Connection Between Epigenome, Selective Mutability, Evolution, and Human Disease
Li, Harris et al., PLoS Genetics
Researchers at the Baylor College of Medicine and elsewhere propose a "connection between the epigenome, selective mutability, evolution, and human disease" based on the findings of their study on associations of structural mutability with germline DNA methylation and with non-allelic homologous recombination mediated by low-copy repeats. "Combined evidence from four human sperm methylome maps, human genome evolution, structural polymorphisms in the human population, and previous genomic and disease studies consistently points to a strong association of germline hypomethylation and genomic instability," the Baylor-led team writes.
Making a Case for Expanding Genetic Screening to Entire Populations
Ever wonder what it would be like to extend genetic screening to entire populations in order to identify genetic susceptibilities that may help hasten diagnostics later in patients' lives, improve their family-planning decisions before conceiving a child, and improve disease prevention?
If your mind has drifted now and then in that direction, a new study may support your thinking.
Current approaches to genetic screening include newborn screening to ID infants "who would benefit from early treatment," targeted reproductive genetic screening "to assist reproductive decision making," and one-off family-history assessment to "identify individuals who would benefit from additional prevention measures," according to the paper, which appears in the current Epidemiological Reviews (Epub ahead of print).
However, genetic screening "has always included atypical element-information relevant to reproductive decisions" thanks to new technologies that offer "increasingly comprehensive" ways to identify genetic conditions and susceptibilities on a broader level.
According to the paper, tests based on these technologies are "generating a different approach to screening" — population-based genetic-screening — "that seeks to inform individuals about all of their genetic traits and susceptibilities for purposes that incorporate rapid diagnosis, family planning, and expediting of research, as well as the traditional screening goal of improving prevention."
However, there may be some roadblocks: Using these tests for this broad indication "will increase the challenges" that already appear as part of other kinds of genetic-screening programs, such as those for certain cancer, including false-positive and "ambiguous" test results, overdiagnosis, and "incidental findings," the paper says.
Moreover, the paper's abstract says using population-based genetic-screening programs "requires careful deliberation on the part of all concerned" — genomic researchers, clinicians, public-health officials, payors, and "especially those who will be the recipients of this novel screening approach."
But on the bright side, the stage appears to already have been set at least to address when genetic tests can be used on entire populations, but it may not be right now: Their use for these indications "requires further empiric research," according to the paper.
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