The helms of very large ships are steered by very small helms. In vitro diagnostics, for example, account for just about 2.3 percent of healthcare spending in the United States but have a huge effect on clinical decision-making. Since diagnostics have such a significant effect on patient wellbeing, those in charge of clinical genetic and genomic testing must work hard to improve efficiency. Clinical genetic and genomic testing laboratories in the United States provide diagnostic, predictive, prognostic, and theragnostic tests with a presumed clinical importance that is often detached from fact. This suggests that when well-intentioned physicians use low-value and unreliable tests in health care, many patients are affected unintentionally. While most genetic/genomic test errors and anomalies go unnoticed at the moment, reported head-to-head comparative studies between labs often show poor concordance, meaning that the industry is plagued by fundamental technical issues. When samples from 63 people with interesting genetic variants in only two cardiac genes were tested at three separate approved laboratories, researchers at Vanderbilt found only a 10% concordance in variant detection/classification in 2016. The terms "genetics" and "genomics" are not interchangeable, despite the fact that they are often used interchangeably. Both are derived from the Greek word gen, which means birth or origin, and both concern the study of genetic material. But that's where the similarities end. Despite the fact that genetics and genomics are both complex subjects, there is a major distinction between them: The first (genetics) is concerned with a person's genetic make-up. Despite the fact that genetics and genomics are both complex subjects, there is a major distinction between them: The first (genetics) refers to a person's genetic makeup, while the second (genomics) refers to a tumor's molecular structure. You may also think about genetics and genomics in terms of inherited genes and cancer-specific mutations. Your oncologist may prescribe treatment based on the results of genetic and genomic testing, such as preventive surgery in the case of genetic testing or a particular form of drug therapy in the case of genomic testing. Because most cancers develop not because of an inherited gene but because of mutations that occur throughout patients’ lifetimes, researchers are hopeful that continued advances in genomic testing will help them better target specific tumour mutations and tailor treatments to each individual.

Media Contact:

Allison Grey

Journal Manager

Journal of Clinical chemistry and Laboratory Medicine

Email: clinchem@longdomjournal.org

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Media Contact:

Allison Grey

Journal Manager

Journal of Clinical chemistry and Laboratory Medicine

Email: clinchem@longdomjournal.org