How Should Research Discoveries Inform Clinical Practice?
In the era of genome sequencing, it’s time to update the old “bench-to-bedside” shorthand for how basic research discoveries inform clinical practice, researchers from The Jackson Laboratory (JAX), National Human Genome Research Institute (NHGRI) and institutions across the U.S. declare in a Leading Edge commentary in Cell.
“Interactions between basic and clinical researchers should be more like a ‘virtuous cycle’ of bench to bedside and back again,” says JAX Professor Carol Bult, Ph.D., senior author of the commentary. “New technologies to determine the function of genetic variants, together with new ways to share data, mean it’s now possible for basic and clinical scientists to build upon each other’s work. The goal is to accelerate insights into the genetic causes of disease and the development of new treatments.”
Genome sequencing technologies are generating massive quantities of patient data, revealing many new genetic variants. The challenge, says commentary first author Teri Manolio, M.D., Ph.D., director of the NHGRI Division of Genomic Medicine, “is in mining all these data for genes and variants of high clinical relevance.”
In April 2016, NHGRI convened a meeting of leading researchers from 26 institutions to explore ways to build better collaborations between basic scientists and clinical genomicists, in order to link genetic variants with disease causation. The Cell commentary outlines the group’s recommendations, which include promoting data sharing and prioritizing clinically relevant genes for functional studies.
In order for these collaborations to be most effective, the researchers note, both the basic and clinical research disciplines need better data-management practices. Basic scientists should seek better integration across model systems and focus on standardizing and collecting data on phenotypes (physical characteristics or symptoms) for matching with genomic data. Clinicians should work more closely with the clinical laboratories that perform the genome sequencing; “even better would be a two- or even three-way interchange including the patient as a long-term partner.”
The researchers comment, “These efforts individually and collectively hold great promise for bringing basic and clinical researchers and clinicians, and indeed researchers from many other relevant disciplines, together to work on mutually relevant questions that will ultimately benefit them both, the scientific community at large, and most importantly, the patients whom we are all committed to serving.”
What effects does climate change have on the genetic diversity of living organisms? An international team of researchers studied the genome of the alpine marmot, an ice-age remnant that now lives in large numbers in the high altitude Alpine meadow. Results were unexpected: the species was found to be the least genetically diverse of any wild mammal studied to date.