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.

Regional models of genetic services in the United States.

PURPOSE: To outline structures for regional genetic services support centers that improve access to clinical genetic services. METHODS: A workgroup (WG) and advisory committee (AC) (1) conducted a comprehensive review of existing models for delivering health care through a regional infrastructure, especially for genetic conditions; (2) analyzed data from a needs assessment conducted by the National Coordinating Center (NCC) to determine important components of a regional genetic services support center; and (3) prioritized components of a regional genetic services support system. RESULTS: Analysis of identified priorities and existing regional systems led to development of eight models for regional genetic services support centers. A hybrid model was recommended that included an active role for patients and families, national data development and collection, promotion of efficient and quality genetic clinical practices, healthcare professional support for nongeneticists, and technical assistance to healthcare professionals. CONCLUSION: Given the challenges in improving access to genetic services, especially for underserved populations, regional models for genetic services support centers offer an opportunity to improve access to genetic services to local populations. Although a regional model can facilitate access, some systemic issues exist-e.g., distribution of a workforce trained in genetics-that regional genetic services support centers cannot resolve.

The changing face of clinical genetics service delivery in the era of genomics: a framework for monitoring service delivery and data from a comprehensive metropolitan general genetics service.

PURPOSE: Clinical genetics is an evolving specialty impacted by the availability of increasingly sophisticated investigational technologies. Methods for monitoring the changes in workload and workflow are necessary to ensure adequate service resourcing. METHODS: A literature search of known workload and workflow studies was completed, identifying metrics of value. A framework of metrics to allow consistent capture in clinical genetics practice was developed. This framework was then applied to local general genetics service data to evaluate recent changes in service delivery. RESULTS: Literature regarding service delivery metrics in clinical genetics services is limited and inconsistent in application. The metric framework generated is a useful tool for consistent and ongoing evaluation of general genetics services. Through application of the framework, new service delivery trends and significant changes in workload were identified. CONCLUSION: Studies of clinical genetics service delivery suffer from the use of inconsistent metrics. This framework will allow for monitoring of changes to service delivery, caseload volume, caseload complexity, and workforce over time. Local data presented demonstrate the significant effect that implementing clinical genomic sequencing has had on clinical service delivery. Applying this framework produces a comprehensive service characterization, enabling funding bodies to justify resourcing that addresses the growing demand of clinical genetics.

Genomic education for the next generation of health-care providers.

Historically, medical geneticists and genetic counselors have provided the majority of genetic services. Advances in technology, reduction in testing costs, and increased public awareness have led to a growing demand for genetic services in both clinical and direct-to-consumer spaces. Recent and anticipated changes in the workforce of genetic counselors and medical geneticists require a reexamination of the way we educate health-care providers and the means by which we provide access to genetic services. The time is ripe for rapid growth of genetic and genomic services, but to capitalize on these opportunities, we need to consider a variety of educational mechanisms to reach providers both within and beyond the traditional genetic counseling and medical genetics sectors, including nurses, physician assistants, and nongenetics physicians. This article summarizes the educational efforts underway in each of these professions.

Defining and Achieving Health Equity in Genomic Medicine.

The potential of genomics to improve health comes with the peril that the benefits will not be equitably available to all populations. Existing health disparities can be exacerbated if the implementation of genomic medicine does not intentionally focus on health equity. Defining what health equity means in the context of genomics and outlining how it can be achieved is important for the future of the field. Strategies to improve health equity include addressing underrepresentation of diverse populations in genomic research, investigating how genomic services can be deployed in diverse health care settings and underserved communities, increasing workforce diversity, supporting infrastructure development outside traditional research centers, and engaging communities and health care providers. By employing these strategies, the genomic research community can advance health equity in genomic medicine.

Challenges and opportunities for effective delivery of clinical genetic services in the U.S. healthcare system.

PURPOSE OF REVIEW: Demand for clinical genetics and genomics services is increasing. As discussed in this study, the clinical genetics and genomics workforce is small. How to meet the demand with a limited workforce requires innovation. RECENT FINDINGS: Background data regarding the current state of clinical genetic services including volume of services and make-up of the clinical genetics workforce are presented. The study then identifies opportunities to increase access to clinical genetic service providers using new models of service and discusses examples of solutions which have been implemented in some practice settings. Creative uses of technology to increase providers' efficiency are highlighted. SUMMARY: Clinical genetics service providers need to rise to the occasion and lead the transformation of clinical genetic service delivery. Many of the examples of solutions described in the study can be implemented by other providers now. Additionally, the described solutions may serve to inspire genetic providers to create their own new solutions, which should then be shared with the provider community.

Medical genetics in developing countries in the Asia-Pacific region: challenges and opportunities.

Advances in genetic and genomic technology changed health-care services rapidly in low and middle income countries (LMICs) in the Asia-Pacific region. While genetic services were initially focused on population-based disease prevention strategies, they have evolved into clinic-based and therapeutics-oriented service. Many LMICs struggled with these noncommunicable diseases and were unprepared for the needs of a clinical genetic service. The emergence of a middle class population, the lack of regulatory oversight, and weak capacity-building in medical genetics expertise and genetic counseling services led to a range of genetic services of variable quality with minimal ethical oversight. Some of the current shortcomings faced include the lack of awareness of cultural values in genetic health care, the variable stages of socioeconomic development and educational background that led to increased demand and abuse of genetics, the role of women in society and the crisis of gender selection, the lack of preventive and care services for genetic and birth defects, the issues of gene ethics in medicine, and the lack of understanding of some religious controversies. These challenges provide opportunities for both developing and developed nations to work together to reduce the inequalities and to ensure a caring, inclusive, ethical, and cost-effective genetic service in the region.

Genetic Test Availability And Spending: Where Are We Now? Where Are We Going?

Genetic testing and spending on that testing have grown rapidly since the mapping of the human genome in 2003. However, it is not widely known how many tests there are, how they are used, and how they are paid for. Little evidence from large data sets about their use has emerged. We shed light on the issue of genetic testing by providing an overview of the testing landscape. We examined test availability and spending for the full spectrum of genetic tests, using unique data sources on test availability and commercial payer spending for privately insured populations, focusing particularly on tests measuring multiple genes in the period 2014-17. We found that there were approximately 75,000 genetic tests on the market, with about ten new tests entering the market daily. Prenatal tests accounted for the highest percentage of spending on genetic tests, and spending on hereditary cancer tests accounted for the second-highest. Our results provide insights for those interested in assessing genetic testing markets, test usage, and health policy implications, including current debates over the most appropriate regulatory and payer coverage mechanisms.

Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe.

Advances in genomic medicine are improving diagnosis and treatment of some health conditions, and the question of whether former patients should be recontacted is therefore timely. The issue of recontacting is becoming more important with increased integration of genomics in 'mainstream' medicine. Empirical evidence is needed to advance the discussion over whether and how recontacting should be implemented. We administered a web-based survey to genetic services in European countries to collect information about existing infrastructures and practices relevant to recontacting patients. The majority of the centres stated they had recontacted patients to update them about new significant information; however, there were no standardised practices or systems in place. There was also a multiplicity of understandings of the term 'recontacting', which respondents conflated with routine follow-up programmes, or even with post-test counselling. Participants thought that recontacting systems should be implemented to provide the best service to the patients and families. Nevertheless, many barriers to implementation were mentioned. These included: lack of resources and infrastructure, concerns about potential negative psychological consequences of recontacting, unclear operational definitions of recontacting, policies that prevent healthcare professionals from recontacting, and difficulties in locating patients after their last contact. These barriers are also intensified by the highly variable development (and establishment) of the specialties of medical genetics and genetic counselling across different European countries. Future recommendations about recontacting need to consider these barriers. It is also important to reach an 'operational definition' that can be useful in different countries.

Perfeccionamiento de los servicios genéticos a gestantes y recién nacidos mediante la Red Informatizada de Salud SALGEN / Improvement genetics services to pregnant women and newborn by health informatic network SALGEN

La red informatizada de salud SALGEN se utiliza desde el 2009 en la atención genética a la gestante y el recién nacido en la provincia de Sancti Spíritus, insertada en las facilidades de conexión en tiempo real entre todas las instituciones de salud que brinda INFOMED. Se han atendido 34 452 gestantes hasta septiembre 2015, realizando evaluación de riesgo genético, pesquisa de anemia de hematíes falciformes, dosificación de alfafetoproteína, diagnóstico prenatal citogenético, ultrasonido de cada trimestre, características del parto y del recién nacido, pesquisas metabólicas neonatales y evaluación genético clínica del lactante. El software brinda160 reportes que han permitido evaluar la calidad de todos los procederes del programa de la atención genética a gestantes y recién nacidos y otras acciones organizativas del programa de atención materno infantil además de indicadores evaluativos para ecografía prenatal de acuerdo a estándares internacionales que son visualizados online por los especialistas como forma de autoevaluación. Los resultados validan al sistema informático para su utilización a nivel de cualquier policlínico, municipio o provincia del país. Este trabajo tiene por objetivo evidenciar la utilidad de SALGEN en el perfeccionamiento de la atención genética a gestantes y recién nacidos y en el control de calidad de acciones del Programa de Atención Materno Infantil (PAMI)(AU)

The Sancti Spíritus Provincial Medical Genetics Network has been using the Salgen informatics platform since 2009 for health care, administrative and research activities oconcerning pregnant mothers and newborns. The network uses the national Infomed backbone to provide real-time connection between community-based polyclinics in primary health care and the Provincial Medical Genetics Reference Center. Until September 2015 the platform has recorded 34 452 pregnant women and sequential clinical data on genetic risk assessment in early pregnancy, prenatal ultrasound, sickle cell anemia screening, alpha-fetoprotein levels, cytogenetic antenatal diagnosis, delivery and newborn characteristics, neonatal metabolic screening, and infant clinical assessment. The system makes health care results immediately available and provides 160 health alerts to enable timely preventive care for pregnant women. It also provides guidelines for processes and practices, and streamlines administrative and monitoring activities through statistical reports. The database generates indicators for assessing fetal growth and applies international standards for antenatal ultrasound quality control. Salgen can be use in any institution of primary health services, municipality or provinces of Cuba(AU)

Evolution of Hereditary Breast Cancer Genetic Services: Are Changes Reflected in the Knowledge and Clinical Practices of Florida Providers?

AIMS: We describe practitioner knowledge and practices related to hereditary breast and ovarian cancer (HBOC) in an evolving landscape of genetic testing. METHODS: A survey was mailed in late 2013 to Florida providers who order HBOC testing. Descriptive statistics were conducted to characterize participants' responses. RESULTS: Of 101 respondents, 66% indicated either no genetics education or education through a commercial laboratory. Although 79% of respondents were aware of the Supreme Court ruling resulting in the loss of Myriad Genetics' BRCA gene patent, only 19% had ordered testing from a different laboratory. With regard to pretest counseling, 78% of respondents indicated they usually discuss 11 of 14 nationally recommended elements for informed consent. Pretest discussion times varied from 3 to 120 min, with approximately half spending <20 min. Elements not routinely covered by >40% of respondents included (1) possibility of a variant of uncertain significance (VUS) and (2) issues related to life/disability insurance. With regard to genetic testing for HBOC, 88% would test an unaffected sister of a breast cancer patient identified with a BRCA VUS. CONCLUSIONS: Results highlight the need to identify whether variability in hereditary cancer service delivery impacts patient outcomes. Findings also reveal opportunities to facilitate ongoing outreach and education.

[Personalized medicine: expectations, disappointments and hopes].

Impressive advances in the studies of human genome, identification of mutant genes of hereditary diseases and candidate genes of many chronic multifactorial diseases (MFD) laid the foundation of molecular medicine. Its characteristic features, such as the focus on individual prophylactic care, give reason to consider it as personalized predictive medicine (PPM). The fundamental concept behind PPM comprises the notion of genetic passport and its methodological basis is genetic testing (GT). Recent progress in PPM has been achieved due to the introduction of comprehensive genomic screening of associations. At the same time, the contribution of known individual genes to the development of MFD appears to be relatively insignificant which does not allow to identify the main causes of MFD. It gave rise to some scepsis as regards the value of genome as a source of information for practical medicine. Possibilities for the improvement of GT and conditions for the introduction of the available data into clinical practice are discussed. The necessity to attract clinicians to the work on PPM is emphasized. The development of unified MFD gene panels for clinical application and software for the evaluation and interpretation of GT results for doctors and patients is an indispensable condition for the use of PPM knowledge in the healthcare practice. The importance of solution of relevant ethical, juridical, and social issues is underscored.

Quality genetic services for the population, now and in the future.

The possibilities for testing and screening for genes involved in inherited diseases or susceptibility to diseases have increased spectacularly. Combined with a revolution in the availability of sophisticated new technologies for testing, the question arises how will we be able to continue to provide quality services to our customers ? Who will provide these ? Will it be the centres, as we know them today, or will DTC take gradually over this service ? Will the quality criteria, as established today before tests are made available, still be applicable and how will these new services be able to contribute to an increasing and coordinated collection of global information on genetic diversity and on the pathogenic changes in the human genome? As stated in the Bioethics Convention of the European Council and explicited in the recent recommendations from the House of Lords of the UK on Genomic Medicine, we will need a major effort of the European Commission/of our governments, to implement a series of measures which will allow the correct and quality assured introduction into practice of the genetic knowledge that is being generated. Only then will all individuals and the scientific community be able to benefit from our services.

The on-line promotion and sale of nutrigenomic services.

PURPOSE: Nutrigenomic researchers hope to improve health through personalized nutrition, but many consider the sale of nutrigenomic services to be premature. Few studies have evaluated the promotion and sales practices of organizations hosting nutrigenomic websites. METHODS: Systematic search and analysis of websites promoting nutrigenomic services in October 2006. RESULTS: Of the 64 organizations hosting websites, 29 organizations offered (24 of 29) or promoted (5 of 29) at-home testing and 26 organizations sold services on-line (17 of 26) or provided a direct link to on-line sales (9 of 26). A lack of transparency made it difficult to identify unique tests; however, three organizations were linked to 56% of all test mentions. Most organizations were healthcare/wellness service providers (50%) or laboratories/biotech companies (27%). Few organizations provided on-line information about laboratory certifications (20%), nutrigenomic test or research limitations (13%), test validity or utility (11%), or genetic counseling (9%). Affiliation opportunities were offered by 15 organizations. CONCLUSIONS: Organizations did not provide adequate information about nutrigenomic services and at-home genetic testing. Affiliation opportunities and distribution agreements suggest the promotion and sale of nutrigenomic services will continue, increasing the importance of consumer and provider education. In absence of federal regulation, organizations promoting nutrigenomic services should equate websites to product labels and include information to facilitate informed decision-making.

Issues in genetic testing for ultra-rare diseases: background and introduction.

Since 1994, at least three national advisory committees have addressed issues involving access to high-quality genetic testing for ultra-rare genetic diseases. These included the Institute of Medicine (1994), a National Institutes of Health-Department of Energy Task Force on Genetic Testing (1997), and the Secretary's Advisory Committee on Genetic Testing (2000). All identified the limited availability of high-quality testing for these rare diseases as a very high priority and a number of recommendations to improve access were made. However, little systematic progress was made as a direct result of these committee recommendations. Beginning in 2004, a series of national workshops on "Quality Laboratory Testing for Rare Diseases" was organized by a group of clinical laboratory directors experienced in rare disease testing working with the Centers for Disease Control and the Office of Rare Diseases at National Institutes of Health. These meetings included broad-based community involvement, with stakeholders from appropriate federal agencies, professional societies, patient advocacy groups as well as clinical geneticists and clinical genetics laboratory experts. Two successful outcomes of these workshops were the formation of a National Laboratory Network for Rare Disease Testing and a National Institutes of Health-funded program to aid in the translation of new genetic tests from research laboratories to Clinical Laboratory Improvement Amendments-certified diagnostic laboratories known as the Collaboration and Education in Test Translation program. This article briefly reviews the history and current status of genetic testing for ultra-rare genetic diseases in the United States, with a primary focus on molecular genetic testing by DNA sequencing. Other articles in this series provide more detailed reports on the significant progress in improving access to quality genetic testing for rare diseases within the last few years.

Delivery of genomic medicine for common chronic adult diseases: a systematic review.

CONTEXT: The greatest public health benefit of advances in understanding the human genome may be realized for common chronic diseases such as cardiovascular disease, diabetes mellitus, and cancer. Attempts to integrate such knowledge into clinical practice are still in the early stages, and as a result, many questions surround the current state of this translation. OBJECTIVE: To synthesize current information on genetic health services for common adult-onset conditions by examining studies that have addressed the outcomes, consumer information needs, delivery, and challenges in integrating these services. DATA SOURCES: MEDLINE articles published between January 2000 and February 2008. STUDY SELECTION: Original research articles and systematic reviews dealing with common chronic adult-onset conditions were reviewed. A total of 3371 citations were reviewed, 170 articles retrieved, and 68 articles included in the analysis. DATA EXTRACTION: Data were independently extracted by one reviewer and checked by another with disagreement resolved by consensus. Variables assessed included study design and 4 key areas: outcomes of genomic medicine, consumer information needs, delivery of genomic medicine, and challenges and barriers to integration of genomic medicine. DATA SYNTHESIS: Sixty-eight articles contributed data to the synthesis: 5 systematic reviews, 8 experimental studies, 35 surveys, 7 pre/post studies, 3 observational studies, and 10 qualitative reports. Three systematic reviews, 4 experimental studies, and 9 additional studies reported on outcomes of genetic services. Generally there were modest positive effects on psychological outcomes such as worry and anxiety, behavioral outcomes have shown mixed results, and clinical outcomes were less well studied. One systematic review, 1 randomized controlled trial, and 14 other studies assessed consumer information needs and found in general that genetics knowledge was reported to be low but that attitudes were generally positive. Three randomized controlled trials and 13 other studies assessed how genomic medicine is delivered and newer models of delivery. One systematic review and 19 other studies assessed barriers; the most consistent finding was the self-assessed inadequacy of the primary care workforce to deliver genetic services. Additional identified barriers included lack of oversight of genetic testing and concerns about privacy and discrimination. CONCLUSION: Many gaps in knowledge about organization, clinician, and patient needs must be filled to translate basic and clinical science advances in genomics of common chronic diseases into practice.

Integrating bioinformatics into clinical practice: progress and evaluation. Findings from the section on bioinformatics.

OBJECTIVES: To summarize current excellent research in the field of bioinformatics. METHOD: Synopsis of the articles selected for the IMIA Yearbook 2007. RESULTS: Current research in the field of bioinformatics is characterized by careful evaluation of methods and by improved integration of methods into clinical workflows. Ongoing research on genetic causes of diseases is performed on more and better sources of reference data (genome sets and respective annotations), but is still hampered by insufficient, lacking or biased patient data. The application area of bioinformatics has been broadened, leading to amendment or even replacement of traditional methods in fields like characterization of microorganisms. Researchers carry out thorough statistical analyses in order to ensure quality and methodological correctness of new methods based on bioinformatic approaches which are more and more competitive compared to well-established techniques. CONCLUSIONS: The best paper selection of articles on bioinformatics shows examples of excellent research on methods concerning original development as well as quality assurance of previously reported studies. The crucial role of reliable and comprehensive data sources is affirmed, while technical development draws attention to the increasing problem of comparability of data derived some years ago with weaker equipment and those that are of up-to-date quality.