Canadian College of Medical Geneticists (CCMG) points to consider: resuming genetic services in a pandemic-a summary.

The COVID-19 pandemic has disrupted the provision of genetic care in Canada. With the public health effort to flatten the curve, many clinics have moved to virtual care for select populations of patients while triaging and postponing others. As genetic services are asked to gradually resume, a roadmap is needed to ensure clinical care decisions for at-risk patients are transparent and equitable, that postponed care is resumed and that patients with or waiting for a genetic diagnosis are not disproportionately affected or abandoned.The purpose of this document is to highlight the guiding ethical principles and stakeholder considerations in resuming genetic services to help guide the competing needs going forward of both limiting exposures while maintaining high-quality care. Considerations highlighted are (1) environment of practice, (2) nature of consult, (3) patient factors, (4) provider factors, and (5) laboratory factors. The intended users are those providing genetic care in a Canadian context with the recognition that there are clinic-specific and regional variations that will influence decision-making. While specific to the Canadian context, the ethical principles used to guide these decisions would be relevant for consideration in other jurisdictions.

Rapid deployment of a telemedicine care model for genetics and metabolism during COVID-19.

The national importance of telemedicine for safe and effective patient care has been highlighted by the current COVID-19 pandemic. Prior to the 2020 pandemic the Division of Genetics and Metabolism piloted a telemedicine program focused on initial and follow-up visits in the patients' home. The goals were to increase access to care, decrease missed work, improve scheduling, and avoid the transport and exposure of medically fragile patients. Visits were conducted by physician medical geneticists, genetic counselors, and biochemical dietitians, together and separately. This allowed the program to develop detailed standard operating procedures. At the onset of the COVID-19 pandemic, this pilot-program was deployed by the full team of 22 providers in one business day. Two physicians remained on-site for patients requiring in-person evaluations. This model optimized patient safety and workforce preservation while providing full access to patients during a pandemic. We provide initial data on visit numbers, types of diagnoses, and no-show rates. Experience in this implementation before and during the pandemic has confirmed the effectiveness and value of telemedicine for a highly complex medical population. This program is a model that can and will be continued well-beyond the current crisis.

Roadmap for Establishing Large-Scale Genomic Medicine Initiatives in Low- and Middle-Income Countries.

In the post-genomic era, genomic medicine interventions as a key component of personalized medicine and tailored-made health care are greatly anticipated following recent scientific and technological advances. Indeed, large-scale sequencing efforts that explore human genomic variation have been initiated in several, mostly developed, countries across the globe, such as the United States, the United Kingdom, and a few others. Here, we highlight the successful implementation of large-scale national genomic initiatives, namely the Genome of Greece (GoGreece) and the DNA do Brasil (DNABr), aiming to emphasize the importance of implementing such initiatives in developing countries. Based on this experience, we also provide a roadmap for replicating these projects in other low-resource settings, thereby bringing genomic medicine in these countries closer to clinical fruition.

Genetics and genomic medicine in Iran.

Attention has been focused on the field of genetics and genomics in Iran in recent years and some efforts have been enforced and implemented. However, they are totally not adequate, considering the advances in medical genetics and genomics in the past two decades around the world. Overall, considering the lack of medical genetics residency programs in the Iranian health education system, big demand due to high consanguinity and intraethnic marriages, there is a lag in genetic services and necessity to an immediate response to fill this big gap in Iran. As clarified in the National constitution fundamental law and re-emphasized in the 6th National Development Plan, the Iranian government authority is in charge of providing the standard level of health including genetic services to all Iranian individuals who are in need.

An International Summit in Human Genetics and Genomics: Empowering clinical practice and research in developing countries.

To help fill the knowledge gap in human genetics and genomics, an International Summit (IS) in Human Genetics and Genomics was conceived and organized by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) as a 5-year initiative, from 2016 to 2020. In its first 3 years, 71 professionals from 34 countries received training.

Integrating Genomics into Healthcare: A Global Responsibility.

Genomic sequencing is rapidly transitioning into clinical practice, and implementation into healthcare systems has been supported by substantial government investment, totaling over US$4 billion, in at least 14 countries. These national genomic-medicine initiatives are driving transformative change under real-life conditions while simultaneously addressing barriers to implementation and gathering evidence for wider adoption. We review the diversity of approaches and current progress made by national genomic-medicine initiatives in the UK, France, Australia, and US and provide a roadmap for sharing strategies, standards, and data internationally to accelerate implementation.

Genetic counseling in industry settings: Opportunities in the era of precision health.

The skill sets of genetic counselors are strongly utilized in industry, as evidenced by 20% of genetic counselors reporting employment within industry in 2016. In addition, industry genetic counselors are expanding their roles, taking on new responsibilities, and creating new opportunities. These advances have impacted the profession as a whole including, but not limited to, genetic counseling training curricula, a shift back to genetic counseling directly to patients, and a growing influence of genetic counselors on industry test offerings. Industry genetic counselors and training programs are working together to address the challenges and opportunities presented by workforce changes and novel interpretations of how genetic counselors' core competencies can be utilized. Counseling of patients by industry genetic counselors has become more commonplace and addresses a need for alternate service delivery models. Industry genetic counselors often provide significant contributions to test development, education, marketing, and interpretation. Beyond these broad examples, individual industry genetic counselors have created unique niches for themselves, using their genetic counseling training combined with unique opportunities offered through industry, as illustrated by genetic counselors' various roles and responsibilities highlighted here.

'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases.

The International Rare Diseases Research Consortium (IRDiRC) has created a quality label, 'IRDiRC Recognized Resources', formerly known as 'IRDiRC Recommended'. It is a peer-reviewed quality indicator process established based on the IRDiRC Policies and Guidelines to designate resources (ie, standards, guidelines, tools, and platforms) designed to accelerate the pace of discoveries and translation into clinical applications for the rare disease (RD) research community. In its first year of implementation, 13 resources successfully applied for this designation, each focused on key areas essential to IRDiRC objectives and to the field of RD research more broadly. These included data sharing for discovery, knowledge organisation and ontologies, networking patient registries, and therapeutic development. 'IRDiRC Recognized Resources' is a mechanism aimed to provide community-approved contributions to RD research higher visibility, and encourage researchers to adopt recognised standards, guidelines, tools, and platforms that facilitate research advances guided by the principles of interoperability and sharing.

Assessing multilevel determinants of adoption and implementation of genomic medicine: an organizational mixed-methods approach.

PURPOSE: Adoption and implementation of evidence-based genetic and genomic medicine have been slow. We describe a methodology for identifying the influence of organizational factors on adoption and implementation of these services in health-care organizations. METHODS: We illustrate a three-component, mixed-methods health services research approach, including expert panels, qualitative interviews with key informants, and quantitative surveys completed by key informants. RESULTS: This research approach yielded a baseline assessment of existing genetic health-care models in the Veterans Health Administration and identified organizational barriers to and facilitators of adoption. In aggregate, the panel and key informant strategies created a communication network of relevant organizational stakeholders and a detailed foundation of organizational knowledge from which to design tools and models for implementation-level genetic/genomic translation. CONCLUSION: Expert panel and key informant strategies can be used to create a backdrop of stakeholder involvement and baseline organizational knowledge within which to plan translation research and to inform strategic planning and policies for adoption and implementation of genetic services in health-care organizations.

Nursing genomics: its role in health trajectory.

The human genome, which is the complete set of human genetic information, significantly contributes to the health of an individual; it can lead to single or complex medical conditions (including cancer and heart disease) also affected by environmental and behavioral risk factors. To date, the challenges related to human genomics and nursing science focus on the following areas: (1) curriculum application, (2) advanced clinical practice in specific fields, and (3) hands-on bioscience laboratory skills. This review article summarizes current efforts and addresses critical components in nursing genomics.

How advances in genomics are changing patient care.

The completion of the Human Genome Project has led to a greater understanding of the role of genetics/genomics in the development of all common diseases, which is leading to the routine integration of genetics and genomics into all aspects of health care. This change in practice presents new challenges for health care professionals. This article provides an overview of how genetics/genomics has the potential to improve health care within many different clinical scenarios, and highlights the key issues for nurses working in a variety of settings.

The impact of genomics on oncology nursing.

Since 2003, genetics and genomics information has led to exciting new diagnostics, prognostics, and treatment options in oncology practice. Profiling of cancers offers providers insight into treatment and prognostic factors. Germline testing provides an individual with information for surveillance or therapy that may help them prevent cancer in their lifetime and options for family members as yet untouched by malignancy. This offers a challenge for oncology nurses and other oncology health care providers to become comfortable with incorporating education about genetics/genomics into their clinical practice and patient education.

Nursing and genetic biobanks.

Biobanks function as vital components in genetic research, which often requires large disease-based or population-based biospecimens and clinical data to study complex or rare diseases. Genetic biobanks aim to provide resources for translational research focusing on rapidly moving scientific findings from the laboratory into health care practice. The nursing profession must evolve as genetic biobanking practices advance. Nursing involvement in genetic biobanking practices comes with a distinct set of educational, ethical, and practice competencies. In response to these growing competency standards, nursing science developed a conceptual framework and continues to study ethical considerations to guide genetic biobanking initiatives.

Access and benefits sharing of genetic resources and associated traditional knowledge in northern Canada: understanding the legal environment and creating effective research agreements.

BACKGROUND: Research in northern Canada focused on Aboriginal peoples has historically benefited academia with little consideration for the people being researched or their traditional knowledge (TK). Although this attitude is changing, the complexity of TK makes it difficult to develop mechanisms to preserve and protect it. Protecting TK becomes even more important when outside groups become interested in using TK or materials with associated TK. In the latter category are genetic resources, which may have commercial value and are the focus of this article. OBJECTIVE: This article addresses access to and use of genetic resources and associated TK in the context of the historical power-imbalances in research relationships in Canadian north. DESIGN: Review. RESULTS: Research involving genetic resources and TK is becoming increasingly relevant in northern Canada. The legal framework related to genetic resources and the cultural shift of universities towards commercial goals in research influence the environment for negotiating research agreements. Current guidelines for research agreements do not offer appropriate guidelines to achieve mutual benefit, reflect unequal bargaining power or take the relationship between parties into account. CONCLUSIONS: Relational contract theory may be a useful framework to address the social, cultural and legal hurdles inherent in creating research agreements.

How disease advocacy organizations participate in clinical research: a survey of genetic organizations.

PURPOSE: Disease advocacy organizations may assist in the conduct of research in a variety of ways. We sought to characterize how disease advocacy organizations participate in clinical research and perceive their contributions. METHODS: Postal and electronic surveys administered to leaders of disease advocacy organizations for genetic conditions identified through the Genetic Alliance's Disease InfoSearch. RESULTS: Of the 201 disease advocacy organizations approached, 124 (62%) responded. In the past 2 years, 91% of these organizations had assisted in participant recruitment, 75% collected data, 60% provided a researcher with financial support, and 56% assisted with study design. Forty-five percent of these organizations also supported a research registry or biobank. Few disease advocacy organization leaders (12%) reported regrets about research studies they had supported. Most (68%) felt their involvement in clinical research had increased the amount of research on their condition and that researchers should consult organizations like theirs in deciding how to recruit participants (58%) and in selecting research topics (56%). CONCLUSION: In addition to providing financial support, disease advocacy organizations participate directly in multiple aspects of research, ranging from study design and patient recruitment to data collection and analysis. Leaders of these organizations feel strongly that scientists and research sponsors should engage them as partners in the conduct of clinical research.