The Economics of Genomic Medicine Workshop Summary (2013) / Chapter Skim
Currently Skimming:
2 Genomics, Population Health, and Technology
2 Genomics, Population Health, and Technology
Pages 9-14
The Chapter Skim interface presents what we've algorithmically identified as the most significant single chunk of text within every page in the chapter.
Select key terms on the right to highlight them within pages of the chapter.
From page 9... ...
• For healthy people, genomic data are unlikely to have much effect on assessing the risk of common diseases. • Nevertheless, genomic screening could be used to find the rela tively rare individuals in a population who are at high risk of preventable disease, preemptively identify genetic variants that influence the effects of drugs, provide additional information for screening of newborns, and inform a variety of reproduc tive decisions.
|
From page 10... ...
Because of its limited utility, genomic testing has not been widely adopted despite falling costs, said Evans. "I don't mean to say that this isn't marvelous technology, but we need to think about its utility to people before we rush to the conclusion that it is going to be, or should be, immediately embraced by everyone." THE LONG-TERM AND MID-TERM PROMISES OF GENOMICS Genetics will eventually shed light on the underpinnings of virtually every human disease, said Evans, because virtually every disease has a genetic component.
|
From page 11... ...
Despite the gap between medical science and medical practice, Evans noted, a current application of whole genome sequencing is proving to be exceedingly valuable. For people who have a disorder with a genetic etiology, genomic diagnostics can provide tangible benefits by giving people information about their conditions that can be used to guide treatment or prevention measures.
|
From page 12... ...
It doesn't do anyone much good to tweak our estimation of an individual's relative risk for common diseases which we are all at high absolute risk of developing anyway." A possible application of genetic testing in healthy people is finding the relatively rare individuals in a population who are at high risk of preventable diseases -- what another workshop participant called "newborn screening of adults." Risk assessment will always be most valuable when the identified risks are high. For example, about 0.2 percent of the population carries deleterious mutations that cause Lynch syndrome (Hampel et al., 2008)
|
From page 13... ...
For example, elevated phenylalanine has much more clinical utility than a variant of uncertain significance in the phenylalanine hydroxylase gene. But genomic screening could help resolve ambiguous biochemical results and detect a subset of treatable disorders that do not have good metabolic markers, such as storage diseases, deafness, and neonatal diabetes.
|
From page 14... ...
In the United States, the Genetic Information Nondiscrimination Act of 2008 protects against discrimination in medical insurance and in the workplace, but no such protections exist for long-term care insurance, disability insurance, or life insurance. Widespread genetic testing poses the threat of allelism -- that people will be defined by their genetic sequences and by the traits those sequences produce rather than by the qualities that truly matter in a person.
|
Key Terms
This material may be derived from roughly machine-read images, and so is provided only to facilitate research.
More
information on Chapter Skim is available.