China
Africa
Explore chapters and articles related to this topic
Brain Health
Published in Carolyn Torkelson, Catherine Marienau, Beyond Menopause, 2023
Carolyn Torkelson, Catherine Marienau
Genomics is the study of a person’s complete set of genes, including how those genes interact with each other and with the person’s environment. Each of us has about 25,000 different genes made up of approximately 3 billion DNA units. Subtle variations in DNA are what not only make us look different from one another but also create subtle health differences. The knowledge of health risks and benefits gained by understanding your genomic profile may provide a foundation for planning a personalized approach to lifestyle modification. If you are interested in learning about your genomic profile, we encourage you to have a discussion with your functional medicine practitioner. If you decide that this approach may be beneficial, your practitioner can order genomic testing, which can provide direction on how to improve your quality of life, no matter your age.
Genomic technologies
Published in Wendy A. Rogers, Jackie Leach Scully, Stacy M. Carter, Vikki A. Entwistle, Catherine Mills, The Routledge Handbook of Feminist Bioethics, 2022
Genomic testing is also being utilized to verify whether someone is a carrier of certain genomic mutations implicated in diseases that they could pass onto their children (Chen et al. 2020). Carriers have inherited one normal and one abnormal allele for a gene associated with a disorder and they are asymptomatic for the disease in question. They are, however, at risk of passing the mutation to their children. For most of these conditions, a child must inherit two abnormal alleles in order for symptoms to appear. Examples include cystic fibrosis, sickle cell disease and spinal muscular atrophy. Carrier testing can also be used for X-linked disorders, such as hemophilia. These disorders are caused by mutations in genes on the X chromosome. In males, who usually have only one X chromosome, one altered copy of the allele is sufficient to cause the condition. Carrier testing is often used in the context of reproductive decision-making and is beginning to be considered for population-wide screening (Punj et al. 2018).
Surgical treatment of disorders of sexual development
Published in Mark Davenport, James D. Geiger, Nigel J. Hall, Steven S. Rothenberg, Operative Pediatric Surgery, 2020
Rafael V. Pieretti, Patricia K. Donahoe
The diagnostic evaluation of patients with penile agenesis includes a renal ultrasound (US), pelvic MRI, retrograde urethrogram, and, in cases associated with an imperforate anus, a distal colonogram through the mucous fistula, using hydrosoluble contrast material (Figure 80.23). The colonogram can be combined with an antegrade VCUG via the cutaneous vesicostomy. An experienced medical team must evaluate newborns with penile agenesis. Families must be given all available information regarding sex assignment, surgical procedures, and immediate and long-term results so that they can make a decision which is in the best interest of their child. Genetic evaluation with whole genomic sequencing is recommended for genetic counseling and for understanding etiology.
Is It Just for a Screening Program to Give People All the Information They Want?
Published in The American Journal of Bioethics, 2023
Lisa Dive, Isabella Holmes, Ainsley J. Newson
However, several ethical considerations need to be addressed before offering people genomic information beyond the scope of a population genomic screening program like RGCS. Given the complexity and inherent uncertainty of genomic information (Newson et al. 2016), consideration must be given to the utility of the information provided. One approach to categorizing conceptions of utility is to distinguish between clinical utility and personal utility. Clinical utility is the measure of risks and benefits specific to health outcomes as a result of using a test. When evaluating clinical utility professionals will take into account the analytic validity of a test—how accurately genetic characteristics are picked up—as well as the clinical validity of the test—how accurately a test identifies a health condition from these genetic characteristics (Burke 2014). Personal utility refers to the evaluation of risks and benefits not specific to health outcomes. For example, this kind of utility measures less clinically tangible benefits like increased choice or control over health or gaining self-knowledge which helps aid decision-making (Kohler, Turbitt, and Biesecker 2017).
Ethical, Legal, and Social Implications of Genomics Research: Implications for Building a More Racially Diverse Bioethics Workforce
Published in The American Journal of Bioethics, 2023
Recent national calls for ethical, legal, and social implications (ELSI) research to “assess and address how ethical, historical, social, economic, legal, regulatory, socio-cultural, and contextual factors surrounding genomics serve as barriers or facilitators to the uptake of genomic science in mistreated, underrepresented, and underserved communities” (Department of Health and Human Services, 2023) have particular salience for research communities in the Deep South. Certain individuals and groups, including those in the Deep South region of the United States, are especially vulnerable to poor health outcomes due to overlapping social, economic, structural, and environmental factors that also influence access to and perceptions of research environments. Promoting the ethical inclusion of these groups in genomic discovery and translation requires specific attention to a myriad of genetics-related issues, including privacy and fairness in the use of genetic information, informed and broad consent, and return of results to participants. Thus, developing, implementing, and translating ethically sound genomics research policies and procedures requires concrete and tailored strategies to promote equitable access to genomic discovery and translation.
Premature ovarian insufficiency – the need for a genomic map
Published in Climacteric, 2021
Genetics considers diseases caused by single genes and their individual function on physiology and pathology. Genomics encompasses the study and understanding of all genes in a person, for example how these genes interact with each other, and also considers non-coding DNA and is particularly useful for diseases with complex etiologies. Genomic technologies are now at the forefront of innovative medicine and no longer just a phenomenon within the research setting. Genomics medicine is now firmly placed in the clinical arena and is very likely to have implications on the care of our future patients. The completion of the Human Genome Project in 2003 was pivotal, allowing us to enter the genomic era [21]. Furthermore, the exponential decline in the cost of sequencing and the exponential rise in the speed of sequencing make it a financially realistic tool in clinical medicine; a whole genome can now be sequenced in 1 day at a cost of around £1000. Large-scale, cheap sequencing can now be performed, and this was one of the driving forces behind many projects such as the 100,000 Genome Project in England [22]. As a result of the success of this project, the National Health Service (NHS) Genomics Medicine Service was launched in England in 2018. POI was included in the 100,000 Genome Project and remains in the UK’s NHS Genomics Medicine Service test directory.