Journal articles: 'Genetics and genomics/genetics of disease'

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Maserati, Megan, and Sheila A. Alexander. "Genetics and Genomics of Acute Neurologic Disorders." AACN Advanced Critical Care 29, no. 1 (March 15, 2018): 57–75. http://dx.doi.org/10.4037/aacnacc2018566.

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Neurologic diseases and injuries are complex and multifactorial, making risk prediction, targeted treatment modalities, and outcome prognostication difficult and elusive. Genetics and genomics have affected clinical practice in many aspects in medicine, particularly cancer treatment. Advancements in knowledge of genetic and genomic variability in neurologic disease and injury are growing rapidly. Although these data are not yet ready for use in clinical practice, research continues to progress and elucidate information that eventually will provide answers to complex neurologic questions and serve as a platform to provide individualized care plans aimed at improving outcomes. This article provides a focused review of relevant literature on genetics, genomics, and common complex neurologic disease and injury likely to be seen in the acute care setting.

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Baranov, V. S. "Genomics and predictive medicine." Siberian Journal of Clinical and Experimental Medicine 36, no. 4 (December 31, 2021): 14–28. http://dx.doi.org/10.29001/2073-8552-2021-36-4-14-28.

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Progress in understanding of structural and functional human genome organization and deciphering primary DNA sequence in human cells allowed for hitherto unreachable new capabilities of medical genetics in identifying the causes and mechanisms of inherited and inborn pathology. Implementation of genetics into medicine is progressively advancing along with improvement of molecular analysis of genome. Knowledge of genome and its functions allows to provide more accurate diagnosis, predict, to a considerable extent, the presence of genetic predisposition of a person to pathology, and to assess the chances for developing one or another disease. This approach became the basis for a new area of medical genetics named predictive medicine. The progress of predictive medicine refl ects success in tremendous upgrowth of molecular genetic methods and new capabilities of studying structure and functions of genome. Within less than 15 years after deciphering genome, medical genetics has travelled a long way from a single gene analysis to whole genome studies, from screening of genetic associations to systems genetics of multifactorial diseases, from translational to high-precision genetics, and from genetic passport idea to electronic genetic health records. The development of a genetic passport, prognostic genetic testing, and genomic chart of reproductive health is especially relevant for current practical medicine.

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Beecroft, Sarah Jane, Marcus Lombard, David Mowat, Catriona McLean, Anita Cairns, Mark Davis, Nigel G. Laing, and Gianina Ravenscroft. "Genetics of neuromuscular fetal akinesia in the genomics era." Journal of Medical Genetics 55, no. 8 (June 29, 2018): 505–14. http://dx.doi.org/10.1136/jmedgenet-2018-105266.

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Fetal hypokinesia or akinesia encompasses a broad spectrum of disorders, united by impaired movement in utero. Often, the underlying aetiology is genetic in origin, affecting part of the neuromuscular system. The affordable and high-throughput nature of next-generation DNA sequencing has led to an explosion in disease gene discovery across rare diseases, including fetal akinesias. A genetic diagnosis has clinical utility as it may affect management and prognosis and informs recurrence risk, facilitating family planning decisions. More broadly, knowledge of disease genes increasingly allows population-based preconception carrier screening, which has reduced the incidence of recessive diseases in several populations. Despite gains in knowledge of the genetics of fetal akinesia, many families lack a genetic diagnosis. In this review, we describe the developments in Mendelian genetics of neuromuscular fetal akinesia in the genomics era. We examine genetic diagnoses with neuromuscular causes, specifically including the lower motor neuron, peripheral nerve, neuromuscular junction and muscle.

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van Buijtenen, J. P. "Genomics and quantitative genetics." Canadian Journal of Forest Research 31, no. 4 (April 1, 2001): 617–22. http://dx.doi.org/10.1139/x00-171.

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The interaction between genomics and quantitative genetics has been a two-way street. Genomics contributed genetic markers and genetic maps making it possible to study quantitative trait loci (QTLs), and quantitative genetics contributed new theories and computational techniques to deal with the data generated by QTL studies. QTL studies in forest trees have led to the discovery of a few major genes masquerading as quantitative genes, such as genes for rust resistance in several pine species. QTLs for many traits including height growth, leaf traits, wood specific gravity, flowering, frost resistance, disease resistance, and ease of vegetative propagation were found in one or more species. Spring cold hardiness in Douglas-fir (Pseudotsuga menziesii (Mirb.) Franco) holds the record for number of QTLs with 14. Generally the number is under seven. The effects are often large, but this may often be due to small population sizes. At this time the impact on forest tree breeding is small, although the potential is certainly there. An interesting marker aided back-crossing program is underway in American chestnut (Castanea dentata (Marsh.) Borkh.).

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Lopes-Júnior, Luís Carlos, Emiliana Bomfim, and Milena Flória-Santos. "Genetics and Genomics Teaching in Nursing Programs in a Latin American Country." Journal of Personalized Medicine 12, no. 7 (July 12, 2022): 1128. http://dx.doi.org/10.3390/jpm12071128.

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Although the importance of genetics and genomics in nursing education has been widely recognized, surveys carried out in several countries show that these subjects are still limited in nursing undergraduate programs. In Latin America, the teaching of genetics and genomics in nursing programs has never been previously documented. Considering this scenario, we aimed to investigate how genetics and genomics have been taught in undergraduate nursing programs in Brazil. A total of 138 undergraduate nursing program coordinators and 49 faculty members were recruited to participate in this cross-sectional study. After IRB approval, data were collected using an online survey, covering curriculum design, faculty credentials, genetics and/or genomics teaching, as well as their impressions regarding the document “Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics”. Genetics is taught in most of the investigated courses (67.3%), mainly by biologists (77.6%), with master’s degree (83.7%), and with the syllabus mainly focused on molecular biology. More instructors agreed with Competency 2 (C2) which refers to advocating for clients’ access to desired genetic/genomic services and/or resources including support groups as well as C23 which refer to using health promotion/disease prevention practices that incorporate knowledge of genetic and genomic risk factors, than coordinators. That is, the participants’ type of appointment (instructors vs. coordinators) had a significant effect on their agreement level with competencies C2 (χ2 = 6.23, p = 0.041) and C23 (χ2 = 9.36, p = 0.007). Overall, a higher number of participants with both master’s and Ph.D. degrees significantly agreed with competencies C2, C4, which refer to incorporating genetic and genomic technologies and information into registered nurse practice, and C5—demonstrating in practice the importance of tailoring genetic and genomic information and services to clients based on their culture, religion, knowledge level, literacy, and preferred language, when compared to those with Ph.D. only, and those with a master’s degree only (χ2 = 8.73, p = 0.033; χ2 = 8.61, p = 0.033; χ2 = 8.61, p = 0.033, respectively). Our results support reflections on ways to prepare the nursing workforce to deliver personalized nursing care. Additionally, they can be an aid in establishing guidelines for the undergraduate nursing curricula in Brazil and in other Portuguese-speaking countries, as well as in Latin America.

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Howington, Lynnette, Kristina Riddlesperger, and Dennis J. Cheek. "Essential Nursing Competencies for Genetics and Genomics: Implications for Critical Care." Critical Care Nurse 31, no. 5 (October 1, 2011): e1-e7. http://dx.doi.org/10.4037/ccn2011867.

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The implications of genetics and genomics for critical care nurses are becoming more evident, not only in the care provided but also in the numerous medications administered. Genetic causes are being discovered for an increasing number of chronic illnesses and diseases, such as Huntington disease. Because of the scientific and pharmacological advances, leading nursing organizations, such as the American Nurses Association, have established competencies in genetic knowledge for nurses. Such competencies help ensure quality care. Recent advances in the pharmacogenomics of therapy for human immunodeficiency virus disease, cancer, cardiovascular disease, and malignant hyperthermia have indicated a genetic linkage; therefore treatments are targeted toward the genetic aspect of the abnormality. Critical care nurses need knowledge of these genetic conditions and of medications affected by genetic factors.

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Lin, Michelle K., and Matthew J. Farrer. "Genetics and genomics of Parkinson’s disease." Genome Medicine 6, no. 6 (2014): 48. http://dx.doi.org/10.1186/gm566.

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Geschwind, D. H., and J. Flint. "Genetics and genomics of psychiatric disease." Science 349, no. 6255 (September 24, 2015): 1489–94. http://dx.doi.org/10.1126/science.aaa8954.

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Blackwell, Jenefer M. "Genetics and genomics in infectious disease." International Journal of Infectious Diseases 6 (June 2002): S8—S9. http://dx.doi.org/10.1016/s1201-9712(02)90194-3.

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Garofalo, Silvio, Marisa Cornacchione, and Alfonso Di Costanzo. "From Genetics to Genomics of Epilepsy." Neurology Research International 2012 (2012): 1–18. http://dx.doi.org/10.1155/2012/876234.

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The introduction of DNA microarrays and DNA sequencing technologies in medical genetics and diagnostics has been a challenge that has significantly transformed medical practice and patient management. Because of the great advancements in molecular genetics and the development of simple laboratory technology to identify the mutations in the causative genes, also the diagnostic approach to epilepsy has significantly changed. However, the clinical use of molecular cytogenetics and high-throughput DNA sequencing technologies, which are able to test an entire genome for genetic variants that are associated with the disease, is preparing a further revolution in the near future. Molecular Karyotype and Next-Generation Sequencing have the potential to identify causative genes or loci also in sporadic or non-familial epilepsy cases and may well represent the transition from a genetic to a genomic approach to epilepsy.

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Melendro-Oliver, Sara. "Shifting Concepts of Genetic Disease." Science & Technology Studies 17, no. 1 (January 1, 2004): 20–33. http://dx.doi.org/10.23987/sts.55170.

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For many years the rhetoric of the new genetics have been criticised for their inherent determinism, especially in the area of health. The move from genetics to genomics has meant that more than just individual genes will be looked at in the causation of disease. At the same time, the findings from the Human Genome Project have challenged the deterministic assumption of the one gene – one trait tenet. The concept of genetic disease, however, is still predominant and still expanding to include more conditions every day under its name. Here, I look at how the model of genetic causation of disease or what I have called the ‘gene model’ is becoming dominant and how this underlines a process of geneticisation, which does not seem to have stopped under the genomic perspective.

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Khoury, Muin J. "Genetics and genomics in practice: The continuum from genetic disease to genetic information in health and disease." Genetics in Medicine 5, no. 4 (July 2003): 261–68. http://dx.doi.org/10.1097/01.gim.0000076977.90682.a5.

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Kyselová, Jitka, Ladislav Tichý, and Kateřina Jochová. "The role of molecular genetics in animal breeding: A minireview." Czech Journal of Animal Science 66, No. 4 (March 26, 2021): 107–11. http://dx.doi.org/10.17221/251/2020-cjas.

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Current animal breeding approaches are strongly associated with the development of sophisticated molecular genetics methods and techniques. Worldwide expansion of genomic selection can be achieved by the identification of genetic DNA markers and implementation of the microarray (“chip”) technology. Further advancement was associated with next-generation sequencing methods, high-throughput genotyping platforms, targeted genome editing techniques, and studies of epigenetic mechanisms. The remarkable development of “omics” technologies, such as genomics, epigenomics, transcriptomics, proteomics and metabolomics, has enabled individual genomic prediction of animal performance, identification of disease-causing genes and biomarkers for the prevention and treatment and overall qualitative progress in animal production.

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Willis-Owen, Saffron A. G., William O. C. Cookson, and Miriam F. Moffatt. "The Genetics and Genomics of Asthma." Annual Review of Genomics and Human Genetics 19, no. 1 (August 31, 2018): 223–46. http://dx.doi.org/10.1146/annurev-genom-083117-021651.

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Asthma is a common, clinically heterogeneous disease with strong evidence of heritability. Progress in defining the genetic underpinnings of asthma, however, has been slow and hampered by issues of inconsistency. Recent advances in the tools available for analysis—assaying transcription, sequence variation, and epigenetic marks on a genome-wide scale—have substantially altered this landscape. Applications of such approaches are consistent with heterogeneity at the level of causation and specify patterns of commonality with a wide range of alternative disease traits. Looking beyond the individual as the unit of study, advances in technology have also fostered comprehensive analysis of the human microbiome and its varied roles in health and disease. In this article, we consider the implications of these technological advances for our current understanding of the genetics and genomics of asthma.

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Hill, A. V. "Genetics and genomics of infectious disease susceptibility." British Medical Bulletin 55, no. 2 (January 1, 1999): 401–13. http://dx.doi.org/10.1258/0007142991902457.

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Zaidi, Samir, and Martina Brueckner. "Genetics and Genomics of Congenital Heart Disease." Circulation Research 120, no. 6 (March 17, 2017): 923–40. http://dx.doi.org/10.1161/circresaha.116.309140.

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Blackwell, Jenefer M. "Genetics and genomics in infectious disease susceptibility." Trends in Molecular Medicine 7, no. 11 (November 2001): 521–26. http://dx.doi.org/10.1016/s1471-4914(01)02169-4.

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González-Serna, David, Gonzalo Villanueva-Martin, Marialbert Acosta-Herrera, Ana Márquez, and Javier Martín. "Approaching Shared Pathophysiology in Immune-Mediated Diseases through Functional Genomics." Genes 11, no. 12 (December 9, 2020): 1482. http://dx.doi.org/10.3390/genes11121482.

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Immune-mediated diseases (IMDs) are complex pathologies that are strongly influenced by environmental and genetic factors. Associations between genetic loci and susceptibility to these diseases have been widely studied, and hundreds of risk variants have emerged during the last two decades, with researchers observing a shared genetic pattern among them. Nevertheless, the pathological mechanism behind these associations remains a challenge that has just started to be understood thanks to functional genomic approaches. Transcriptomics, regulatory elements, chromatin interactome, as well as the experimental characterization of genomic findings, constitute key elements in the emerging understandings of how genetics affects the etiopathogenesis of IMDs. In this review, we will focus on the latest advances in the field of functional genomics, centering our attention on systemic rheumatic IMDs.

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Saxena, V. K., and Meeta Saxena. "Genetic resistance to diseases in poultry: From genetics to genomics." Indian Journal of Poultry Science 52, no. 1 (2017): 1. http://dx.doi.org/10.5958/0974-8180.2017.00009.5.

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Forstner, Andreas J., Per Hoffmann, Markus M. Nöthen, and Sven Cichon. "Insights into the genomics of affective disorders." Medizinische Genetik 32, no. 1 (May 1, 2020): 9–18. http://dx.doi.org/10.1515/medgen-2020-2003.

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Abstract Affective disorders, or mood disorders, are a group of neuropsychiatric illnesses that are characterized by a disturbance of mood or affect. Most genetic research in this field to date has focused on bipolar disorder and major depression. Symptoms of major depression include a depressed mood, reduced energy, and a loss of interest and enjoyment. Bipolar disorder is characterized by the occurrence of (hypo)manic episodes, which generally alternate with periods of depression. Formal and molecular genetic studies have demonstrated that affective disorders are multifactorial diseases, in which both genetic and environmental factors contribute to disease development. Twin and family studies have generated heritability estimates of 58–85 % for bipolar disorder and 40 % for major depression. Large genome-wide association studies have provided important insights into the genetics of affective disorders via the identification of a number of common genetic risk factors. Based on these studies, the estimated overall contribution of common variants to the phenotypic variability (single-nucleotide polymorphism [SNP]-based heritability) is 17–23 % for bipolar disorder and 9 % for major depression. Bioinformatic analyses suggest that the associated loci and implicated genes converge into specific pathways, including calcium signaling. Research suggests that rare copy number variants make a lower contribution to the development of affective disorders than to other psychiatric diseases, such as schizophrenia or the autism spectrum disorders, which would be compatible with their less pronounced negative impact on reproduction. However, the identification of rare sequence variants remains in its infancy, as available next-generation sequencing studies have been conducted in limited samples. Future research strategies will include the enlargement of genomic data sets via innovative recruitment strategies; functional analyses of known associated loci; and the development of new, etiologically based disease models. Researchers hope that deeper insights into the biological causes of affective disorders will eventually lead to improved diagnostics and disease prediction, as well as to the development of new preventative, diagnostic, and therapeutic strategies. Pharmacogenetics and the application of polygenic risk scores represent promising initial approaches to the future translation of genomic findings into psychiatric clinical practice.

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Fahed, Akl C., Abdul-Karim M. El-Hage-Sleiman, Theresa I. Farhat, and Georges M. Nemer. "Diet, Genetics, and Disease: A Focus on the Middle East and North Africa Region." Journal of Nutrition and Metabolism 2012 (2012): 1–19. http://dx.doi.org/10.1155/2012/109037.

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The Middle East and North Africa (MENA) region suffers a drastic change from a traditional diet to an industrialized diet. This has led to an unparalleled increase in the prevalence of chronic diseases. This review discusses the role of nutritional genomics, or the dietary signature, in these dietary and disease changes in the MENA. The diet-genetics-disease relation is discussed in detail. Selected disease categories in the MENA are discussed starting with a review of their epidemiology in the different MENA countries, followed by an examination of the known genetic factors that have been reported in the disease discussed, whether inside or outside the MENA. Several diet-genetics-disease relationships in the MENA may be contributing to the increased prevalence of civilization disorders of metabolism and micronutrient deficiencies. Future research in the field of nutritional genomics in the MENA is needed to better define these relationships.

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Jonas, M. Cabell, Pim Suwannarat, Andrea Burnett-Hartman, Nikki Carroll, Michelle Turner, Kristen Janes, Christine Truong, Erica Blum-Barnett, Nazneen Aziz, and Elizabeth A. McGlynn. "Physician Experience with Direct-To-Consumer Genetic Testing in Kaiser Permanente." Journal of Personalized Medicine 9, no. 4 (November 1, 2019): 47. http://dx.doi.org/10.3390/jpm9040047.

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Health systems and physicians nationwide aspire to consistently and reliably apply genetic and genomic information to guide disease prevention, management, and treatment. However, clinical information, including genetics/genomics data from within and outside of the care delivery system, is expanding rapidly. Between November 2017 and April 2018, we surveyed 1502 Permanente Medical Group primary care and specialist physicians to assess the degree to which direct-to-consumer genetic test results were being presented to physicians and identify genetics educational needs among physicians (response rate 15%). Adjusted logistic regression (according to respondent characteristics) was used to calculate adjusted odds ratios (ORs) and 95% confidence intervals (CIs) comparing responses within groups. Results showed 35% and 12% of respondents reported receiving at least one direct-to-consumer health risk genetic result (DTC-health risk) or direct-to-consumer pharmacogenomic test result (DTC-PGx), respectively, from a patient in the past year. Of those receiving at least one test result, 40% (DTC-health risk) and 39% (DTC-PGx) of physicians reported 1+ referral(s); 78% (DTC-health risk) and 42% (DTC-PGx) of referrals were to clinical genetics. In total, 85% of physicians would spend ≥2 h/year on genetics/genomics education.

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Joshi, Nikhil, and Jessica Chan. "Female Genomics: Infertility and Overall Health." Seminars in Reproductive Medicine 35, no. 03 (May 2017): 217–24. http://dx.doi.org/10.1055/s-0037-1603095.

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AbstractFemale infertility is a complex disease linked to multiple etiologies including genetic factors. Owing to the multifactorial nature of infertility, it is often difficult to identify single causative genes. Despite this challenge, investigations into the genetic causes of infertility have been performed to shed light on the etiology and for the possibility of developing personalized medical approaches to therapy. Multiple techniques have been utilized to better characterize the genetic origins of this disease, including genome-wide association studies. We present here a review of the genetic causes of female infertility, detailing some of the more recent findings in the genetics of polycystic ovary syndrome, endometriosis, primary ovarian insufficiency, hypothalamic amenorrhea, leiomyomas, and Mullerian anomalies.

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Schadt, E. E., S. A. Monks, and S. H. Friend. "A new paradigm for drug discovery: integrating clinical, genetic, genomic and molecular phenotype data to identify drug targets." Biochemical Society Transactions 31, no. 2 (April 1, 2003): 437–43. http://dx.doi.org/10.1042/bst0310437.

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Application of statistical genetics approaches to variations in mRNA transcript abundances in segregating populations can be used to identify genes and pathways associated with common human diseases. The combination of this genetic information with gene expression and clinical trait data can also be used to identify subtypes of a disease and the genetic loci specific to each subtype. Here we highlight results from some of our recent work in this area and further explore the many possibilities that exist in employing a more comprehensive genetics and functional genomics approach to the functional annotation of genomes, and in applying such methods to the validation of targets for complex traits in the drug discovery process.

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Latendresse, Gwen. "Perinatal Genomics." Annual Review of Nursing Research 29, no. 1 (December 2011): 331–51. http://dx.doi.org/10.1891/0739-6686.29.331.

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Significant maternal, fetal, and newborn morbidity and mortality can be attributed to complications of pregnancy. There are direct links between perinatal complications and poor fetal/newborn development and impaired cognitive function, as well as fetal, newborn, and maternal death. Many perinatal complications have pathophysiologic mechanisms with a genetic basis. The objective of this chapter is to focus on perinatal genomics and the occurrence of two specific complications: preterm birth and dysfunctional placental phenotype. This chapter includes discussions of genetic variation, mutation and inheritance, gene expression, and genetic biomarkers in relation to preterm birth, in addition to the impact of maternal tobacco smoke exposure on placental phenotype. The concept of epigenetics is also addressed, specifically the regulation of gene expression in the placenta and fetal origins of adult health and disease. There is great potential for nurse-researchers to make valuable contributions to perinatal genomics investigations, but this requires perseverance, increased genetics-based understanding and skills, as well as multidisciplinary mentorship.

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Barbey, Christopher R., Seonghee Lee, Sujeet Verma, Kevin A. Bird, Alan E. Yocca, Patrick P. Edger, Steven J. Knapp, Vance M. Whitaker, and Kevin M. Folta. "Disease Resistance Genetics and Genomics in Octoploid Strawberry." G3: Genes|Genomes|Genetics 9, no. 10 (August 16, 2019): 3315–32. http://dx.doi.org/10.1534/g3.119.400597.

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Octoploid strawberry (Fragaria ×ananassa) is a valuable specialty crop, but profitable production and availability are threatened by many pathogens. Efforts to identify and introgress useful disease resistance genes (R-genes) in breeding programs are complicated by strawberry’s complex octoploid genome. Recently-developed resources in strawberry, including a complete octoploid reference genome and high-resolution octoploid genotyping, enable new analyses in strawberry disease resistance genetics. This study characterizes the complete R-gene collection in the genomes of commercial octoploid strawberry and two diploid ancestral relatives, and introduces several new technological and data resources for strawberry disease resistance research. These include octoploid R-gene transcription profiling, dN/dS analysis, expression quantitative trait loci (eQTL) analysis and RenSeq analysis in cultivars. Octoploid fruit eQTL were identified for 76 putative R-genes. R-genes from the ancestral diploids Fragaria vesca and Fragaria iinumae were compared, revealing differential inheritance and retention of various octoploid R-gene subtypes. The mode and magnitude of natural selection of individual F. ×ananassa R-genes was also determined via dN/dS analysis. R-gene sequencing using enriched libraries (RenSeq) has been used recently for R-gene discovery in many crops, however this technique somewhat relies upon a priori knowledge of desired sequences. An octoploid strawberry capture-probe panel, derived from the results of this study, is validated in a RenSeq experiment and is presented for community use. These results give unprecedented insight into crop disease resistance genetics, and represent an advance toward exploiting variation for strawberry cultivar improvement.

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Huttley, Gavin. "COMPUTATIONAL GENETICS AND GENOMICS: TOOLS FOR UNDERSTANDING DISEASE." Immunology & Cell Biology 84, no. 1 (February 2006): 114. http://dx.doi.org/10.1111/j.1440-1711.2005.01411.x.

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Graner, Andreas, Thomas Lahaye, and Beat Keller. "Plant genomics and the genetics of disease resistance." Trends in Genetics 15, no. 10 (October 1999): 391–92. http://dx.doi.org/10.1016/s0168-9525(99)01843-0.

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Silverman, E. K., A. Spira, and P. D. Pare. "Genetics and Genomics of Chronic Obstructive Pulmonary Disease." Proceedings of the American Thoracic Society 6, no. 6 (September 9, 2009): 539–42. http://dx.doi.org/10.1513/pats.200904-021ds.

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Kumar, Dhavendra. "The Genomic and Precision Medicine in Clinical Practice." Physician 6, no. 3 (October 2, 2020): 1–10. http://dx.doi.org/10.38192/1.6.3.1.

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An important milestone in the history of medical science is the recent completion of the human genome sequence. The progress on identification of approximately 22,000 homo sapiens genes and their regulatory regions provides the framework for understanding the molecular basis of disease. This advance has also laid the foundation for a broad range of genomic tools that can be applied to medical science. These developments in the gene and gene product analysis across the whole genome have opened the way for targeted molecular genetic testing in a number of medical disorders. This is destined to change the practice of medicine. The future clinical practice will be more focused, precise, and individualized often referred to as “precision and personalised medicine.” However, despite these exciting advances, many practicing clinicians perceive the role of molecular genetics, in particular, that of medical genomics, as confined to the research arena with limited clinical applications. Genomic medicine applies the knowledge and understanding of all genes and genetic variation in human disease. The basic ingredient of the contemporary practice of medicine is clinical molecular medicine that encompasses genetic, genomic, and molecular applications. This article introduces genomics-based advances in personalised disease-susceptibility screening, diagnosis, prognostication, stratified approach for genomics-led therapeutics, and prediction of treatment outcome in various areas of medicine.

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Krittanawong, Chayakrit, Kipp W. Johnson, Edward Choi, Scott Kaplin, Eric Venner, Mullai Murugan, Zhen Wang, et al. "Artificial Intelligence and Cardiovascular Genetics." Life 12, no. 2 (February 14, 2022): 279. http://dx.doi.org/10.3390/life12020279.

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Polygenic diseases, which are genetic disorders caused by the combined action of multiple genes, pose unique and significant challenges for the diagnosis and management of affected patients. A major goal of cardiovascular medicine has been to understand how genetic variation leads to the clinical heterogeneity seen in polygenic cardiovascular diseases (CVDs). Recent advances and emerging technologies in artificial intelligence (AI), coupled with the ever-increasing availability of next generation sequencing (NGS) technologies, now provide researchers with unprecedented possibilities for dynamic and complex biological genomic analyses. Combining these technologies may lead to a deeper understanding of heterogeneous polygenic CVDs, better prognostic guidance, and, ultimately, greater personalized medicine. Advances will likely be achieved through increasingly frequent and robust genomic characterization of patients, as well the integration of genomic data with other clinical data, such as cardiac imaging, coronary angiography, and clinical biomarkers. This review discusses the current opportunities and limitations of genomics; provides a brief overview of AI; and identifies the current applications, limitations, and future directions of AI in genomics.

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Lee, Hyunhwa, Jessica Gill, Taura Barr, Sijung Yun, and Hyungsuk Kim. "Primer in Genetics and Genomics, Article 2—Advancing Nursing Research With Genomic Approaches." Biological Research For Nursing 19, no. 2 (January 30, 2017): 229–39. http://dx.doi.org/10.1177/1099800416689822.

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Purpose: Nurses investigate reasons for variable patient symptoms and responses to treatments to inform how best to improve outcomes. Genomics has the potential to guide nursing research exploring contributions to individual variability. This article is meant to serve as an introduction to the novel methods available through genomics for addressing this critical issue and includes a review of methodological considerations for selected genomic approaches. Approach: This review presents essential concepts in genetics and genomics that will allow readers to identify upcoming trends in genomics nursing research and improve research practice. It introduces general principles of genomic research and provides an overview of the research process. It also highlights selected nursing studies that serve as clinical examples of the use of genomic technologies. Finally, the authors provide suggestions about how to apply genomic technology in nursing research along with directions for future research. Conclusions: Using genomic approaches in nursing research can advance the understanding of the complex pathophysiology of disease susceptibility and different patient responses to interventions. Nurses should be incorporating genomics into education, clinical practice, and research as the influence of genomics in health-care research and practice continues to grow. Nurses are also well placed to translate genomic discoveries into improved methods for patient assessment and intervention.

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Calzone, Kathleen A., and Jean Jenkins. "Genomics Education in Nursing in the United States." Annual Review of Nursing Research 29, no. 1 (December 2011): 151–72. http://dx.doi.org/10.1891/0739-6686.29.151.

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Discovery of the genetics/genomics underpinnings of health, risk for disease, sickness, and treatment response have the prospects of improving recognition and management of at risk individuals; improving screening, prognostics, and therapeutic decision-making; expanding targeted therapies; and improving the accuracy of medication dosing and selection based on drug metabolism genetic variation. Thus, genetics/genomics science, information, and technologies infl uence the entire health care continuum and are fundamental to the nursing profession. Translating the benefi ts of genetics and genomics into health care requires that nurses are knowledgeable about and able to integrate this information and technology into their practice. This chapter explores the development of essential nursing competences in genetics and genomics and outcome indicators. Included is an overview of projects aimed at measuring and/or supporting adoption and integration of such competencies. Included as well is an update reviewing current evidence of the state of genomics nursing education in the United States and recommendations for next steps.

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Koromina, Maria, Vasileios Fanaras, Gareth Baynam, Christina Mitropoulou, and George P. Patrinos. "Ethics and equity in rare disease research and healthcare." Personalized Medicine 18, no. 4 (July 2021): 407–16. http://dx.doi.org/10.2217/pme-2020-0144.

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Rapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing. Moreover, we focus on addressing ethical issues surrounding research in low- and middle-income countries. Overall, this perspective aims to address key aspects and issues for building proper ethical frameworks, when conducting research involving genomics data with a particular emphasis on rare diseases and genetics testing.

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Kannan, Maathavi, Zamri Zainal, Ismanizan Ismail, Syarul Nataqain Baharum, and Hamidun Bunawan. "Application of Reverse Genetics in Functional Genomics of Potyvirus." Viruses 12, no. 8 (July 26, 2020): 803. http://dx.doi.org/10.3390/v12080803.

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Numerous potyvirus studies, including virus biology, transmission, viral protein function, as well as virus–host interaction, have greatly benefited from the utilization of reverse genetic techniques. Reverse genetics of RNA viruses refers to the manipulation of viral genomes, transfection of the modified cDNAs into cells, and the production of live infectious progenies, either wild-type or mutated. Reverse genetic technology provides an opportunity of developing potyviruses into vectors for improving agronomic traits in plants, as a reporter system for tracking virus infection in hosts or a production system for target proteins. Therefore, this review provides an overview on the breakthroughs achieved in potyvirus research through the implementation of reverse genetic systems.

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Morrell, Nicholas W., Micheala A. Aldred, Wendy K. Chung, C. Gregory Elliott, William C. Nichols, Florent Soubrier, Richard C. Trembath, and James E. Loyd. "Genetics and genomics of pulmonary arterial hypertension." European Respiratory Journal 53, no. 1 (January 2019): 1801899. http://dx.doi.org/10.1183/13993003.01899-2018.

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Since 2000 there have been major advances in our understanding of the genetic and genomics of pulmonary arterial hypertension (PAH), although there remains much to discover. Based on existing knowledge, around 25–30% of patients diagnosed with idiopathic PAH have an underlying Mendelian genetic cause for their condition and should be classified as heritable PAH (HPAH). Here, we summarise the known genetic and genomic drivers of PAH, the insights these provide into pathobiology, and the opportunities afforded for development of novel therapeutic approaches. In addition, factors determining the incomplete penetrance observed in HPAH are discussed. The currently available approaches to genetic testing and counselling, and the impact of a genetic diagnosis on clinical management of the patient with PAH, are presented. Advances in DNA sequencing technology are rapidly expanding our ability to undertake genomic studies at scale in large cohorts. In the future, such studies will provide a more complete picture of the genetic contribution to PAH and, potentially, a molecular classification of this disease.

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Geng, Linda N., Jennefer N. Kohler, Peter Levonian, Jonathan A. Bernstein, James M. Ford, Neera Ahuja, Ronald Witteles, Jason Hom, and Matthew Wheeler. "Genomics in medicine: a novel elective rotation for internal medicine residents." Postgraduate Medical Journal 95, no. 1128 (August 22, 2019): 569–72. http://dx.doi.org/10.1136/postgradmedj-2018-136355.

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It is well recognised that medical training globally and at all levels lacks sufficient incorporation of genetics and genomics education to keep up with the rapid advances and growing application of genomics to clinical care. However, the best strategy to implement these desired changes into postgraduate medical training and engage learners is still unclear. We developed a novel elective rotation in ‘Genomic Medicine and Undiagnosed Diseases’ for categorical Internal Medicine Residents to address this educational gap and serve as an adaptable model for training that can be applied broadly across different specialties and at other institutions. Key curriculum goals achieved include increased understanding about genetic testing modalities and tools available for diagnosis and risk analysis, the role of genetics-trained allied health professionals, and indications and limitations of genetic and genomic testing in both rare and common conditions.

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Melo, Débora Gusmão, André Anjos da Silva, Antonette Souto El Husny, and Victor Evangelista de Faria Ferraz. "Perfil de Competência em Genética para Médicos do Brasil: uma Proposta da Sociedade Brasileira de Genética Médica e Genômica." Revista Brasileira de Educação Médica 43, no. 1 suppl 1 (2019): 440–50. http://dx.doi.org/10.1590/1981-5271v43suplemento1-20180257.

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ABSTRACT Training in genetics is fundamental to understanding the biological aspects of the health-disease binomial. Moreover, with the change in the epidemiological profile, genetically determined disorders have become more relevant as a public health concern. Thus, managing these disorders in an ethical and diligent manner, both in patients and in their families, and considering the logic and policies of the Brazilian Unified Health System (SUS), has become a desirable competency for all physicians, impacting on their undergraduate training. Viewing this issue as relevant, the Brazilian Society of Medical Genetics and Genomics (SBGM) defined the desirable competencies in genetics for Brazilian physicians, tied to the public policies related to medical genetics in Brazil. This paper is a theoretical essay that aims to contextualize and present the competency profile in Genetics for physicians proposed by the SBGM. The proficiency profile, presented and discussed in this essay, was structured based on four essential competencies: (1) to recognise the necessity for continuing education, regularly examining one’s own clinical competency, identifying learning gaps and the advances of genetics and of genomics over time; (2) to identify individuals that present or can develop a genetic disorder and know how and when to refer the patient to a specialist in medical genetics; (3) to manage patients with previously diagnosed genetic disorders and/or birth defects, employing established clinical guidelines in the scope of their professional role; and (4) to promote and stimulate clinical and education practices aimed at preventing genetic disorders and birth defects. The knowledge, skills and attitudes required for attaining these four competencies were identified. Therefore, a competency-based theoretical reference is presented to support the teaching of genetics during medical training. It is proposed that this essential competency profile in genetics should be adopted in all Brazilian medical schools with the purpose of training physicians better prepared for the current demands of the SUS. Furthermore, this competency profile can support continuing professional education actions in the area of Genetics, in order to qualify SUS staff in relation to genetic disorders and birth defects.

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Zhang, Peng, Bernd Friebe, Bikram Gill, and R. F. Park. "Cytogenetics in the age of molecular genetics." Australian Journal of Agricultural Research 58, no. 6 (2007): 498. http://dx.doi.org/10.1071/ar07054.

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From the beginning of the 20th Century, we have seen tremendous advances in knowledge and understanding in almost all biological disciplines, including genetics, molecular biology, structural and functional genomics, and biochemistry. Among these advances, cytogenetics has played an important role. This paper details some of the important milestones of modern cytogenetics. Included are the historical role of cytogenetics in genetic studies in general and the genetics stocks produced using cytogenetic techniques. The basic biological questions cytogenetics can address and the important role and practical applications of cytogenetics in applied sciences, such as in agriculture and in breeding for disease resistance in cereals, are also discussed. The goal of this paper is to show that cytogenetics remains important in the age of molecular genetics, because it is inseparable from overall genome analysis. Cytogenetics complements studies in other disciplines within the field of biology and provides the basis for linking genetics, molecular biology and genomics research.

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Cresci, Sharon. "PPAR Genomics and Pharmacogenomics: Implications for Cardiovascular Disease." PPAR Research 2008 (2008): 1–11. http://dx.doi.org/10.1155/2008/374549.

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The peroxisome proliferator-activated receptors (PPARs) consist of three related transcription factors that serve to regulate a number of cellular processes that are central to cardiovascular health and disease. Numerous pharmacologic studies have assessed the effects of specific PPAR agonists in clinical trials and have provided insight into the clinical effects of these genes while genetic studies have demonstrated clinical associations between PPAR polymorphisms and abnormal cardiovascular phenotypes. With the abundance of data available from these studies as a background, PPAR pharmacogenetics has become a promising and rapidly advancing field. This review focuses on summarizing the current state of understanding of PPAR genetics and pharmacogenetics and the important implications for the individualization of therapy for patients with cardiovascular diseases.

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Curren, Liam, Jane Kaye, Paula Boddington, Karen Melham, Naomi Hawkins, Heather Gowans, and Nadja Kanellopoulou. "Identifiability, Genomics and UK Data Protection Law." European Journal of Health Law 17, no. 4 (2010): 329–44. http://dx.doi.org/10.1163/157180910x516943.

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AbstractAnalyses of individuals’ genomes — their entire DNA sequence — have increased knowledge about the links between genetics and disease. Anticipated advances in ‘next generation’ DNA-sequencing techniques will see the routine research use of whole genomes, rather than distinct parts, within the next few years. The scientific benefits of genomic research are, however, accompanied by legal and ethical concerns. Despite the assumption that genetic research data can and will be rendered anonymous, participants’ identities can sometimes be elucidated, which could cause data protection legislation to apply. We undertake a timely reappraisal of these laws — particularly new penalties — and identifiability in genomic research.

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Star, Kremema, and Barbara Birshtein. "Genomic Medicine." Einstein Journal of Biology and Medicine 23, no. 1 (March 2, 2016): 21. http://dx.doi.org/10.23861/ejbm20072358.

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The human genome project created the field of genomics – understanding genetic material on a large scale. Scientists are deciphering the information held within the sequence of our genome. By building upon this knowledge, physicians and scientists will create fundamental new technologies to understand the contribution of genetics to diagnosis, prognosis, monitoring, and treatment of human disease. The science of genomic medicine has only begun to affect our understanding of health.

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Kague, Erika, and David Karasik. "Functional Validation of Osteoporosis Genetic Findings Using Small Fish Models." Genes 13, no. 2 (January 30, 2022): 279. http://dx.doi.org/10.3390/genes13020279.

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The advancement of human genomics has revolutionized our understanding of the genetic architecture of many skeletal diseases, including osteoporosis. However, interpreting results from human association studies remains a challenge, since index variants often reside in non-coding regions of the genome and do not possess an obvious regulatory function. To bridge the gap between genetic association and causality, a systematic functional investigation is necessary, such as the one offered by animal models. These models enable us to identify causal mechanisms, clarify the underlying biology, and apply interventions. Over the past several decades, small teleost fishes, mostly zebrafish and medaka, have emerged as powerful systems for modeling the genetics of human diseases. Due to their amenability to genetic intervention and the highly conserved genetic and physiological features, fish have become indispensable for skeletal genomic studies. The goal of this review is to summarize the evidence supporting the utility of Zebrafish (Danio rerio) for accelerating our understanding of human skeletal genomics and outlining the remaining gaps in knowledge. We provide an overview of zebrafish skeletal morphophysiology and gene homology, shedding light on the advantages of human skeletal genomic exploration and validation. Knowledge of the biology underlying osteoporosis through animal models will lead to the translation into new, better and more effective therapeutic approaches.

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Степанов, В. А. "Population Genomics of Russian populations." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 7(216) (July 30, 2020): 6–7. http://dx.doi.org/10.25557/2073-7998.2020.07.6-7.

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Популяционная геномика человека является мощным современным подходом в популяционной генетике, базирующемся на технологиях геномного секвенирования, биоинформатики и анализа больших данных. Геномный анализ генетической вариабельности в популяциях является фундаментальной основой генетики болезней и разработки путей их диагностики, терапии и профилактики. В работе представлены собственные данные о геномном анализе генетического разнообразия населения России. Показано, что генофонд современных народов России формировался на протяжении многих тысяч лет в ходе совокупного влияния миграций, изоляции расстоянием, эффектов основателя и естественного отбора. Сформировавшиеся в ходе микроэволюции геномные паттерны современных популяций в существенной мере определяют композицию генетических факторов как частых хронических, так и редких моногенных заболеваний. Human population genomics is a powerful modern approach in population genetics based on technologies of genomic sequencing, bioinformatics, and big data analysis. Genomic analysis of genetic variability in populations is a fundamental basis for the genetics of diseases and the development of ways for their diagnosis, therapy and prevention. The work presents the own data on the genomic analysis of the genetic diversity of the Russian populations. It is shown that the gene pool of modern populations of Russia was formed over many thousands of years by the combined effects of migrations, isolation by distance, founder effects and natural selection. The genomic patterns of modern populations formed during microevolution substantially determine the composition of genetic factors of both frequent chronic and rare monogenic diseases.

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Luttropp, Karin, Bengt Lindholm, Juan Jesus Carrero, Griet Glorieux, Eva Schepers, Raymond Vanholder, Martin Schalling, Peter Stenvinkel, and Louise Nordfors. "Genetics/Genomics in Chronic Kidney Disease-Towards Personalized Medicine?" Seminars in Dialysis 22, no. 4 (July 2009): 417–22. http://dx.doi.org/10.1111/j.1525-139x.2009.00592.x.

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Poland, Haley. "Integrating genomics against infectious disease." Nature Genetics 38, no. 5 (May 2006): 513–14. http://dx.doi.org/10.1038/ng0506-513.

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Fitak, Robert R., Jennifer D. Antonides, Eric J. Baitchman, Elisa Bonaccorso, Josephine Braun, Steven Kubiski, Elliott Chiu, et al. "The Expectations and Challenges of Wildlife Disease Research in the Era of Genomics: Forecasting with a Horizon Scan-like Exercise." Journal of Heredity 110, no. 3 (January 12, 2019): 261–74. http://dx.doi.org/10.1093/jhered/esz001.

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Abstract The outbreak and transmission of disease-causing pathogens are contributing to the unprecedented rate of biodiversity decline. Recent advances in genomics have coalesced into powerful tools to monitor, detect, and reconstruct the role of pathogens impacting wildlife populations. Wildlife researchers are thus uniquely positioned to merge ecological and evolutionary studies with genomic technologies to exploit unprecedented “Big Data” tools in disease research; however, many researchers lack the training and expertise required to use these computationally intensive methodologies. To address this disparity, the inaugural “Genomics of Disease in Wildlife” workshop assembled early to mid-career professionals with expertise across scientific disciplines (e.g., genomics, wildlife biology, veterinary sciences, and conservation management) for training in the application of genomic tools to wildlife disease research. A horizon scanning-like exercise, an activity to identify forthcoming trends and challenges, performed by the workshop participants identified and discussed 5 themes considered to be the most pressing to the application of genomics in wildlife disease research: 1) “Improving communication,” 2) “Methodological and analytical advancements,” 3) “Translation into practice,” 4) “Integrating landscape ecology and genomics,” and 5) “Emerging new questions.” Wide-ranging solutions from the horizon scan were international in scope, itemized both deficiencies and strengths in wildlife genomic initiatives, promoted the use of genomic technologies to unite wildlife and human disease research, and advocated best practices for optimal use of genomic tools in wildlife disease projects. The results offer a glimpse of the potential revolution in human and wildlife disease research possible through multi-disciplinary collaborations at local, regional, and global scales.

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Bellen, Hugo J., Michael F. Wangler, and Shinya Yamamoto. "The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases." Human Molecular Genetics 28, R2 (June 22, 2019): R207—R214. http://dx.doi.org/10.1093/hmg/ddz135.

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Abstract Drosophila melanogaster is a unique, powerful genetic model organism for studying a broad range of biological questions. Human studies that probe the genetic causes of rare and undiagnosed diseases using massive-parallel sequencing often require complementary gene function studies to determine if and how rare variants affect gene function. These studies also provide inroads to disease mechanisms and therapeutic targets. In this review we discuss strategies for functional studies of rare human variants in Drosophila. We focus on our experience in establishing a Drosophila core of the Model Organisms Screening Center for the Undiagnosed Diseases Network (UDN) and concurrent fly studies with other large genomic rare disease research efforts such as the Centers for Mendelian Genomics. We outline four major strategies that use the latest technology in fly genetics to understand the impact of human variants on gene function. We also mention general concepts in probing disease mechanisms, therapeutics and using rare disease to understand common diseases. Drosophila is and will continue to be a fundamental genetic model to identify new disease-causing variants, pathogenic mechanisms and drugs that will impact medicine.

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Melo, Débora Gusmão, André Anjos da Silva, Antonette Souto El Husny, and Victor Evangelista de Faria Ferraz. "Competency Profile in Genetics for Physicians in Brazil: A Proposal of the Brazilian Society of Medical Genetics and Genomics." Revista Brasileira de Educação Médica 43, no. 1 suppl 1 (2019): 440–50. http://dx.doi.org/10.1590/1981-5271v43suplemento1-20180257.ing.

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ABSTRACT Training in genetics is fundamental to understanding the biological aspects of the health-disease binomial. Moreover, with the change in the epidemiological profile, genetically determined disorders have become more relevant as a public health concern. Thus, managing these disorders in an ethical and diligent manner, both in patients and in their families, and considering the logic and policies of the Brazilian Unified Health System (SUS), has become a desirable competency for all physicians, impacting on their undergraduate training. Viewing this issue as relevant, the Brazilian Society of Medical Genetics and Genomics (SBGM) defined the desirable competencies in genetics for Brazilian physicians, tied to the public policies related to medical genetics in Brazil. This paper is a theoretical essay that aims to contextualize and present the competency profile in Genetics for physicians proposed by the SBGM. The proficiency profile, presented and discussed in this essay, was structured based on four essential competencies: (1) to recognise the necessity for continuing education, regularly examining one’s own clinical competency, identifying learning gaps and the advances of genetics and of genomics over time; (2) to identify individuals that present or can develop a genetic disorder and know how and when to refer the patient to a specialist in medical genetics; (3) to manage patients with previously diagnosed genetic disorders and/or birth defects, employing established clinical guidelines in the scope of their professional role; and (4) to promote and stimulate clinical and education practices aimed at preventing genetic disorders and birth defects. The knowledge, skills and attitudes required for attaining these four competencies were identified. Therefore, a competency-based theoretical reference is presented to support the teaching of genetics during medical training. It is proposed that this essential competency profile in genetics should be adopted in all Brazilian medical schools with the purpose of training physicians better prepared for the current demands of the SUS. Furthermore, this competency profile can support continuing professional education actions in the area of Genetics, in order to qualify SUS staff in relation to genetic disorders and birth defects.

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Jayasinghe, Kushani, Zornitza Stark, Chirag Patel, Amali Mallawaarachchi, Hugh McCarthy, Randall Faull, Aron Chakera, et al. "Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol." BMJ Open 9, no. 8 (August 2019): e029541. http://dx.doi.org/10.1136/bmjopen-2019-029541.

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IntroductionRecent advances in genomic technology have allowed better delineation of renal conditions, the identification of new kidney disease genes and subsequent targets for therapy. To date, however, the utility of genomic testing in a clinically ascertained, prospectively recruited kidney disease cohort remains unknown. The aim of this study is to explore the clinical utility and cost-effectiveness of genomic testing within a national cohort of patients with suspected genetic kidney disease who attend multidisciplinary renal genetics clinics.Methods and analysisThis is a prospective observational cohort study performed at 16 centres throughout Australia. Patients will be included if they are referred to one of the multidisciplinary renal genetics clinics and are deemed likely to have a genetic basis to their kidney disease by the multidisciplinary renal genetics team. The expected cohort consists of 360 adult and paediatric patients recruited by December 2018 with ongoing validation cohort of 140 patients who will be recruited until June 2020. The primary outcome will be the proportion of patients who receive a molecular diagnosis via genomic testing (diagnostic rate) compared with usual care. Secondary outcomes will include change in clinical diagnosis following genomic testing, change in clinical management following genomic testing and the cost-effectiveness of genomic testing compared with usual care.Ethics and disseminationThe project has received ethics approval from the Melbourne Health Human Research Ethics Committee as part of the Australian Genomics Health Alliance protocol: HREC/16/MH/251. All participants will provide written informed consent for data collection and to undergo clinically relevant genetic/genomic testing. The results of this study will be published in peer-reviewed journals and will also be presented at national and international conferences.

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Journal articles on the topic 'Genetics and genomics/genetics of disease'

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