contributing factors included providers' demeanor, lack of communication, lack of involvement of the family, and disregard of an emergency protocol letter provided by the family.

Conclusions: While caregivers' satisfaction with care for children with inherited metabolic diseases was high, we identified gaps in family-centered care and factors contributing to negative experiences that are important to consider in the future development of strategies to improve pediatric care for inherited metabolic diseases.
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http://dx.doi.org/10.1007/s40271-021-00538-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8289623PMC
July 2021

Variability in How Canadian Pediatric Weight Management Clinics Deliver Care: Evidence from the CANadian Pediatric Weight Management Registry.

Child Obes 2021 09 11;17(6):420-426. Epub 2021 May 11.

Department of Pediatrics, Centre for Metabolism, Obesity, and Diabetes Research, McMaster University, Hamilton, Ontario, Canada.

Clinical practice guidelines for pediatric weight management highlight the importance of family-based behavioral strategies to enhance health behaviors. Little is known, however, of how clinics implement these programs. The study objectives were to (1) describe how Canadian pediatric weight management clinics deliver care and (2) evaluate change in services over time. The CANadian Pediatric Weight management Registry (CANPWR) is a multisite prospective cohort study of participants enrolled in a Canadian pediatric weight management clinic. Clinical program characteristics (, referral process, inclusion criteria, funding, program characteristics, patient interaction methods, and follow-up) were collected at the start and end of the CANPWR recruitment period (2015-2019). Entrance into the nine clinics varied with limiting criteria based on geographic proximity, age, weight status, and presence of health conditions. The clinics varied in size (50-220 new patients/year). The planned length of intervention varied widely, from 10 weeks to open-ended (median 2 years). Behavior modification strategies were delivered with a mix of individual and group-based sessions and most were delivered in person, complemented by use of virtual care. Over time, more clinics saw patients under the age of 5 years and all clinics defined a program length. Although all clinics offered family-based behavioral weight management services, these varied considerably, especially in program entrance criteria, size of clinic, and the length of intervention. The influence of the variability in delivery of services on health outcomes will be addressed in future studies.
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http://dx.doi.org/10.1089/chi.2021.0011DOI Listing
September 2021

Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.

J Med Genet 2021 Oct 28;58(10):653-665. Epub 2021 Apr 28.

Département des sciences fondamentales, Université du Québec à Chicoutimi, Chicoutimi, Québec, Canada

The Saguenay-Lac-Saint-Jean (SLSJ) region located in the province of Quebec was settled in the 19th century by pioneers issued from successive migration waves starting in France in the 17th century and continuing within Quebec until the beginning of the 20th century. The genetic structure of the SLSJ population is considered to be the product of a triple founder effect and is characterised by a higher prevalence of some rare genetic diseases. Several studies were performed to elucidate the historical, demographic and genetic background of current SLSJ inhabitants to assess the origins of these rare disorders and their distribution in the population. Thanks to the development of new sequencing technologies, the genes and the variants responsible for the most prevalent conditions were identified. Combined with other resources such as the BALSAC population database, identifying the causal genes and the pathogenic variants allowed to assess the impacts of some of these founder mutations on the population health and to design precision medicine public health strategies based on carrier testing. Furthermore, it stimulated the establishment of many public programmes.We report here a review and an update of a subset of inherited disorders and founder mutations in the SLSJ region. Data were collected from published scientific sources. This work expands the knowledge about the current frequencies of these rare disorders, the frequencies of other rare genetic diseases in this population, the relevance of the carrier tests offered to the population, as well as the current available treatments and research about future therapeutic avenues for these inherited disorders.
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http://dx.doi.org/10.1136/jmedgenet-2021-107809DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8479736PMC
October 2021

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.

Genet Med 2021 06 10;23(6):1116-1124. Epub 2021 Feb 10.

Pediatrics Department, Medical Genetics Division, CHU Sainte-Justine, Montreal, QC, Canada.

Purpose: Recent studies have identified suggestive prenatal features of RASopathies (e.g., increased nuchal translucency [NT], cystic hygroma [CH], hydrops, effusions, congenital heart diseases [CHD], polyhydramnios, renal anomalies). Our objective is to clarify indications for RASopathy prenatal testing. We compare genotype distributions between pre- and postnatal populations and propose genotype-phenotype correlations.

Methods: Three hundred fifty-two chromosomal microarray-negative cases sent for prenatal RASopathy testing between 2012 and 2019 were collected. For most, 11 RASopathy genes were tested. Postnatal cohorts (25 patients with available prenatal information and 108 institutional database genotypes) and the NSeuroNet database were used for genotypic comparisons.

Results: The overall diagnostic yield was 14% (50/352), with rates >20% for effusions, hydrops, and CHD. Diagnostic yield was significantly improved in presence of hypertrophic cardiomyopathy (HCM), persistent or associated CH, any suggestive finding combined with renal anomaly or polyhydramnios, or ≥2 ultrasound findings. Largest prenatal contributors of pathogenic variants were PTPN11 (30%), RIT1 (16%), RAF1 (14%), and HRAS (12%), which considerably differ from their prevalence in postnatal populations. HRAS, LZTR1, and RAF1 variants correlated with hydrops/effusions, and RIT1 with prenatal onset HCM.

Conclusion: After normal chromosomal microarray, RASopathies should be considered when any ultrasound finding of lymphatic dysplasia or suggestive CHD is found alone or in association.
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http://dx.doi.org/10.1038/s41436-020-01093-7DOI Listing
June 2021

A qualitative study of women and partners from Lebanon and Quebec regarding an expanded scope of noninvasive prenatal testing.

BMC Pregnancy Childbirth 2021 Jan 13;21(1):54. Epub 2021 Jan 13.

Bioethics Program, Department of Social and Preventive Medicine, School of Public Health, Université de Montréal, Montreal, Canada.

Background: In the near future, developments in non-invasive prenatal testing (NIPT) may offer couples the opportunity to expand the range of genetic conditions tested with this technology. This possibility raises a host of ethical and social concerns, such as the type of information (medical vs. non-medical information) that couples might be exposed to and how this might complicate their informed decision-making. Currently, only limited research, mainly carried out in western countries, was conducted on women's and partners' views regarding the potential expansion of NIPT.

Methods: This study used semi-structured interviews with pregnant women and their partners to explore their views on future potential NIPT applications such as non-medical sex selection and non-medical traits, paternity testing, and NIPT use for fetal whole genome sequencing (FWGS). It was conducted in Lebanon and Quebec, as case studies to explore the impact of cultural differences on these views.

Results: We found no differences and many similarities when comparing the perceptions of participants in both contexts. While couples in both settings disapproved of the use of NIPT for non-medical sex selection and non-medical traits such as physical characteristics, they were near-unanimous about their support for its use for paternity testing in specific cases, such as legal doubts or conflicts related to the identity of the father. Participants were more ambivalent about NIPT for Fetal Whole Genome Sequencing. They supported this use to detect conditions that would express at birth or early childhood, while objecting to testing for adult-onset conditions.

Conclusions: These results can further inform the debate on the future uses of NIPT and future policy related its implementation.
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http://dx.doi.org/10.1186/s12884-020-03538-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7805222PMC
January 2021

Noninvasive Prenatal Testing: Views of Canadian Pregnant Women and Their Partners Regarding Pressure and Societal Concerns.

AJOB Empir Bioeth 2021 Jan-Mar;12(1):53-62. Epub 2020 Oct 23.

Metabolic and Cardiovascular Health, CHU Sainte-Justine Research Center, Montreal, Quebec, Canada.

Background: Noninvasive prenatal testing (NIPT) provides important benefits yet raises ethical concerns. We surveyed Canadian pregnant women and their partners to explore their views regarding pressure to test and terminate a pregnancy, as well as other societal impacts that may result from the routinization of NIPT.

Methods: A questionnaire was offered (March 2015 to July 2016) to pregnant women and their partners at five healthcare facilities in four Canadian provinces.

Results: 882 pregnant women and 395 partners completed the survey. 64% of women anticipated feeling no pressure to take the test if it were offered routinely, and 39% were not concerned about routinization leading to increased pressure to terminate a pregnancy of a fetus with Down Syndrome. Regarding other social concerns possibly resulting from routinization, pregnant women were most concerned regarding a reduction in resources available for people with Down Syndrome and their families and least concerned regarding a decrease in the population of people with Down Syndrome.

Conclusions: Our findings reflect the concerns expressed by pregnant women and their partners, both personal (pressure to test, pressure to terminate) and societal (e.g., regarding potential negative impact on people with disabilities and their families). Even if most women were not concerned about feeling pressured to test due to NIPT routinization, a large minority express concerns that should not be taken lightly. Moreover, a majority of respondents were concerned regarding pressure to terminate pregnancies due to NIPT routinization as well as regarding most societal impacts they were queried on, especially the possible future reduction in resources available for people with DS and their families. Canadian policy-makers should consider these potential negative ramifications of NIPT and ensure that appropriate social policies accompany its implementation.
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http://dx.doi.org/10.1080/23294515.2020.1829173DOI Listing
September 2021

A Novel Recurrent Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia.

Arterioscler Thromb Vasc Biol 2020 11 17;40(11):2686-2699. Epub 2020 Sep 17.

Division of Cardiovascular Medicine, Department of Internal Medicine (H.L.H., Y.W., M.-L.Y., K.L.H., J.L., A.E.K., S.K.G.), University of Michigan Medical School, Ann Arbor.

Objective: While rare variants in the gene have been associated with classical Ehlers-Danlos syndrome and rarely with arterial dissections, recurrent variants in underlying a systemic arteriopathy have not been described. Monogenic forms of multifocal fibromuscular dysplasia (mFMD) have not been previously defined. Approach and Results: We studied 4 independent probands with the pathogenic variant c.1540G>A, p.(Gly514Ser) who presented with arterial aneurysms, dissections, tortuosity, and mFMD affecting multiple arteries. Arterial medial fibroplasia and smooth muscle cell disorganization were confirmed histologically. The c.1540G>A variant is predicted to be pathogenic in silico and absent in gnomAD. The c.1540G>A variant is on a shared 160.1 kb haplotype with 0.4% frequency in Europeans. Furthermore, exome sequencing data from a cohort of 264 individuals with mFMD were examined for variants. In this mFMD cohort, c.1540G>A and 6 additional relatively rare variants predicted to be deleterious in silico were identified and were associated with arterial dissections (=0.005).

Conclusions: c.1540G>A is the first recurring variant recognized to be associated with arterial dissections and mFMD. This variant presents with a phenotype reminiscent of vascular Ehlers-Danlos syndrome. A shared haplotype among probands supports the existence of a common founder. Relatively rare genetic variants predicted to be deleterious by in silico analysis were identified in ≈2.7% of mFMD cases, and as they were enriched in patients with arterial dissections, may act as disease modifiers. Molecular testing for should be considered in patients with a phenotype overlapping with vascular Ehlers-Danlos syndrome and mFMD.
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http://dx.doi.org/10.1161/ATVBAHA.119.313885DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7953329PMC
November 2020

Implementation challenges for an ethical introduction of noninvasive prenatal testing: a qualitative study of healthcare professionals' views from Lebanon and Quebec.

BMC Med Ethics 2020 02 10;21(1):15. Epub 2020 Feb 10.

Bioethics Program, Department of Social and Preventive Medicine, School of Public Health, Université de Montréal, Montreal, Canada.

Background: The clinical introduction of non-invasive prenatal testing for fetal aneuploidies is currently transforming the landscape of prenatal screening in many countries. Since it is noninvasive, safe and allows the early detection of abnormalities, NIPT expanded rapidly and the test is currently commercially available in most of the world. As NIPT is being introduced globally, its clinical implementation should consider various challenges, including the role of the surrounding social and cultural contexts. We conducted a qualitative study with healthcare professionals in Lebanon and Quebec as case studies, to highlight the relevance of cultural contexts and to explore the concerns that should be taken into account for an ethical implementation of NIPT.

Methods: We conducted semi-structured interviews with 20 healthcare professionals (HCPs), 10 from each country, practicing in the field of prenatal screening and follow up diagnostic testing, including obstetricians and gynecologists, nurses, medical geneticists and, genetic counselors. We aimed to 1) explore HCPs' perceptions and views regarding issues raised by NIPT and 2) to shed light on ways in which the introduction of the same technology (NIPT) in two different contexts (Lebanon and Quebec) raises common and different challenges that are influenced by the cultural norms and legal policies in place.

Results: We identified challenges to the ethical implementation of NIPT. Some are common to both contexts, including financial/economic, social, and organizational/ educational challenges. Others are specific to each context. For example, challenges for Lebanon include abortion policy and financial profit, and in Quebec challenges include lobbying by Disability rights associations and geographical access to NIPT.

Conclusions: Our findings highlight the need to consider specific issues related to various cultural contexts when developing frameworks that can guide an ethically sound implementation of NIPT. Further, they show that healthcare professional education and training remain paramount in order to provide NIPT counseling in a way that supports pregnant women and couples' choice.
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http://dx.doi.org/10.1186/s12910-020-0455-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7011468PMC
February 2020

Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome.

Am J Med Genet A 2020 04 27;182(4):664-672. Epub 2019 Dec 27.

Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.

Our objectives were to describe fetal cases of vertebral defects (VD), assess the diagnostic yield of fetal chromosomal analysis for VD and determine which investigations should be performed when evaluating fetal VD. We performed a retrospective chart review for fetuses with VD seen between 2006 and 2015. Cases were identified from CHU Sainte-Justine's prenatal clinic visits, postmortem fetal skeletal surveys, and medical records. Cases with neural tube defects were excluded. Sixty-six fetuses with VD were identified at a mean gestational age of 20 weeks. Forty-seven (71.2%) had associated antenatal anomalies, most commonly genitourinary, skeletal/limb, and cardiac anomalies. Thirteen mothers (19.7%) had pregestational diabetes (95% CI [10.1%-29.3%]). Fifty-three cases had chromosomal analysis. Three had abnormal results (5.6%): trisomy 13, trisomy 22, and 9q33.1q34.11 deletion. Thirty-four (51.5%) pregnancies were terminated, one led to intrauterine fetal demise and 31 (46.9%) continued to term. Of 27 children who survived the neonatal period, 21 had congenital scoliosis and 3 had spondylocostal dysostosis. Seven had developmental delay. In conclusion, prenatal evaluation of fetuses with VD should include detailed morphological assessment (including fetal echocardiogram), maternal diabetes screening, and chromosomal microarray if non-isolated. Our findings provide guidance about management and counseling after a diagnosis of fetal VD.
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http://dx.doi.org/10.1002/ajmg.a.61468DOI Listing
April 2020

Implementation science as a leadership capability to improve patient outcomes and value in healthcare.

Healthc Manage Forum 2019 Nov 25;32(6):307-312. Epub 2019 Aug 25.

Memorial University of Newfoundland, St. John's, Newfoundland and Labrador, Canada.

When evidence thresholds are met, adopting healthcare innovations should add value, and this is forgone when evidence is not translated into practice. Activities that are not supported by evidence lead to ineffective or unnecessary care, or harm, poor outcomes, and low-value healthcare. This article provides an overview of implementation science, which is the scientific study of why implementation succeeds or fails. We draw parallels between the LEADS in a Caring Environment leadership framework and implementation science process models and frameworks. Taken together, the principles and practices in LEADS and the aims of implementation science are effectively quite similar and can be useful for healthcare management looking to optimize resources when implementing evidence-based practice and innovation into routine clinical care.
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http://dx.doi.org/10.1177/0840470419867427DOI Listing
November 2019

Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines.

Genet Med 2019 11 4;21(11):2431-2438. Epub 2019 Jun 4.

Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.

Genomic sequencing and multigene panel tests are moving rapidly into clinical practice for a range of indications, but the evidence to guide appropriate use is currently limited. Well-crafted advice is needed to reduce unjustified practice variation, minimize risk of error and harm to patients, and encourage best practices. In the absence of definitive evidence, provisional advice can be helpful if it clarifies the potential benefits and risks of different courses of action and identifies the knowledge gaps most important to address in future research. This paper proposes an evolutionary process starting with clinical practice advisory documents (CPADs) and culminating in clinical practice guidelines (CPGs), using two case examples to illustrate the need for this process. When evidence is limited, CPADs can clarify current practice options and identify key knowledge gaps. Added evidence can then support updates to the CPADs over time. Ultimately CPADs can provide the foundation for definitive CPGs as the evidence base matures. This approach addresses an important challenge in genomics and may be applicable to other fields in which technology and practice are outpacing evidence generation.
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http://dx.doi.org/10.1038/s41436-019-0549-3DOI Listing
November 2019

Obesity class versus the Edmonton Obesity Staging System for Pediatrics to define health risk in childhood obesity: results from the CANPWR cross-sectional study.

Lancet Child Adolesc Health 2019 06 3;3(6):398-407. Epub 2019 Apr 3.

Population Health Research Institute, Hamilton, ON, Canada; Department of Pediatrics, McMaster University, Hamilton, ON, Canada; Centre for Metabolism, Obesity and Diabetes Research, McMaster University, Hamilton, ON, Canada. Electronic address:

Background: Disease severity in paediatric obesity is usually defined using the body-mass index (BMI). Although informative at the population level, its usefulness on an individual level has limitations. The use of a clinical staging system-Edmonton Obesity Staging System for Pediatrics (EOSS-P)-in identifying health risk has been proposed. This study aimed to examine the association between BMI class and EOSS-P stage.

Methods: This cross-sectional study was done in children with obesity aged 5-17 years who enrolled in the Canadian Pediatric Weight Management Registry (CANPWR) between May 31, 2013, and Oct 27, 2017, involving ten multidisciplinary paediatric weight management clinics in Canada. We classified participants into WHO BMI classes (class I as 2-3 SD scores, class II as >3 SD scores, and class III as >4 SD scores above the WHO growth standard median), and applied the EOSS-P staging system (stages 0, 1, and 2/3) based on the clinical assessment of coexisting metabolic, mechanical, mental health, and social milieu issues. Clinical information was extracted from medical records and reported using standardised case report forms. Associations of BMI class with EOSS-P stage were examined in children with complete data.

Findings: Of the 847 children with complete data, 546 (64%) had severe obesity based on BMI class (ie, class II or III) and 678 (80%) were EOSS-P stage 2/3. Stage 2/3 obesity-related health issues were common; mental health concerns were most common (520 [61%] of 847 children), followed by metabolic (349 [41%] of 847 children), social milieu (179 [21%] of 847 children), and mechanical (86 [10%] of 847 children) health issues. Mental health issues (eg, anxiety and attention-deficit hyperactivity disorder) were equally distributed across BMI classes, metabolic health issues were slightly more common in higher BMI classes, and mechanical (eg, musculoskeletal issues and sleep apnoea) and social milieu (eg, bullying and low household income) issues increased with increasing BMI class. Of children with class I obesity, 206 (76%) of 270 had overall EOSS-P stage 2/3, compared with 195 (85%) of 229 with class III obesity.

Interpretation: Physical and mental health issues were highly prevalent among children with obesity irrespective of BMI class. Participants with class III obesity carried the greatest health risk across subcategories of the EOSS-P. As BMI class increased, a concomitant increased disease burden in mechanical and social milieu issues was observed, whereas metabolic and mental health risks were high across BMI classes.

Funding: Canadian Institutes of Health Research, Ontario Ministry of Health, McMaster University, and McMaster Children's Hospital.
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http://dx.doi.org/10.1016/S2352-4642(19)30056-2DOI Listing
June 2019

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada.

Orphanet J Rare Dis 2019 03 22;14(1):70. Epub 2019 Mar 22.

School of Epidemiology and Public Health, Faculty of Medicine, University of Ottawa, 600 Peter Morand Cr, Ottawa, ON, K1G 5Z3, Canada.

Background: We describe early health services utilization for children diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency through newborn screening in Ontario, Canada, relative to a screen negative comparison cohort.

Methods: Eligible children were identified via newborn screening between April 1, 2006 and March 31, 2010. Age-stratified rates of physician encounters, emergency department (ED) visits and inpatient hospitalizations to March 31, 2012 were compared using incidence rate ratios (IRR) and incidence rate differences (IRD). We used negative binomial regression to adjust IRRs for sex, gestational age, birth weight, socioeconomic status and rural/urban residence.

Results: Throughout the first few years of life, children with MCAD deficiency (n = 40) experienced statistically significantly higher rates of physician encounters, ED visits, and hospital stays compared with the screen negative cohort. The highest rates of ED visits and hospitalizations in the MCAD deficiency cohort occurred from 6 months to 2 years of age (ED use: 2.1-2.5 visits per child per year; hospitalization: 0.5-0.6 visits per child per year), after which rates gradually declined.

Conclusions: This study confirms that young children with MCAD deficiency use health services more frequently than the general population throughout the first few years of life. Rates of service use in this population gradually diminish after 24 months of age.
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http://dx.doi.org/10.1186/s13023-019-1001-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6431026PMC
March 2019

Paediatricians underuse recommended genetic tests in children with global developmental delay.

Paediatr Child Health 2018 Dec 5;23(8):e156-e162. Epub 2018 Apr 5.

Research Center, CHU Sainte-Justine, Montréal, Quebec.

Objectives: To assess paediatricians' use of genetic testing for children with global developmental delay (GDD).

Study Design: We developed and piloted a questionnaire assessing the use of genetic tests in children with GDD and awareness of relevant guidelines. All practicing Quebec paediatricians were contacted. Paediatricians who did not evaluate children with GDD in their practice were excluded. Descriptive and statistical analyses were performed with SPSS.

Results: Of the 651 paediatricians, 225 answered (34.5%) and 141 were eligible. Only 31.9% were familiar with at least one guideline about genetic tests for the investigation of children with GDD, but 93.6% had ordered genetic testing for children with GDD (Fragile X testing [92.9%], karyotype [87.2%] and chromosomal microarray [63.8%]). Based on vignettes, 20.6% of participants would order genetic tests for isolated GDD and 95.0% for GDD with dysmorphic features and microcephaly. Only 56.7% ordered Fragile X testing for a girl with GDD and a known family history of Fragile X syndrome. Use of tests for isolated GDD was increased in presence of maternal pregnancy, compared with absence of pregnancy (44.7% and 27.7%, respectively). More participants would order genetic tests for a child with GDD and fetal exposure to alcohol (69.5%) than isolated GDD (20.6%).

Conclusions: Even though paediatricians often order genetic testing for children with GDD, practices and knowledge regarding testing are not optimal. As new and more complex genetic tests are developed, up-to-date training about the use of genetic tests for children with GDD needs to be integrated into paediatrics residency programs and continuous medical education.
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http://dx.doi.org/10.1093/pch/pxy033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6241916PMC
December 2018

Canadian Pregnant Women's Preferences Regarding NIPT for Down Syndrome: The Information They Want, How They Want to Get It, and With Whom They Want to Discuss It.

J Obstet Gynaecol Can 2019 Jun 7;41(6):782-791. Epub 2019 Feb 7.

Bioethics Program, Department of Social and Preventive Medicine, School of Public Health, Université de Montréal, Montréal, QC.

Objective: This study sought to assess Canadian pregnant women's and their partners' preferences for information about non-invasive prenatal testing (NIPT).

Methods: Pregnant women and their partners across Canada were surveyed as part of the Personalized Genomics for prenatal Aneuploidy Screening Using maternal blood (PEGASUS) study.

Results: A total of 882 pregnant women and 395 partners participated. Women preferred being informed by a physician (77.2%). They preferred getting information ahead of time, except for information about resources for families with Down syndrome, which they preferred getting with test results. More than half thought that written consent is important (63.7%) and could decide whether to do NIPT on the day they received the information (54.9%). Women preferred to be informed of results by telephone (43.7%) or in person (28%), but they preferred in person if they were considered at high risk for Down syndrome on the basis of the results (76%). The partner was the person whose input was considered most important (62.6%). Partners' preferences were similar, except that partners tended to want information later (at the time of the test or with the results) and felt that their opinion was not considered as highly by health professionals.

Conclusion: Canadian women want information about NIPT early, in person, by a knowledgeable physician. Partners also want to be informed and involved in the decision-making process.
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http://dx.doi.org/10.1016/j.jogc.2018.11.003DOI Listing
June 2019

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.

Am J Med Genet A 2019 03 16;179(3):386-396. Epub 2019 Jan 16.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

The ryanodine receptor 1 (RYR1) is a calcium release channel essential for excitation-contraction coupling in the sarcoplasmic reticulum of skeletal muscles. Dominant variants in the RYR1 have been well associated with the known pharmacogenetic ryanodinopathy and malignant hyperthermia. With the era of next-generation gene sequencing and growing number of causative variants, the spectrum of ryanodinopathies has been evolving with dominant and recessive variants presenting with RYR1-related congenital myopathies such as central core disease, minicore myopathy with external ophthalmoplegia, core-rod myopathy, and congenital neuromuscular disease. Lately, the spectrum was broadened to include fetal manifestations, causing a rare recessive and lethal form of fetal akinesia deformation sequence syndrome (FADS)/arthrogryposis multiplex congenita (AMC) and lethal multiple pterygium syndrome. Here we broaden the spectrum of clinical manifestations associated with homozygous/compound heterozygous RYR1 gene variants to include a wide range of manifestations from FADS through neonatal hypotonia to a 35-year-old male with AMC and PhD degree. We report five unrelated families in which three presented with FADS. One of these families was consanguineous and had three affected fetuses with FADS, one patient with neonatal hypotonia who is alive, and one individual with AMC who is 35 years old with normal intellectual development and uses a wheelchair. Muscle biopsies on these cases demonstrated a variety of histopathological abnormalities, which did not assist with the diagnostic process. Neither the affected living individuals nor the parents who are obligate heterozygotes had history of malignant hyperthermia.
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http://dx.doi.org/10.1002/ajmg.a.61025DOI Listing
March 2019

The value of non-invasive prenatal testing: preferences of Canadian pregnant women, their partners, and health professionals regarding NIPT use and access.

BMC Pregnancy Childbirth 2019 Jan 10;19(1):22. Epub 2019 Jan 10.

, CHU Sainte-Justine Research Center, Montreal, Canada.

Background: Canadian policies regarding the implementation and public coverage of non-invasive prenatal testing (NIPT) are heterogeneous and shifting, with NIPT being publicly covered for high-risk pregnancies in some provinces, but not others. Such a diverse and evolving policy landscape provides fertile ground for examining the preferences of pregnant women, their partners, and health professionals regarding the implementation and coverage of NIPT by the public healthcare system, as well as the factors influencing their preferences, which is what the present study does.

Methods: In this paper, we report the results of three-large scale Canadian surveys, in which 882 pregnant women, 395 partners of pregnant women, and 184 healthcare professionals participated.

Results: The paper focuses on preferences regarding how and when NIPT should be used, as well as the factors influencing these preferences, and how coverage for NIPT should be provided. These are correlated with respondents' levels of knowledge about Down syndrome and testing technologies and with their stated intended use of NIPT results.

Conclusion: Salient is the marked difference between the preferences of prospective parents and those of healthcare professionals, which has potential implications for Canadian policy regarding NIPT implementation and insurance coverage.
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http://dx.doi.org/10.1186/s12884-018-2153-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327577PMC
January 2019

Pre-implantation Genetic Diagnosis: The Road Forward in Canada.

J Obstet Gynaecol Can 2019 Jan 22;41(1):68-71. Epub 2018 Oct 22.

Centre of Genomics and Policy, Department of Human Genetics, McGill University, Montréal, QC.

The use of pre-implantation genetic diagnosis (PGD) is increasing as the list of indications it can test for constantly expands. This raises new challenges for clinicians and prospective parents regarding possible uses and calls for guidance. Policy approaches towards PGD vary greatly worldwide. The 2004 Canadian Assisted Human Reproduction Act does not provide guidance, except for prohibiting non-medical sex selection. Criminal legislation is an unsuitable policy instrument to regulate human genetics and reproductive medicine. We call for professional societies to issue guidelines regarding the uses of PGD that would establish the standard of care and legal norms. Such guidelines should be based on a patient-centered approach and respect individual autonomy in reproductive decision-making. Canadian approaches to PGD should also consider issues related to equity of access. Moreover, since PGD often raises concerns about eugenic uses, guidelines should also consider its societal impact and its implementation should be accompanied by policies that maintain or increase social support for people with disabilities. Finally, public engagement could provide an evidence-base regarding Canadian societal values and concerns that should guide regulatory reform, for example, the regulation of non-medical sex selection through PGD.
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http://dx.doi.org/10.1016/j.jogc.2018.08.001DOI Listing
January 2019

Diagnostic and Therapeutic Misconception: Parental Expectations and Perspectives Regarding Genetic Testing for Developmental Disorders.

J Autism Dev Disord 2019 Jan;49(1):363-375

Division of Neonatology of the CHU Sainte-Justine, Department of Pediatrics of the Université de Montréal, Palliative Care Unit, Clinical Ethics Unit, CHU Sainte-Justine Research Center, Bureau de l'éthique clinique, Unité de recherche en éthique clinique et partenariat famille (UREPAF), 3175 chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T 1C5, Canada.

Parents' understanding/expectations regarding genetic testing for children with developmental disorders were explored. Within a month of testing, interviews were conducted with 57 parents. Many (74%) could not recall the nature of testing. Parents expected genetic testing to have positive impacts for the child (93%) and the family (98%), mainly to find the etiology and/or an intervention. Many parents (40%) reported not knowing their child's clinical diagnosis. They expected genetic testing would establish the diagnosis. Parents anticipated potential negative impacts of testing for children (78%) and families (87%), mainly finding another illness or not finding potential interventions. Abnormal results explaining the disorder were found in 9% of children. In summary, genetic results for developmental disorders are unlikely to meet parental expectations.
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http://dx.doi.org/10.1007/s10803-018-3768-6DOI Listing
January 2019

Obstetric and cardiac outcomes in women with Marfan syndrome and an aortic root diameter ≤ 45mm.

Eur J Obstet Gynecol Reprod Biol 2018 Nov 11;230:68-72. Epub 2018 Sep 11.

Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Sainte-Justine University Hospital, Qc,Canada; Université de Montréal, QC, Canada. Electronic address:

Objective: To assess obstetric and aortic outcomes in women with Marfan Syndrome according to aortic root diameter, in view of recommendations for caesarean delivery when the aortic root diameter is ≥40 mm in the 2010 American guidelines versus >45 mm in the 2011 European guidelines.

Study Design: In this retrospective cohort study conducted at Sainte-Justine Mother and Child Tertiary Hospital, 27 pregnancies in 20 women with Marfan Syndrome as defined by the international criteria, were followed prospectively between 1994 and 2017, after excluding women with prior aortic surgery. Obstetric and aortic outcomes were compared in 2 groups according to aortic root diameter: < 40 mm (21 pregnancies) and 40-45 mm (6 pregnancies).

Results: 21/27 women had a vaginal delivery. The caesarean section rate was 23.8% and 16.7% in women with diameter <40 mm and 40-45 mm respectively (p-value = 1), and perinatal outcome was similar across groups. Two women with a prepregnancy aortic root diameter <40 mm developed an acute type B dissection during the third trimester. Both had a family history of aortic dissection.

Conclusions: Vaginal delivery with rigorous pain control and avoidance of Valsalva maneuver may be safely considered in women with Marfan Syndrome and an aortic root diameter ≤45 mm. The risk of type B aortic dissection during pregnancy is hard to predict. Other factors such as family history of dissection and descending aorta size may play an important role, and this may modify our counselling.
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http://dx.doi.org/10.1016/j.ejogrb.2018.09.012DOI Listing
November 2018

The CANadian Pediatric Weight management Registry (CANPWR): lessons learned from developing and initiating a national, multi-centre study embedded in pediatric clinical practice.

BMC Pediatr 2018 07 19;18(1):237. Epub 2018 Jul 19.

Credit Valley Hospital, Mississauga, ON, Canada.

Background: There is increasing recognition of the value of "real-world evidence" in evaluating health care services. Registry-based, observational studies conducted in clinical settings represent a relevant model to achieve this directive. Starting in 2010, we undertook a longitudinal, observational study (the CANadian Pediatric Weight management Registry [CANPWR]), which is embedded in 10 multidisciplinary, pediatric weight management clinics across Canada. The objective of this paper was to share the lessons our team learned from this multi-centre project.

Methods: Data sources included a retrospective review of minutes from 120 teleconferences with research staff and investigators, notes taken during clinical site visits made by project leaders, information from quality control processes to ensure data accuracy and completeness, and a study-specific survey that was sent to all sites to solicit feedback from research team members (n = 9). Through an iterative process, the writing group identified key themes that surfaced during review of these information sources and final lessons learned were developed.

Results: Several key lessons emerged from our research, including the (1) value of pilot studies and central research coordination, (2) need for effective and regular communication, (3) importance of consensus on determining outcome measures, (4) challenge of embedding research within clinical practice, and (5) difficulty in recruiting and retaining participants. The sites were, in spite of these challenges, enthusiastic about the benefits of participating in multi-centre collaborative studies.

Conclusion: Despite some challenges, multi-centre observational studies embedded in pediatric weight management clinics are feasible and can contribute important, practical insights into the effectiveness of health services for managing pediatric obesity in real-world settings.
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http://dx.doi.org/10.1186/s12887-018-1208-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053829PMC
July 2018

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.

Brain 2018 08;141(8):2299-2311

Département de Génétique, Hôpital La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.

The transcription factor BCL11B is essential for development of the nervous and the immune system, and Bcl11b deficiency results in structural brain defects, reduced learning capacity, and impaired immune cell development in mice. However, the precise role of BCL11B in humans is largely unexplored, except for a single patient with a BCL11B missense mutation, affected by multisystem anomalies and profound immune deficiency. Using massively parallel sequencing we identified 13 patients bearing heterozygous germline alterations in BCL11B. Notably, all of them are affected by global developmental delay with speech impairment and intellectual disability; however, none displayed overt clinical signs of immune deficiency. Six frameshift mutations, two nonsense mutations, one missense mutation, and two chromosomal rearrangements resulting in diminished BCL11B expression, arose de novo. A further frameshift mutation was transmitted from a similarly affected mother. Interestingly, the most severely affected patient harbours a missense mutation within a zinc-finger domain of BCL11B, probably affecting the DNA-binding structural interface, similar to the recently published patient. Furthermore, the most C-terminally located premature termination codon mutation fails to rescue the progenitor cell proliferation defect in hippocampal slice cultures from Bcl11b-deficient mice. Concerning the role of BCL11B in the immune system, extensive immune phenotyping of our patients revealed alterations in the T cell compartment and lack of peripheral type 2 innate lymphoid cells (ILC2s), consistent with the findings described in Bcl11b-deficient mice. Unsupervised analysis of 102 T lymphocyte subpopulations showed that the patients clearly cluster apart from healthy children, further supporting the common aetiology of the disorder. Taken together, we show here that mutations leading either to BCL11B haploinsufficiency or to a truncated BCL11B protein clinically cause a non-syndromic neurodevelopmental delay. In addition, we suggest that missense mutations affecting specific sites within zinc-finger domains might result in distinct and more severe clinical outcomes.
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http://dx.doi.org/10.1093/brain/awy173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061686PMC
August 2018

Secondary findings from next-generation sequencing: what does actionable in childhood really mean?

Genet Med 2019 01 6;21(1):124-132. Epub 2018 Jun 6.

Department of Pediatrics, Université de Montréal, Montréal, Quebec, Canada.

Purpose: We aimed to assess the definition of actionability of secondary findings in childhood, using a screening framework.

Methods: For 31 disorders on the American College of Medical Genetics and Genomics SF v.2.0 list, World Health Organization screening criteria were applied to assess actionability in childhood.

Results: The age of onset was variable. We categorized disorders based on the proportion of cases that presented in childhood: rare (n = 6), fewer than half the cases (n = 9), the majority of cases (n = 12), or unclear (n = 4). The age at initiation of intervention was based on the youngest age of onset reported, not evidence of the benefit of early intervention. For 15 disorders, guidelines were supported by a moderate quality of evidence for at least one recommendation. Only tuberous sclerosis complex had recommendations based on high-quality evidence. All others were based on evidence of low or very low quality.

Conclusion: We propose that actionability in childhood should be based on the proportion of cases that manifest in childhood and the quality of the evidence supporting intervention recommendations. Ideally, disclosure in childhood would be limited to disorders for which a majority of cases present in childhood and for which interventions are supported by evidence of at least moderate quality (i.e., multiple endocrine neoplasia type 2, retinoblastoma, tuberous sclerosis complex, Marfan syndrome, and Wilson's disease).
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http://dx.doi.org/10.1038/s41436-018-0034-4DOI Listing
January 2019

Cross-cultural perspectives on decision making regarding noninvasive prenatal testing: A comparative study of Lebanon and Quebec.

AJOB Empir Bioeth 2018 Apr-Jun;9(2):99-111

g Bioethics Program, Department of Social and Preventive Medicine , School of Public Health, Université de Montréal.

Noninvasive prenatal testing (NIPT), based on the detection of cell-free fetal DNA in maternal blood, has transformed the landscape of prenatal care by offering clinical benefits (noninvasive, high specificity and sensitivity, early detection of abnormalities) compared to existing prenatal screening tests. NIPT has expanded rapidly and is currently commercially available in most of the world. As NIPT spreads globally, culturally sensitive and ethically sound implementation will require policies that take into consideration the social and cultural context of prenatal testing decisions. In a Western context, the main ethical argument for providing access and public funding of prenatal tests is the promotion of reproductive autonomy (also referred to as "procreative liberty" and "reproductive freedom"), by enabling pregnant women and couples to access information about the fetus in order to choose a certain course of action for pregnancy management (continuation of pregnancy and preparation for birth or termination). So how is the framework of reproductive autonomy operationalized in non-Western cultural contexts? We used Quebec, Canada, and Beirut, Lebanon, for case studies to explore what ethical considerations related to reproductive autonomy should guide the implementation of the test in various cultural contexts. To answer this question, we conducted a qualitative study to (1) explore the perceptions, values, and preferences of pregnant women and their partners about NIPT and (2) examine how these values and perceptions influence reproductive autonomy and decision making in relation to NIPT in these two different cultural settings, Lebanon and Quebec. Our findings may guide health care professionals in providing counseling and in helping women and their partners make better informed prenatal testing decisions. Further, at a policy level, such understanding might inform the development of local guidelines and policies that are appropriate to each context.
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http://dx.doi.org/10.1080/23294515.2018.1469551DOI Listing
November 2019

Paediatricians' expectations and perspectives regarding genetic testing for children with developmental disorders.

Acta Paediatr 2018 05 24;107(5):838-844. Epub 2018 Jan 24.

CHU Sainte-Justine Research Center, Montréal, QC, Canada.

Aim: To investigate paediatricians' expectations and perspectives of genetic testing for children with developmental disorders.

Methods: Paediatricians working in a developmental clinic were surveyed each time they ordered a chromosomal microarray (CMA) for a child with developmental disorders. Clinical charts were reviewed. Results were analysed using mixed methodology.

Results: Ninety-seven % (73/76) of surveys were completed. Paediatricians reported that 36% of parents had difficulties understanding genetic testing and that 40% seemed anxious. The majority expected testing to have positive impacts on children/families. The themes raised were (i) clarifying the diagnosis (56%), (ii) understanding the aetiology of the condition (55%), (iii) enabling prenatal diagnosis/counselling (43%), (iv) improving medical care for the child (15%) and (v) decreasing parental guilt/anxiety (8%). Less than half anticipated negative impacts; 74% expected that the most helpful result for their patient would be an abnormal result explaining the disorder. Among the 73 children for whom CMA was ordered, 81% got tested: 66% of the results were normal, 19% were abnormal and contributed to explain the condition and 12% were abnormal but of unknown significance.

Conclusion: Paediatricians generally expect many positive and less negative impacts of genetic testing for children with developmental disorders. Parental perspectives are needed.
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http://dx.doi.org/10.1111/apa.14203DOI Listing
May 2018

Recommending inclusion of HFE C282Y homozygotes in the ACMG actionable gene list: cop-out or stealth move toward population screening?

Genet Med 2018 Apr 19;20(4):400-402. Epub 2017 Oct 19.

Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1038/gim.2017.161DOI Listing
April 2018
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