Editorial, J Genet Disor Genet Rep Vol: 10 Issue: 7
Lymphoblastic Cell Lines
* Department of Oncology, United Kingdom Metropolitan Geriatric Medical Center, U
*Corresponding author: Jobia A, Department of Oncology, United Kingdom, Metropolitan Geriatric Medical Center, UK; E-mail: [email protected]
Received date: July 04, 2021; Accepted date: July 17, 2021; Published date: July 28
Keywords: CFTR, NIGMS, NIST
The first disease-specific genetic test was developed for Cystic Fibrosis, a debilitating condition that affects approximately 30,000 children and adults in the United States, and 70,000 worldwide . A mutation in the CFTR gene that is strongly correlated with Cystic Fibrosis was discovered by teams at the University of Michigan, Johns Hopkins University and the Hospital for Sick Children in Montreal. The discovery was patented, but each of the institutions holding patent rights elected to license its rights on a non-exclusive basis .As a result, sixty-three different labs in the United States performed testing for CFTR mutations at relatively affordable prices. A genome consists of all of the DNA contained during a cell's nucleus. DNA consists of 4 chemical building blocks or "bases" with the biological information encoded within DNA determined by the order of these bases. Diploid organisms, like humans and every one other mammals, contain duplicate copies of just about all of their DNA (i.e., pairs of chromosomes; with one chromosome of every pair inherited from each parent).
The size of an organism's genome is usually considered to be the entire number of bases in one representative copy of its nuclear DNA. In the case of diploid organisms , that corresponds to the sum of the sizes of one copy of each chromosome pair The deCODEme project is able to draw on several sorts of assets, especially large-scale efforts over several years to get the genetic factors involved in common diseases and extensive genomic anthropological work on human populations and their migrations, ancestry, and mixing. All of this has been important for developing the analyses and interactive frameworks offered. The Genome during a Bottle Consortium has selected several genomes from cell lines available through the NIGMS Human Genetic Cell Repository to supply and characterize as reference materials. The National Institute of Standards and Technology (NIST) has developed NIST Reference Materials from these genomes, which are DNA extracted from an outsized homogenized growth of B lymphoblastoid cell lines from the Repository. Whilst participants have full autonomy over their decision making when they embark solo on a genomic testing journey, one observation is that the absence of a linked health professional does make it seem rather a lonely experience. Whilst it might be imprudent to suggest that a paternalistic and directive health care provider is important (one might suggest, such a health care provider should be avoided in the least costs), however, simply having the chance to share the experience may need helped Dr Corpas feel slightly less overwhelmed with the task of communicating the genomic information to his family. What is most striking is that he had not anticipated how important it had been to urge the communication together with his family right, nor how he would actually do that . He was left to his own devices to work this out for himself. As a genetic counselor myself I felt a real sadness about this. There is a wealth of evidencebased literature on the communication processes about genetics The best defense against eugenics is an educated public that knows how to ask for and obtain full and accurate information from health care providers which doesn't hesitate to question the goals of testing and counselling. To this end, general science courses could include lessons on the history and outcome of past eugenic programs and also material on the fulfilling lives of the many people with disabilities. Health care professionals may benefit from similar education. One way that professionals can learn more about the meaning of life with a disability is to figure closely with patient and parent organizations. Improvement of services for persons with genetic disabilities should be pursued as a goal along side increased availability of counselling and prenatal choices.
Advances in genome sequencing along side the introduction of personalized medicine offer promising new avenues for research and precision treatment, particularly within the field of oncology. At an equivalent time, the convergence of genomics, bioinformatics, and therefore the collection of human tissues and patient data creates novel moral duties for researchers. After all, unprecedented amounts of probably sensitive information are being generated. Over time, traditional research ethics principles aimed toward protecting individual participants became supplemented with social obligations associated with the interests of society and therefore the research enterprise at large, illustrating that genomic medicine is additionally a social endeavor. In this review we offer a comprehensive assembly of ethical duties that are attributed to genomics researchers and offer suggestions for responsible advancement of personalized genomic cancer care. Gene tests study DNA sequences to spot variations (mutations) in genes which will cause or increase the danger of a genetic disease . Gene tests can be narrow orlarge in scope, analyzing an individual DNA building block (nucleotide), one or moregenes, or all of a person’s DNA. Genetic testing may be a sort of medical test that identifies changes in genes, chromosomes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder