A health systems assessment of genetic counseling in cardiovascular care in a large health system: Adherence to genetics recommendations in the Military Health System.

Genetic counseling and genetic testing are important tools for diagnosis, screening, and employment of effective medical management strategies for hereditary cardiovascular diseases. Despite widespread recognition of the benefits of genetic counseling and testing in cardiovascular care, little is published regarding their use in large healthcare systems. We conducted a retrospective cross-sectional study using administrative claims data in the US Military Health System to assess the state of recommended genomic counseling in clinical cardiovascular care. Logistic regression models were used to examine associations of genetic counseling among beneficiaries with hereditary cardiovascular conditions. Approximately 0.44% of beneficiaries in fiscal year 2018 had a diagnosis of a hereditary cardiovascular condition. Among the 23,364 patients with a diagnosis of hereditary cardiovascular disease, only 175 (0.75%) had documented genetic counseling and 196 (0.84%) had documented genetic testing. Genetic counseling did not differ by race, sex, service, or diagnosis. Age group, Active Duty status, rank as a proxy for socioeconomic status, and geographic location contributed significantly to the likelihood of receiving genetic counseling. These findings suggest that genetic counseling is underutilized in clinical cardiovascular care in the Military Health System and may be more broadly, despite expert consensus recommendations for its use and potential life-saving benefits. Unlike previous studies in the US civilian health sector, there did not appear to be disparities in genetic counseling by race or sex in the Military Health System. Strategies to improve care for cardiovascular disease should address the underutilization of recommended genetics evaluations for heritable diagnoses and the challenges of assessing use in large health systems studies.

Exertional-Related Sudden Cardiac Death in a Young, Presumed Healthy, and Medically Screened Population: A Military Case Series.

ABSTRACT: Sudden cardiac death (SCD) is defined as death from cardiac causes with loss of consciousness occurring within 1 hour of a change in cardiovascular status. As subset, SCD associated with physical exertion (SCD/E) can be defined as a cardiac event whose symptoms start during or within 1 hour of physical exertion. The US military represents a unique opportunity for studying SCD/E because of medical screening at recruitment, mandatory physical training, an active surveillance system, and centralized autopsy services. Because of medical screening, recruits are presumed healthy, but significant conditions can go undetected. We present 4 diverse cases of SCD/E in the military setting. Sudden cardiac death associated with physical exertion is often the first indication of a serious occult cardiac pathology. Postmortem genetic testing revealed a causative pathogenic mutation in 1 of 4 cases, enabling genetic testing of family members to prevent similar catastrophic loss of life, underscoring the importance of postmortem evaluation including genetic testing. Further investigations will help direct screening and prevention to capture those at risk for SCD. The cases presented in this series are a sample of the diverse etiologies and contexts surrounding SCD/E in the military setting that have been captured by Armed Forces Medical Examiner System.

Are genetic counselors prepared to counsel active-duty service members? A survey of genetic counselors' self-efficacy, counseling techniques, and knowledge of military policy.

Given the expected rise in genomic sequencing projects within the US Military and the increased availability of genetic testing to the United States as a whole, current and prospective active-duty service members (SMs) may undergo genetic counseling services in the civilian sector for pre-test and post-test counseling. The overall goal of this study was to better understand genetic counselors' preparedness to address military-specific policies and psychosocial needs of patients from this underrepresented population. Members of the National Society of Genetic Counselors were asked to complete a four-part survey including demographic information, Likert scale questions to separately rate self-efficacy when working with civilians and SMs, case scenarios with multiple-choice options and open-ended responses to assess knowledge of military policy, and open-ended questions regarding psychosocial scenarios related to military service. Eighty-eight responses were analyzed using Microsoft Office Excel for the qualitive thematic analysis and SPSS/RStudio for the quantitative data. While over 75% (n = 69/88, SD = 0.48) of surveyed genetic counselors scored 4 of 4 on knowledge of military policy and reported similarly high levels of self-efficacy when working with SMs (mean = 26.77 out of 30, SD = 4.15) and the general population (mean = 27.99 out of 30, SD = 4.31), the qualitative data suggested an alternative perspective. Up to 57% (n = 50/88) of responses were scored as expressing low confidence concerning knowledge of military policy. One potential explanation for this uncertainty may be due to participants reporting that they never (69.32% (n = 61/88]) or are unsure if (12.50% (n = 11/88]) they received training related to providing counseling services to SMs. We suggest the establishment of educational initiatives for genetic counselors focusing on how to discuss genetic testing with SMs in relation to their health and safety, well-being, and potential employment implications.

Patient-centered care and genomic medicine: A qualitative provider study in the military health system.

The diagnostic and predictive information produced by genomic sequencing may impact medical management, and it is critical that providers and institutions are able to use this information appropriately for patient care. Guided by the patient-centered care model, we investigated provider perspectives of patient, provider, and system-level factors that could influence the implementation of genomic medicine within the integrated healthcare system of the US Department of Defense (DOD). The purpose of this study was to explore patient-centered care elements related to the application of genomic sequencing in a military healthcare facility to understand the current capability and key gaps for patient-centered genomic medicine. Twenty DOD healthcare providers were interviewed regarding their past experiences and future expectations of genetics and genomics. These semi-structured interviews were recorded, transcribed and analyzed. All providers interviewed had some experience with genetics, but the level of experience varied greatly. Providers reported widely differing degrees of knowledge and confidence regarding genetics and about military-specific policies regarding genetics which varied by specialty. In addition, most providers stated that their department did not currently have the infrastructure to allow for the care of patients with secondary genetic findings, defined as genetic findings which are intentionally examined because of their importance to healthcare management, but are unrelated to the reason the individual underwent sequencing. This study reveals gaps in key elements of patient-centered care related to genomic medicine that may be helpful to address in future implementation efforts.

Assessing Clinical Utility of Pharmacogenetic Testing in the Military Health System.

INTRODUCTION: Response to medications can differ widely among individual patients. Adverse drug reactions can lead to serious morbidity and mortality. Pharmacogenetic (PGx) testing can predict responses to medications and increased risks of adverse events where the genetic basis is understood. Several published manuscripts suggest positive impacts of systematic preemptive PGx testing. However, few studies have been conducted on PGx implementation in the Military Health System (MHS). MATERIAL AND METHODS: A cross-sectional study of adult beneficiaries in a primary care clinic at a large military treatment facility was conducted in 2022. Participants underwent PGx genotyping of CYP2C19 and CYP2D6 genes at the Defense Health Agency Genetics Reference Laboratory. Participant medication lists were compared to the current Clinical Pharmacogenetic Implementation Consortium (CPIC) PGx gene-drug guidelines to assess potential actionability of these results. RESULTS: Genotyping of CYP2C19 and CYP2D6 in 165 MHS beneficiaries (mean age: 65 years) revealed that 81.2% of participants had at least one abnormal PGx finding. Among those with an abnormal PGx result, 65% were taking a medication listed on the CPIC website with an association with the particular gene in which the finding was identified. In addition, 78% of all of the participants in the study were taking at least one medication that is metabolized by CYP2C19 or CYP2D6 with associated CPIC guidelines. CONCLUSIONS: Pharmacogenetic testing for CYP2C19 and CYP2D6 identified a substantial proportion of MHS patients at a single center who could benefit from evaluation of current medication regimens based on the CPIC guidelines. Individualized medical management may be warranted to a greater degree than previously recognized based on the findings given possible differences in medication metabolism. Many MHS beneficiaries already take medications metabolized by CYP2C19 and CYP2D6, and a substantial proportion may be at risk for preventable adverse events for medications metabolized by these enzymes. While preliminary, a large number of actionable polymorphisms among a relatively small set of individuals taking at-risk medications suggest that implementing PGx testing in clinical practice may be beneficial in the MHS with appropriate clinical infrastructure.

Genetic Counseling Considerations for Military Beneficiaries.

Genetic counseling for military beneficiaries poses unique challenges and counseling opportunities. In order to fully meet the needs of this population, genetic counseling involves critical ethical and psychosocial considerations. This article reviews some elements of genetic counseling that must be considered when working with beneficiaries in the military health system.

Exercise Dose Associated With Military Service: Implications for the Clinical Management of Inherited Risk for Arrhythmogenic Right Ventricular Cardiomyopathy.

INTRODUCTION: High levels of aerobic exercise in individuals who have a gene mutation associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) are associated with clinical disease progression. Guidelines consequently restrict patients from competitive athletics. However, there is minimal literature to guide the safe dosing of physical activity outside of the setting of competitive athletics. Patients may be physically active pursuant to a variety of careers, including military service. This study aimed to define a therapeutic window for exercise for ARVC gene-positive individuals that are compatible with continuing military service and general health while maintaining a level of exercise below that which risks disease progression. MATERIALS AND METHODS: Using standard metabolic equations, we calculated the minimum VO2 max (amount of oxygen utilized at peak exercise capacity) required to pass the physical fitness tests for each branch. We then developed a sample exercise prescription to maintain this level of fitness. We compared the prescribed exercise load with the physical activity levels associated with non-inferior clinical outcomes in ARVC gene-positive individuals. Additionally, we determined the physical activity exposure sustained by service members based on self-report data and compared these values with the upper limit of safe exercise exposure. RESULTS: Based on a review of the currently available literature, aerobic exercise exposure less than 700 to 1,100 MET-hours/year (metabolic equivalent-hours per year) is not associated with inferior clinical outcomes for gene-positive individuals. A military service member needs 600 to 700 MET-hours/year to minimally pass the physical fitness test. However, many military members are exercising in excess of this minimum, with typical exposures between 900 and 2,400 MET-hours/year. CONCLUSIONS: A therapeutic window of aerobic exercise may exist for ARVC gene-positive individuals which would allow continuation of military service while maintaining levels of exercise restriction associated with non-inferior clinical outcomes.

Return of secondary findings in genomic sequencing: Military implications.

BACKGROUND: Genomic sequencing has become a widely used tool in clinical and research settings in both civilian and military healthcare systems. METHODS: In this paper, we consider potential military-specific implications of returning genomic sequencing secondary findings to ensure the proper protections, policies, and processes are in place for the use of this information. RESULTS: We specifically use two examples to highlight potential military implications of the return of secondary findings. CONCLUSION: Clinicians and researchers are strongly encouraged to consider the military implications of the return of results for informed consent of service members or their families undergoing clinical or research genomic sequencing.

Ability of Patients to Distinguish Among Cardiac Genomic Variant Subclassifications.

BACKGROUND: Clinical genetic testing for heritable cardiovascular disease has become a widely used tool to aid in the management of patients and their families. A 5-category variant classification system is commonly used for genetic test results, but some laboratories further subclassify variants of uncertain significance. How and whether patients perceive differences among the variant categories or subclassifications of variants of uncertain significance is unknown. METHODS: We tested whether participants perceived differences in genetic variant subclassifications on outcomes including risk comprehension, risk perception, worry, perceived uncertainty, and intentions. Order-randomized hypothetical cardiovascular genetic results were given to 289 participants enrolled in a genome sequencing study. Three categories of variants were presented to participants: variants of uncertain significance, possibly pathogenic, and likely pathogenic. Responses to the first variant presented were analyzed in a between-groups analysis, and responses to all 3 variants were analyzed in a within-groups analysis. RESULTS: When presented with all 3 results, participants distinguished among the subclassifications on all outcomes (P<0.001). When given only a possibly pathogenic result, their risk perceptions were similar to those of variants of uncertain significance, but they were more worried and intended to behave as if they had received a likely pathogenic result. Individuals depended more on their affective responses such as worry when they received only one result (P<0.05). CONCLUSIONS: Participants are better able to distinguish pathogenicity subclassifications when presented with multiple categories. Individuals who receive a single uncertain result in a cardiovascular disease gene may benefit from interventions to decrease worry, calibrate risk perceptions, and motivate variant-appropriate behaviors.