Assessing multilevel determinants of adoption and implementation of genomic medicine: an organizational mixed-methods approach

PurposeAdoption and implementation of evidence-based genetic and genomic medicine have been slow. We describe a methodology for identifying the influence of organizational factors on adoption and implementation of these services in health-care organizations.MethodsWe illustrate a three-component, mixed-methods health services research approach, including expert panels, qualitative interviews with key informants, and quantitative surveys completed by key informants.ResultsThis research approach yielded a baseline assessment of existing genetic health-care models in the Veterans Health Administration and identified organizational barriers to and facilitators of adoption. In aggregate, the panel and key informant strategies created a communication network of relevant organizational stakeholders and a detailed foundation of organizational knowledge from which to design tools and models for implementation-level genetic/genomic translation.ConclusionExpert panel and key informant strategies can be used to create a backdrop of stakeholder involvement and baseline organizational knowledge within which to plan translation research and to inform strategic planning and policies for adoption and implementation of genetic services in health-care organizations.Genet Med17 11, 919–926.     

Factors influencing organizational adoption and implementation of clinical genetic services

PurposeWe sought to identify characteristics of genetic services that facilitate or hinder adoption.MethodsWe conducted semi-structured key informant interviews in five clinical specialties (primary care, medical oncology, neurology, cardiology, pathology/laboratory medicine) within 13 Veterans Administration facilities.ResultsGenetic services (defined as genetic testing and consultation) were not typically characterized by informants (n = 64) 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.ConclusionAdoption and implementation of genetic services 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 streamlining utilization, and resources dedicated to assessing the value of genetic information for the outcomes that matter to health-care organizations.Genet Med 2014:16(3):238–245.     

Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network

PurposeWhile there is growing scientific evidence for and significant advances in the use of genomic technologies in medicine, there is a significant lag in the clinical adoption and sustainability of genomic medicine. Here we describe the findings from the National Human Genome Research Institute’s (NHGRI) Implementing GeNomics In pracTicE (IGNITE) Network in identifying key constructs, opportunities, and challenges associated with driving sustainability of genomic medicine in clinical practice.MethodsNetwork members and affiliates were surveyed to identify key drivers associated with implementing and sustaining a genomic medicine program. Tallied results were used to develop and weigh key constructs/drivers required to support sustainability of genomic medicine programs.ResultsThe top three driver–stakeholder dyads were (1) genomic training for providers, (2) genomic clinical decision support (CDS) tools embedded in the electronic health record (EHR), and (3) third party reimbursement for genomic testing.ConclusionPriorities may differ depending on healthcare systems when comparing the current state of key drivers versus projected needs for supporting genomic medicine sustainability. Thus we provide gap-filling guidance based on IGNITE members’ experiences. Although results are limited to findings from the IGNITE network, their implementation, scientific, and clinical experience may be used as a road map by others considering implementing genomic medicine programs.     

The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists

PurposeThe success of genomic medicine hinges on the implementation of genetic knowledge in clinical settings. In novel subspecialties, it requires that clinicians refer patients to genetic evaluation or testing, however referral is likely to be affected by genetic knowledge.MethodsAn online survey was administered to self-identified nephrologists working in the United States. Nephrologists’ demographic characteristics, genetic education, confidence in clinical genetics, genetic knowledge, and referral rates of patients to genetic evaluation were collected.ResultsIn total, 201 nephrologists completed the survey. All reported treating patients with genetic forms of kidney disease, and 37% had referred <5 patients to genetic evaluation. A third had limited basic genetic knowledge. Most nephrologists (85%) reported concerns regarding future health insurance eligibility as a barrier to referral to genetic testing. Most adult nephrologists reported insufficient genetic education during residency (65%) and fellowship training (52%). Lower rating of genetic education and lower knowledge in recognizing signs of genetic kidney diseases were significantly associated with lower number of patients referred to the genetic evaluation (P < .001). Most nephrologists reported that improving their genetic knowledge is important for them (>55%).ConclusionsThere is a need to enhance nephrologists’ genetic education to increase genetic testing use in nephrology.     

The business of genomic testing: a survey of early adopters

PurposeThe practice of “genomic” (or “personalized”) medicine requires the availability of appropriate diagnostic testing. Our study objective was to identify the reasons for health systems to bring next-generation sequencing into their clinical laboratories and to understand the process by which such decisions were made. Such information may be of value to other health systems seeking to provide next-generation sequencing testing to their patient populations.MethodsA standardized open-ended interview was conducted with the laboratory medical directors and/or department of pathology chairs of 13 different academic institutions in 10 different states.ResultsGenomic testing for cancer dominated the institutional decision making, with three primary reasons: more effective delivery of cancer care, the perceived need for institutional leadership in the field of genomics, and the premise that genomics will eventually be cost-effective. Barriers to implementation included implementation cost; the time and effort needed to maintain this newer testing; challenges in interpreting genetic variants; establishing the bioinformatics infrastructure; and curating data from medical, ethical, and legal standpoints. Ultimate success depended on alignment with institutional strengths and priorities and working closely with institutional clinical programs.ConclusionThese early adopters uniformly viewed genomic analysis as an imperative for developing their expertise in the implementation and practice of genomic medicine.Genet Med16 12, 954–961.     

Are three methods better than one? A comparative assessment of usability evaluation methods in an EHR

ObjectiveTo comparatively evaluate the effectiveness of three different methods involving end-users for detecting usability problems in an EHR: user testing, semi-structured interviews and surveys.Materials and methodsData were collected at two major urban dental schools from faculty, residents and dental students to assess the usability of a dental EHR for developing a treatment plan. These included user testing (N = 32), semi-structured interviews (N = 36), and surveys (N = 35).ResultsThe three methods together identified a total of 187 usability violations: 54% via user testing, 28% via the semi-structured interview and 18% from the survey method, with modest overlap. These usability problems were classified into 24 problem themes in 3 broad categories. User testing covered the broadest range of themes (83%), followed by the interview (63%) and survey (29%) methods.DiscussionMultiple evaluation methods provide a comprehensive approach to identifying EHR usability challenges and specific problems. The three methods were found to be complementary, and thus each can provide unique insights for software enhancement. Interview and survey methods were found not to be sufficient by themselves, but when used in conjunction with the user testing method, they provided a comprehensive evaluation of the EHR.ConclusionWe recommend using a multi-method approach when testing the usability of health information technology because it provides a more comprehensive picture of usability challenges.     

Electronic health record: Design and implementation of a lab test request module

BackgroundThe electronic health record (EHR) has become a fundamental tool in health care. The ordering and inclusion of lab tests and results is one of the most frequently requested services by EHR users. We have designed, developed and implemented in Andalusia, an autonomous community in the south of Spain (8.3 million inhabitants), a unified lab test request module for the Andalusian public health system EHR.PurposeAfter implementing the module in 27 laboratories, our objective is to assess its impact on healthcare activities and to ascertain whether its functional design addresses the needs and expectations of users.MethodsWe surveyed laboratory and healthcare professionals to assess their opinion of the module's operation in daily practices and the effect it has had on pre- and post-analytical quality indicators (before and after lab test module implementation).ResultsAll the laboratories surveyed noted that the implementation of the laboratory module in the EHR improved the analytical process, highlighting better safety in patient identification, less programming or container errors and shorter response times. Clinical professionals gave the module a rating of 7.8 out of 10, positively highlighting the speed at which results are delivered and their integration in the EHR. In terms of the model's drawbacks, laboratories have highlighted its rigidity in solving errors and clinical professionals have noted the requirement of adapting to a new nomenclature. It is also necessary to expand coding to all the tests available in clinical laboratories.ConclusionsThe results of our survey indicate that the functional design of our analytical testing module is suitable for user needs, allowing to integrate information from multiple laboratories in a single region. Based on our experience, the key aspects for the success of this project have been: a design conceived for both laboratories and clinical professionals, the involvement of laboratories as a key element of the project, as well as sufficient time of local piloting before widespread implementation which is basic for the success of a computer application that affects so many potential users of the health care system.     

Are electronic health records ready for genomic medicine?

PurposeThe goal of this project was to assess genetic/genomic content in electronic health records.MethodsSemistructured interviews were conducted with key informants. Questions addressed documentation, organization, display, decision support and security of family history and genetic test information, and challenges and opportunities relating to integrating genetic/genomics content in electronic health records.ResultsThere were 56 participants: 10 electronic health record specialists, 18 primary care clinicians, 16 medical geneticists, and 12 genetic counselors. Few clinicians felt their electronic record met their current genetic/genomic medicine needs. Barriers to integration were mostly related to problems with family history data collection, documentation, and organization. Lack of demand for genetics content and privacy concerns were also mentioned as challenges. Data elements and functionality requirements that clinicians see include: pedigree drawing; clinical decision support for familial risk assessment and genetic testing indications; a patient portal for patient-entered data; and standards for data elements, terminology, structure, interoperability, and clinical decision support rules. Although most said that there is little impact of genetics/genomics on electronic records today, many stated genetics/genomics would be a driver of content in the next 5–10 years.ConclusionsElectronic health records have the potential to enable clinical integration of genetic/genomic medicine and improve delivery of personalized health care; however, structured and standardized data elements and functionality requirements are needed.     

Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience

PurposeTo describe the frequency and nature of differences in variant classifications between clinicians and genetic testing laboratories.MethodsRetrospective review of variants identified through genetic testing ordered in routine clinical care by clinicians in the Stanford Center for Inherited Cardiovascular Disease. We compared classifications made by clinicians, the testing laboratory, and other laboratories in ClinVar.ResultsOf 688 laboratory classifications, 124 (18%) differed from the clinicians’ classifications. Most differences in classification would probably affect clinical care of the patient and/or family (83%, 103/124). The frequency of discordant classifications differed depending on the testing laboratory (P < 0.0001) and the testing laboratory’s classification (P < 0.00001). For the majority (82/124, 66%) of discordant classifications, clinicians were more conservative (less likely to classify a variant pathogenic or likely pathogenic). The clinicians’ classification was discordant with one or more submitter in ClinVar in 49.1% (28/57) of cases, while the testing laboratory’s classification was discordant with a ClinVar submitter in 82.5% of cases (47/57, P = 0.0002).ConclusionThe clinical team disagreed with the laboratory’s classification at a rate similar to that of reported disagreements between laboratories. Most of this discordance was clinically significant, with clinicians tending to be more conservative than laboratories in their classifications.     

ACMG clinical laboratory standards for next-generation sequencing

Next-generation sequencing technologies have been and continue to be deployed in clinical laboratories, enabling rapid transformations in genomic medicine. These technologies have reduced the cost of large-scale sequencing by several orders of magnitude, and continuous advances are being made. It is now feasible to analyze an individual’s near-complete exome or genome to assist in the diagnosis of a wide array of clinical scenarios. Next-generation sequencing technologies are also facilitating further advances in therapeutic decision making and disease prediction for at-risk patients. However, with rapid advances come additional challenges involving the clinical validation and use of these constantly evolving technologies and platforms in clinical laboratories. To assist clinical laboratories with the validation of next-generation sequencing methods and platforms, the ongoing monitoring of next-generation sequencing testing to ensure quality results, and the interpretation and reporting of variants found using these technologies, the American College of Medical Genetics and Genomics has developed the following professional standards and guidelines.Genet Med15 9, 733–747.     

GUÍA: a digital platform to facilitate result disclosure in genetic counseling

PurposeUse of genomic sequencing is increasing at a pace that requires technological solutions to effectively meet the needs of a growing patient population. We developed GUÍA, a web-based application, to enhance the delivery of genomic results and related clinical information to patients and families.MethodsGUÍA development occurred in five overlapping phases: formative research, content development, stakeholder/community member input, user interface design, and web application development. Development was informed by formative qualitative research involving parents (N = 22) whose children underwent genomic testing. Participants enrolled in the NYCKidSeq pilot study (N = 18) completed structured feedback interviews post–result disclosure using GUÍA. Genetic specialists, researchers, patients, and community stakeholders provided their perspectives on GUÍA’s design to ensure technical, cultural, and literacy appropriateness.ResultsNYCKidSeq participants responded positively to the use of GUÍA to deliver their children’s results. All participants (N = 10) with previous experience with genetic testing felt GUÍA improved result disclosure, and 17 (94%) participants said the content was clear.ConclusionGUÍA communicates complex genomic information in an understandable and personalized manner. Initial piloting demonstrated GUÍA’s utility for families enrolled in the NYCKidSeq pilot study. Findings from the NYCKidSeq clinical trial will provide insight into GUÍA’s effectiveness in communicating results among diverse, multilingual populations.     

Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing

PurposeWe estimated penetrance of actionable genetic variants and assessed near-term outcomes following return of results (RoR).MethodsParticipants (n = 2,535) with hypercholesterolemia and/or colon polyps underwent targeted sequencing of 68 genes and 14 single-nucleotide variants. Penetrance was estimated based on presence of relevant traits in the electronic health record (EHR). Outcomes occurring within 1-year of RoR were ascertained by EHR review. Analyses were stratified by tier 1 and non–tier 1 disorders.ResultsActionable findings were present in 122 individuals and results were disclosed to 98. The average penetrance for tier 1 disorder variants (67%; n = 58 individuals) was higher than in non–tier 1 variants (46.5%; n = 58 individuals). After excluding 45 individuals (decedents, nonresponders, known genetic diagnoses, mosaicism), ≥1 outcomes were noted in 83% of 77 participants following RoR; 78% had a process outcome (referral to a specialist, new testing, surveillance initiated); 68% had an intermediate outcome (new test finding or diagnosis); 19% had a clinical outcome (therapy modified, risk reduction surgery). Risk reduction surgery occurred more often in participants with tier 1 than those with non–tier 1 variants.ConclusionRelevant phenotypic traits were observed in 57% whereas a clinical outcome occurred in 19% of participants with actionable genomic variants in the year following RoR.     

Clinical outcomes of a genomic screening program for actionable genetic conditions

PurposeThree genetic conditions—hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia—have tier 1 evidence for interventions that reduce morbidity and mortality, prompting proposals to screen unselected populations for these conditions. We examined the impact of genomic screening on risk management and early detection in an unselected population.MethodsObservational study of electronic health records (EHR) among individuals in whom a pathogenic/likely pathogenic variant in a tier 1 gene was discovered through Geisinger’s MyCode project. EHR of all eligible participants was evaluated for a prior genetic diagnosis and, among participants without such a diagnosis, relevant personal/family history, postdisclosure clinical diagnoses, and postdisclosure risk management.ResultsEighty-seven percent of participants (305/351) did not have a prior genetic diagnosis of their tier 1 result. Of these, 65% had EHR evidence of relevant personal and/or family history of disease. Of 255 individuals eligible to have risk management, 70% (n = 179) had a recommended risk management procedure after results disclosure. Thirteen percent of participants (41/305) received a relevant clinical diagnosis after results disclosure.ConclusionGenomic screening programs can identify previously unrecognized individuals at increased risk of cancer and heart disease and facilitate risk management and early cancer detection.     

Barriers to integrating personalized medicine into clinical practice: a best-worst scaling choice experiment

PurposeAs advances in genomics make genome sequencing more affordable, the availability of new genome-based diagnostic and therapeutic strategies (i.e., personalized medicine) will increase. This wave will hit front-line physicians who may be faced with a plethora of patients’ expectations of integrating genomic data into clinical care. The objective of this study was to elicit the preferences of physicians about regarding applying personalized medicine in their clinical practice as these strategies become available.MethodsUsing a best–worst scaling (BWS) choice experiment, we estimated the relative importance of attributes that influence physicians’ decision for using personalized medicine. Six attributes were included in the BWS: type of genetic tests, training for genetic testing, clinical guidelines, professional fee, privacy protection laws, and cost of genetic tests. A total of 197 physicians in British Columbia completed the experiment. Using latent class analysis (LCA), we explored the physicians’ heterogeneities in preferences.Results“Type of genetic tests” had the largest importance, suggesting that the physicians’ decision was highly influenced by the availability of genetic tests for patients’ predisposition to diseases and/or drug response. “Training” and “guidelines” were the attributes with the next highest importance. LCA identified two classes of physicians. Relative to class 2, class 1 had a larger weight for the “type of genetic tests,” but smaller weights for “professional fee” and “cost of tests.”ConclusionWe measured relative importance of factors that affect the decision of physicians to incorporate personalized medicine in their practice. These results can be used to design the policies for supporting physicians and facilitating the use of personalized medicine in the future.Genet Med 2012:14(5):520–526     

Hope versus reality: Parent expectations of genomic testing

ObjectiveGenomics is increasingly used for diagnostic testing in children. This study describes the expectations of parents whose child received genomic testing and whether or not they were met.MethodsA diverse stratified, purposive sample of parents of 22 children in New York City was interviewed using a semi-structured guide. Genomic test results were positive, negative, or uncertain.ResultsParents expressed their expectations in narrative and numeric fashion. Parents expected that their child’s test would have a direct effect on their child’s diagnosis. Some believed that results would be definitive, while others recognized testing limitations. Expectations reflected parents’ hope to find a diagnosis and led to disappointment when results were uninformative or did not impact clinical management.ConclusionResults suggest pre-test genetic counseling emphasize the low likelihood of actionable results; however, parents’ expectations of genomics’ diagnostic capabilities are strongly rooted in their need to end the diagnostic odyssey and may be difficult to manage.Practice ImplicationsParents’ hope for a resolution and effective treatment for their child is a powerful context in which genetic counseling is heard. Clinicians who provide genomic testing should continue to acknowledge parents’ preconceptions. Additional research in other settings will help understand how to best address and manage parent expectations of genomic medicine.     

Development of a consent resource for genomic data sharing in the clinical setting

PurposeData sharing between clinicians, laboratories, and patients is essential for improvements in genomic medicine, but obtaining consent for individual-level data sharing is often hindered by a lack of time and resources. To address this issue, the Clinical Genome Resource (ClinGen) developed tools to facilitate consent, including a one-page consent form and online supplemental video with information on key topics, such as risks and benefits of data sharing.MethodsTo determine whether the consent form and video accurately conveyed key data sharing concepts, we surveyed 5,162 members of the general public. We measured comprehension at baseline, after reading the form and watching the video. Additionally, we assessed participants’ attitudes toward genomic data sharing.ResultsParticipants’ performance on comprehension questions significantly improved over baseline after reading the form and continued to improve after watching the video.ConclusionResults suggest reading the form alone provided participants with important knowledge regarding broad data sharing, and watching the video allowed for broader comprehension. These materials are now available at http://www.clinicalgenome.org/share. These resources will provide patients a straightforward way to share their genetic and health information, and improve the scientific community’s access to data generated through routine healthcare.     

The EHR and building the patient’s story: A qualitative investigation of how EHR use obstructs a vital clinical activity

BackgroundRecent research has suggested that using electronic health records (EHRs) can negatively impact clinical reasoning (CR) and interprofessional collaborative practices (ICPs). Understanding the benefits and obstacles that EHR use introduces into clinical activities is essential for improving medical documentation, while also supporting CR and ICP.MethodsThis qualitative study was a longitudinal pre/post investigation of the impact of EHR implementation on CR and ICP at a large pediatric hospital. We collected data via observations, interviews, document analysis, and think-aloud/-after sessions. Using constructivist Grounded Theory’s iterative cycles of data collection and analysis, we identified and explored an emerging theme that clinicians described as central to their CR and ICP activities: building the patient’s story. We studied how building the patient’s story was impacted by the introduction and implementation of an EHR.ResultsClinicians described the patient’s story as a cognitive awareness and overview understanding of the patient’s (1) current status, (2) relevant history, (3) data patterns that emerged during care, and (4) the future-oriented care plan. Constructed by consolidating and interpreting a wide array of patient data, building the patient’s story was described as a vitally important skill that was required to provide patient-centered care, within an interprofessional team, that safeguards patient safety and clinicians’ professional credibility. Our data revealed that EHR use obstructed clinicians’ ability to build the patient’s story by fragmenting data interconnections. Further, the EHR limited the number and size of free-text spaces available for narrative notes. This constraint inhibited clinicians’ ability to read the why and how interpretations of clinical activities from other team members. This resulted in the loss of shared interprofessional understanding of the patient’s story, and the increased time required to build the patient’s story.ConclusionsWe discuss these findings in relation to research on the role of narratives for enabling CR and ICP. We conclude that EHRs have yet to truly fulfill their promise to support clinicians in their patient care activities, including the essential work of building the patient’s story.