![]() “These tests are funded through the government and freely available to patients on the National Health Service,” Brown says. The choice depends on the best tool for a specific disease. For example, patients with rare diseases or cancer receive WGS or a test with a specific panel of genes. has been a world leader in both the development of applications in clinical sequencing and the implementation of those,” says Matt Brown, chief scientific officer at Genomics England. Current programs in some countries, however, provide models that could be applied more broadly. The available technology for clinical sequencing offers a broad spectrum of applications in healthcare, but implementation remains a challenge. From this work, the scientists noted: “Of the genetic diagnoses that we made, 25% had immediate ramifications for clinical decision making for the patients or their relatives.” 7 These studies provide just a few of many examples of the benefits of clinical sequencing, and many more surely lie ahead. Access to first-line WGS may reduce health care disparities by enabling diagnostic equity.” 6 In addition, scientists in the U.K.-based 100,000 Genomes Project sequenced 71,880 rare-disease patients and their immediate relatives to learn more about the genomic basis of a range of rare diseases. The team showed that the “introduction of WGS was associated with a significant increase in focused clinical management compared with usual care. ![]() ![]() One team of scientists in the United States studied the use of whole-genome sequencing (WGS) to test 354 acutely ill infants. Still, some studies already reveal the value of applying clinical sequencing in healthcare. In another study, Phillips and a team of colleagues pointed out that “not all NGS tests with demonstrated clinical utility are fully implemented to achieve population health benefit, and conversely, tests without known clinical utility may still be implemented.” 5 According to Kathryn Phillips, PhD, professor of health economics and health services research at the University of California, San Francisco, and her colleagues, clinical applications of NGS exist in “both high-income countries with robust genomic programes such as the USA and the U.K., and growing availability in countries with upper-middle-income economies.” 4 Nonetheless, the clinical use of NGS still needs fine tuning. In fact, the use of next-generation sequencing (NGS) can now be found in clinical use around the world. In 2019, leading scientists from several major national genomics programs reported: “Five years ago, genomic sequencing was restricted to the research environment.” 3 As they added, this technique “is increasingly used in clinical practice.” 2 Still, clinical sequencing-using genetic variants to identify or treat diseases-faces crucial obstacles to becoming widely available. 1 That success spurred a crucial question: When will this information improve healthcare? Just this year, scientists completed the sequencing of the entire human genome. Nearly 20 years ago, The Human Genome Project announced the sequencing of about 90% of the human genome. ![]()
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