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. Author manuscript; available in PMC: 2025 Aug 1.
Published in final edited form as: J Genet Couns. 2023 Sep 28;33(4):888–896. doi: 10.1002/jgc4.1791

A Health Systems Assessment of Genetic Counseling in Cardiovascular Care in a Large Health System: Adherence to Genetics Recommendations in the Military Health System

Lydia D Hellwig 1,2,3, Amanda Banaag 1,4, Cara Olsen 5, Clesson Turner 6, Mark Haigney 7,8, Tracey Koehlmoos 4,5
PMCID: PMC10972777  NIHMSID: NIHMS1930572  PMID: 37766662

Abstract

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 U.S. 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 socio-economic status, and geographic location contributed significantly to likelihood to receive 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 U.S. 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 underutilization of recommended genetics evaluations for heritable diagnoses and the challenges of assessing use in large health systems studies.

Keywords: Genetic Counseling, Genetic Testing, Public Health, Disparities, Military

INTRODUCTION

Cardiovascular disease continues to be the leading global cause of death with more than 22.2 million deaths expected by 2030 (Tsao et al., 2022). Approximately 1 in 200 individuals have a hereditary cardiovascular condition (Semsarian et al., 2015). Detection and early interventions for those at high risk to develop disease can significantly reduce morbidity and mortality associated with these conditions (Musunuru et al., 2020). Advancements in genetics have allowed for more personalized medical management in cardiovascular care and genetic testing has become a critical tool for guideline-based diagnosis, risk stratification, medical management, and screening for patients and their family members (Cirino et al., 2017, Schwartz et al., 2013, Tester & Ackerman, 2011). Using genetic testing to establish a correct diagnosis and identify at-risk patients and family members can be life-saving (Hofman et al., 2010, Semsarian te al., 2015, van Velzen et al., 2018). Cardiovascular genetic counseling and genetic testing are recommended for a variety of inherited cardiovascular conditions, including cardiomyopathies, arrhythmias, vascular conditions, dyslipidemias, and other diagnoses (Wilde et al., 2022). Despite the recommendations from the European Heart Rhythm Association, Heart Rhythm Society, Asian Pacific Heart Rhythm Society, Latin American Heart Rhythm Society, and a scientific statement from the American Heart Association for genetic counseling and testing for patients with diagnoses of hereditary cardiovascular conditions studies examining large-scale use of genetic counseling and genetic testing in healthcare are largely limited to individual clinic or hospital settings and have demonstrated issues with compliance and mis-ordering of genetic testing (Montanez et al., 2020). Unfortunately, little is published about the use of recommended genetic counseling and testing in cardiovascular care in the broader healthcare setting.

The Military Health System (MHS) is one of the largest integrated health systems in the United States and serves approximately 9.6 million beneficiaries (Defense Health Agency, 2019). The MHS is made up of more than 400 clinics and medical centers and operates in geographic areas which are called Multi-Service Markets (MSM). In addition, there are several characteristics of the MHS that would allow for opportunities in research and implementation of genomic medicine that may overcome previously described barriers in the civilian health system of the United States, including access to care issues, diversity of patient population, and a longitudinal medical record system (Changoor et al., 2018, Department of Defense Board on Diversity and Inclusion Report, 2020).

Known barriers to genetic counseling and genetic testing represent threats to achieving the potential benefits of its use in healthcare (Delikurt et al., 2015). Access to genetics providers remains a critical threat to achieving routine use of genetics and genomics. There is a shortage of genetics providers in the United States at large as well as in the MHS, where there are few genetics providers employed to serve the large beneficiary population (Stoll, et al. 2018, De Castro et al.2016, Maxwell et al., 2020). In 2022, there were only 13 genetic counselors and 11 geneticists in the direct care setting serving the entire MHS (Hogue, 2022). Furthermore, even when genetic counseling services are available, referral to genetics has been shown to be underutilized (Muessig, et al., 2022). In addition, other studies have suggested that disparities in receipt of genetic counseling exist in the civilian healthcare sector, including disparities by race (Ademuyiwa et al., 2021, Lin et al., 2021). A recent study suggested that the universal health coverage in the MHS mitigates many, but not all, racial disparities in health care (Koehlmoos et al., 2022). To our knowledge, no previous published work has examined racial differences or other associations between genetic counseling among beneficiaries with universal health coverage that have hereditary cardiovascular conditions. This information is critical for the development of genomic medicine implementation programs and strategies to reduce or overcome barriers to care. The present study utilizes a health systems approach to examine the current state of genetic counseling and genetic testing in cardiovascular care in a large US health system, the Military Health System (MHS).

METHODS

Data Source and Study Design

Through the use of existing administrative claims data from the Military Health System Data Repository (MDR), a retrospective cross-sectional study of all beneficiaries was conducted. Army, Air Force, Navy, Marine Corps, and Active Duty Guard and Reserve beneficiaries with a diagnosis of hereditary cardiovascular disease during fiscal year 2018 (October 1, 2017 to September 30, 2018) were included. The Military Health System Data Repository (MDR) is a single source of all healthcare claims data for MHS beneficiaries whom received care at military treatment facilities (also known as direct care), or at civilian fee-for-service treatment facilities (also known as private sector care) through their TRICARE benefit (TRICARE, 2021, TRICARE, 2021). TRICARE is the DoD insurance product that provides universal health care coverage to its beneficiaries, which includes active duty military personnel, retirees, and their dependents (Congressional Research Service, 2021). The database does not capture care delivered in combat zones or through the Veterans Health Administration, a separately-administered health system (Schoenfeld et al., 2018). Healthcare claims data from the MDR has been utilized in multiple previous studies investigating health and service utilization in MHS (Bytnar et al., 2021, Johnson et al., 2019, Shiozawa et al., 2019).

Study Population

All beneficiaries of the US Army, Air Force, Navy, Marine Corps, and Active Duty Guards or Reserves during FY 2018 were identified through the Defense Enrollment Eligibility Reporting System (DEERS). This population was used as a denominator for the prevalence calculation of hereditary cardiovascular disease in FY 2018. Inactive National Guard or Reservists and their dependents were excluded due to their inconsistent access to the MHS. International Classification of Diseases, 10th Revision (ICD-10) diagnostic codes or a LDL lab value greater than 190 were used to identify beneficiaries with a diagnosis, or suspected diagnosis in the case of Familial Hypercholesterolemia, of a hereditary cardiovascular disease during FY 2018. For the purpose of this study, we included diagnosis or suspected diagnosis of Familial Hypercholesterolemia or a diagnosis of Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy, Long QT Syndrome, Sudden Cardiac Arrest, Marfan Syndrome, Vascular EDS, and Aortic Aneurysm and Dissection, as genetic counseling and testing is recommended for all of these hereditary cardiovascular conditions. Genetic counseling for patients with cardiovascular diseases was assessed using the ICD-10 code for genetic counseling from FY 2018 to 2020. Because the ICD-10 code for genetic counseling is non-specific to the reason for referral, we limited our assessment to these two years to minimize the chances that genetic counseling was provided for any unrelated indication. Additionally, the Current Procedure Terminology (CPT) code was used to identify genetic testing orders in the system for the same group from FY 2018 to 2020 (October 1, 2017 to September 30, 2020). A full list of ICD-10 codes for hereditary cardiovascular diseases and genetic counseling, and Current Procedure Terminology (CPT) codes for genetic testing orders can be found in Supplemental Tables 1 and 2.

Demographic characteristics of beneficiaries with hereditary cardiovascular diseases were also collected including age category, sex, race, beneficiary category, sponsor relationship, rank, and branch of service. Ethnicity was not included in this study due to its high rate of missing information. Age was initially categorized into eight different categories (0–9, 10–19, 20–29, 30–39, 40–49, 50–59, 60–64, and ≥ 65 years of age), rank was used as a proxy for socioeconomic status and categorized into five groups (Junior Enlisted, Senior Enlisted, Junior Officer, Senior Officers, Warrant Officer/Other, and Unknown/Missing), and race is categorized in the MDR as White, Black, Asian/Pacific Islanders, Native Americans/Alaskan Natives, Other and Unknown. MSM information was also collected.

Analysis

Study analyses included descriptive statistics of patient demographic and military characteristics for the population with hereditary cardiovascular diseases and calculation of the prevalence of hereditary cardiovascular disease in MHS during the study period. Follow up care and compliance with current guidelines for genetic counseling were assessed by calculating the proportion of beneficiaries with hereditary cardiovascular disease who had genetic counseling from FY 2018 to FY 2020. The MSM of the hereditary cardiovascular disease diagnosis was used to compare the geographic characteristics of disease to the availability of clinical genetics providers in the MHS. A power calculation was performed. Given the population size with a 95% confidence interval yielded a total width of the confidence interval of 0.02%. Using the estimated proportion of hereditary CVD as 1/200, total width of the confidence interval of 0.01, and confidence level of 95%, yielded subgroup sizes of 1001 needed for subgroup analyses. The subgroup sizes included in our analyses were much higher and therefore we concluded we had adequate power for these calculations.

In addition to prevalence calculations, chi square tests (p<0.05) and unadjusted and adjusted logistic regression models were used to assess associations of documented genetic counseling and demographic, diagnostic, and geographic information among beneficiaries with hereditary cardiovascular diseases. For these analyses, age groups were collapsed to be <18, 18–29, and 30 and older (which was the reference category), race was collapsed to White (reference) and Non-White, beneficiary category was collapsed to active duty, dependents, and retiree (reference), rank was collapsed to enlisted (reference) and officer, and cardiovascular conditions were collapsed to aortopathy, arrhythmia, cardiomyopathy, and familial hypercholesterolemia. For demographic variables, the category with the largest population was chosen as the reference category. The National Capital Region was selected as the reference category for the Multi-Service Market Areas because it has a multidisciplinary cardiogenetics clinic and the highest number of genetic counselors. For each cardiogenetic disease category, the reference group was those without the condition. Unadjusted and Firth-adjusted odds ratios were calculated with 95% confidence intervals. The Monte Carlo estimates for Fisher exact tests was used to assess differences in receiving genetic counseling by Multi-Service Market Area.

All analyses were performed using SAS version 9.4. This study was conducted under the Low-Value Care in the National Capitol Region/Comparative Effectiveness and Provider-Induced Demand Collaboration Study, and found exempt by the Institutional Review Board of the Uniformed Services University of the Health Sciences. AB and TK have access to the full data used in this study.

RESULTS

We identified 5,345,936 beneficiaries during FY 2018, of whom 23,364 (0.44%) had a diagnosis of a hereditary cardiovascular disease. Table 1 details the demographic and military characteristics of beneficiaries with hereditary cardiovascular disease (Un-collapsed variable information can be found in Supplementary Table 3). The majority of beneficiaries with hereditary cardiovascular disease were between 50–59 years (27.49%), male (61.54%), White (47.45%), having a diagnosis of aortic aneurysm or dissection (38.06%), Senior Enlisted rank (72.66%), and in Army (38.08%). Sponsor relationship was also collected and the majority of beneficiaries were described as self (48.57%), followed by spouse (32.57%), and child (18.29%).

Table 1.

Demographics of All Beneficiaries with Hereditary Cardiovascular Conditions by Genetic Counseling Status, FY 2018 (N=23,364)

Received Genetic Counseling (N=175) No Genetic Counseling (N=23,189) Total Population with Hereditary CVD (23,364) Chi-Square p-value
Age Group (years) <.0001
<18 30 (17.14) 1308 (5.64) 1338 (5.73)
18 to 29 20 (11.43) 1123 (4.84) 1143 (4.89)
30 or older 125 (71.43) 20758 (89.52) 20883 (89.38)
Sex 0.0219
Male 93 (53.14) 14285 (61.60) 14378 (61.54)
Female 82 (46.86) 8904 (38.40) 8986 (38.46)
Race 0.5397
White 79 (45.14) 11007 (47.47) 11086 (47.45)
Non-White* 96 (54.86) 12182 (52.53) 12278 (52.55)
Beneficiary Category <.0001, <.0001*
Active Duty 41 (23.43) 1917 (8.27) 1958 (8.38)
Dependents 91 (52.00) 9593 (41.37) 9684 (41.45)
Retiree 42 (24.00) 11607 (50.05) 11649 (49.86)
Missing <11 <11 73 (0.31)
Rank <.0001, <.0001*
Enlisted 99 (56.57) 17775 (76.65) 17874 (76.50)
Officer 76 (43.43) 5408 (23.32) 5484 (23.47)
Missing <11 <11 <11
Service 0.8652
Army 68 (38.86) 8828 (38.07) 8896 (38.08)
Air Force 60 (34.29) 7372 (31.79) 7432 (31.81)
Navy 32 (18.29) 5004 (21.58) 5036 (21.55)
Marine Corps 11 (6.29) 1412 (6.09) 1423 (6.09)
Other <11 <11 577 (2.47)
Multi-Service Market Area <.0001
National Capital Region 45 (25.71) 1657 (7.15) 1702 (7.28)
Tidewater <11 <11 810 (3.47)
Fort Bragg <11 <11 428 (1.83)
Charleston 0 72 (0.31) 72 (0.31)
Ft Jackson /Shaw 0 124 (0.53) 124 (0.53)
Mississippi Delta 12 (6.86) 332 (1.43) 344 (1.47)
San Antonio 44 (25.14) 1307 (5.64) 1351 (5.78)
Colorado Springs <11 <11 574 (2.46)
San Diego <11 <11 996 (4.26)
Puget Sound 0 274 (1.18) 274 (1.17)
Hawaii <11 <11 336 (1.44)
Anchorage, AK 0 132 (0.57) 132 (0.56)
Fairbanks, AK <11 <11 35 (0.15)
Jacksonville 0 316 (1.36) 316(1.35)
Missing 51 (29.14) 15819 (68.22) 15870 (67.93)
Cardiovascular Conditions
Familial Hypercholesterolemia 19 (10.86) 3120 (13.45) 3139 (13.44) 0.3155
Cardiomyopathy 79 (45.14) 7601 (32.78) 7680 (32.87) 0.0005
Arrhythmia 23 (13.14) 3272 (14.11) 3295 (14.10) 0.7142
Aortopathy 54 (30.86) 9314 (40.17) 9368 (40.10) 0.0123
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*

Chi-square p-value with missing observations removed.

In addition, the MSM of diagnoses for all beneficiaries with hereditary cardiovascular disease are also included in Table 1. Most of the study population did not have MSM information (67.35%) due to the majority being diagnosed in private sector care (75.15%). In the direct care setting, 7.28% of beneficiaries with hereditary cardiovascular disease were diagnosed in the National Capital Region, followed by San Antonio, TX (5.77%), San Diego, CA (4.25%) and Tidewater, VA (3.46%).

Of the 23,364 beneficiaries with a diagnosis of a hereditary cardiovascular disease, only 175 (0.75%) had documented genetic counseling and 0.84% had documented genetic testing. Chi square testing showed significant differences in having documented genetic counseling by age group (p<0.0001), sex (p= 0.0219), beneficiary category (p<0.0001), rank (p<0.0001), and MSM (p<0.0001).

Table 2 shows the unadjusted and Firth-Adjusted logistic regression models for likelihood of receiving genetic counseling. The adjusted logistic regression model showed that sex, race, and cardiovascular diagnosis were not statistically significant predictors of genetic counseling (p<0.05). When adjusting for all of the other included variables, beneficiaries with hereditary cardiovascular disease who were less than 18 had 4.11 times the odds of having genetic counseling as compared to those 30 or older (and the adjusted odds ratio for 18–29 was 2.01). After adjusting for all of the other included variables, active duty beneficiaries with hereditary cardiovascular disease had 4.45 times the odds of having genetic counseling as compared to retired beneficiaries with hereditary cardiovascular disease. After adjusting for all other included variables, officers with hereditary cardiovascular disease had 2.30 times the odds of receiving genetic counseling than enlisted beneficiaries with hereditary cardiovascular disease.

Table 2.

Unadjusted and Adjusted Logistic Regression Results for Associations of Genetic Counseling among Beneficiaries with Hereditary Cardiovascular Conditions, FY 2018

Unadjusted OR (95% CI) Firth Adjusted OR (95% CI)
Age Group (years)
<18 2.96 (1.84 – 4.76)* 0.24 (0.15 – 0.39)*
18 to 29 3.81 (2.55 – 5.97)* 0.50 (0.30 – 0.83)*
30 or older (ref) 1 1
Sex
Male (ref) 1 1
Female 1.42 (1.05 – 1.91)* 0.67 (0.44 – 1.03)
Race
White (ref) 1 1
Non-White* 1.10 (0.81 – 1.48) 1.19 (0.84 – 1.69)
Beneficiary Category
Active Duty 5.91 (3.83 – 9.12)* 0.23 (0.14 – 0.36)*
Dependents 2.62 (1.82 – 3.78)* 0.67 (0.39 – 1.16)
Retiree (ref) 1 1
Rank
Enlisted (ref) 1 1
Officer 2.52 (1.87 – 3.41)* 0.44 (0.32 – 0.59)*
Cardiovascular Conditions
Familial Hypercholesterolemia 0.78 (0.49 – 1.26) 2.14 (0.13 – 35.68)
Cardiomyopathy 1.69 (1.25 – 2.28)* 0.99 (0.06 – 16.00)
Arrhythmia 0.92 (0.59 – 1.43) 2.22 (0.14 – 36.40)
Aortopathy 0.67 (0.48 – 0.92)* 1.81 (0.11 – 29.42)
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Note: Adjusted models are fully saturated models in which all predictors are used as adjustment factors for each other. Sex, race, familial hypercholesterolemia, cardiomyopathy, arrhythmia, and aortopathy were not statistically significant predictors of genetic counseling.

The odds of genetic counseling varied by geographic region (Table 3). In the unadjusted logistic regression model for MSM, there was no statistically significant difference in the odds ratio for genetic counseling received for Mississippi Delta; San Antonio, TX; Hawaii; or Fairbanks, AK; as compared to the National Capital Region. Beneficiaries at Tidewater, VA; Fort Bragg, NC; Colorado Springs, CO; San Diego, CA; or had missing market area information had statistically significant lower odds of having genetic counseling as compared to the National Capital Region.

Table 3:

Logistic Regression Results for Association of Genetic Counseling and Multi-Service Market Area among Beneficiaries with Hereditary Cardiovascular Conditions, FY 2018

Multi-Service Market Area Unadjusted OR (95% CI)
National Capital Region (ref) 1
Tidewater 0.28 (0.12 – 0.65)*
Fort Bragg 0.26 (0.08 – 0.84)*
Charleston -
Ft Jackson /Shaw -
Mississippi Delta 1.33 (0.70 – 2.54)
San Antonio 1.24 (0.81 – 1.89)
Colorado Springs 0.13 (0.03 – 0.53)
San Diego 0.30 (0.14 – 0.64)
Puget Sound -
Hawaii 0.33 (0.10 – 1.07)
Anchorage, AK -
Fairbanks, AK 1.08 (0.15 – 8.09)
Jacksonville -
Missing 0.12 (0.08 – 0.18)*
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DISCUSSION

Using 2018 data for the Military Health System, we identified 5,345,936 beneficiaries, of whom 23,364 had a diagnosis of a hereditary cardiovascular disease, and only 0.75% of these individuals had undergone genetic counseling and 0.84% had genetic testing. The overall prevalence of hereditary cardiovascular disease in the study population was 0.44% which is very similar to the reported prevalence in the general population (Tsao et al., 2022). This suggests that adhering to guidelines regarding the use of genetics to guide screening, diagnosis, and effective treatment for these hereditary cardiovascular conditions remains critically important in this population (Cirino et al., 2017, Wilde et al., 2022).

In addition, despite recommendations for genetic counseling and genetic testing as important components of care for individuals with diagnoses of hereditary cardiovascular diseases, this data suggests that genetic counseling and testing are currently being critically underutilized with only approximately 0.75% of those with a diagnosis having documented genetic counseling and 0.84% undergoing genetic testing. Ideally, all individuals with hereditary cardiovascular diagnoses should have genetic counseling and be offered genetic testing, although estimates of adherence to the guidelines in other large healthcare systems is largely unavailable. This represents a major opportunity for improvement in cardiovascular care by increasing adherence to recommended genetic counseling and genetic testing in cardiovascular care. Provider knowledge and confidence regarding the use of genetics in clinical care is well-known as a barrier to genomic medicine in practice, and most trained cardiovascular providers have little or no training or exposure to genetics (Ahmad et al., 2019, Delikurt et al., 2015, Hellwig et al., 2019). In addition, technological tools such as referral generators based on diagnostic or risk assessment information may also be useful in increasing adherence to the guidelines for care for these patients (Zorn et al., 2022). Many cardiovascular societies recommend a multidisciplinary team approach, including clinical genetic counselors, for the care of patients and families with hereditary cardiovascular diseases and cardiologist awareness and willingness to place referrals to these cardiogenetics clinics is critical (Ahmad et al., 2019, Delikurt et al., 2015, Wilde et al., 2022). Additional barriers to use of genetic counseling and genetic testing in cardiovascular care should also be considered for programs that seek to improve utilization in this clinical specialty (Ahmad et al., 2019, Delikurt et al., 2015). Furthermore, it is important to examine the similarities and differences in health system and genetics use in other single-payer health systems. For example, in Canada, a recent assessment of genetic testing for amyotrophic lateral sclerosis (ALS) showed that 93% of ALS clinics in Canada were routinely ordering genetic testing for familial ALS, but that there were differences in predictive testing across the country (Salmon et al., 2021). Further work is needed to investigate global similarities and differences in genetic testing utilization in cardiovascular care.

Our study did not find a disparity in likelihood to receiving genetic counseling by race. One previously recognized barrier to clinical use of genetics is the existence of racial disparities in access to genetic counseling (Ademuyiwa et al., 2021). This is one of the first studies to report on associations of documented genetic counseling by race and other demographic, geographic, and diagnostic factors. This is consistent with other work that demonstrated no racial disparities in the MHS that are typically experienced in the rest of the country (Koehlmoos et al., 2022). This suggests that racial disparities in genetic counseling in cardiovascular care may be somewhat mitigated by universal healthcare coverage. Additional research is needed to examine disparities in genomic medicine in other areas such as testing and in genetic counseling in other clinical settings.

Unadjusted and adjusted logistic regression models also suggested that there may be differences in who receives genetic counseling by age group, active duty status, and rank-economic status, which is a proxy for socioeconomic status. For example, Active Duty Service Members with hereditary cardiovascular conditions had 4.45 times the odds of receiving genetic counseling as compared to retirees with hereditary cardiovascular diagnoses. This could be, at least in part, due to Active Duty Service Members given priority to be seen at MTFs, as compared to retirees and dependents, who may be referred to Private Sector Care (Committee on the Assessment of the Readjustment Needs of Military Personnel, Veterans, and Their Families, 2013). Given that there are unique military implications and considerations regarding genetic testing, it may be even more beneficial that these individuals have adequate genetic counseling to discuss risks and benefits and facilitate informed decision-making regarding genetic testing (De Castro et al., 2016, Hellwig et al., 2019). These associations may need to be considered when implementing precision medicine efforts to ensure equitable access to all MHS beneficiaries.

As reported in other studies, access to clinical genetics providers is crucial to consider for effective genomic medicine implementation (Chou et al., 2021). Of the 14 multi-service market areas in the direct care setting that captured patients with hereditary cardiovascular diseases, only 6 had a geneticist and/or genetic counselor at one of the associated MTFs (42.8%). In addition, the results from the unadjusted logistic regression model also suggest that the likelihood of receiving genetic counseling may depend on availability of clinical genetics providers employed at the MTF. In addition, it is important to note that the identified clinical genetics providers in the MHS may be assigned to other sub-specialties and may not have the ability to see patients with cardiovascular diseases. This data supports that issues in access to genetic counseling due to the paucity of genetic counselors in the MHS may be playing a key role in the underutilization of genetic counseling and testing for recommended cardiovascular diagnoses and further work is needed to understand the extent of this relationship. Overall, this suggests a need for investing in additional clinical genetics providers as well as considering alternative delivery models, such as telehealth, to provide needed counseling and testing to geographically dispersed patients (Danylchuk et al., 2021).

Most studies to date that have investigated the use of genetic testing in medicine have assessed single clinics or individual hospital settings or have focused on patient uptake of genetic testing for those who have already gained access to genetic counseling (Delikurt et al., 2015). Furthermore, there has been a call for more research and evidence regarding the use of genetics in clinical cardiovascular care (Musunuru et al., 2020). This study leveraged the advantages of one of the largest health systems in the United States to assess the current landscape of guideline-based genetics in cardiovascular care, including genetic counseling and testing.

One limitation to this work is the use of administrative claims data to evaluate healthcare usage. Diagnostic and procedure codes may not accurately capture all individuals with hereditary cardiovascular conditions and genetic counseling and/or genetic testing in the system. As described in other studies, accurate assessment of genetic testing utilization using claims data is a major challenge because of the high prevalence of nonspecific codes (Mackenzie et al., 2020). In order to accurately assess genetic testing in large health care systems, it is critical to address the issues of coding for genetic testing and counseling for billing and reimbursement. In addition, it is likely that not all individuals who present for cardiogenetic counseling have a diagnostic code included in this study and this work does not represent the full work of cardiogenetics or genetic counseling being done for this specialty. In addition, genetic counseling or genetic testing that occurred prior to or after the capture dates would not be represented in this project. Another limitation is the accuracy of care for the age group 65 and older given that these analyses cannot conclude how much of their care would be covered by Medicare and how much is covered by TRICARE. Furthermore, this data cannot be generalized to the broader US healthcare system, as there are important differences between the MHS and the civilian healthcare system (Tanielian et al., 2019). An additional limitation of this work is that ethnicity data was not included and further work is needed to understand and address disparities in genetic counseling and testing in these subpopulations. This study reviewed data prior to the COVID-19 pandemic and additional studies may be needed to examine the use of genetic counseling and testing during that time period as well as future work to assess changes over time that may also reflect the changing landscape of cardiogenetics. The possibility of residual confounding due to additional confounders that were not included in the adjusted logistic regression model is another potential limitation for the analyses completed in this study.

This study demonstrates the underutilization of guideline-based genetic counseling and testing in clinical cardiovascular care in a large healthcare system in which some of the known barriers to health care may be reduced. Importantly, this data suggests that genomic medicine implementation efforts should consider the current state of genetic counseling and testing in the system in addition to the challenges with assessing compliance with guidelines, including accurate assessment of system-wide use of genetic testing. These findings are instrumental in guiding future implementation projects that seek to achieve life-saving benefits of genetic counseling and genetic testing in cardiovascular care.

Supplementary Material

Supinfo

What is known about this topic:

Relatively little is reported about the actual usage of guideline-based genetic counseling in the cardiovascular care setting in large health systems. In addition, relatively little is published about associations between demographic, diagnostic, and geographic factors and the likelihood to receive genetic counseling.

What this paper adds to the topic:

This paper leverages data from the Military Health System to assess the use of genetic counseling for individuals with diagnoses of hereditary cardiovascular conditions as well as investigate the associations between demographic, diagnostic, and geographic characteristics and the likelihood to receive genetic counseling. Furthermore, this paper discusses current challenges and limitations in large health systems analyses related to genetic counseling.

Acknowledgements:

This study was funded through the Comparative Effectiveness and Provider-Induced Demand Collaboration (EPIC) / Low-Value Care in the National Capital Region Project, by the United States Defense Health Agency, Grant # HU0001–11-1–0023. LDH’s time was funded by NHLBI Grant :IAA-A-HL-007.001 and Uniformed Services University Grant # HU00012120102. The funding agency played no role in the design, analysis, or interpretation of findings. The research presented in this paper was conducted to fulfill the degree requirements of the first author (LDH).

Footnotes

Compliance with Ethical Standards

Conflict of Interest Statement and Disclosures: The contents of this publication are the sole responsibility of the authors and do not necessarily reflect the views, assertions, opinions or policies of the Uniformed Services University of the Health Sciences (USUHS), the Henry M. Jackson Foundation for the Advancement of Military Medicine (HJF), the Department of Defense (DoD), or the Departments of the Army, Navy, or Air Force. Mention of trade names, commercial products, or organizations does not imply endorsement by the U.S. Government. Authors LDH, AB, CO, CT, MH, and TK do not have any conflicts of interest to report.

Human Studies and Informed Consent: This study was conducted under the Low-Value Care in the National Capitol Region/Comparative Effectiveness and Provider-Induced Demand Collaboration Study, and found exempt by the Institutional Review Board of the Uniformed Services University of the Health Sciences.

Animal Studies: Not applicable

Data Availability Statement:

The data that support the findings of this study are available from the United States Defense Health Agency. Restrictions apply to the availability of these data, which were used under federal Data User Agreements for the current study, and so are not publicly available.

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Associated Data

This section collects any data citations, data availability statements, or supplementary materials included in this article.

Supplementary Materials

Supinfo
NIHMS1930572-supplement-Supinfo.docx (17.4KB, docx)

Data Availability Statement

The data that support the findings of this study are available from the United States Defense Health Agency. Restrictions apply to the availability of these data, which were used under federal Data User Agreements for the current study, and so are not publicly available.

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