Genetic Medicine Making Inroads Against Disease

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"The test is not available for clinical practice, but the long-term impact is that we now have a way of helping to identify individuals who are at risk," he told reporters. "We also know a pathway that is mechanistically linked to the disease process. This serves as a way of focusing attention on this gene [for prevention and therapy]."

A second study of more than 37,000 participants found that variants of the LRP5 gene are associated with an increase in the risk of bone fractures (up to 20 percent), as well as lowered bone mineral density.

"This gene by itself changes the risk of osteoporosis only by a small amount," stressed lead author Joyce B. J. van Meurs, of the department of internal medicine at Erasmus Medical Center in Rotterdam, the Netherlands. She added that, going forward, "several genes need to be discovered to make a robust, useful clinical tool for osteoporosis and that's what we're going to do."

A third study found that adults who experienced abuse during childhood and who also have variations in the FKBP5 gene were at greater risk for symptoms of PTSD as adults. The gene is related to the stress response which, in PTSD, appears unable to turn itself down after a trauma or series of traumas, explained study co-author Rebekah G. Bradley of the departments of psychiatry and behavioral sciences at Emory University School of Medicine and the Atlanta VA Medical Center.

The study was conducted in a low-income, urban population of Atlanta where 25 percent of participants reported symptoms consistent with PTSD -- high even when compared to rates experienced by recently returned combat veterans from Iraq.

The stress-linked gene variations "may predict both risk and resilience to PTSD among survivors of [childhood abuse]," Bradley explained. "The gene was not related to depression," she added.

Still, putting genomics into everyday medical practice is in its infancy, Scheuner's study suggested. Her team at the RAND Corporation found that the healthcare workforce is woefully unprepared for the dawning genetic area, especially as more tests are developed for common diseases.