For this moment, trade places with a woman, in her mid 40s, who for many anxious months has met the dawn following another fitful, sleep-deprived night, with lightening-strike pains streaking from the base of her neck to the tips of her toes, joint tenderness, and a body that feels brittle and stiff, a real downer from the supple, energetic person she was before this vague malaise took hold.
She feels depressed, defeated—in no small measure because her physician has repeatedly told her (during visits spanning nearly a year) that the pain is only “in her head.”
She spots a woman like herself in a Lyrica commercial, and that woman is smiling, moving gracefully, with ease. That woman it’s said, has conquered her pain, even given it a name—fibromyalgia.
Many people have lived our woman’s scenario for years—an average of 5 years overall—before they were found to meet the criteria for a fibromyalgia diagnosis; but no more.
The FM/a test from EpicGenetics, Santa Monica, is a simple blood test that diagnoses fibromyalgia, with results usually available in 1 week or less. It is a multibiomarker-based test, which concerns immune system white blood chemokine and cytokine patterns, proteins for which patients with fibromyalgia have a significantly dysregulated pattern.
People’s neurological problems have long been the province of neurologists, who have often needed to take a chunk of time to form a diagnosis without the benefit of definitive clinical diagnostic metrics.
Test makers have recently made great strides in developing diagnostics that more rapidly help cement many diagnoses.
Quest Diagnostics, Madison, NJ, has just introduced the first clinical test panel for aiding the diagnosis of suspected dementia due to treatable forms of cognitive impairment. The panel combines several guideline-recommended tests for determining secondary, treatable causes of dementia as a single blood test and report.
And Athena Diagnostics, Worcester, Mass, a division of Quest, offers clinical availability of new genetic tests to help detect a number of rare neurological disorders, such as hereditary neuropathy, neuromuscular disease, epilepsy, and specific movement disorders.
We are deeply grateful for these advances, especially if health disorders impact our lives personally. (My dad lived with Parkinson’s disease for 25 years, his abilities diminishing day by day, before he died at 65.)
Do you sometimes feel as if popular media presents medicine as if it’s a generic high-speed bullet train—on an engineered path from Point A to B—and all you need to get well is the price of a ticket? But sometimes . . .
In the April 2013 issue, the CDC’s Muin J. Khoury, MD, PhD, founding director, Office of Public Health Genomics, shares challenges that undeniably lie ahead in the seemingly faster track toward broader genetic testing.
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