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At least 19 recordsLinked to original sources
PubMed2006

Data integration and genomic medicine.

Genomic medicine aims to revolutionize health care by applying our growing understanding of the molecular basis of disease. Research in this arena is data intensive, which means data sets are large and highly heterogeneous. To create knowledge from data, researchers must integrate these large and diverse data sets. This presents daunting informatic challenges such as representation of data that is suitable for computational inference (knowledge representation), and linking heterogeneous data sets (data integration). Fortunately, many of these challenges can be classified as data integration problems, and technologies exist in the area of data integration that may be applied to these challenges. In this paper, we discuss the opportunities of genomic medicine as well as identify the informatics challenges in this domain. We also review concepts and methodologies in the field of data integration. These data integration concepts and methodologies are then aligned with informatics challenges in genomic medicine and presented as potential solutions. We conclude this paper with challenges still not addressed in genomic medicine and gaps that remain in data integration research to facilitate genomic medicine.

Biomedical Research↗
PubMed2004

Diet and cancer prevention: evidence-based medicine to genomic medicine.

The practice of medicine, including health promotion and disease prevention, is on the verge of being revolutionized once again as the scientific and medical community transitions from evidence-based medicine to genomic medicine. Evidence-based medicine entails the systematic approach of formulating a question, developing literature search strategies, and evaluating and applying evidence to establish clinical practice guidelines. In 1982, when the National Research Council published the first comprehensive review of diet and cancer, the literature was primarily based on epidemiological studies, comparing dietary patterns between countries of low and high incidence for particular cancers. The American Institute for Cancer Research conducted an evidence-based review of the world literature and issued its first report in 1997, and the National Cancer Institute followed with evidence-based overviews of cancer prevention. The World Health Organization International Agency for Research on Cancer recently published a series of handbooks on cancer prevention in relation to dietary factors. The expert recommendations stemming from this extensive evidence subsequently influenced the clinical practice of medicine. In 2001, the complete sequencing of the human genome signified the beginning of the postgenomic era, in which new approaches and technologies are causing a shift in biomedical research. A widening understanding of the complex interactions among genotype, diet, lifestyle, and environment has evoked a change in clinical medical practice, where the evidence- and population-based protocol is evolving into a more personalized system that includes the analysis of individual genotype and phenotype. The implications of this evolution are considerable, because genomic medicine has the potential to give rise to personalized nutrition recommendations and specialized medical treatment.

Alcohol Drinking↗
PubMedDate not supplied

[Genomic medicine. Myths and reality].

Genomic medicine is simply the routine use of genomic analysis, preferably by direct DNA studies, to improve the quality of medical care. A likely consequence will be to increase the predictive and prevention capacities of medicine, including common diseases, such as cancer, diabetes and others. The most common variability of the genome are the SNPs (single nucleotide polymorphisms), every person having between 3 and 10 million of them. SNPs may or not be harmless, and studies are in progress in cases and controls studies to answer the question of whether they determine why some persons have a given disease and others do not, and if they have something to do with that the individual variation in the response to drugs. We discuss in the same context the haplotype map project (HapMap) as a tool to facilitate the study of possible associations of genome changes and common diseases. We discuss the most successful effort in gene therapy, that of severe combined immunodeficiency, in which 17 out of 18 patients responded well to the procedure, although 2 of them developed late side effects in the form of acute leukemia, very likely related to the therapy. The ethical social and legal problems of genomic medicine are discussed very lightly and several references are given to readers interested in this matter.

Genetic Therapy↗
PubMedDate not supplied

Applications of genomic medicine in endocrinology and post-genomic endocrine research.

In the mid 1980's, two advances revolutionized Medicine in a way that is comparable only to some of the most important events in the approximately 3,000 years of its history. The first was the introduction of the concept of "positional cloning", i.e. the idea that one can identify genes for human disease though knowing nothing or very little about their function. The second was the discovery of the method of polymerase chain reaction (PCR) which made DNA easier to work with for all biomedical researchers and clinicians. Fresh in the history of Endocrinology were the great discoveries of neuroendocrinology, and even more contemporary and potent, the influence of the then emerging field of molecular endocrinology. Cancer medicine and traditional human genetics were the fields that benefited most from the first applications of the new genomic concepts and technologies. Almost two decades later, and after the first successful applications of positional cloning in Endocrine Genetics with the identification of RET, menin, PTEN and PRKAR1A in the various forms of multiple endocrine tumor syndromes, and a number of other genes in developmental diseases affecting the pituitary, thyroid, parathyroid, pancreas, adrenal and gonadal glands, endocrinology has made a comeback to the forefront of "genomically"- influenced as well as post-genomic Medicine. This report, using the example of endocrine tumor genetics, presents the process and some of the accomplishments of positional cloning and discusses the influence of endocrinology on contemporary translational research. The author suggests that some of the most traditional endocrine concepts, established in the previous two centuries, could help us understand the complex pathways recently unraveled in cancer genetics and, consequently, other fields. It is suggested that "Endocrine" genes that control cellular signaling act as "conductor" since they regulate differentiation, growth and proliferation. Their complex function and resultant "transcriptomes" are now being investigated by post-genomic Medicine. In cancer research, endocrine genes defy classic definitions of tumor suppressors and oncogenes and regulate gatekeepers, caretakers, and landscapers. In the post-genomic, translational Medicine, Endocrinology once again could help us to understand cellular regulation and pathophysiology and to design new treatments.

Chromosome Mapping↗
PubMed2024

Evaluation of the Master's in Genomic Medicine framework: A national, multiprofessional program to educate health care professionals in NHS England.

PURPOSE: Genomic medicine is revolutionizing health care but requires health care professionals to update their understanding of genomics and its application to clinical practice for successful implementation. To meet this need, Health Education England developed the Master's in Genomic Medicine, a national multiprofessional program to increase genomic literacy in the National Health Service workforce. This study summarizes an evaluation of the program, which will inform its future development. METHODS: Underpinned by Moore's evaluation framework, a mixed methods approach was used to characterize (1) learner demographics, (2) perceptions of the program, (3) knowledge and/or qualifications achieved, and (4) the outcome(s) for practice in the workplace. RESULTS: Learners were a diverse cohort of health care professionals, including doctors, health care scientists, nurses and midwives. Participant satisfaction was high for all elements of the program, including the curriculum, learning environment(s), and multiprofessional cohort(s), despite the challenges of engaging working professionals in part-time learning. Both learners and their managers reported enhanced genomic practice after completion of their studies. CONCLUSION: The Master's in Genomic Medicine program is an effective approach to professional education in genomic medicine. This broad multiprofessional learning complements training aimed at specific groups of health care professionals.

Humans↗
PubMed2003

Developing a platform for genomic medicine in Mexico.

Mexico is preparing to develop a genomic medicine program focused on national health problems. Modern Mexicans result from an admixture of more than 65 native Indian groups with Spaniards, leading to a unique genetic makeup and a characteristic set of disease susceptibilities. Since 1999, more than 100 experts from different fields have joined efforts with government, academia, and industry to identify priorities and goals for genomic medicine in Mexico. The plan includes establishment of an Institute of Genomic Medicine with strong intramural and extramural programs. This project is expected to ease the social and financial burden of health problems in Mexico.

Academies and Institutes↗
PubMed2002

Medical genetics to genomic medicine.

The essay analyses the conceptual and methodological implication of genetics and genomics as applied to medicine. Genomic medicine calls attention to the genome as the ultimate source of life's continuity and variety; and indicates at the least the origin of disease in molecular and genetic variation, and at the most, the role of the genes in all variation, including disease. While the literature of medical genetics, genomics, genomics and proteomics is energized by a keen anticipation of discovery most physicians are still thinking to the genes as merely another proximate cause. To them the thought that functional genomics and genetics are at the heart of life, is needed, based on a more evolutionary oriented views which recognize the individuality and heterogeneity of disease, the continuity of disease expression at the clinical level, and the multiplicity and integration of pathogenetic processes.

Genetics, Medical↗
PubMed2025

Evaluating Patient Experience With Genomic Medicine: A Content Analysis of National Cancer Institute-Designated Cancer Centers' Websites.

BACKGROUND: National Cancer Institute-designated cancer centers (NCI-CCs) throughout the United States are mandated to translate state-of-the-art cancer research to communities and enhance clinical care for patients within their catchment areas. NCI-CCs play a vital role in national cancer initiatives focused on optimizing cancer care via personalized medicine in which improved risk assessment, screening, and genetic testing are foundational. In this era of targeted personalized care, although genetics has been incorporated into cancer centers, it is unknown how these innovations are being communicated to the public and communities served on cancer center websites. There is particularly limited knowledge surrounding how NCI-CCs publicly communicate their efforts to integrate patient-reported experiences with genomics to fulfill their overall mission and reduce the cancer burden in their catchment areas. OBJECTIVE: The objective of this study was to evaluate how NCI-CCs publicly share information on their websites related to cancer center programming and activities to measure and incorporate patients' experiences with the use of genetics to guide cancer care. METHODS: For all NCI-CCs providing clinical care (N=65), we conducted a review of publicly available and published information and assessed five domains relevant to patients' experiences with genomic medicine: whether NCI-CCs (1) provided genetic testing, (2) directly expressed a goal of delivering personalized care, (3) provided pharmacogenomic testing, (4) assessed patient-reported experience measures with genomic medicine (including patient-reported outcomes [PROs] and other patient experience measures [OPEMs]), and (5) indicated an established infrastructure or set of resources to evaluate patient experience. We conducted a content analysis of the publicly available websites of NCI-CCs using the validated directed approach to content analysis. We quantified the results of our content analysis using count measures based on a binary (yes or no) coding scheme. RESULTS: While almost all the NCI-CCs (64/65, 98%) discussed providing personalized care and performing genetic testing on their websites, we found that 58% (38/65) indicated online that they assessed PROs or other patient experience measures with genomic medicine. Fewer centers (25/65, 38%) discussed on their websites having a mechanism for evaluating patients' experiences with genomic medicine that captured broader types of information beyond PROs, such as measures of patient education or care team communication. Finally, approximately 1 in 3 NCI-CCs (23/65, 35%) indicated having an established infrastructure with departmental resources dedicated to monitoring patients' experiences. These centers reflecting a built-in infrastructure were 8% to 12% more likely to publicly communicate targeted activities to assess patients' experiences with genomic medicine. CONCLUSIONS: With the burgeoning use of genomics in research and clinical care, comprehensive evaluation and incorporation of measures of patients' experiences with genomic medicine present a key opportunity to enhance cancer care at NCI-CCs.

Humans↗
PubMed2026

A multicenter survey on BRAF screening for the implementation of perioperative cancer genomic medicine for resectable colorectal oligometastases.

BACKGROUND: Genomic screening is an essential, but potentially time-consuming procedure, especially in neoadjuvant settings. We evaluated the preoperative screening of the BRAF V600E mutation for recruitment to a clinical trial among patients with resectable colorectal oligometastases (CRM). METHODS: In April 2022, an investigator-initiated trial was launched to investigate the efficacy and safety of perioperative use of the BEACON triplet regimen for BRAF V600E mutant resectable CRM. BRAF screening was retrospectively conducted in patients with resected colorectal liver metastases in 2019 for planning the trial and prospectively conducted in preoperative patients with resectable CRM from January 2022 to June 2025 for patient recruitment to the trial. RESULTS: BRAF V600E mutation was detected in 12 (3.2%) of 379 postoperative patients retrospectively and in 36 (1.7%) of 2140 preoperative patients prospectively, with 1840 patients (86.0%) carrying the wild-type and 264 patients (12.3%) classified as untested. The detection rate of the BRAF V600E mutation was significantly lower when the screening was performed prospectively in preoperative patients (P&#x2009;<&#x2009;0.001). The untested rates varied across metastatic organs, with 10.3% in the liver, 18.1% in the lungs, 12.0% in the lymph nodes, 16.7% in the peritoneum, and 7.8% in other organs. The untested rates decreased consistently across semiannual comparisons: 28.5% in the first evaluation, followed by 15.0%, 12.0%, 8.4%, 9.1%, 7.3%, and 7.1% (P&#x2009;<&#x2009;0.01 when compared with the first period). CONCLUSION: Raising physician awareness, as reflected by the untested rate, is a crucial factor in conducting clinical trials to implement perioperative cancer genomic medicine.

Humans↗
PubMed2005

[Genomic medicine: a privilege of developed countries?].

Genomic medicine is defined as the application of the knowledge originating from the Human Genome Project in health sciences. It has a vertiginous advance in developed countries, but its use in developing regions is scanty. This contributes to global health inequalities, stressing one of the greatest ethical problems that mankind is facing. In a study leaded by the University of Toronto Center of Bioethics, 28 highly qualified scientists elaborated a list of the ten most important biotechnologies to improve public health in developing countries. Several of these technologies are successfully applied in countries such as China, Cuba and Mexico. The factors that are hindering the application of such technologies in Chile, are briefly discussed.

Biotechnology↗
PubMed2002

[Pharmacogenomics: the frontiers of genome medicine].

The Human Genome Project provides insights so profound that it has the ability to change everything we know about medicine and how medicines are developed. Pharmacogenomics is defined as studies to identify the genes that are involved in determining the responsiveness to a given drug and to distinguish responders and non-responders to a given drug. Genome sequencing, transcriptome, and proteome analysis are of particular significance in pharmacogenomics. Transcriptome analysis can be done by methods of random cDNA sequencing, mRNA display and, differential hybridization (i.e., cDNA microarray and associated methods). Our results suggest that the pharmacogenomic transcriptome analysis and pharmainformatics have potential as strategies for defining novel drug targets in various diseases. Pharmacogenomics enhances the development, commercialization, and clinical use of conventional pharmaceutical products for common diseases, and it will eventually become a powerful tool for Evidence-Based Medicine. It is also important to predict interindividual pharmacokinetic differences by genetic polymorphisms of transporters or pharmacokinetic changes by transporter-mediated drug interactions during drug development. Pharmacogenomics and pharmainformatics enable us to move quickly and efficiently from targets to appropriate medicines.

Animals↗
PubMed2001

[Genomic medicine].

The International Human Genome Sequencing Consortium announced they have got a draft sequence of the human genome that covers about 94% of the human genome in February, 2001. This statement implies that we will soon have the complete human genome sequence and that we will be able to use genomic information in every field including medicine, drug production as well as prophylaxis of many diseases. Two major advances in technology have made it possible to apply genomic information for medicine: microarray technology and high-throughput sequencing technology. Microarray provides us a new method to classify various diseases on the basis of gene expression and high-throughput sequencing enables us to draw high-resolution SNPs map.

Chromosome Mapping↗
PubMedDate not supplied

[Genomic medicine].

Explore the source record for details and available documents.

Clinical Medicine↗
PubMed2025

Toward an integrated resource for pharmacogenomics (PGx): Survey findings from the genomic medicine communities.

PURPOSE: Pharmacogenomics (PGx) is a critical component of precision health care that aims to improve drug efficacy and reduce adverse events. Terminologies and standards have not always aligned between PGx and broader genomic medicine communities, which is a barrier to PGx implementation. An updated assessment of community barriers, needs, and perspectives is critical to enable more standardized terminologies and interpretation frameworks. METHODS: The Clinical Genome Resource's PGx Interpretation Committee (PGxIC, formerly referred to as the PGx Working Group, PGxWG) conducted 2 surveys targeting the PGx and genomic medicine communities (n = 508) to evaluate perspectives on PGx clinical validity and actionability frameworks, as well as other barriers to PGx implementation. Surveys were tailored toward self-reported familiarity with PGx. Data primarily consisted of free text, which were analyzed using qualitative content analysis methods. RESULTS: Survey responses indicated conflation of terminology across disciplines, including confusion around differing definitions of terms in PGx and non-PGx contexts. Data also indicated broad support for leveraging existing PGx guidelines and framework structures alongside the standardization of approaches and centralization of resources. CONCLUSION: These novel survey results demonstrate broad consensus on the importance of integrating PGx into clinical practice, including support for development of gene-drug response clinical validity and actionability frameworks aligned with Clinical Genome Resource's frameworks for gene-disease relationships.

Humans↗
PubMed2001

Genomic medicine: who will practice it? A call to open arms.

The Human Genome Project and other recent developments will broaden and increase the importance of genetics in health care. "Clinical genetics" will become "genomic medicine" and will no longer be almost the sole purview of genetic specialists-medical geneticists, genetic counselors, and genetic advanced practice nurses. The changing use of genetics in health care will require the acquisition of new knowledge, skills, and attitudes by many health care professionals who are not genetic specialists. Such health care professionals will not only be necessary to the widespread integration of genetics into clinical care, but they will make unique contributions to this integration that will add to the quality of genomic medicine. This new use of genetics in health care will also allow, even require, new ways of working for genetic specialists, who will continue to occupy unique and vital roles.

Delivery of Health Care↗