Year: 2015
Type: article
Abstract: Additionally, the authors raise concerns about using weak signals for medical guidance.By 'weak signals', the authors mean genetic markers that, in their words, 'are associated with changes in risk of a few percentage points -for example, increasing your chance of developing Disease X from 4% to 6%'.They point out that there may be value in detecting strong signals (they give the example of mutations that substantially increase the risk of colon cancer) but argue that detecting these can be done without whole-genome sequencing.The authors also write that these strong signals are already largely known and thus do not require further investigation.We would argue -and we readily admit bias, as we are actively involved in large-scale genomic studies [Solomon, 2014b] -that the authors of the op-ed piece might entertain several considerations before dismissing personalized or precision medicine so promptly.First, our knowledge of all the strong signals in the human genome is in fact increasing steadily.For example, in the past 2 years, over 12 new Mendelian disease genes have been published per month [Solomon, 2014b].This rate of discovery has been largely driven by the same new sequencing technologies that enable Obama's emphasis on genomic medicine [Boycott et al., 2013; Hayden, 2014, Solomon, 2015].To borrow Welch and Burke's analogy, while the fruit do not hang as low as previously, the tools Key Words Genome • Genomic information • Personalized medicine • Precision medicine • Strong signals • Whole-genome sequencing
Source: Molecular Syndromology
DOI: 10.1159/000438732
Authors: Alina Khromykh, Benjamin D. Solomon
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W2264779807