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AHA says genetic testing for certain CV conditions can help guide decisions
The American Heart Association (AHA) believes that genetic testing can improve the understanding of a variety of inherited cardiovascular diseases and could help patients and health care providers make decisions, identify risks, and manage treatment.
AHA outlined current best practices for genetic testing for the management of inherited cardiovascular diseases in a new scientific statement, which was published this July in Circulation: Genomic and Precision Medicine.
“In some cases, it might be possible to act early and prevent the disease,” said Kiran Musunuru, MD, chair of the statement’s writing group, in a news release. “In other cases, having the mutation for a genetically caused cardiovascular condition might lead to different and possibly more aggressive treatment.”
However, he said that while inheriting a mutation or variant from a parent substantially increases the risk of getting the disease, it does not guarantee the disease.
“Although genetic testing has seen explosive growth in the past few years, both in the clinical setting and with direct-to-consumer testing, genetic testing for heart disease should be reserved for specific patients,” said Musunuru, who is a professor of cardiovascular medicine and genetics at the University of Pennsylvania’s Perelman School of Medicine in Philadelphia.
The statement also outlines what a health care provider should consider before recommending a genetic test for a patient.
According to the AHA statement, cardiovascular conditions that may have an inherited genetic component include
- Cardiomyopathies
- Thoracic aortic aneurysms and dissections
- Arrhythmias
- Familial hypercholesterolemia
The statement also points out that the field of clinical genetics is changing quickly and there is still much to discover. “Genetic testing methods are evolving, and reliable classification of variants identified in genetic testing will remain a preeminent challenge for the practice of clinical genetics,” Musunuru said.
Antibiotics compared to surgery for appendicitis in kids could mean fewer disability days
For children with uncomplicated appendicitis, a new study published in JAMA Network found that initial management with antibiotics compared to emergency surgery was associated with fewer patient disability days.
Currently, most children and adolescents with appendicitis are treated with an appendectomy. In the United States, more than 70,000 children undergo appendectomy each year. Even though it’s highly effective, it’s major surgery requiring general anesthesia with associated perioperative risks and postoperative pain and disability.
In several clinical trials comparing appendectomy to antibiotics alone in adults, nonoperative management has been shown to be safe and effective. In children, an increasing body of literature also supports the safety and efficacy of nonoperative management for uncomplicated appendicitis.
In this multi-institutional, nonrandomized, controlled intervention study of 1,068 children aged 7 through 17 years with uncomplicated appendicitis, researchers found that 67% of the children who received initial nonoperative management with antibiotics alone did not require appendectomy at 1 year. Compared with emergency surgery, initial management with antibiotics alone was significantly associated with fewer patient disability days at 1 year.
The study was conducted between May 2015 and October 2018 with a 1-year follow up through October 2019.
The researchers noted that some of the significant limitations of the study include the prespecified thresholds for success rate of nonoperative management and disability days not being met, as well as substantial missing data.
Managing COPD needs a multifaceted approach
COPD, often caused by tobacco smoking, is usually treated with inhaler therapy. In an “In the Clinic” article published online on August 4 in the Annals of Internal Medicine, W.W. Labaki, MD, of the University of Michigan, and S.R. Rosenberg, MD, of Northwestern University, advised that inhaler therapy should be supplemented by a multifaceted management strategy that includes counseling and pharmacotherapy for smoking cessation, pulmonary rehabilitation, treatment of comorbidities, administration of influenza and pneumococcal immunizations, and prescription of long-term oxygen therapy in hypoxemic patients.
In a synopsis published in NEJM Journal Watch on August 11, Daniel Dressler, MD, summarized the practical recommendations for the multifaceted approach.
Screening. Do not screen asymptomatic adults and screen patients with spirometry with chronic respiratory symptoms and a history of exposure to smoking or workplace vapors.
Diagnostic testing. In patients with confirmed COPD on spirometry, various testing, such as full pulmonary function tests (PFTs), arterial blood gas test, 6-minute walk test, blood eosinophil count, and chest computed tomography can guide management. Consider measuring alpha-1 antitrypsin levels in symptomatic patients, particularly those with fixed airflow obstruction on PFTs, early-onset COPD, family history of alpha-1 antitrypsin deficiency, or concomitant liver disease or panniculitis.
Treatment. Prescribe therapies based on patient risk (i.e., annual exacerbations) and symptom burden using the Global Initiative for Chronic Obstructive Lung Disease ABCD staging system.
When escalating therapy beyond short-acting inhaled bronchodilators, start with long-acting muscarinic antagonists (LAMAs), then add long-acting b-agonists (LABAs). Adding inhaled corticosteroids (ICS) to LABA/LAMA dual therapy predominantly benefits patients with elevated blood eosinophil count (i.e., >0.3×109 cells/L).
Other beneficial adjunctive therapies include vaccinations and pulmonary rehabilitation (for most patients); oxygen therapy (for hypoxemic patients); or lung-volume reduction therapies or lung transplant (for selected patients).
Fluoxetine may not be right for stroke recovery
Two recent trials, published in Lancet Neurology on August 1, revealed that the SSRI fluoxetine may not be beneficial for functional recovery after a stroke.
The randomized, double-blind, placebo-controlled trials, AFFINITY and EFFECTS, investigated the safety and efficacy of fluoxetine on functional outcomes after acute stroke. The results of the AFFINITY trial, which involved 1280 patients in Australia, New Zealand, and Vietnam, indicated that 20 mg of oral fluoxetine daily for 6 months after acute stroke did not improve functional outcomes and increased the risk of falls, bone fractures, and epileptic seizures.
Similarly, the results of the EFFECTS trial, which involved 1500 patients in Sweden, indicated that while the proportion of patients with a new diagnosis of depression was lower with fluoxetine than with placebo, the drug was associated with more bone fractures and hyponatremia after 6 months.
These trials came after a 2011 study published in Lancet Neurology suggested fluoxetine could enhance motor recovery in patients who had experienced moderate to severe ischemic stroke. The study was small, however, and didn’t have a significant effect on practice.