National Coalition for Health Professional Education in Genetics

Lutherville, MD, United States

National Coalition for Health Professional Education in Genetics

Lutherville, MD, United States

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Wolf S.M.,University of Minnesota | Crock B.N.,University of Minnesota | Van Ness B.,University of Minnesota | Lawrenz F.,University of Minnesota | And 23 more authors.
Genetics in Medicine | Year: 2012

Biobanks and archived data sets collecting samples and data have become crucial engines of genetic and genomic research. Unresolved, however, is what responsibilities biobanks should shoulder to manage incidental findings and individual research results of potential health, reproductive, or personal importance to individual contributors (using "biobank" here to refer both to collections of samples and collections of data). This article reports recommendations from a 2-year project funded by the National Institutes of Health. We analyze the responsibilities involved in managing the return of incidental findings and individual research results in a biobank research system (primary research or collection sites, the biobank itself, and secondary research sites). We suggest that biobanks shoulder significant responsibility for seeing that the biobank research system addresses the return question explicitly. When reidentification of individual contributors is possible, the biobank should work to enable the biobank research system to discharge four core responsibilities to (1) clarify the criteria for evaluating findings and the roster of returnable findings, (2) analyze a particular finding in relation to this, (3) reidentify the individual contributor, and (4) recontact the contributor to offer the finding. We suggest that findings that are analytically valid, reveal an established and substantial risk of a serious health condition, and are clinically actionable should generally be offered to consenting contributors. This article specifies 10 concrete recommendations, addressing new biobanks as well as those already in existence. ©American College of Medical Genetics and Genomics.


Devaney S.A.,Johns Hopkins University | Devaney S.A.,U.S. National Institutes of Health | Palomaki G.E.,Brown University | Scott J.A.,Johns Hopkins University | And 2 more authors.
JAMA - Journal of the American Medical Association | Year: 2011

Context: Noninvasive prenatal determination of fetal sex using cell-free fetal DNA provides an alternative to invasive techniques for some heritable disorders. In some countries this testing has transitioned to clinical care, despite the absence of a formal assessment of performance. Objective: To document overall test performance of noninvasive fetal sex determination using cell-free fetal DNA and to identify variables that affect performance. Data Sources: Systematic review and meta-analysis with search of PubMed (January 1, 1997-April 17, 2011) to identify English-language human studies reporting primary data. References from review articles were also searched. Study Selection and Data Extraction: Abstracts were read independently to identify studies reporting primary data suitable for analysis. Covariates included publication year, sample type, DNA amplification methodology, Y chromosome sequence, and gestational age. Data were independently extracted by 2 reviewers. Results: From 57 selected studies, 80 data sets (representing 3524 male-bearing pregnancies and 3017 female-bearing pregnancies) were analyzed. Overall performance of the test to detect Y chromosome sequences had the following characteristics: sensitivity, 95.4% (95% confidence interval [CI], 94.7%-96.1%) and specificity, 98.6% (95% CI, 98.1%-99.0%); diagnostic odds ratio (OR), 885; positive predictive value, 98.8%; negative predictive value, 94.8%; area under curve (AUC), 0.993 (95% CI, 0.989-0.995), with significant interstudy heterogeneity. DNA methodology and gestational age had the largest effects on test performance. Methodology test characteristics were AUC, 0.988 (95% CI, 0.979-0.993) for polymerase chain reaction (PCR) and AUC, 0.996 (95% CI, 0.993-0.998) for real-time quantitative PCR (RTQ-PCR) (P=.02). Gestational age test characteristics were AUC, 0.989 (95% CI, 0.965-0.998) (<7 weeks); AUC, 0.994 (95% CI, 0.987- 0.997) (7-12 weeks); AUC, 0.992 (95% CI, 0.983-0.996) (13-20 weeks); and AUC, 0.998 (95% CI, 0.990-0.999) (>20 weeks) (P=.02 for comparison of diagnostic ORs across age ranges). RTQ-PCR (sensitivity, 96.0%; specificity, 99.0%) outperformed conventional PCR (sensitivity, 94.0%; specificity, 97.3%). Testing after 20 weeks (sensitivity, 99.0%; specificity, 99.6%) outperformed testing prior to 7 weeks (sensitivity, 74.5%; specificity, 99.1%), testing at 7 through 12 weeks (sensitivity, 94.8%; specificity, 98.9%), and 13 through 20 weeks (sensitivity, 95.5%; specificity, 99.1%). Conclusions: Despite interstudy variability, performance was high using maternal blood. Sensitivity and specificity for detection of Y chromosome sequences was greatest using RTQ-PCR after 20 weeks' gestation. Tests using urine and tests performed before 7 weeks' gestation were unreliable. ©2011 American Medical Association. All rights reserved.


Kaufman D.,Johns Hopkins University | Bollinger J.,Johns Hopkins University | Dvoskin R.,Johns Hopkins University | Scott J.,National Coalition for Health Professional Education in Genetics
Genetics in Medicine | Year: 2012

Purpose:In 2006, the Department of Veterans Affairs launched the Genomic Medicine Program with the goal of using genomic information to personalize and improve health care for veterans. A step toward this goal is the Million Veteran Program, which aims to enroll a million veterans in a longitudinal cohort study and establish a database with genomic, lifestyle, military-exposure, and health information. Before the launch of the Million Veteran Program, a survey of Department of Veterans Affairs patients was conducted to measure preferences for opt-in and opt-out models of enrollment and consent.Methods:An online survey was conducted with a random sample of 451 veterans. The survey described the proposed Million Veteran Program database and asked respondents about the acceptability of opt-in and opt-out models of enrollment. The study examined differences in responses among demographic groups and relationships between beliefs about each model and willingness to participate.Results:Most respondents were willing to participate under both opt-in (80%) and opt-out (69%) models. Nearly 80% said they would be comfortable providing access to residual clinical samples for research. At least half of respondents did not strongly favor one model over the other; of those who expressed a preference, significantly more people said they would participate in a study using opt-in methods. Stronger preferences for the opt-in approach were expressed among younger patients and Hispanic patients.Conclusion:Support for the study and willingness to participate were high for both enrollment models. The use of an opt-out model could impede recruitment of certain demographic groups, including Hispanic patients and patients under the age of 55 years. © American College of Medical Genetics and Genomics.


Bradley L.A.,Brown University | Palomaki G.E.,Brown University | Bienstock J.,Johns Hopkins University | Varga E.,Nationwide Childrens Hospital | And 3 more authors.
Genetics in Medicine | Year: 2012

Women with recurrent pregnancy loss are offered Factor V Leiden (F5) and/or prothrombin G20210A (F2) testing to identify candidates for anticoagulation to improve outcomes. A systematic literature review was performed to estimate test performance, effect sizes, and treatment effectiveness. Electronic searches were performed through April 2011, with review of references from included articles. English-language studies addressed analytic validity, clinical validity, and/or clinical utility and satisfied predefined inclusion criteria. Adequate evidence showed high analytic sensitivity and specificity for F5 and F2 testing. Evidence for clinical validity was adequate. The summary odds ratio for association of recurrent pregnancy loss with F5 in case-controlled studies was 2.02 (95% confidence interval, 1.60-2.55), with moderate heterogeneity and suggestion of publication bias. Longitudinal studies in women with recurrent pregnancy loss or unselected cohorts showed F5 carriers were more likely to have a subsequent loss than noncarriers (odds ratios: 1.93 and 2.03, respectively). Results for F2 testing were similar. For clinical utility, evidence was adequate that anticoagulation treatments were ineffective (except in antiphospholipid antibody syndrome) and had treatment-associated harms. The certainty of evidence is moderate (high, moderate, and low) that anticoagulation of women with recurrent pregnancy loss and F5/F2 variants would currently lead to net harms. © 2012 American College of Medical Genetics.


Scott J.,National Coalition for Health Professional Education in Genetics | Trotter T.,San Ramon Valley Primary Care Medical Group
Pediatrics | Year: 2013

With the recent expansion of genetic science, its evolving translation to clinical medicine, and the growing number of available resources for genomics in primary care, the primary care provider must increasingly integrate genetics and genomics into daily practice. Because primary care medicine combines the treatment of acute illness with disease prevention and anticipatory guidance, the primary care provider is in an ideal position to evaluate and treat patients for genetic disease. The notion that genetic knowledge is only rarely needed will have to be replaced with a comprehensive approach that integrates "genetic thinking" into every patient encounter. Genomic competencies will need to be added to the primary care provider's repertoire; such competencies include prevention, assessment, evaluation, and diagnosis of genetic conditions; the ordering and interpreting of genetic tests; communication with families; appropriate referrals; and themanagement or comanagement of care. The process of deciding when to order genetic tests, what tests to order, and how to interpret the results is complex, and the tests and their results have specific risks and benefits, especially for pediatric patients. The longitudinal nature of primary pediatric care provides the opportunity to obtain and continually update the family history, which is the most powerful initial genetic "test." The ongoing provider-family relationship, coupled with the astounding number of advances in genetic and genomic testing, also necessitates a constant re-evaluation of past diagnosis or nondiagnosis. © 2013 by the American Academy of Pediatrics.


Kaufman D.J.,Johns Hopkins University | Bollinger J.M.,Johns Hopkins University | Dvoskin R.L.,Johns Hopkins University | Scott J.A.,National Coalition for Health Professional Education in Genetics
Journal of Genetic Counseling | Year: 2012

Direct-to-consumer genetic testing has generated speculation about how customers will interpret results and how these interpretations will influence healthcare use and behavior; however, few empirical data on these topics exist. We conducted an online survey of DTC customers of 23andMe, deCODEme, and Navigenics to begin to address these questions. Random samples of U.S. DTC customers were invited to participate. Survey topics included demographics, perceptions of two sample DTC results, and health behaviors following DTC testing. Of 3,167 DTC customers invited, 33% (n01,048) completed the survey. Forty-three percent of respondents had sought additional information about a health condition tested; 28% had discussed their results with a healthcare professional; and 9% had followed up with additional lab tests. Sixteen percent of respondents had changed a medication or supplement regimen, and onethird said they were being more careful about their diet. Many of these health-related behaviors were significantly associated with responses to a question that asked how participants would perceive their colon cancer risk (as low, moderate, or high) if they received a test result showing an 11% lifetime risk, as compared to 5% risk in the general population. Respondents who would consider themselves to be at high risk for colon cancer were significantly more likely to have sought information about a disease (p00.03), discussed results with a physician (p00.05), changed their diet (p00.02), and started exercising more (p00.01). Participants' personal health contexts-including personal and family history of disease and quality of self-perceived health-were also associated with health-related behaviors after testing. Subjective interpretations of genetic risk data and personal context appear to be related to health behaviors among DTC customers. Sharing DTC test results with healthcare professionals may add perceived utility to the tests. © National Society of Genetic Counselors, Inc. 2012.


Bollinger J.M.,Johns Hopkins University | Scott J.,National Coalition for Health Professional Education in Genetics | Dvoskin R.,Johns Hopkins University | Kaufman D.,Johns Hopkins University
Genetics in Medicine | Year: 2012

Purpose: People are interested in receiving their individual research results in exchange for participating in genetic research. However, it is unclear whether the public understands the nature and limitations of these results and whether they would want information with unknown clinical utility. Methods: We conducted 10 focus groups in three US cities to examine the types of results people would want and the perceived value of different types of individual research results. Results: Nearly all focus group participants said they would want at least some individual research results returned. Priority was placed on results that are well understood. Less important to participants were the magnitude of the risk conferred and actionability of the result. In addition to helping treat or prevent disease, participants identified several other potential health-related and personal reasons for wanting individual research results. Many believed that researchers have an obligation to return individual research results. Although most people would prefer to receive as much information as possible, many would accept the return of a limited set of results. Conclusion: Participants understood the nuances and limitations of individual research results. Researchers deciding the value of returning a given result should consider using a broader definition of clinical utility as well as the possible personal utility of the information. ©American College of Medical Genetics and Genomics.


McInerney J.D.,National Coalition for Health Professional Education in Genetics | Edelman E.,National Coalition for Health Professional Education in Genetics | Nissen T.,National Coalition for Health Professional Education in Genetics | Reed K.,National Coalition for Health Professional Education in Genetics | Scott J.A.,National Coalition for Health Professional Education in Genetics
Personalized Medicine | Year: 2012

Genomic medicine holds the prospect of transforming clinical medicine and public health, but the current understanding of genetics and genomics among health professionals is a major impediment to the integration of genomic technologies into mainstream practice. Effective and consistent education is a central component of the translation of research into practical application. The National Coalition for Health Professional Education in Genetics (MD, USA) has more than a decade of experience in the development of educational programs that help to incorporate genomic medicine into education and practice. © 2012 Future Medicine Ltd.


Terry S.F.,Genetic Alliance | Horn E.J.,Genetic Alliance | Scott J.,Genetic Alliance Registry and BioBank | Scott J.,National Coalition for Health Professional Education in Genetics | And 2 more authors.
Personalized Medicine | Year: 2011

The Genetic Alliance Registry and BioBank was founded in 2003 on the principal that a shared infrastructure would facilitate easy flow of resources and accelerate disease-specific research. Based on the Pseudoxanthoma Elasticum International Registry and BioBank, six disease advocacy organizations came together to identify the best solutions for advocacy organizations to promote and collect biological samples with associated clinical information from their members. This required a flexible system that could accommodate an extensive amount of data and samples, support new avenues of research, yet be adaptable to meet the needs of a variety of organizations, and straightforward to implement and use. After extensive landscape analyses, a cross-disease, infinitely expandable registry and biorepository was established. This article reports on this effort and shares the lessons learned. © 2011 Future Medicine Ltd.


PubMed | Genetic Alliance, National Coalition for Health Professional Education in Genetics, El Camino Hospital and University of Illinois at Chicago
Type: Journal Article | Journal: Genetics in medicine : official journal of the American College of Medical Genetics | Year: 2016

Education of practicing health professionals is likely to be one factor that will speed appropriate integration of genomics into routine clinical practice. Yet many health professionals, including physicians, find it difficult to keep up with the rapid pace of clinical genomic advances and are often uncomfortable using genomic information in practice.Having identified the genomics educational needs of physicians in a Silicon Valley-area community hospital, we developed, implemented, and evaluated an educational course entitled Medicines Future: Genomics for Practicing Doctors. The course structure and approach were based on best practices in adult learning, including interactivity, case-based learning, skill-focused objectives, and sequential monthly modules.Approximately 20-30 physicians attended each module. They demonstrated significant gains in genomics knowledge and confidence in practice skills that were sustained throughout and following the course. Six months following the course, the majority of participants reported that they had changed their practice to incorporate skills learned during the course.We believe the adult-learning principles underlying the development and delivery of Medicines Future were responsible for participants outcomes. These principles form a model for the development and delivery of other genomics educational programs for health professionals.Genet Med 18 7, 737-745.

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