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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).
The application of new technologies to improve literacy among the general public and to promote informed decisions in genomics
Published in Ulrik Kihlbom, Mats G. Hansson, Silke Schicktanz, Ethical, Social and Psychological Impacts of Genomic Risk Communication, 2020
Serena Oliveri, Renato Mainetti, Ilaria Cutica, Alessandra Gorini, Gabriella Pravettoni
Unfortunately, considering the increasing complexity of genetic data, reaching this objective is not so easy. The promise of personalized medicine is that it will generate personalized therapies, but it will also generate hard-to-understand personalized risk and benefit information. In particular, there are three main critical concepts that make genetics so complex. The first is called ‘pleiotropy’ and indicates that each gene contributes to many different traits. The second refers to the fact that each trait is usually the result of the expression of different genes, while the third refers to the evidence that the effect of each genetic variant is related to the characteristics of the environment in which it manifests itself. The situation is further complicated by the fact that there are three different forms of genetic testing: diagnostic, carrier and predictive testing. Diagnostic testing involves identifying current disease states and includes prenatal and new-born screening. Carrier testing determines if an individual carries a certain genetic trait. Finally, predictive testing is used to determine whether a person, who is usually healthy and maybe with a positive family history for a certain disease, has a genetic mutation that will lead to a late-onset disorder.
Branching out: Specialties and subspecialties in medical genetics
Published in Peter S. Harper, The Evolution of Medical Genetics, 2019
Haemophilia services in the UK have had a long tradition of forming self-contained regionally based centres for management and therapy, something that has undoubtedly raised standards. In terms of carrier testing and genetic counselling, the degree of involvement with wider medical genetics has been variable; in my own experience these links have been mutually beneficial and have helped to ensure that extended family members are appropriately counselled and tested. Before accurate molecular testing was possible, X chromosome inactivation caused problems comparable to those encountered with other X-linked disorders, and haemophilia centres were among the first to use the Bayesian approaches to risk estimation pioneered by medical geneticists for Duchenne muscular dystrophy.
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
In this paper, we use reproductive genetic carrier screening (RGCS) as a case in point to consider the issues arising from reporting and communicating results beyond the program’s stated goal. While we acknowledge that screening for reproductive purposes has specific features that might not translate to all types of genetic screening, the consideration of a population health approach to RGCS may yield relevant insights. RGCS is a form of genomic screening offered with the goal of providing individuals or couples with information to inform their reproductive decision-making. Specifically, RGCS provides information about the chance of having children with certain serious genetic conditions (Rowe and Wright 2020). RGCS usually comprises screening for tens, even hundreds of conditions, depending on the mode of offer (individual testing or simultaneous/couples-based). It is distinguished from carrier testing, which is offered to those with a known family history of particular genetic conditions. Information obtained from RGCS can inform future reproductive decisions, including whether to use prenatal or preimplantation genetic testing.
Implementing Expanded Prenatal Genetic Testing: Should Parents Have Access to Any and All Fetal Genetic Information?
Published in The American Journal of Bioethics, 2022
Michelle J. Bayefsky, Benjamin E. Berkman
In addition to reproductive autonomy, the other major reason to permit access to expansive fetal genetic information is out of respect for parental rights over their children. Parents are typically afforded great latitude in the kinds of decisions they can make on behalf of their children, including medical decisions. Parents may argue that it would be a violation of their parental rights to limit access to ePGT. However, parental rights are not boundless, and when challenged, a best interest standard is often applied (Bayefsky 2018). In the context of pediatric genetic testing, the previously-mentioned AAP/ACMG statement concludes that decisions about whether to offer genetic testing for a child should be driven by the best interest of the child. Specifically, the organizations do not support routine carrier testing in minors, they generally do not support testing for adult-onset conditions, they discourage the use of direct-to-consumer genetic testing kits, and they only recommend predictive genetic testing for asymptomatic children if they are at particular risk of a childhood-onset disorder (Committee on Bioethics et al. 2013). While the AAP/ACMG guideline is not binding for clinicians, it offers clear recommendations with a coherent ethical basis: the best interest of the child. The ASHG guidance document cited above also acknowledges that the importance of the child’s best interest, and notes that “psychosocial dynamics” within the family can also play a role in determining the child’s best interest (Botkin et al. 2015).
Comprehensive care for haemophilia: A literature review for improving institutional cooperation
Published in International Journal of Healthcare Management, 2021
Sonia Brondi, Laura Palareti, Greta Mazzetti
Focus on the first assumption of CC. This group includes six scientific contributions especially interested in the first assumption underlying the notion of CC, that is, the importance of jointly promoting physical and psychosocial health. In this group, the gender viewpoint again comes to the forefront. Kouides [14] and Yang and Ragni [15] discuss how testing and care provision in HCCCs may empower women with bleeding disorders to seek medical care and improve their quality of care. Tedgård [16] and Miller [17] underline how genetic counselling, carrier testing and prenatal diagnosis of haemophilia, as well as their psychological consequences, represent a main dimension of CC, since they could enable conscious personal decisions concerning marriage and childbearing. Furthermore, Elander and Barry [18] address the topic of pain and its management in haemophilia. Lastly, Wodrich et al. [19, p. 593], who state that ‘comprehensive care of boys with haemophilia must include awareness of his psychosocial and physical health status’, investigate the hypothesis that boys with extreme levels of attention deficit hyperactivity disorder (ADHD) symptoms are over-represented among boys with haemophilia.