The Value of Genetic and Genomic Technologies Workshop Summary (2010) / Chapter Skim
Currently Skimming:
Appendix E: Genomic Profiling Topic Brief
Appendix E: Genomic Profiling Topic Brief
Pages 83-92
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 83... ...
There may be other relevant conditions in the family history, but no physician has ever asked Anne about them. Anne has read articles in the New York Times and elsewhere about the availability of genomic screening for health risk assessment.
|
From page 84... ...
On the other hand, her future risk of coronary artery disease is 20 percent above the general population risk. It is unclear from the report if the risks have taken her family or personal histories into account or if the risks were calculated exclusively based on the genomic results.
|
From page 85... ...
As an example of an association at the level of observable physical characteristics, it is well established that the incidence of prostate cancer varies by ethnic/racial group, with Asians at low risk and African Americans at particularly high risk. Given the fact that protein and physical variations have a basis in variations at the DNA level, it is not surprising that the principles of association extend to the genomic level.
|
From page 86... ...
Most SNPs are "silent" and have absolutely no effect on protein structure or observable physical characteristics. The description of the human genome has provided a greatly magnified view of human genetic variation and offered a widely expanded opportunity to look for associations of these genomic variants with common diseases.
|
From page 87... ...
Inventing some results to continue our example, we might find that "TT" individuals have 0.9 percent risk, "CT" individuals have a 1.2 percent risk, and "CC" individuals have a 2 percent risk of bipolar disease. Care must be exercised when, in this example, the claim is accurately made that the "C" allele confers a 20 percent increased risk of bipolar disease because this effect, when expressed in this fashion, could exaggerate the practical importance of an increase from the population risk of 1 percent to a modified risk of 1.2 percent.
|
From page 88... ...
6. The test should have an acceptably low risk of ambiguous results.
|
From page 89... ...
A number of commercial laboratories directly offer consumers an analysis of a large panel of selected SNPs that are used to calculate the future risk of developing a number of diseases in the tested individual. Surveying the websites of the three most prominent firms, Navigenics, 23andMe, and deCODE, there are 10 common diseases included in the panels of all three companies: 1.
|
From page 90... ...
Proponents argue that individual autonomy requires unrestricted access to any potentially available genetic information. Efforts to limit access have been branded as paternalistic.
|
From page 91... ...
There are many examples from the pre-genomic era of the failure to translate statistically validated risk stratification into an effective screening regimen or intervention. (Prostate cancer screening in African American men is a familiar example.)
|
From page 92... ...
2009. Direct-to-consumer/patient advertising of genetic testing: A position statement of the American College of Clinical Pharmacology.
|
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.