Primer in Genetics and Genomics, Article 1

2016 ◽  
Vol 19 (1) ◽  
pp. 7-17 ◽  
Author(s):  
Janice S. Dorman ◽  
Mandy J. Schmella ◽  
Susan W. Wesmiller

Precision medicine refers to the practice of determining a patient’s unique genetic, biomarker, and other characteristics for the purpose of improving his or her clinical outcomes. Not all patients with the same clinical diagnosis respond equally to identical treatment regimens. By examining patients at the molecular level, health-care providers will be better able to apply the most effective therapies that each individual requires. To understand precision medicine, nurses must have a solid understanding of genomics and proteomics. The purpose of this article is to (1) provide a historical review of what and how we have learned about the genome, particularly in the past century, (2) explain the processes whereby genetic information in cellular DNA is transcribed to messenger RNA and translated to protein, and (3) introduce genetic and epigenetic mechanisms that regulate gene expression.

Author(s):  
Sun Joo (Grace) Ahn ◽  
Jesse Fox

Immersive virtual environments (IVEs) are systems comprised of digital devices that simulate multiple layers of sensory information so that users experience sight, sound, and even touch like they do in the physical world. Users are typically represented in these environments in the form of virtual humans and may interact with other virtual representations such as health-care providers, coaches, future selves, or treatment stimuli (e.g., phobia triggers, such as crowds of people or spiders). These virtual representations can be controlled by humans (avatars) or computers algorithms (agents). Embodying avatars and interacting with agents, patients can experience sensory-rich simulations in the virtual world that may be difficult or even impossible to experience in the physical world but are sufficiently real to influence health attitudes and behaviors. Avatars and agents are infinitely customizable to tailor virtual experiences at the individual level, and IVEs are able to transcend the spatial and temporal boundaries of the physical world. Although still preliminary, a growing number of studies demonstrate IVEs’ potential as a health promotion and therapy tool, complementing and enhancing current treatment regimens. Attempts to incorporate IVEs into treatments and intervention programs have been made in a number of areas, including physical activity, nutrition, rehabilitation, exposure therapy, and autism spectrum disorders. Although further development and research is necessary, the increasing availability of consumer-grade IVE systems may allow clinicians and patients to consider IVE treatment as a routine part of their regimen in the near future.


2012 ◽  
Vol 5 (1) ◽  
pp. 35-67 ◽  
Author(s):  
Richard A. Stein

Genetics has fascinated societies since ancient times, and references to traits or behaviors that appear to be shared or different among related individuals have permeated legends, literature, and popular culture. Biomedical advances from the past century, and particularly the discovery of the DNA double helix, the increasing numbers of links that were established between mutations and medical conditions or phenotypes, and technological advances that facilitated the sequencing of the human genome, catalyzed the development of genetic testing. Genetic tests were initially performed in health care facilities, interpreted by health care providers, and included the availability of counseling. Recent years have seen an increased availability of genetic tests that are offered by companies directly to consumers, a phenomenon that became known as direct-to-consumer genetic testing. Tests offered in this setting range from the ones that are also provided in health care establishments to tests known as ‘recreational genomics,’ and consumers directly receive the test results. In addition, testing in this context often does not involve the availability of counseling and, when this is provided, it frequently occurs on-line or over the phone. As a field situated at the interface between biotechnology, biomedical research, and social sciences, direct-to-consumer genetic testing opens multiple challenges that can be appropriately addressed only by developing a complex, inter-disciplinary framework.


2018 ◽  
Vol 29 (1) ◽  
pp. 28-35 ◽  
Author(s):  
Christine Kessler

A new paradigm for disease diagnosis and treatment is emerging that will bring about changes in health care delivery in and out of the hospital setting. Over the past several decades, genomic medicine has been one of the fastest growing fields in acute and chronic health care. This quick growth has created a lag in genomics knowledge and preparation among nurses and health care providers. Genomic medicine may lead to more precise evaluation, diagnosis, and management of selected acute care conditions. This article reviews the current state of genetic and genomics science and looks at the expanding field of genomic medicine’s integration into precision medicine. The aim of this article is to raise awareness and spark further inquiry to the remarkable field of genomics and precision medicine.


2021 ◽  
Vol 42 (5) ◽  
pp. 395-399
Author(s):  
Mercedes E. Arroliga ◽  
Karim Dhanani ◽  
Alejandro C. Arroliga ◽  
Penny S. Huddleston ◽  
Jason Trahan ◽  
...  

Background: Adverse reactions, including anaphylaxis, to messenger RNA coronavirus disease 2019 (COVID-19) vaccines rarely occur. Because of the need to administer a timely second dose in subjects who reported a reaction to their first dose, a panel of health-care professionals developed a safe triage of the employees and health care providers (EHCP) at a large health-care system to consider administration of future dosing. Methods: There were 28,544 EHCPs who received their first dose of COVID-19 vaccines between December 15, 2020, and March 8, 2021. The EHCPs self-reported adverse reactions to a centralized COVID-19 command center (CCC). The CCC screened and collected information on the quality of reaction, symptoms, and timing of the onset of the reaction. Results: Of 1253 calls to the CCC, 113 were identified as requiring consideration by a panel of three (American Board of Allergy and Immunology) ABAI-certified allergists for future dosing or formal in-person assessment. Of the 113 EHCPs, 94 (83.2%) were recommended to get their second dose. Eighty of 94 received their second planned dose without a severe or immediate reaction. Of the 14 of 113 identified as needing further evaluation, 6 were evaluated by a physician and subsequently received their second dose without a serious adverse reaction. Eight of 14 did not receive their second dose. Only 5 of the 113 EHCPs reported reactions (4.4%) were recommended to not take the second dose: 3 (2.6%) because of symptoms consistent with anaphylaxis, and 2 because of neurologic complications (seizure, stroke). Conclusion: The panel demonstrated that, by consideration of reaction history alone, the ECHPs could be appropriately triaged to receive scheduled second dosing of COVID-19 vaccines without delays for in-person evaluation and allergy testing.


1996 ◽  
Vol 11 (5) ◽  
pp. 261-283 ◽  
Author(s):  
Mark M. Wilson ◽  
Frederick J. Curley

Gas emboli syndromes are known to occur in many different settings, and they may result in life-threatening emergencies. Venous gas embolization was discussed previously in Part I of this review. Gas emboli that gain access to the arterial circulation or that result from exposures to decreased ambient pressures in the environment are discussed in Part II. The prevalence of arterial gas emboli and decompression sickness are likely not as high as for venous gas emboli. Most cases are preventable, and prompt treatment is frequently effective. Once present, gas bubbles generally distribute themselves throughout the body based on the relative blood flow at the time, thus making the nervous system, heart, lung, and skin the primary organ systems involved. Both mechanical and biophysical effects lead to intravascular and extracellular alterations that result in tissue injury. The clinical manifestations of these disorders are varied, and a high index of suspicion in the appropriate settings will aid health care providers in prompt recognition of these problems and allow timely intervention with specific therapy. Management of arterial gas emboli and decompression sickness is similar, with a focus on hyberbaric chamber therapy and intermittent hyperoxygenation. Recompression schedules in current use have withstood the test of time. Research continues to refine our understanding of these diseases and to optimize the treatment regimens available.


2007 ◽  
Vol 12 (3) ◽  
pp. 196-202
Author(s):  
Jeanette M. Daly ◽  
Arthur J. Hartz

Unexplained chronic fatigue (UCF) is a poorly understood condition with little known about its etiology and treatment. A wide range of health care providers, including physicians, nurse practitioners, and complementary and alternative medical practitioners, offer services for persons with UCF. This study explored perspectives of family medicine physicians and licensed acupuncture clinicians with experience in treating patients with UCF, regarding their treatment regimens and perceived success at improving their patients' energy and coping with symptoms. A sample of 141 family medicine physicians and licensed acupuncturists was surveyed via a questionnaire; 48 returned the completed questionnaire. Clinicians reported treating from 3 to 375 patients with UCF. Family physicians provided more conventional methods, and licensed acupuncturists provided alternative treatments. The reported success of the licensed acupuncturists at improving energy and stamina and helping patients cope with fatigue was significantly higher than that of the family physicians. Implications for future research are discussed.


2020 ◽  
pp. 1298-1305
Author(s):  
Dong D. Lin ◽  
Trishala Meghal ◽  
Pooja Murthy ◽  
Lan Mo ◽  
Ashley D’Silva ◽  
...  

PURPOSE As a result of their immunocompromised status associated with disease and treatment, patients with cancer face a profound threat for higher rates of complications and mortality if they contract the coronavirus disease 2019 infection. Medical oncology communities have developed treatment modifications to balance the risk of contracting the virus with the benefit of improving cancer-related outcomes. METHODS We systemically examined our community cancer center database to display patterns of change and to unveil factors that have been considered with each decision. We studied a cohort of 282 patients receiving treatment and found that 159 patients (56.4%) had treatment modifications. RESULTS The incidence of treatment modification was observed in patients undergoing adjuvant and neoadjuvant (41.4%), palliative (62.9%), or injectable endocrine or bone-modulating only (76.0%) treatments. Modifications were applied to regimens with myelosuppressive (56.5%), immunosuppressive (69.2%), and immunomodulating (61.5%) potentials. These modifications also affected intravenous (54.9%) and subcutaneous injectable treatments (62.5%) more than oral treatments (15.8%). Treatment modifications in 112 patients (70.4%) were recommended by providers, and 47 (29.6%) were initiated by patients. The most common strategy of modification was to skip or postpone a scheduled treatment (49%). Among treatment with no modifications, treatment regimens were maintained in patients who tolerated treatment well (37.0%), in treatments with curative intent (22%), and in symptomatic patients who required treatment (14%). CONCLUSION Our observation and analysis suggested that the primary goal of treatment modification was to decrease potential exposure. The pattern also reflected the negative impact of the pandemic on health care providers who initiated these changes. Providers have to consider individualized recommendations incorporating multiple factors, such as tolerance, potential toxicity, treatment nature and route, and disease severity.


2020 ◽  
Vol 7 ◽  
pp. 205435812091265 ◽  
Author(s):  
Timothy Caulfield ◽  
Blake Murdoch ◽  
Ruth Sapir-Pichhadze ◽  
Paul Keown

There is increasing interest in the use of precision medicine tools and evidence-based outcome measures for donor-recipient matching to optimize transplant outcomes. Although the shift toward greater precision can provide health and resource benefits, it may be perceived as conflicting with both established equity-focused organ allocation norms and the legal and ethical obligations of health care providers and related institutions. With increasing evidence that various forms of human leukocyte antigen (HLA) mismatch and/or prognostic biomarkers can affect outcomes, the tension between maximizing utility and ensuring equity seems likely to intensify. In Canada, health care providers are generally required by law to put the interests of their patient, such as access to an organ, above the needs of the health care system and other patients. In addition, transplantation right of access lawsuits, which have been successful in the past, could affect the implementation of precision approaches. These legal tensions could be further heightened by media representations, which have historically favored strong rights of access. When implementing new precision technologies in organ allocation, there will be a recurrent need for policymakers to revisit the balance of equity and utility and to assess how to craft rules that reflect our society’s conception of a fair allocation system.


2019 ◽  
Vol 1 (1) ◽  
pp. 11-20
Author(s):  
Devi Trianingsih ◽  
Dessie Wanda ◽  
Fajar Tri Waluyanti

Children are one of the most vulnerable populations to the spread of tuberculosis (TB) ger, however, unfortunately the success of TB treatment in DKI Jakarta is still quite low. This study aimed to determine the factors that most influence TB child treatment adherence. The method used was descriptive analysis with cross sectional approach. The sample was determined using techniques Consecutive Sampling: Non Probability Sampling  which numbered 168 people. This study illustrated that belief variable  was the most influencing factors of TB treatment adherence in children (p value 0,001; α=0.05; OR 8,02 after controlled by long-term treatment of TB, PMO, cognitive developments stages, coping behaviour, memory, treatment regimens, communication with health care providers, social support and access to health facilities.  This study expected to be source of knowledge for nurses to provide client’s belief  and improve adherence to TB treatment in children.


2018 ◽  
pp. 25-49 ◽  
Author(s):  
Ritu Priya

The chapter reconstructs a narrative of health services development in post-Independence India by examining relationships of the state, community, and Primary Health Care approach through existing literature. It combines materialist explanations with analyses of bureaucratic power and cultural hegemony to explain the maldistribution of health care. It argues that a critical analysis of the bio-politics and political economy of health care over the past century must consider five ‘missing links’ in the dominant discourse of HSD policy, that is, the unaffordability of the Euro-American institutional model of over-medicalized health care; the validity of plurality of knowledge; the dominant culture and ethics of health care providers; the prevalent physical, social and cultural iatrogenesis; and complexity of ‘the community’.


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