Genetic Health Care Research Articles

Pharmacogenetics in Oncology: A useful tool for individualizing drug therapy.

With the continuous development of genetics in healthcare, there has been a significant contribution to the development of precision medicine, which is ultimately aimed at improving the care of patients. Generally, drug treatments used in Oncology are characterized by a narrow therapeutic range and by their potential toxicity. Knowledge of pharmacogenomics and pharmacogenetics can be very useful in the area of Oncology, as they constitute additional tools that can help to individualize patients' treatment. This work includes a description of some genes that have been revealed to be useful in the field of Oncology, as they play a role in drug prescription and in the prediction of treatment response.

Unlocking the genetic tapestry of autoimmune diseases: Unveiling common genes across multiple conditions.

This study aimed to unravel the complexities of autoimmune diseases by conducting a comprehensive analysis of gene expression data across 10 conditions, including systemic lupus erythematosus (SLE), psoriasis, Sjögren's syndrome, sclerosis, immune-associated diseases, osteoarthritis, cystic fibrosis, inflammatory bowel disease (IBD), type 1 diabetes, and Guillain-Barré syndrome. Gene expression profiles were rigorously examined to identify both upregulated and downregulated genes specific to each autoimmune disease. The study employed visual representation techniques such as heatmaps, volcano plots, and contour-MA plots to provide an intuitive understanding of the complex gene expression patterns in these conditions. Distinct gene expression profiles for each autoimmune condition were uncovered, with psoriasis and osteoarthritis standing out due to a multitude of both upregulated and downregulated genes, indicating intricate molecular interplays in these disorders. Notably, common upregulated and downregulated genes were identified across various autoimmune conditions, with genes like SELENBP1, MMP9, BNC1, and COL1A1 emerging as pivotal players. This research contributes valuable insights into the molecular signatures of autoimmune diseases, highlighting the unique gene expression patterns characterizing each condition. The identification of common genes shared among different autoimmune conditions, and their potential role in mitigating the risk of rare diseases in patients with more prevalent conditions, underscores the growing significance of genetics in healthcare and the promising future of personalized medicine.

Effective patient-provider communication in healthcare genetics: a concept analysis

Effective patient-provider communication in healthcare genetics: a concept analysis

Genomics education for advance practice nurses: Staying cutting edge.

As we celebrate the 20th anniversary of sequencing of the human genome and the rapid integration of genetics in health care, we pause to reflect on the status of genomic competency in nursing. The literature provides evidence that nurses do not feel prepared or confident in genomics. Genomic education for nurses and other health care professionals can support access and equity in the integration of genomics into practice. Resources are provided to support genomic education and clinical support.

Service provision of genetics health care in Portugal.

In recent decades, genetics has undergone important technological advances. The rapid shift to genomics has made a strong impact on health systems around the world. In Portugal, this huge increase in consultations and typologies of genetic tests has joined the serious limitations of the few existing genetics services. The following study aims to characterize the current state of the network of genetics services in Portugal regarding its functioning, main challenges, and opportunities.Five semi-structured interviews were conducted, corresponding to 83.33% of the directors of the public genetics services of the National Health Service.Four thematic categories emerged from the analysis: (1) specialty and technical developments, (2) structural difficulties, (3) potentialities, and (4) future directions. The developments are due to the emergence of more comprehensive geneticapplications, specific protocols and patient referral standards, and accreditation of services. The main difficulties encountered in the functioning of the services were difficulty in obtaining funding, lack of human resources, service overload, and lack of exclusive time for training and research. The potentialities mentioned were the establishment of multidisciplinary teams and the best articulation with specialists from other areas. Among the various future directions pointed out, better management of patients' waiting lists, the importance of research, the simplification of test request procedures, and the creation of specialized units inside the genetic services,were reported.The results showed several gaps in the practice of medical genetics that should be addressed with the development of public policies for the recognition and restructuring of medical genetics in health care.

DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)

DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)

Please Wait for the Host to Start This Meeting: A Push for H.R. 3235 Amid COVID-19.

Please Wait for the Host to Start This Meeting: A Push for H.R. 3235 Amid COVID-19.

Genetics in the Danish nursing education: A questionnaire study

Objective: It is well established that genetics plays an increasing role in healthcare. This has given rise to an ongoing discussion about the genetics competencies that healthcare personnel should possess. Nurses are key players in healthcare, and several studies have found that current genetics teaching in nursing education is insufficient. Other studies have shown that many nurses have a very limited knowledge of genetics. The objective of the present study was to gain insight into the genetics content in the Danish nursing education.Methods: We conducted a questionnaire study, involving one science lecturer from each of the 26 Danish nursing schools, asking informants about the status of genetics at their nursing school, e.g. curriculum, number of teaching lessons and exam.Results: With a response rate of 100%, we found a large variation between schools regarding the number of genetics lessons offered, ranging from two to eleven lessons. There was also a large variation with regard to curriculum. Most schools used one of two textbooks written in Danish, and classical genetics subjects such as DNA structure, protein synthesis, single gene diseases, pedigrees, and chromosome abnormalities were part of the literature curriculum in almost all schools, with variation in the level of detail. Genetics subjects of specific relevance to nursing and healthcare, such as pharmacogenetics and cancer genetics, were only part of the literature curriculum in some schools. Genetics was only a minor exam subject (if at all), and inclusion of ethical and social aspects of genetics in healthcare varied considerably.Conclusions: This study gives a unique insight into the situation regarding genetics in the Danish nursing education, and we argue that national recommendations regarding genetics teaching in nursing education are of importance in order to harness the full potential of genetics in healthcare.

Parental Knowledge and Misconceptions of Risks to Healthy Newborns in Genotypic Driven Pediatric Research

Purpose: To describe parental knowledge and misconceptions of genetics. Study design and methods: A qualitative, descriptive study utilizing semi-structured interviews (n=32) was conducted in private rooms with mothers or mother-father dyads 24-48 hours after the birth of their healthy, full-term infant. Audio recording and field notes were collected. Thematic analysis identified major categories pertaining to parental knowledge of genetics in healthcare. Results: Two themes were identified: parental lack of knowledge and misconceptions of genetics in healthcare and parent’s perception of the value of the genetics in healthcare. Parental source of genetic information emerged as an accounting of where parents obtained genetic information. Thirty-eight percent of parents felt they had little knowledge of genetics. Twenty percent of parents acquired their genetic information from personal experience. Seventeen percent of parents acquired their genetic information from public media, and 10% of parents acquired their genetic information from someone who experienced genetic testing. Parents perceived value in prenatal diagnosis of variable conditions or disease but had mixed opinions on the value of genetics in healthcare after the child was born. Clinical implications: Significant gaps and misunderstandings in parental knowledge of genetics were identified. Removing potential parental knowledge barriers is essential for parental understanding of the role of genetics in health, illness, and pediatric genetic research.

Developing a framework for implementation of genetic services: learning from examples of testing for monogenic forms of common diseases.

Genetics in health care is shifting, and responsibilities of genetic and nongenetic specialists are changing, requiring new guidance on how to adapt health care to advances in genetic services. This paper explores facilitators and barriers in the process of implementation of innovations in genetic health care. Furthermore, lessons learnt for optimizing development of new genetic services are summarized. Barriers and facilitators in transition processes were identified using mixed methods, including an online open-ended questionnaire among professionals and an international expert meeting. A multi-case study approach was used to explore recent experiences with innovations in genetic services in different phases of implementation. Barriers encountered in transitions in genetic service provision include the following: lack of genetic knowledge and skills among nongenetic health care providers, resistance to new divisions of responsibilities, and a need for more close collaboration and communication between geneticists and nongeneticists. Facilitating factors include the following: statutory registration of genetic specialists, availability of essential staff and equipment, and existence of registries and guidelines. Other challenges are experienced in the establishment of the appropriate legal and financial structures. A set of points to consider for genetic innovation processes is proposed, addressing, e.g., transition management and cooperation and communication strategies.

Identifying the characteristics of nurse opinion leaders to aid the integration of genetics in nursing practice.

To identify the characteristics of nurses opinion leaders in the context of genetics in health care and consider the findings for the integration of genetics in nursing practice. Nurses need a basic understanding of the role genetics plays in their practice and about how best to support patients using genetic knowledge. Opinion leaders have been used previously to incorporate change initiatives and increase educational application. Identifying the characteristics of nurse opinion leaders may aid the engagement and continued integration of genetics into nursing practice. A primarily quantitative approach over two phases, using online surveys conducted during 2011. This article focuses on Phase 2 of a wider study. Oncology and primary care nurses were surveyed to identify the characteristics and demographic indicators of nurse opinion leaders. Tests for data normality followed by the suitable test for group comparison was applied with significance level set at <0·05. Nineteen respondents (n = 19/88; 21·6%) were categorized as opinion leaders and two subgroups were identified: Genetic Opinion Leaders and Opinion Leaders with an Interest in Genetics. Seven characteristics were deemed statistically significant (Mann-Whitney, Chi-Square, t-test) in identifying nurse opinion leaders, including being open to experience and having a perceived level of influence over others. The identified characteristics could be used to enhance the integration of genetics into nursing practice through the use of opinion leaders. Further thought needs to be given to the refinement of the identified characteristics and to the use of such a unique group of nurses.

Counseling customers: emerging roles for genetic counselors in the direct-to-consumer genetic testing market.

Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre- and post-test genetic counseling to be included with the product. Several genetic testing companies offer genetic counseling. There has been no examination to date of this service provision, whether it meets critics’ concerns and implications it may have for the genetic counseling profession. Considering the increasing relevance of genetics in healthcare, the complexity of genetic information provided by DTC GT, the mediating role of the internet in counseling, and potential conflicts of interest, this is a topic which deserves further attention. In this paper we offer a discourse analysis of ways in which genetic counseling is represented on DTC GT websites, blogs and other online material. This analysis identified four types of genetic counseling represented on the websites: the integrated counseling product; discretionary counseling; independent counseling; and product advice. Genetic counselors are represented as having the following roles: genetics educator; mediator; lifestyle advisor; risk interpreter; and entrepreneur. We conclude that genetic counseling as represented on DTC GT websites demonstrates shifting professional roles and forms of expertise in genetic counseling. Genetic counselors are also playing an important part in how the genetic testing market is taking shape. Our analysis offers important and timely insights into recent developments in the genetic counseling profession, which have relevance for practitioners, researchers and policy makers concerned with the evolving field of personal genomics.

Multilevel Intervention Research Applications in Cancer Care Delivery

Multilevel Intervention Research Applications in Cancer Care Delivery

Genetic testing and services in Argentina

Argentina is a middle-income country with a population of 40 million people. The structure of morbidity and mortality approaches that of more developed nations, with congenital and genetic disorders contributing significantly to ill health. The health delivery system is mixed, with public, social security, and private sectors which together spend close to 10% of the GNP. Health subsectors are decentralized at provincial and municipality levels, where health planning and financing occurs, leading to fragmentation, inefficiency, and inequities. There are about 41 clinical genetic units in major medical centers in large cities, staffed by about 120 clinical geneticists, although only a few units are fully comprehensive genetic centers. Duplications, deficiencies, and poor regionalization and coordination affect health care delivery in general and in genetics. Funding for genetic services is limited due to poor understanding and lack of political will on the part of health authorities. Recently, however, there have been some interesting initiatives by national and provincial ministries of health to improve genetic services delivery by increasing coordination and regionalization. At the same time, training in genetics of health professionals is occurring, particularly in primary health care, and registries of congenital defects are being put in place. These developments are occurring in conjunction with a new awareness by health authorities of the importance of genetics in health care and research, a heightened activism of patient organizations demanding services for neglected conditions, as well as of women movements for the right to safe abortion.

The paradox of public health genomics: Definition and diagnosis of familial hypercholesterolaemia in three European countries

Considerable progress in public health is expected to occur from the application of genomic knowledge and technologies. This is the subject of a newly emerging field of public health genomics. In this paper we analyze differences in how public health genomics is developing in the Netherlands, the UK and Germany through the definition and diagnosis of familial hypercholesterolaemia (FH), an inherited predisposition for coronary heart disease. We analyzed the emergence of public health genomics within the framework of a project on the incorporation of genetics in western European healthcare schemes. Our analysis is based on document analysis and in-depth interviews. In the Netherlands, public health genomics takes shape through a genetic screening programme for FH, looking for mutations on two specific genes; in the UK it emerges through a strategy of ''mainstreaming'' genetics in health care that aims to identify hereditary predispositions by means of phenotypic diagnosis; and in Germany public health genomics is elaborated at a conceptual level, leaving a diagnosis of FH to individual physicians who occasionally prescribe genetic testing. Our analysis shows how public health genomics gets constituted differently in different countries and, moreover, produces particular patterns of inclusion and exclusion from care. These patterns indicate a paradox in public health genomics, which consists of an inverse relationship between the use of advanced molecular genetic testing technologies and the number and variety of individuals at risk included in the target population. This paradox presents a challenge for professionals and policy makers in public health genomics.

The Genogram: Enhancing Student Appreciation of Family Genetics

This study used the health histories of nursing students' families to facilitate students' understanding of the role genetics plays in reproductive health. An ethnographic genetic interview and data collection assignment were created and implemented. Participants included 107 nursing students enrolled in reproductive health nursing who collected ethnographic genetic information by interviewing their own families. The results showed that this exercise helps students gain insight, not only into their own family history but also into the importance of inherited causes of illness and disease. The genogram assignment provides a creative experience in integrating theoretical concepts and augments students' understanding of genetics in health care.

Nowgen, A Center for Genetics in Healthcare.

It is now widely agreed that genetics is set to play a major role in healthcare; 'personalized' medicine, new approaches for treating cancer, and stem cell therapies are typical of the exciting areas of development, whilst large-scale epidemiological studies are uncovering genetic factors in pathways involved in complex disease. Nowgen, A Center for Genetics in Healthcare is a publicly funded organization examining the wider impact of genetics and genomics on the delivery of 21st century medicine. We recognize that the adoption of new technologies and treatments will be shaped by many factors, including public and patient beliefs and attitudes, the knowledge of professionals, and wider business approaches to these innovations. Our role is also to consider these developments within the UK National Health Service. We place ourselves at the center of the current discourse between these groups, setting out to perform applied research, inform and canvass opinion, disseminate knowledge, monitor developments and inform policy relating to the future of genetic medicine.

Applied genetics in health care. A handbook for specialist practitioners. Heather Skirton, Christine Patch, Janet Williams, editors. New York: Taylor and Francis Group, 2005. 274 p.

Applied genetics in health care. A handbook for specialist practitioners. Heather Skirton, Christine Patch, Janet Williams, editors. New York: Taylor and Francis Group, 2005. 274 p.

Is the UK public ready for genetic medicine?

While discussion about the potential for personalized medicine persists, in the UK embedding pharmacogenetics in mainstream clinical practice will also depend on high levels of confidence and trust of citizens in the motives of stakeholders. The role of Government, regulators and the guidance offered by health practitioners will contribute to its acceptance or otherwise. Nowgen, a center for genetics in healthcare, is dedicated to exploring how health service research, practice and innovation, in relation to genetic medicine, are informed and perceived by the public. In 2006, Nowgen commissioned a national polling organization, ICM, to carry out a representative survey of UK public attitudes to key questions related to genetic medicine, in order to help inform its future activity. The survey indicated that the UK public is relatively well informed about the contribution made by genes to common and complex disease and that it is fairly optimistic about the role of genetics in the treatment of a range of medical conditions. A significant proportion of the population seem reticent to subscribe to genetic testing in order to personalize drug prescription, although the rationale for resistance is, as yet, unclear.

Towards an Economic Evidence Base for Pharmacogenetics: Consideration of Outcomes is Key

Katherine Payne1,2 1The University of Manchester, Health Economics Research at Manchester (HERMAN), Health Methodology Research Group, School of Community Based Medicine, University Place, Oxford Road, Manchester, M13 9PL, UK 2The Nowgen Centre, Nowgen – A Centre for Genetics in Healthcare, 29 Grafton Street, Manchester, M13 9WU, UK Tel.: +44 161 276 8979; Fax: +44 161 276 4058; E-mail: katherine.payne@ manchester.ac.uk ‘In the absence of a robust alternative, QALYs are currently widely used by UK decision-makers trying to make difficult decisions about how best to use healthcare resources for maximum patient benefit.’