BACKGROUND/RATIONALE:
Integration of genetic information into healthcare can improve health outcomes through improved diagnosis, risk assessment, prognosis and treatment decisions. However, to fully realize the benefits of genetic information, it will be important to identify successful models of care, particularly for the field of adult genetics, which is growing due to increasing recognition of adults with genetic conditions, expanding genetic testing opportunities for adult-onset conditions, and greater numbers of children with genetic conditions surviving to adulthood. The VA is in a unique position to investigate genetic services for adults; it is a large, integrated national healthcare system viewed as a leader in health services genomics research.

OBJECTIVE(S):
The goal of this project was to understand the organizational level needs relating to the adoption and delivery of genomic applications within VHA. To accomplish this goal, we have investigated prevailing approaches for delivery of genomic medicine (Aim 1) , assessed the organization and practice of genomic medicine within the VHA nationwide (Aim 2), identified the environmental and organizational determinants of adoption of genomic medicine within the VA (Aim 3), and used expert panel methods to integrate findings from Aims 1-3 into recommendations for VA organization and practice of genomic medicine (Aim 4).

METHODS:
Semi-structured interviews of clinical leaders in primary care, cardiology, neurology, oncology, gastroenterology, and pathology and laboratory medicine (PALM) were conducted to understand the prevailing approaches to genomic medicine (Aim 1). Interview findings informed the development of a web-based survey designed to measure the organizational and practice system features of genomic medicine at VA facilities nationwide (Aim 2). An analytic dataset has been created by merging data from Aim 2 with data sources that capture key environmental characteristics including the Area Resource File, the VA's Women's Assessment Tool for Comprehensive Health Study, and VA administrative data (Aim 3). Descriptive statistics summarized facility characteristics. Multivariate logistic regression assessed associations between genetic consult availability and organizational characteristics. An expert panel process was used to evaluate the findings (Aim 4).

FINDINGS/RESULTS:
From our semi-structured, key informant interviews (n = 64) we learned that genetic services (defined as genetic testing and consultation) were not typically characterized as advantageous for their facilities or their patients; compatible with organizational norms of low cost and high clinical impact; or applicable to patient populations or norms of clinical care. Furthermore, genetic services had not been systematically adopted in most facilities because of their complexity: knowledge of and expertise on genetic testing was limited, and organizational barriers to utilization of genetic services were formidable. The few facilities that had some success with implementation of genetic services had knowledgeable clinicians interested in developing services and organizational-level facilitators such as accessible genetic test-ordering processes.

Our web-based survey that was sent to 691 VA chiefs (representing 146 sites across all 21 VISNs). We had a 65% response rate. Chiefs indicated that genetic services are relevant to the healthcare needs of Veterans. 11% of facilities had a provider with formal genetics training, 34% had a local champion in genetics. Clinicians could obtain genetics consults at 78% of facilities, however, most are performed at non-VA facilities. Telehealth is not yet widely used. Cancer and neurogenetic consults were most common. Academic affiliation (OR=3.0; 95% CI, 1.1-8.6) and provider education about genetics (OR=2.9; 95% CI, 1.1-7.8) were significantly associated with consult availability. The traditional model of multidisciplinary clinics or coordinated services between geneticists and other providers was most prevalent, though variability in the organization of these services was described, with consults available on-site, at another VA, via tele-genetics, or at non-VA facilities. The emerging model of non-genetics specialists integrating genetics into their practices was also reported, though considerable variability by specialty was reported.

Most PALM chiefs receive only 1-10 requests per year for various genetic tests. The largest volume tests are: factor V Leiden, prothrombin G20210A mutation, MTHFR mutations, HFE mutations, HLA B5701, and IL28B. Most chiefs (90+%) report tests are performed at reference labs. There appears to be an underutilization of BRCA1/2, Lynch syndrome, and KRAS tumor testing with only 50% of PALM chiefs receiving requests in the past year. There may be over-utilization of other tests (e.g., MTHFR, TPMT, VKORC1 and CYP2C9 testing).

IMPACT:
The findings from our national survey of VA clinical leadership will help inform VA organization and practice relating to genomic medicine. We have learned that both traditional and emerging models of clinical genetic consultative services are available in the VA system; however, there is variability in the organization of these services, which may affect the quality of care provided. Increases in the adoption and implementaiton of genetic services within the VA will require a multilevel effort that includes education of providers and administrators, opportunities for observing the benefits of genetic medicine, strategies for reducing the complexity of genomic medicine, expanded strategies for accessing genetics expertise and streamliningutilization, and resources dedicated to assessing the value of genetic information for the outcomes that matter to health-care organizations.

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External Links for this Project

NIH Reporter

Grant Number: I01HX000157-01
Link: https://reporter.nih.gov/project-details/7749588

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PUBLICATIONS:

Journal Articles

1. Scheuner MT, Marshall N, Lanto A, Hamilton AB, Oishi S, Lerner B, Lee M, Yano EM. Delivery of clinical genetic consultative services in the Veterans Health Administration. Genetics in Medicine : Official Journal of The American College of Medical Genetics. 2014 Aug 1; 16(8):609-19. [view]
2. Lerner B, Roberts JS, Shwartz M, Roter DL, Green RC, Clark JA. Distinct communication patterns during genetic counseling for late-onset Alzheimer's risk assessment. Patient education and counseling. 2014 Feb 1; 94(2):170-9. [view]
3. Hamilton AB, Oishi S, Yano EM, Gammage CE, Marshall NJ, Scheuner MT. Factors influencing organizational adoption and implementation of clinical genetic services. Genetics in Medicine : Official Journal of The American College of Medical Genetics. 2014 Mar 1; 16(3):238-45. [view]
4. Khoury MJ, Coates RJ, Fennell ML, Glasgow RE, Scheuner MT, Schully SD, Williams MS, Clauser SB. Multilevel research and the challenges of implementing genomic medicine. Journal of The National Cancer Institute. Monographs. 2012 May 1; 2012(44):112-20. [view]
5. Lerner B, Marshall N, Oishi S, Lanto A, Lee M, Hamilton AB, Yano EM, Scheuner MT. The value of genetic testing: beyond clinical utility. Genetics in Medicine : Official Journal of The American College of Medical Genetics. 2017 Jul 1; 19(7):763-771. [view]

Conference Presentations

1. Scheuner MT, Meyer L, Lerner B, Provenzale D, Yano EM. Genomics Research-Operations Partnerships in VHA. Presented at: VA HSR&D / QUERI National Meeting; 2012 Jul 16; National Harbor, MD. [view]

DRA: Health Systems
DRE: Genomics
Keywords: Assessment, Genomics, Organizational issues
MeSH Terms: none