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Introduction: Primary care providers (PCP) will need to be integrally involved in the delivery of genomic medicine. The GenetiKit trial demonstrated effectiveness of a knowledge translation intervention on family physicians' (FP) genetics referral decision-making. Most wanted to continue receiving Gene Messengers (GM), evidence-based summaries of new genetic tests with primary care recommendations. Our objective was to determine the value of GMs as a continuing education (CE) strategy in genomic medicine for FPs. Methods: Using a "push" model, we invited 19,060 members of the College of Family Physicians of Canada to participate. Participants read GMs online, receiving 12 emailed topics over 6 months. Participants completed an online Information Assessment Method questionnaire evaluating GMs on four constructs: cognitive impact, relevance, intended use of information for a patient, and expected health benefits. Results: One thousand four hundred two FPs participated, 55% rated at least one GM. Most (73%) indicated their practice would be improved after reading GMs, with referral to genetics ranked highly. Of those who rated a GM relevant, 94% would apply it to at least one patient and 79% would expect health benefits. This method of CE was found useful for genetics by 88% and 94% wanted to continue receiving GMs. Discussion: FPs found this novel CE strategy, brief individual reflective e-learning, to be valuable for learning about genetics. This method of information delivery may be an especially effective method for CE in genomic medicine where discoveries occur at a rapid pace and lack of knowledge is a barrier to integration of genetic services. [ABSTRACT FROM AUTHOR]

Background Our randomized controlled trial (The BETTER Trial) found that training a clinician to become a Prevention Practitioner (PP) in family practices improved chronic disease prevention and screening (CDPS). PPs were trained on CDPS and provided prevention prescriptions tailored to participating patients. For this embedded qualitative study, we explored perceptions of this new role to understand the PP intervention. Methods We used grounded theory methodology and purposefully sampled participants involved in any capacity with the BETTER Trial. Two physicians and one coordinator in each of two cities (Toronto, Ontario and Edmonton, Alberta) conducted eight individual semi-structured interviews and seven focus groups. We used an interview guide and documented research activities through an audit trail, journals, field notes and memos. We analyzed the data using the constant comparative method throughout open coding followed by theoretical coding. Results A framework and process involving external and internal practice facilitation using the new role of PP was thought to impact CDPS. The PP facilitated CDPS through on-going relationships with patients and practice team members. Key components included: 1) approaching CDPS in a comprehensive manner, 2) an individualized and personalized approach at multiple levels, 3) integrated continuity that included linking the patients and practices to CPDS resources, and 4) adaptability to different practices and settings. Conclusions The BETTER framework and key components are described as impacting CDPS through a process that involved a new role, the PP. The introduction of a novel role of a clinician within the primary care practice with skills in CDPS could appropriately address gaps in prevention and screening. [ABSTRACT FROM AUTHOR]

The article discusses the differences between the previous and updated Canadian guidelines for breast cancer screening in practice. It examines how average risk is defined by the Task Force on Preventive Health Care. It cites changes in the updated guidelines on breast cancer screening. The article also offers information on how screening should be done for women at higher risk.

Presents a study to determine the influence of practice location on Ontario health care providers' use of and opinions regarding the Ontario Maternal Serum Screening (MSS) Program, according to follow-up services and recommendations about the program. Methods; Results; Health care providers in northern and rural areas being less likely to offer MSS; Concern about the social and cultural sensitivity of MSS.

Highlights the results of a cross-sectional self-reported survey to determine the practices, knowledge and opinions of health care providers regarding a prenatal genetic screening program in Ontario. Options for testing; Consistency of responses; Early identification of abnormalities; Increased choice of women; Detection of Down Syndrome.

The authors discuss the feminization of family medicine in Canada. According to them, the female family physicians (FPs) outnumber the male physicians, accounting for 50.6 percent of the specialty. They discuss report from the studies, according to which, the female FPs have longer patient visits than males and engage in more patient-centred communication.

OBJECTIVES: Newborn screening (NBS) programs may store bloodspot samples and use them for secondary purposes. Recent public controversies and lawsuits over storage and secondary uses underscore the need to engage the public on these issues. We explored Canadian values regarding storage and use of NBS samples for various purposes and the forms of parental choice for anonymous research with NBS samples. METHODS: We conducted a mixed-methods, public engagement study comprising 8 focus groups (n = 60), an educational component, deliberative discussion, and pre- and post-questionnaires assessing knowledge and values toward storage and parental choice. RESULTS: Canadian citizens supported the storage of NBS samples for quality control, confirmatory diagnosis, and future anonymous research (>90%). There was broad support for use of NBS samples for anonymous research; however, opinions were split about the extent of parental decision-making. Support for a "routinized" approach rested on trust in authorities, lack of concern for harms, and an assertion that the population's interest took priority over the interests of individuals. Discomfort stemmed from distrust in authorities, concern for harms, and prioritizing individual interests, which supported more substantive parental choice. Consensus emerged regarding the need for greater transparency about the storage and secondary use of samples. CONCLUSIONS: Our study provides novel insights into the values that underpin citizens' acceptance and discomfort with routine storage of NBS samples for research, and supports the need to develop well- designed methods of public education and civic discourse on the risks and benefits of the retention and secondary use of NBS samples. [ABSTRACT FROM AUTHOR]

OBJECTIVES: Retaining residual newborn screening (NBS] bloodspots for medical research remains contentious. To inform this debate, we sought to understand public preferences for, and reasons for preferring, alternative policy options. METHODS: We assessed preferences among 4 policy options for research use of residual bloodspots through a bilingual national Internet survey of a representative sample of Canadians. Fifty percent of respondents were randomly assigned to select reasons supporting these preferences. Understanding of and attitudes toward screening and research concepts, and demographics were assessed. RESULTS: Of 1102 respondents (94% participation rate; 47% completion rate], the overall preference among policy options was ask permission (67%]; this option was also the most acceptable choice (80%]. Assume permission was acceptable to 46%, no permission required was acceptable to 29%, and no research allowed was acceptable to 26%. The acceptability of the ask permission option was reduced among participants assigned to the reasoning exercise (84% vs 76%; P = .004]. Compared with assume/no permission required, ordered logistic regression showed a significant reduction in preference for the ask permission option with greater understanding of concepts (odds ratio, 0.87; P < .001], greater confidence in science (odds ratio, 0.16; P < .001], and a perceived responsibility to contribute to research (odds ratio, 0.39; P < .001]. CONCLUSIONS: Surveyed Canadians prefer that explicit permission is sought for storage and research use of NBS bloodspots. This preference was diminished when reasons supporting and opposing routine storage, and other policy options, were presented. Findings warrant consideration as NBS communities strategize to respond to shifting legislative contexts. [ABSTRACT FROM AUTHOR]

Introduction: Genetic testing is used across medical disciplines leading to unprecedented demand for genetic services. This has resulted in excessive waitlists and unsustainable pressure on the standard model of genetic healthcare. Alternative models are needed; e-health tools represent scalable and evidence-based solution. We aim to evaluate the effectiveness of the Genetics Navigator, an interactive patient-centred digital platform that supports the collection of medical and family history, provision of pregenetic and postgenetic counselling and return of genetic testing results across paediatric and adult settings., Methods and Analysis: We will evaluate the effectiveness of the Genetics Navigator combined with usual care by a genetics clinician (physician or counsellor) to usual care alone in a randomised controlled trial. One hundred and thirty participants (adults patients or parents of paediatric patients) eligible for genetic testing through standard of care will be recruited across Ontario genetics clinics. Participants randomised into the intervention arm will use the Genetics Navigator for pretest and post-test genetic counselling and results disclosure in conjunction with their clinician. Participants randomised into the control arm will receive usual care, that is, clinician-delivered pretest and post-test genetic counselling, and results disclosure. The primary outcome is participant distress 2 weeks after test results disclosure. Secondary outcomes include knowledge, decisional conflict, anxiety, empowerment, quality of life, satisfaction, acceptability, digital health literacy and health resource use. Quantitative data will be analysed using statistical hypothesis tests and regression models. A subset of participants will be interviewed to explore user experience; data will be analysed using interpretive description. A cost-effectiveness analysis will examine the incremental cost of the Navigator compared with usual care per unit reduction in distress or unit improvement in quality of life from public payer and societal perspectives., Ethics and Dissemination: This study was approved by Clinical Trials Ontario. Results will be shared through stakeholder workshops, national and international conferences and peer-reviewed journals., Trial Registration Number: NCT06455384., Competing Interests: Competing interests: YB and MC are cofounders of Genetics Adviser., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Infectious outbreaks are known to cause fear and panic. Exploration of pregnant individuals' psychosocial condition using a qualitative lens during an infectious outbreak is limited. In this study we explore pregnant individuals' lived experiences as well as their psychological and behavioural responses during COVID-19 with the goal of providing useful strategies from the patient's perspective to enable health care providers to help pregnant patients navigate this and future pandemics., Methods: Pregnant individuals between 20-weeks gestation and 3 months postpartum who received maternity care from an urban academic interprofessional teaching unit in Toronto, Canada were invited to participate. Semi-structured 60 min interviews were audio-recorded, transcribed and analyzed using descriptive thematic analysis. Interview questions probed psychological responses to the pandemic, behavioural and lifestyle changes, strategies to mitigate distress while pregnant during COVID-19 and advice for other patients and the healthcare team., Results: There were 12 participants, mean age 35 years (range 30-43 years), all 1 to 6 months postpartum. Six main themes emerged: 1) Childbearing-related challenges to everyday life; 2) Increased worry, uncertainty and fear; 3) Pervasive sense of loss; 4) Challenges accessing care; 5) Strategies for coping with pandemic stress; 6) Reflections and advice to other pregnant people and health care professionals. Pregnant individuals described lack of social support due to COVID-19 pandemic restrictions and a profound sense of loss of what they thought their pregnancy and postpartum period should have been. Advice to healthcare providers included providing mental health support, clear and up to date communication as well as more postpartum and breastfeeding support., Conclusions: These participants described experiencing psychosocial distress during their pregnancies and postpartum. In a stressful situation such as a global pandemic, health care providers need to play a pivotal role to ensure pregnant individuals feel supported and receive consistent care throughout the pregnancy and postpartum period. The health care provider should ensure that mental health concerns are addressed and provide postpartum and breastfeeding support. Without addressing this need for support, parental mental health, relationships, parent-infant bonding, and infant development may be negatively impacted., (© 2021. The Author(s).)

Growing discussion on the use of whole-genome or exome sequencing (WG/ES) in newborn screening (NBS) has raised concerns regarding the generation of incidental information on millions of infants annually. It is unknown whether integrating WG/ES would alter public expectations regarding participation in universal NBS. We assessed public willingness to participate in NBS using WG/ES compared with current NBS. Our secondary objective was to assess the public's beliefs regarding a parental responsibility to participate in WG/ES-based NBS compared with current NBS. We examined self-reported attitudes regarding willingness to participate in NBS using a cross-sectional national survey of Canadian residents recruited through an internet panel, reflective of the Canadian population by age, gender and region. Our results showed that fewer respondents would be willing to participate in NBS using WG/ES compared with NBS using current technologies (80 vs 94%, P<0.001), or perceived a parental responsibility to participate in WG/ES-based NBS vs current NBS (30 vs 48%, P<0.001). Our findings suggest that integrating WG/ES into NBS might reduce participation, and challenge the moral authority that NBS programmes rely upon to ensure population benefits. These findings point to the need for caution in the untargeted use of WG/ES in public health contexts.

Background: Family physicians (FPs) are increasingly involved in delivering genetic services. Familiarization with aspects of genetic counseling may enable FPs to help patients make informed choices., Purpose: Exploration of interactive role-play as a means to raise FPs' awareness of the process and content of genetic counseling., Methods: FPs attending two large Canadian family medicine conferences in 2005 were eligible -- 93 participated. FPs discussed a case during a one-on-one session with a genetic counselor. Evaluation involved pre and post intervention questionnaires, Results: FPs' baseline genetic knowledge was self-rated as uniformly poor. Baseline confidence was highest in eliciting family history and providing psychosocial support and lowest in discussing risks/benefits of genetic testing and counseling process. Post-intervention, 80% of FPs had better appreciation of family history and 97% indicated this was an effective learning experience., Conclusions: Role-play with FPs is effective in raising awareness of the process and content of genetic counseling and may be applied to other health disciplines.

Objective: To investigate the knowledge, professional involvement and confidence of Canadian nurses and physicians in providing genetic services for adult onset hereditary disease., Methods: 1,425 physicians and 1,425 nurses received a mailed questionnaire with reminders. The response rates were 50% (n = 543) and 79% (n = 975), respectively., Results: Forty-eight percent of physicians and 31% of nurses lacked formal education in genetics. Respondents reported being involved in caring for people at risk for adult onset hereditary disease. Their levels of confidence that they could perform tasks, such as counselling about predictive genetic tests, however, were lower than their levels of expectation that it would be important for them to provide these services., Conclusions: The expected roles and educational needs of Canadian nurses and physicians have broad areas of overlap suggesting the possibility of combined professional education programs and multiple ways of organizing teams to provide genetic services to people at risk for adult onset hereditary disease., (Copyright 2005 S. Karger AG, Basel.)

With developments in genomics, there is an urgent need for Canadian nurses in all settings to be informed and involved in the incorporation of this new knowledge into healthcare. The purpose of this paper was to synthesize the literature on genetic nursing roles to provide a foundation for Canadian nursing leaders as they take on the challenges of nursing in the genomic era. A comprehensive review of 98 articles published between 1994 and 2004 revealed strong support for genetic nursing roles and recommendations for levels of genetic nursing practice. The few studies on genetic nursing roles suggested that nurses and other health professionals support the integration of genomics into nursing practice. Issues that need to be addressed related to nursing practice, education and research are offered to engage nursing leaders in advocating for the incorporation of genomics into nursing in Canada.