Ethical consequences of full human genome testing

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Abstract

A Genome is the entire set of hereditary instructions for building, running, maintaining an organism and passing on life to the next generation. A Genome is divided into chromosomes, the chromosomes contain genes and the genes are made of DNA. Genomes are found in cells; which are the microscopic structures that make up all organisms. With few exceptions, each of your body’s trillions of cells contains a copy of your genome. The human genome may be commonplace but it is quite powerful, because the information in the genome affects every aspect of a person’s behaviour and physiology. The refinement and perfection of the techniques involved has resulted in the reduction of the cost of sequencing to the current price of USD $1,000 and less. This means that the technology is now routinely available, and it is predicted that in another 5 years’ time the tests will cost in the vicinity of USD $100, placing them on par with the current cost of an X-Ray or a biopsy, and truly within the ambit of an everyday diagnostic tool. The advantages of accurate diagnosis and treatment will be affected by a host of ethical problems. The most pertinent of these are: Incidental findings, confidentiality, responsibility. Incidental genetics findings are unexpected results which are unrelated to the reason for the test. However, if they unearth a gene variant that may cause a serious disease then nondisclosure is hard to justify. If a whole genome sequence reveals a number of clinically actionable variants should this information be passed on to third parties who might also be affected? Alternatively, what happens if the patient insists that the information be kept confidential? Whole genome sequencing will also impact on the concept of responsibility for health. Should such sequencing be used by prospective parents to determine the odds of them transmitting problematic gene variants to their children? If the parents are found to be at risk should they be allowed to resort to pre-implantation genetic diagnosis of their embryos in order to select only healthy embryos for implanting? These and other ethically relevant issues flowing from whole genome sequencing will be discussed in this paper.
Original languageEnglish
Pages (from-to)84-102
Number of pages18
JournalUS-China Law Review
Volume14
Issue number2
DOIs
Publication statusPublished - Feb 2017

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