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Cell Mar 2019In the wake of the Human Genome Project (HGP), strong expectations were set for the timeline and impact of genomics on medicine-an anticipated transformation in the... (Review)
Review
In the wake of the Human Genome Project (HGP), strong expectations were set for the timeline and impact of genomics on medicine-an anticipated transformation in the diagnosis, treatment, and prevention of disease. In this Perspective, we take stock of the nascent field of genomic medicine. In what areas, if any, is genomics delivering on this promise, or is the path to success clear? Where are we falling short, and why? What have been the unanticipated developments? Overall, we argue that the optimism surrounding the transformational potential of genomics on medicine remains justified, albeit with a considerably different form and timescale than originally projected. We also argue that the field needs to pivot back to basics, as understanding the entirety of the genotype-to-phenotype equation is a likely prerequisite for delivering on the full potential of the human genome to advance the human condition.
Topics: Genetic Testing; Genome, Human; Genomics; Human Genome Project; Humans; Precision Medicine
PubMed: 30901547
DOI: 10.1016/j.cell.2019.02.003 -
British Medical Bulletin Jun 2018Genomic technology can now deliver cost effective, targeted diagnosis and treatment for patients. Genetic counselling is a communication process empowering patients and... (Review)
Review
BACKGROUND
Genomic technology can now deliver cost effective, targeted diagnosis and treatment for patients. Genetic counselling is a communication process empowering patients and families to make autonomous decisions and effectively use new genetic information. The skills of genetic counselling and expertise of genetic counsellors are integral to the effective implementation of genomic medicine.
SOURCES OF DATA
Original papers, reviews, guidelines, policy papers and web-resources.
AREAS OF AGREEMENT
An international consensus on the definition of genetic counselling. Genetic counselling is necessary for implementation of genomic medicine.
AREAS OF CONTROVERSY
Models of genetic counselling.
GROWING POINTS
Genomic medicine is a growing and strategic priority for many health care systems. Genetic counselling is part of this.
AREAS TIMELY FOR DEVELOPING RESEARCH
An evidence base is necessary, incorporating implementation and outcome research, to enable health care systems, practitioners, patients and families to maximize the utility (medically and psychologically) of the new genomic possibilities.
Topics: Biomedical Research; Decision Making; Genetic Counseling; Genetic Diseases, Inborn; Genetic Testing; Humans; Patient Education as Topic
PubMed: 29617718
DOI: 10.1093/bmb/ldy008 -
Journal of Diabetes Investigation Sep 2018Diabetes has become a major burden of healthcare expenditure. Diabetes management following a uniform treatment algorithm is often associated with progressive treatment... (Review)
Review
Diabetes has become a major burden of healthcare expenditure. Diabetes management following a uniform treatment algorithm is often associated with progressive treatment failure and development of diabetic complications. Recent advances in our understanding of the genomic architecture of diabetes and its complications have provided the framework for development of precision medicine to personalize diabetes prevention and management. In the present review, we summarized recent advances in the understanding of the genetic basis of diabetes and its complications. From a clinician's perspective, we attempted to provide a balanced perspective on the utility of genomic medicine in the field of diabetes. Using genetic information to guide management of monogenic forms of diabetes represents the best-known examples of genomic medicine for diabetes. Although major strides have been made in genetic research for diabetes, its complications and pharmacogenetics, ongoing efforts are required to translate these findings into practice by incorporating genetic information into a risk prediction model for prioritization of treatment strategies, as well as using multi-omic analyses to discover novel drug targets with companion diagnostics. Further research is also required to ensure the appropriate use of this information to empower individuals and healthcare professionals to make personalized decisions for achieving the optimal outcome.
Topics: Diabetes Mellitus; Disease Management; Humans; Pharmacogenetics; Precision Medicine; Risk Factors
PubMed: 29499103
DOI: 10.1111/jdi.12830 -
Physiological Genomics Aug 2018Genomic sequencing has undergone massive expansion in the past 10 yr, from a rarely used research tool into an approach that has broad applications in a clinical... (Review)
Review
Genomic sequencing has undergone massive expansion in the past 10 yr, from a rarely used research tool into an approach that has broad applications in a clinical setting. From rare disease to cancer, genomics is transforming our knowledge of biology. The transition from targeted gene sequencing, to whole exome sequencing, to whole genome sequencing has only been made possible due to rapid advancements in technologies and informatics that have plummeted the cost per base of DNA sequencing and analysis. The tools of genomics have resolved the etiology of disease for previously undiagnosable conditions, identified cancer driver gene variants, and have impacted the understanding of pathophysiology for many diseases. However, this expansion of use has also highlighted research's current voids in knowledge. The lack of precise animal models for gene-to-function association, lack of tools for analysis of genomic structural changes, skew in populations used for genetic studies, publication biases, and the "Unknown Proteome" all contribute to voids needing filled for genomics to work in a fast-paced clinical setting. The future will hold the tools to fill in these voids, with new data sets and the continual development of new technologies allowing for expansion of genomic medicine, ushering in the days to come for precision medicine. In this review we highlight these and other points in hopes of advancing and guiding precision medicine into the future for optimal success.
Topics: Animals; Computational Biology; Disease; Forecasting; Genomics; High-Throughput Nucleotide Sequencing; Humans; Neoplasms; Precision Medicine; Sequence Analysis, DNA; Exome Sequencing
PubMed: 29727589
DOI: 10.1152/physiolgenomics.00046.2018 -
International Journal of Molecular... Dec 2021Adverse drug reactions (ADRs) rank as one of the top 10 leading causes of death and illness in developed countries. ADRs show differential features depending upon... (Review)
Review
Adverse drug reactions (ADRs) rank as one of the top 10 leading causes of death and illness in developed countries. ADRs show differential features depending upon genotype, age, sex, race, pathology, drug category, route of administration, and drug-drug interactions. Pharmacogenomics (PGx) provides the physician effective clues for optimizing drug efficacy and safety in major problems of health such as cardiovascular disease and associated disorders, cancer and brain disorders. Important aspects to be considered are also the impact of immunopharmacogenomics in cutaneous ADRs as well as the influence of genomic factors associated with COVID-19 and vaccination strategies. Major limitations for the routine use of PGx procedures for ADRs prevention are the lack of education and training in physicians and pharmacists, poor characterization of drug-related PGx, unspecific biomarkers of drug efficacy and toxicity, cost-effectiveness, administrative problems in health organizations, and insufficient regulation for the generalized use of PGx in the clinical setting. The implementation of PGx requires: (i) education of physicians and all other parties involved in the use and benefits of PGx; (ii) prospective studies to demonstrate the benefits of PGx genotyping; (iii) standardization of PGx procedures and development of clinical guidelines; (iv) NGS and microarrays to cover genes with high PGx potential; and (v) new regulations for PGx-related drug development and PGx drug labelling.
Topics: Biomarkers; Cardiovascular Diseases; Central Nervous System Diseases; Cost-Benefit Analysis; Drug Development; Drug-Related Side Effects and Adverse Reactions; Genotype; Humans; Neoplasms; Pharmaceutical Preparations; Pharmacogenetics; Phenotype; COVID-19 Drug Treatment
PubMed: 34948113
DOI: 10.3390/ijms222413302 -
Annual Review of Genomics and Human... Aug 2022Since the completion of the Human Genome Project, considerable progress has been made in translating knowledge about the genetic basis of disease risk and treatment... (Review)
Review
Since the completion of the Human Genome Project, considerable progress has been made in translating knowledge about the genetic basis of disease risk and treatment response into clinical services and public health interventions that have greater precision. It is anticipated that more precision approaches to early detection, prevention, and treatment will be developed and will enhance equity in healthcare and outcomes among disparity populations. Reduced access to genomic medicine research, clinical services, and public health interventions has the potential to exacerbate disparities in genomic medicine. The purpose of this article is to describe these challenges to equity in genomic medicine and identify opportunities and future directions for addressing these issues. Efforts are needed to enhance access to genomic medicine research, clinical services, and public health interventions, and additional research that examines the clinical utility of precision medicine among disparity populations should be prioritized to ensure equity in genomic medicine.
Topics: Delivery of Health Care; Genomic Medicine; Genomics; Humans; Precision Medicine
PubMed: 35363547
DOI: 10.1146/annurev-genom-112921-022635 -
Ugeskrift For Laeger Apr 2019Genomic medicine refers to genomics and bioinformatics in the context of clinical care and diagnostics. Due to the generic and technology-based nature of the field,... (Review)
Review
Genomic medicine refers to genomics and bioinformatics in the context of clinical care and diagnostics. Due to the generic and technology-based nature of the field, genomic medicine relates to a broad variety of medical specialities. Genomic medicine is fuelled by the rapid development of next generation sequencing technologies, which allow rapid sequencing of a complete human genome. In this way genomic data have become part of the early stages of the diagnostic workup. This review provides a brief description of the current status and perspectives of genomic medicine.
Topics: Genome, Human; Genomics; High-Throughput Nucleotide Sequencing; Humans; Precision Medicine
PubMed: 30950375
DOI: No ID Found -
British Medical Bulletin Sep 2017Effective data sharing does not occur in the UK despite being essential for the delivery of high-quality genomic services to patients across clinical specialities and to... (Review)
Review
INTRODUCTION
Effective data sharing does not occur in the UK despite being essential for the delivery of high-quality genomic services to patients across clinical specialities and to optimize advances in genomic medicine.
SOURCES OF DATA
Original papers, reviews, guidelines, policy papers and web-resources.
AREAS OF AGREEMENT
Data sharing for genomic medicine requires appropriate infrastructure and policies, together with acceptance by health professionals and the public of the necessity of data sharing for clinical care.
AREAS OF CONTROVERSY
There is ongoing debate around the different technical approaches and safeguards that could be used to facilitate data sharing while minimizing the risks to individuals of identification. Lack of consensus undermines trust and confidence.
GROWING POINTS
Ongoing policy developments around genomics and health data create opportunities to ensure systems and policies are in place to support proportionate, effective and safeguarded data sharing.
AREAS TIMELY FOR DEVELOPING RESEARCH
Mechanisms to improve public trust.
Topics: Genomics; Humans; Information Dissemination; Policy Making
PubMed: 28910995
DOI: 10.1093/bmb/ldx024 -
Clinical Pharmacology and Therapeutics Aug 2013This issue of Clinical Pharmacology & Therapeutics is devoted to genomic medicine, and a reader may reasonably ask what we mean when we use those words. In the initial...
This issue of Clinical Pharmacology & Therapeutics is devoted to genomic medicine, and a reader may reasonably ask what we mean when we use those words. In the initial issue of the journal Genomics in 1987, McKusick and Ruddle pointed out that the descriptor "genome" had been coined in 1920 as a hybrid of "gene" and "chromosome," and that their new journal would focus on the "newly-developing discipline of mapping/sequencing (including analysis of the information)." A key milestone in the field was the generation of the first draft of a human genome in 2000, but this success really represents only one of many milestones in the journey from Mendel to MiSeq.
Topics: Genome, Human; Genomics; Humans; Precision Medicine; Sequence Analysis, DNA; Terminology as Topic
PubMed: 23872826
DOI: 10.1038/clpt.2013.101 -
Cancer Biology & Medicine Aug 2023
Topics: Humans; Thailand; Genomic Medicine; Neoplasms
PubMed: 37615313
DOI: 10.20892/j.issn.2095-3941.2023.0175