Routine genomic screening could find risks for cancer and heart disease in 3 to 4 million

Abstract: http://annals.org/aim/article/doi/10.7326/M18-1722

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Unbeknownst to them, at least 1 percent of the U.S. population has an identifiable genetic risk for cancer or heart disease that could be detected and clinically managed through genomic screening. The author of an article published in Annals of Internal Medicine says that identifying those 3 to 4 million persons and effectively mitigating that risk are worthy goals, but more work is needed before genomic screening becomes routine in health care.

According to the author from Yale School of Medicine, current implementation models that demonstrate the clinical utility of routine genomic screening are still preliminary, but show promising results. While the majority of people who receive genomic screening would not find anything that would prompt significant changes to current medical management, the benefit to the few who do have a meaningful finding could be significant. Early case reports show that this approach can identify subclinical disease and prompt important medical interventions.

Cohesive models for implementing genomic screening in routine care are lacking and opportunities to advance knowledge of clinical utility are being missed, according to the author. If achieving better health is the goal, then functioning implementation models must be developed.

Media contact: For an embargoed PDF or author contact information, please contact Lauren Evans at [email protected]. To speak with the lead author, Michael Murray, MD, please contact Ziba Kashef at [email protected].

Abstract: http://annals.org/aim/article/doi/10.7326/L18-0315

URLs go live when the embargo lifts

A patient with dilated cardiomyopathy experienced unprecedented clinical improvement with use of anakinra to inhibit interleukin-1. Improvement began soon after anakinra administration and was obvious by every measure. Findings from a brief case report are published in Annals of Internal Medicine.

Dilated cardiomyopathy is a severe irreversible form of heart disease characterized by left ventricular systolic dysfunction and liation that are not explained by abnormal loading or coronary artery disease. Interleukin-1 was has been found to suppress cardiomyocyte contractility directly and the chronic inflammation mediated by interleukin-1 in dilated cardiomyopathy also causes progressive loss of contractile tissue and fibrosis. Given this dual role, interleukin-1 suppression may prevent or partially reverse disease progression and fibrotic damage.

Clinicians from Vita-Salute San Raffaele University and Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Scientific Institute in Milan, Italy saw a 57-year-old man with a 2-year history of dilated cardiomyopathy whose condition did not improve after initial treatment with diuretics, beta blockers, and angiotensin-converting enzyme inhibitors. The patient was given anakinra to inhibit interleukin-1. Soon after, the patient felt better and was able to lead a more normal life. His arrhythmia improved; serum biomarkers of cardiac dysfunction decreased; and findings on echocardiography and magnetic resonance imaging were more normal, including those that measured the LVEF.

Based on their findings, the authors believe that anakinra and the role of chronic low-grade inflammation in dilated cardiomyopathy deserve further investigation.

Media contact: For an embargoed PDF, please contact Lauren Evans at [email protected]. To interview the lead author, Giulio Cavalli, MD, please email [email protected].

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Review

Abstract: http://annals.org/aim/article/doi/10.7326/M17-2832

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