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Knowledge is power
Published in Brendan Curran, A Terrible Beauty is Born, 2020
One particularly informative example of the use of a genetic screen before the event is that for Tay Sachs disease among Ashkenazi Jews. Tay Sachs is a disease characterised by very early onset, progressive retardation in development, paralysis, dementia and death by the time the child is 3 or 4 years old; it is quite awful and to be avoided if at all possible. It is found in a French-Canadian isolate in Quebec, but is best known for a traditionally high incidence (1 in 3,600 infants) among Eastern European Jews amongst whom the carrier frequency is 1 in 20 to 1 in 30 (it is thought that the mutation occurred in Poland some 500 years ago). Among the Ashkenazim, some religiously ultra-orthodox communities practice arranged marriages, so all their children are scanned for Tay Sachs well before they might marry and the results are kept in a confidential register. When the matchmaker gets to work on a prospect, she (matchmakers are usually women) consults the register: if there is any risk of Tay Sachs, that partnership will not be pursued.
Approaches to Studying Polycystic Kidney Disease in Zebrafish
Published in Jinghua Hu, Yong Yu, Polycystic Kidney Disease, 2019
Genetic screen is one of the most powerful tools to identify genes involved in certain biological process or diseases and is one of the most significant advantages for zebrafish as a vertebrate model. Traditional genetic screens in zebrafish use chemicals or retrovirus-introduced insertions or transposon-mediated gene trap as mutagens and take three generations to establish mutant lines.15–18 Several rounds of large-scale genetic screens have been carried out and have identified hundreds of phenotypic mutants. For PKD studies, two large-scale genetic screens, using N-ethyl-N-nitrosourea (ENU) and retrovirus-introduced insertions as mutagens, respectively, have identified multiple PKD models14,19 and established a genome-wide association between cilia and PKD.19
Overview
Published in Christopher Riley, Morton Warner, Carolyn Semple Piggot, Amanda Pullen, John Wyn Owen, Releasing Resources to Achieve Health Gain, 2018
Here, the old paradigm represents intervention for chronic disease management only once symptoms have emerged. In the future, a ‘predict and manage’ approach which is triggered by a genetic screen and followed by further testing and regulation prior to the symptom stage, will be the dominant paradigm.
A Paradigm of Investigator Duty to Multiple Stakeholder Participants
Published in The American Journal of Bioethics, 2023
Kimberly Foss, Gail E. Henderson, Kriste Kuczynski, Megan Clarke Roberts
The UNC Program for Precision Medicine in Healthcare is currently offering a clinical population genetic screen to adult patients within the UNC Health System. Over the course of our interactions with patients, we routinely collect information intended for program evaluation and quality improvement. In parallel with this clinical offering, we are conducting additional implementation research about the program to better understand stakeholder (including the patient) perspectives about the program, which will inform the development and evaluation of implementation strategies to improve program processes and outcomes. Importantly, we have drawn clear lines between clinical care and research efforts within our project, to reduce perceived bias and conflicts of interest between the clinician and researcher roles. Clinicians who are involved in enrollment, test ordering, and disclosure of screening results are separate from the researchers who collect data on its implementation for research purposes. Clinical information on screening results is communicated to patients and documented in the electronic medical record (EMR) for the patients and their clinical providers. Data gleaned for the purposes of program evaluation and quality improvement are reviewed by the clinical team and shared in aggregate form with the researchers. In addition, data generated during the course of clinical care are also structured in a way that can make them accessible to researchers for consenting research participants in the future.
Reproductive Healthcare Access and Genetic Testing Decision-Making Among Women With Increased Likelihood of Having a Child With Autism
Published in Women's Reproductive Health, 2023
Andrea L. DeMaria, Chandler Dykstra, Hannah King, Riley Felicicchia, Bridgette L. Kelleher, Carolyn E. B. McCormick
During discussions of pregnancy and motherhood, participants were prompted to share about pre- and postnatal genetic testing experiences. Many women recalled not being offered genetic testing during their pregnancy, as one participant stated: “No. I feel like they didn’t.” Similarly, one woman shared, “Um, I don’t think really any that I can remember,” while another expressed, “There was no information about genetic testing when I was pregnant the first time.” In sharp contrast, other participants voiced having been offered prenatal genetic testing. Emphasizing the disparity between those offered and not, one woman explained, “It’s like something that everybody does…It’s like a simple blood draw. Like they do it like at 12 or 15 weeks.” Another woman recalled, “I can’t remember exactly what they were offering, but I know there was definitely an option.” Participant experiences highlighted differing testing opportunities, including receiving little to no information at all. Regarding this, one participant stated, “They really basically didn’t offer much information about it. And they didn’t offer any information about the other genetic screens that [were] just starting to get popular at the time.” Participant responses varied from receiving detailed explanations to getting vague descriptions of prenatal genetic testing. Thus, the opportunity to receive genetic testing and the degree to which a participant was informed of their options greatly differed.
CRISPRing future medicines
Published in Expert Opinion on Drug Discovery, 2021
Laure Grand Moursel, Mijke Visser, Geraldine Servant, Selvi Durmus, Anne-Marie Zuurmond
Generally, designing genetic screens, and as such choosing the appropriate screening format, requires in-depth (molecular) biological knowledge, and necessitates detailed knowledge of sequencing technology, biostatistics, and high-throughput data analysis and this is no different for CRISPR-based screens. Furthermore, numerous technical aspects play a role, such as properties of the cellular model, the availability of equipment, and the timeframe of the experiment. For library design, one can choose to make use of available genome-wide libraries or design custom libraries dedicated to the desired phenotype of interest. Computational tools are available to support gRNA design with high on-target effects and minimal predicted off-target effects [41,42]. Subsequent data analysis depends on the initial choice of screening format, however, while experimental workflows may vary, the next step is to build confidence in the identified targets for a therapeutic approach.