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Genetic Counseling
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Zoltán Papp, Valéria Váradi, Júlia Hajdú
The completion of the Human Genome Project was a phenomenal accomplishment, providing researchers with the reference sequence of the human genome, which has subsequently led to the identification of many genes associated with human disease. Development of new technologies has made it possible to study these genes, search for disease-causing mutations, and develop genetic tests (25). Genetic testing has the potential to offer dramatic benefits, both clinically and psychologically, for patients and their families. The array of benefits begins with the clarification of diagnosis and prognosis, which assists in decision-making about clinical care. Testing for familial mutations makes available predictive, carrier, and prenatal testing, all of which provide risk assessment for family members of an affected patient to assist them in making complex personal, medical, and reproductive decisions. In addition, there are a multitude of genetic tests available to those with no family history of genetic disease that can provide information about potential reproductive or future health risks.
The Evolution of Anticancer Therapies
Published in David E. Thurston, Ilona Pysz, Chemistry and Pharmacology of Anticancer Drugs, 2021
Even before the structure of DNA was elucidated in the 1950s, it was known that genetic information resides in the chromosomes and that some human diseases can be passed on through the generations. After the structure of DNA was established, interest in finding sequences of DNA that may relate to specific diseases became intense. This led to the Human Genome Project, an international scientific research project with the goal of determining the sequence of nucleotide base pairs that make up human DNA, and of mapping and identifying all of the genes of the human genome from both a functional and physical standpoint. The HGP began in 1990 and was declared complete on 14 April 2003 and remains the world’s largest collaborative biological project. Initially, funding was provided by the US government through the National Institutes of Health (NIH) as well as numerous other groups from around the world. However, a parallel project was conducted in the commercial sector by Celera Genomics which was launched in 1998. Most of the government-sponsored sequencing was performed in 20 universities across the world in countries including the US, UK, Japan, Germany, France, and China. The HGP had an official logo represented by the Vitruvian Man sketch drawn by Leonardo da Vinci (Figure 2.4).
Discovering Genes That Cause Disease
Published in Kenneth L. Brigham, Gene Therapy for Diseases of the Lung, 2020
A revolution in gene discovery is currently underway. The Human Genome Project, initiated in 1990, aims to determine the complete sequence of the human genome, including the estimated 100,000 genes, by the year 2005. Progress has been gratifying, and the Project is currently running ahead of schedule and under budget (1). Approximately half of these gene sequences will reveal homologies that suggest their function. But how does one determine that hereditary susceptibility to a particular disorder is due to alterations in a particular one of these 100,000 genes? This needle-in-a-haystack problem presents a major challenge for genetic medicine but is being increasingly successfully addressed by a process called “positional cloning,” which is the topic of this chapter.
How Ethics Can Better Anticipate the Consequences of Emerging Biotechnologies
Published in The American Journal of Bioethics, 2022
Christopher Thomas Scott, Dorit Barlevy
However, bioethics is not always speculative. The Ethics, Law, and Social Implications (ELSI) program of the Human Genome Project, established in 1990, was implicitly forward-looking in its focus on the societal impact of genetic technologies, a form of bioethics that is both practical and anticipatory. In the 1960s and 1970s, prominent scientists and ethicists including Joshua Lederberg, Paul Ramsey, Joseph Fletcher and others presaged the concerns for children born of cloning. It was much later, in 1997, when Dolly the sheep gamboled upon the scene (Orentlicher 1999). In 1982, the President’s Commission on Bioethics debated altering the human germline decades before CRISPR/Cas9 was discovered (President’s Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research 1982). Indeed, various forms of anticipation can operate locally, such as the ethics consultation services described by Harvey and Salter as “anticipatory governance” but probably more properly termed “embedded ethics” (Harvey and Salter 2012).
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.
An optometrist’s guide to the top candidate inherited retinal diseases for gene therapy
Published in Clinical and Experimental Optometry, 2021
Fleur O’Hare, Thomas L Edwards, Monica L Hu, Doron G Hickey, Alexis C Zhang, Jiang-Hui Wang, Zhengyang Liu, Lauren N Ayton
Significant progress has occurred in the management of patients with IRDs heralded by rapid advances in tools to detect, classify and diagnose retinal pathology, coupled with vast improvements in genetic testing techniques. Progress in molecular analysis has afforded drastic reductions in the time and costs associated with obtaining results. For example, the decade-long (1993–2003) Human Genome Project sequenced the entire human genome for over a billion dollars, compared with current sequencing techniques that provide results within weeks for around a thousand dollars.14 These advancements have laid the foundations for a new era of personalised medicine that promises novel treatments for IRDs, most notably the successful uses of gene therapy for retinal disease, including gene augmentation and editing technologies that genetically modify diseased retinal cells in vivo.