Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.

PURPOSE: Cardiovascular disease (CVD) is the leading cause of death in adults in the United States, yet the benefits of genetic testing are not universally accepted. METHODS: We developed the "HeartCare" panel of genes associated with CVD, evaluating high-penetrance Mendelian conditions, coronary artery disease (CAD) polygenic risk, LPA gene polymorphisms, and specific pharmacogenetic (PGx) variants. We enrolled 709 individuals from cardiology clinics at Baylor College of Medicine, and samples were analyzed in a CAP/CLIA-certified laboratory. Results were returned to the ordering physician and uploaded to the electronic medical record. RESULTS: Notably, 32% of patients had a genetic finding with clinical management implications, even after excluding PGx results, including 9% who were molecularly diagnosed with a Mendelian condition. Among surveyed physicians, 84% reported medical management changes based on these results, including specialist referrals, cardiac tests, and medication changes. LPA polymorphisms and high polygenic risk of CAD were found in 20% and 9% of patients, respectively, leading to diet, lifestyle, and other changes. Warfarin and simvastatin pharmacogenetic variants were present in roughly half of the cohort. CONCLUSION: Our results support the use of genetic information in routine cardiovascular health management and provide a roadmap for accompanying research.

Positive predictive value of an elevated cardiac troponin for type I myocardial infarction in ED patients based on the chief complaint.

BACKGROUND: Cardiac troponin testing is used to aid the diagnosis of myocardial infarction (MI) in the emergency department (ED) for patients who present with a range of symptoms. From a clinical perspective, the distinction between MI due to acute coronary artery thrombosis (type I MI) and other forms of direct and secondary myocardial injury (type II MI) is very important. However, the positive predictive value (PPV) of an elevated troponin for diagnosing type I MI, based on clinical history, has not been described. The objective of this study was to determine the PPV of an elevated troponin for type I MI based on the ED chief complaint. METHODS: We retrospectively reviewed the medical records of 1772 consecutive patients who had a troponin ordered in the ED at a tertiary care center over the period of March 1, 2013, to April 30, 2013. The chief complaint was based on official ED coding. For patients with a positive troponin, 2 authors independently reviewed the electronic medical record pertaining to the index encounter and subsequent hospitalization to adjudicate the cause. RESULTS: There was a significant association between the PPV of an elevated troponin for type I MI and the chief complaint. Patients with a chief complaint of chest pain were significantly more likely to have a type I MI compared to those without (PPV 84% vs 20%; Adjusted Odds Ratio (AOR), 14.31; P < .0001). There was also a significant association between the rate of type I MI and the chief complaint in all patients who had a troponin drawn. Patients with a chief complaint of chest pain were significantly more likely to have a type I MI compared to those without (PPV 9.8% vs 1.3%; AOR, 7.34; P < .0001). CONCLUSION: Applying information on the PPV of troponin for type I MI based on the clinical history could improve troponin utilization and clinical decision making.

Patient and Clinician Perceptions of Precision Cardiology Care: Findings From the HeartCare Study.

BACKGROUND: Routine genome-wide screening for cardiovascular disease risk may inform clinical decision-making. However, little is known about whether clinicians and patients would find such testing useful or acceptable within the context of a genomics-enabled learning health system. METHODS: We conducted surveys with patients and their clinicians who were participating in the HeartCare Study, a precision cardiology care project that returned results from a next-generation sequencing panel of 158 genes associated with cardiovascular disease risk. Six weeks after return of results, we assessed patients' and clinicians' perceived utility and disutility of HeartCare, the effect of the test on clinical recommendations, and patients' attitudes toward integration of research and clinical care. RESULTS: Among 666 HeartCare patients with a result returned during the survey study period, 42.0% completed a full or partial survey. Patient-participants who completed a full survey (n=224) generally had positive perceptions of HeartCare independent of whether they received a positive or negative result. Most patient-participants considered genetic testing for cardiovascular disease risk to have more benefit than risk (88.3%) and agreed that it provided information that they wanted to know (81.2%), while most disagreed that the test caused them to feel confused (77.7%) or overwhelmed (78.0%). For 122 of their patients with positive results, clinicians (n=13) reported making changes in clinical care for 66.4% of patients, recommending changes in health behaviors for 36.9% of patients, and recommending to 33.6% of patients that their family members have clinical testing. CONCLUSIONS: Both patients and clinicians thought the HeartCare panel screen for cardiovascular disease risk provided information that was useful in terms of personal or health benefits to the patient and that informed clinical care without causing patients to be confused or overwhelmed. Further research is needed to assess perceptions of genome-wide screening among the US cardiology clinic population.