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1.
Am J Hum Genet ; 109(7): 1190-1198, 2022 07 07.
Artículo en Inglés | MEDLINE | ID: mdl-35803232

RESUMEN

Digital health solutions, with apps, virtual care, and electronic medical records, are gaining momentum across all medical disciplines, and their adoption has been accelerated, in part, by the COVID-19 pandemic. Personal wearables, sensors, and mobile technologies are increasingly being used to identify health risks and assist in diagnosis, treatment, and monitoring of health and disease. Genomics is a vanguard of digital healthcare as we witness a convergence of the fields of genomic and digital medicine. Spurred by the acute need to increase health literacy, empower patients' preference-sensitive decisions, or integrate vast amounts of complex genomic data into the clinical workflow, there has been an emergence of digital support tools in genomics-enabled care. We present three use cases that demonstrate the application of these converging technologies: digital genomics decision support tools, conversational chatbots to scale the genetic counseling process, and the digital delivery of comprehensive genetic services. These digital solutions are important to facilitate patient-centered care delivery, improve patient outcomes, and increase healthcare efficiencies in genomic medicine. Yet the development of these innovative digital genomic technologies also reveals strategic challenges that need to be addressed before genomic digital health can be broadly adopted. Alongside key evidentiary gaps in clinical and cost-effectiveness, there is a paucity of clinical guidelines, policy, and regulatory frameworks that incorporate digital health. We propose a research agenda, guided by learning healthcare systems, to realize the vision of digital health-enabled genomics to ensure its sustainable and equitable deployment in clinical care.


Asunto(s)
COVID-19 , Pandemias , COVID-19/genética , Atención a la Salud , Registros Electrónicos de Salud , Genómica , Humanos
2.
Am J Hum Genet ; 109(9): 1563-1571, 2022 09 01.
Artículo en Inglés | MEDLINE | ID: mdl-36055208

RESUMEN

The vision of the American Society of Human Genetics (ASHG) is that people everywhere will realize the benefits of human genetics and genomics. Implicit in that vision is the importance of ensuring that the benefits of human genetics and genomics research are realized in ways that minimize harms and maximize benefits, a goal that can only be achieved through focused efforts to address health inequities and increase the representation of underrepresented communities in genetics and genomics research. This guidance is intended to advance community engagement as an approach that can be used across the research lifecycle. Community engagement uniquely offers researchers in human genetics and genomics an opportunity to pursue that vision successfully, including by addressing underrepresentation in genomics research.


Asunto(s)
Genómica , Investigadores , Humanos , Estados Unidos
3.
Genet Med ; 25(4): 100800, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36748708

RESUMEN

PURPOSE: The use of patient race in medicine is controversial for its potential either to exacerbate or address health disparities. Polygenic risk scores (PRSs) have emerged as a tool for risk stratification models used in preventive medicine. We examined whether PRS results affect primary care physician (PCP) medical decision-making and whether that effect varies by patient race. METHODS: Using an online survey with a randomized experimental design among PCPs in a national database, we ascertained decision-making around atherosclerotic cardiovascular disease prevention and prostate cancer screening for case scenario patients who were clinically identical except for randomized reported race. RESULTS: Across 369 PCPs (email open rate = 10.8%, partial completion rate = 93.7%), recommendations varied with PRS results in expected directions (low-risk results, no available PRS results, and high-risk results). Still, physicians randomized to scenarios with Black patients were more likely to recommend statin therapy than those randomized to scenarios with White patients (odds ratio = 1.74, 95% CI = 1.16-2.59, P = .007) despite otherwise identical clinical profiles and independent of PRS results. Similarly, physicians were more likely to recommend prostate cancer screening for Black patients than for White patients (odds ratio = 1.58, 95% CI = 1.06-2.35, P = .025) despite otherwise identical clinical and genetic profiles. CONCLUSION: Despite advances in precision risk stratification, physicians will likely continue to use patient race implicitly or explicitly in medical decision-making.


Asunto(s)
Médicos de Atención Primaria , Neoplasias de la Próstata , Masculino , Humanos , Detección Precoz del Cáncer , Neoplasias de la Próstata/diagnóstico , Neoplasias de la Próstata/genética , Neoplasias de la Próstata/prevención & control , Antígeno Prostático Específico , Factores de Riesgo , Toma de Decisiones Clínicas
4.
Genet Med ; 17(12): 949-57, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25764215

RESUMEN

Along with rapid advances in human genomics, policies governing genomic data and clinical technologies have proliferated. Stakeholder engagement is widely lauded as an important methodology for improving clinical, scientific, and public health policy decision making. The purpose of this paper is to examine how stakeholder engagement is used to develop policies in genomics research and public health areas, as well as to identify future priorities for conducting evidence-based stakeholder engagements. We focus on exemplars in biobanking and newborn screening to illustrate a variety of current stakeholder engagement in policy-making efforts. Each setting provides an important context for examining the methods of obtaining and integrating informed stakeholder voices into the policy-making process. While many organizations have an interest in engaging stakeholders with regard to genomic policy issues, there is broad divergence with respect to the stakeholders involved, the purpose of engagements, when stakeholders are engaged during policy development, methods of engagement, and the outcomes reported. Stakeholder engagement in genomics policy development is still at a nascent stage. Several challenges of using stakeholder engagement as a tool for genomics policy development remain, and little evidence regarding how to best incorporate stakeholder feedback into policy-making processes is currently available.


Asunto(s)
Genómica , Salud Pública , Genómica/legislación & jurisprudencia , Genómica/organización & administración , Genómica/normas , Humanos , Participación del Paciente , Formulación de Políticas , Relaciones Públicas
5.
Neoreviews ; 25(3): e127-e138, 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-38425196

RESUMEN

Clinicians practicing in a modern NICU are noticing an increase in the proportion of patients who undergo genetic testing as well as changes in the types of genetic testing patients receive. These trends are not surprising given the increasing recognition of the genetic causes of neonatal illness and recent advances in genetic technology. Yet, the expansion of genetic testing in the NICU also raises a number of ethical questions. In this article, we will review the ethical issues raised by genetic testing, with a focus on the practical implications for neonatologists. First, we outline the complexities of measuring benefit, or utility, for neonatal genetic testing. Next, we discuss potential harms such as inequity, unexpected findings, disability biases, and legal risks. Finally, we conclude with a discussion of ethical issues related to consent for genetic testing. Throughout this article, we highlight solutions to challenges toward the ultimate goal of minimizing harms and maximizing the substantial potential benefits of genetic medicine in the NICU.


Asunto(s)
Pruebas Genéticas , Unidades de Cuidado Intensivo Neonatal , Recién Nacido , Humanos
6.
Data Brief ; 52: 109930, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38093856

RESUMEN

Genetic risk scores (GRS) are an emerging and rapidly evolving genomic medicine innovation that may contribute to more precise risk stratification for disease prevention. Inclusion of GRS in routine medical care is imminent, and understanding how physicians perceive and intend to utilize GRS in practice is an important first step in facilitating uptake. This dataset was derived from an electronic survey and comprises one of the first, largest, and broadest samples of United States primary care physician perceptions on the clinical decision-making, benefits, barriers, and utility of GRS to date. The dataset is nearly complete (<1% missing data) and contains responses from 369 PCPs spanning 58 column variables. The public repository includes minimally filtered, de-identified data, all underlying survey versions and items, a data dictionary, and associated analytic files.

7.
Ethics Hum Res ; 46(1): 43-48, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38240400

RESUMEN

Translational research has tended to ignore the question of whether receiving a genomic diagnosis provides utility in community care contexts outside of doctors' offices and hospitals. However, empirical research with parents has highlighted numerous ways that a genomic diagnosis might be of practical value in the care provided by teachers, physical or occupational therapists, speech-language pathologists, behavior analysts, and nonphysician mental health providers. In this essay, we propose a new conceptual model of genomic utility that offers the opportunity to better capture a broad range of potential implications of genomic technologies for families in various social and organizational systems. We explore crucial research directions to better understand how redefined utility might affect families and nonphysician professionals.


Asunto(s)
Trastornos de la Comunicación , Salud Mental , Humanos , Padres , Genómica
8.
Eur J Hum Genet ; 31(11): 1309-1316, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-36807341

RESUMEN

Polygenic risk scores (PRS) may improve risk-stratification in preventive care. Their clinical implementation will depend on primary care physicians' (PCPs) uptake. We surveyed PCPs in a national physician database about the perceived clinical utility, benefits, and barriers to the use of PRS in preventive care. Among 367 respondents (participation rate 96.3%), mean (SD) age was 54.9 (12.9) years, 137 (37.3%) were female, and mean (SD) time since medical school graduation was 27.2 (13.3) years. Respondents reported greater perceived utility for more clinical action (e.g., earlier or more intensive screening, preventive medications, or lifestyle modification) for patients with high-risk PRS than for delayed or discontinued prevention actions for low-risk patients (p < 0.001). Respondents most often chose out-of-pocket costs (48%), lack of clinical guidelines (24%), and insurance discrimination concerns (22%) as extreme barriers. Latent class analysis identified 3 subclasses of respondents. Skeptics (n = 83, 22.6%) endorsed less agreement with individual clinical utilities, saw patient anxiety and insurance discrimination as significant barriers, and agreed less often that PRS could help patients make better health decisions. Learners (n = 134, 36.5%) and enthusiasts (n = 150, 40.9%) expressed similar levels of agreement that PRS had utility for preventive actions and that PRS could be useful for patient decision-making. Compared with enthusiasts, however, learners perceived greater barriers to the clinical use of PRS. Overall results suggest that PCPs generally endorse using PRS to guide medical decision-making about preventive care, and barriers identified suggest interventions to address their needs and concerns.


Asunto(s)
Médicos de Atención Primaria , Médicos , Humanos , Femenino , Persona de Mediana Edad , Masculino , Encuestas y Cuestionarios , Factores de Riesgo , Personal de Salud
9.
J Pers Med ; 13(7)2023 Jun 21.
Artículo en Inglés | MEDLINE | ID: mdl-37511639

RESUMEN

BACKGROUND: It is critical to understand the wide-ranging clinical and non-clinical effects of genome sequencing (GS) for parents in the NICU context. We assessed parents' experiences with GS as a first-line diagnostic tool for infants with suspected genetic conditions in the NICU. METHODS: Parents of newborns (N = 62) suspected of having a genetic condition were recruited across five hospitals in the southeast United States as part of the SouthSeq study. Semi-structured interviews (N = 78) were conducted after parents received their child's sequencing result (positive, negative, or variants of unknown significance). Thematic analysis was performed on all interviews. RESULTS: Key themes included that (1) GS in infancy is important for reproductive decision making, preparing for the child's future care, ending the diagnostic odyssey, and sharing results with care providers; (2) the timing of disclosure was acceptable for most parents, although many reported the NICU environment was overwhelming; and (3) parents deny that receiving GS results during infancy exacerbated parent-infant bonding, and reported variable impact on their feelings of guilt. CONCLUSION: Parents reported that GS during the neonatal period was useful because it provided a "backbone" for their child's care. Parents did not consistently endorse negative impacts like interference with parent-infant bonding.

10.
Genet Med ; 14(2): 236-42, 2012 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-22241102

RESUMEN

PURPOSE: Genetic research involving human participants can pose challenging questions related to ethical and regulatory standards for research oversight. However, few empirical studies describe how genetic researchers and institutional review board (IRB) professionals conceptualize ethical issues in genetic research or where common ground might exist. METHODS: Parallel online surveys collected information from human genetic researchers (n = 351) and IRB professionals (n = 208) regarding their views about human participant oversight for genetic protocols. RESULTS: A range of opinions were observed within groups on most issues. In both groups, a minority thought it likely that people would be harmed by participation in genetic research or identified from coded genetic data. A majority of both groups agreed that reconsent should be required for four of the six scenarios presented. Statistically significant differences were observed between groups on some issues, with more genetic researcher respondents trusting the confidentiality of coded data, fewer expecting harms from reidentification, and fewer considering reconsent necessary in certain scenarios. CONCLUSION: The range of views observed within and between IRB and genetic researcher groups highlights the complexity and unsettled nature of many ethical issues in genome research. Our findings also identify areas where researcher and IRB views diverge and areas of common ground.


Asunto(s)
Actitud del Personal de Salud , Comités de Ética en Investigación/ética , Investigación Genética/ética , Genoma Humano , Investigadores/psicología , Confidencialidad , Recolección de Datos/métodos , Comités de Ética en Investigación/organización & administración , Ética en Investigación , Femenino , Personal de Salud/ética , Personal de Salud/psicología , Humanos , Consentimiento Informado , Masculino , Análisis de Regresión , Investigadores/ética
11.
Am J Med Genet A ; 158A(5): 1029-37, 2012 May.
Artículo en Inglés | MEDLINE | ID: mdl-22438108

RESUMEN

To be respectful of the public, biobank guiding principles and operations should be responsive to and inclusive of the values and beliefs of their participants. In an effort to increase knowledge and inform institutional policies, we conducted a deliberative engagement of individuals from two healthcare facilities in South Side Chicago that serve different socioeconomic communities to consider biobank policies regarding return of research results. We recruited primary caregivers of children receiving care at either a Federally Qualified Health Center or a university-based practice to attend two full-day deliberative engagement sessions, which included four educational presentations followed by focus group discussions. Surveys were administered to assess attitudes before and after the engagement, and an evaluation was conducted to assess the deliberative engagement process. All 45 participants self-identified as African-American. Focus group themes included: (1) overall interest in biobank participation, broad consent, and recontact; (2) root causes of distrust and potential biobank strategies to facilitate trust; (3) perceived positive and negative aspects of receiving research results; and (4) strong interest in receiving and managing their children's research results. Survey data indicated the same degree of interest in receiving results about themselves as about their children. Pre- and post-session findings showed mainly non-significant attitudinal changes in level of interest in biobank participation and return of research results, although there was a decrease in level of concern regarding identification from research data. Our findings reveal shared community insights important in facilitating relationships and policy discussions between biobank researchers and research participants.


Asunto(s)
Bancos de Muestras Biológicas/normas , Investigación Biomédica/normas , Bancos de Muestras Biológicas/organización & administración , Chicago , Niño , Recolección de Datos , Grupos Focales , Humanos
12.
HGG Adv ; 3(4): 100134, 2022 Oct 13.
Artículo en Inglés | MEDLINE | ID: mdl-36039118

RESUMEN

Achieving health equity in precision medicine remains a critical challenge because of the continued underrepresentation of non-white populations in research and barriers to genetic services. The goal of this study was to explore Vietnamese American (VA) participant views toward incorporating genetics in routine healthcare to better serve the local VA community within an integrated health system offering primary care-based population genetic testing to adults for conditions that could be prevented or mitigated when detected early. We conducted semi-structured interviews from August-September 2021, with 22 individuals receiving primary care who self-identified as Vietnamese or VA, and employed rapid qualitative analysis (RQA) to identify key concepts. Community research team members participated in study design, data collection, RQA, and reporting. Findings from the interviews revealed that several participant perceived challenges to genetic testing, which included lack of information, fear of results impact, cost, and privacy concerns. Participants suggested various ways to overcome some of these barriers, such as decreasing the cost of testing, receiving information from a trusted physician, using preferred education strategies in the community, and having convenient access to testing. Study participants also shared a variety of trusted sources they would seek out for advice on genetic testing. This study with VAs identified barriers, facilitators, and messengers to offering genetic testing in a local healthcare context and demonstrated how community-engaged research coupled with RQA is a promising approach for healthcare institutions as they identify needs and tailor strategies for implementing population genetic screening programs in local ethnic communities.

13.
Public Health Genomics ; : 1-10, 2022 May 11.
Artículo en Inglés | MEDLINE | ID: mdl-35545013

RESUMEN

BACKGROUND: Broad participation in genetic research is needed to promote equitable advances in disease treatment and prevention. OBJECTIVES: The objective of the study was to assess motivations for, and concerns about, genetic research participation. METHODS: The Genetics in Research and Health Care Survey was sent in winter 2017-2018 to 57,331 adult Kaiser Permanente (KP) members from 7 US regions to assess attitudes about genetic testing in health care and research. The survey included an open-ended question on why members would or would not participate in genetic research. Open text responses to this question were coded in the qualitative analysis software Dedoose and analyzed using a thematic analysis approach. Code summaries were organized by major themes, subthemes, and exemplary quotes. RESULTS: Of the 10,369 participants who completed the survey, 2,645 (25%) provided a comment describing reasons they would or would not participate in research involving genetic testing. Respondents who provided a text comment were 64% female, 49% non-Hispanic (NH) White, 17% Asian/Pacific Islander, 20% Hispanic, and 14% NH Black. The primary themes identified were (1) altruism; (2) decision-making and planning; (3) data use; and (4) data security. These major themes were consistent across each race and ethnic group. CONCLUSIONS: To promote broad participation in genetic research, it is important that recruitment materials address the primary motivators for genetic research participation, including altruism and the potential use of results for personal decision-making. Study materials should also address concerns about possible misuse of genetic information and fears over potential data breaches.

14.
J Am Board Fam Med ; 34(4): 861-865, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34312282

RESUMEN

INTRODUCTION: Genetic screenings can have a large impact on enabling personalized preventive care. However, this can be limited by the primary use of medical history-based screenings in determining care. The purpose of this study was to understand the impact of DNA10K, a population-based genetic screening program mediated by primary care physicians within an integrated health system to emphasize its contribution to preventive healthcare. METHODS: Construction of the patient experience as part of DNA10K shaped the context for PCP engagement within the program. A cross-sectional analysis of patient consents, orders, tests, and results of nearly 10,000 patients within the primary care specialties of family medicine, internal medicine or obstetrics/gynecology between April 1, 2019 and January 22, 2020 was conducted. RESULTS: Across all specialties, a median number of 7.5 cancer and cardiovascular disease variants per PCP was found. The average age of the study population was 49.6 years. Over 8% of these patients had at least one actionable genetic risk variant and almost 2% of patients had at least one CDC Tier 1 variant. The median numbers of patients per PCP with either hereditary breast and ovarian cancer, Lynch Syndrome, or Familial Hypercholesterolemia was 1 (Interquartile Range 0-2). DISCUSSION: The analysis of test results and the engagement of an integrated healthcare system in the implementation of a genetic screening program suggests that it can have a large impact on population health outcomes and minimal referral burden to PCPs if identified risks can lead to preventive care.


Asunto(s)
Prestación Integrada de Atención de Salud , Atención Primaria de Salud , Estudios Transversales , Pruebas Genéticas , Genética de Población , Humanos , Persona de Mediana Edad
15.
Genet Test Mol Biomarkers ; 25(2): 152-160, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-33596141

RESUMEN

Aims: To explore patient experiences in a large-scale primary care-based, preemptive genetic testing program. Methods: Patients who received genetic results from the initiative were invited to participate in an online survey 3 weeks postresult disclosure. A 6-month follow-up survey was sent to assess changes over time. Results: The initial survey was completed by 1646 patients, with 544 completing the 6-month follow-up survey. The following outcomes were high overall: patient-reported understanding of results (cancer: 87%; cardiac: 86%); perceived utility (75%); positive emotions (relieved: 66.8%; happy: 62.0%); family result sharing (67.6%); and satisfaction (87%), although analysis by demographic factors identified groups who may benefit from additional education and emotional support. Results-related health behaviors and discussions with providers increased over time (screening procedures 6.1% to 14.2% p < 0.001; provider discussion 10.3% to 25.3%, p < 0.001), and were more likely to take place for patients with positive cancer and/or cardiac results (39.8% vs. 7.6%, p < 0.001). Forty-seven percent of patients reported insurance discrimination concerns, and most (79.4%) were not familiar with privacy and nondiscrimination laws. Concerns regarding discrimination and negative emotions decreased between the two survey time points (privacy issues 44.6% to 35.1% p < 0.001; life insurance discrimination concerns 35.5% to 29.6%, p = 0.001; anxiety 8.1% to 3.3%, p < 0.001; and uncertainty 19.8% to 12.8%, p < 0.001). These findings led to the development and integration of additional patient resources to improve program implementation. Conclusion: Our findings highlight patient experiences with and areas of need in a community-based genomic screening pilot initiative using a mixed primary care/genetics provider model to deliver precision medicine.


Asunto(s)
Genética de Población/ética , Alfabetización en Salud/tendencias , Pacientes/psicología , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Pruebas Genéticas/métodos , Pruebas Genéticas/tendencias , Genética de Población/métodos , Genética de Población/tendencias , Conocimientos, Actitudes y Práctica en Salud , Alfabetización en Salud/métodos , Personal de Salud , Humanos , Illinois , Masculino , Persona de Mediana Edad , Medición de Resultados Informados por el Paciente , Medicina de Precisión , Atención Primaria de Salud/tendencias , Encuestas y Cuestionarios , Adulto Joven
16.
J Community Genet ; 11(3): 339-350, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-32020508

RESUMEN

Family health history (FHH) screening plays a key role in disease risk identification and tailored disease prevention strategies. Primary care physicians (PCPs) are in a frontline position to provide personalized medicine recommendations identified through FHH screening; however, adoption of FHH screening tools has been slow and inconsistent in practice. Information is also lacking on PCP facilitators and barriers of utilizing family history tools with clinical decision support (CDS) embedded in the electronic health record (EHR). This study reports on PCPs' initial experiences with the Genetic and Wellness Assessment (GWA), a patient-administered FHH screening tool utilizing the EHR and CDS. Semi-structured interviews were conducted with 24 PCPs who use the GWA in a network of community-based practices. Four main themes regarding GWA implementation emerged: benefits to clinical care, challenges in practice, CDS-specific issues, and physician-recommended improvements. Sub-themes included value in improving patient access to genetic services, inadequate time to discuss GWA recommendations, lack of patient follow-through with recommendations, and alert fatigue. While PCPs valued the GWA's clinical utility, a number of challenges were identified in the administration and use of the GWA in practice. Based on participants' recommendations, iterative changes have been made to the GWA and workflow to increase efficiency, upgrade the CDS process, and provide additional education to PCPs and patients. Future studies are needed to assess a diverse sample of physicians' and patients' perspectives on the utility of FHH screening utilizing EHR-based genomics recommendations.

17.
J Pers Med ; 10(4)2020 Oct 13.
Artículo en Inglés | MEDLINE | ID: mdl-33066060

RESUMEN

The scalable delivery of genomic medicine requires collaboration between genetics and non-genetics providers. Thus, it is essential to investigate and address the perceived value of and barriers to incorporating genetic testing into the clinical practice of primary care providers (PCPs). We used a mixed-methods approach of qualitative interviews and surveys to explore the experience of PCPs involved in the pilot DNA-10K population genetic testing program. Similar to previous research, PCPs reported low confidence with tasks related to ordering, interpreting and managing the results of genetic tests, and identified the need for additional education. PCPs endorsed high levels of utility for patients and their families but noted logistical challenges to incorporating genetic testing into their practice. Overall PCPs were not familiar with the United States' Genetic Information Nondiscrimination Act and they expressed high levels of concern for patient data privacy and potential insurance discrimination. This PCP feedback led to the development and implementation of several processes to improve the PCP experience with the DNA-10K program. These results contribute to the knowledge base regarding genomic implementation using a mixed provider model and may be beneficial for institutions developing similar clinical programs.

18.
Genet Med ; 11(11): 783-9, 2009 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-19752737

RESUMEN

PURPOSE: Simple screening tools are needed to facilitate the appropriate referral of patients for genetic counseling and testing for BRCA1/2 mutations. This study evaluated the reliability and accuracy of a "referral screening tool" designed for rapid identification of individuals at potential hereditary risk for breast/ovarian cancer. METHODS: The referral screening tool was administered to 2464 unselected women undergoing screening mammography. Detailed four-generation cancer pedigrees were collected by telephone interview on a random subset of 296 women. The pedigrees were analyzed using four established hereditary risk models (BRCAPRO, Myriad II, BOADICEA, FHAT), with a > or =10% BRCA1/2 mutation probability or a FHAT score of > or =10 as the definition of "high risk." RESULTS: The referral screening tool identified 6.2% of subjects as screen "positive" (high risk). Concordance of randomly repeated referral screening tools (156 of 2464) was 96% (kappa = 0.75). In comparison with the pedigree analyses, the referral screening tool demonstrated an overall (high risk by any model) sensitivity of 81.2%, specificity of 91.9%, and discriminatory accuracy of 0.87. CONCLUSIONS: Within the population studied, the referral screening tool seems to be a reliable and valid tool to identify individuals who should be referred for consideration of BRCA1/2 testing. Further examination of the referral screening tool in primary care settings is warranted to assess its impact on the efficiency with which health care providers triage patients to cancer genetics services.


Asunto(s)
Neoplasias de la Mama/genética , Pruebas Genéticas/métodos , Neoplasias Ováricas/genética , Encuestas y Cuestionarios , Proteína BRCA1/genética , Proteína BRCA2/genética , Detección Precoz del Cáncer , Femenino , Asesoramiento Genético , Predisposición Genética a la Enfermedad , Humanos , Mamografía
19.
Pharmacogenomics ; 19(4): 321-331, 2018 03.
Artículo en Inglés | MEDLINE | ID: mdl-29469671

RESUMEN

AIM: To assess patient perceptions and utilization of pharmacogenomics (PGx) testing in an integrated community health system. METHODS: Fifty-seven patients completed an online survey assessing their experiences with PGx testing offered through two methods: a designated PGx clinic or direct access in-home testing. RESULTS: The majority of participants perceived PGx testing as helpful in their healthcare and reported understanding their results. Some had concerns about privacy and discrimination; most lacked familiarity with the Genetic Information Nondiscrimination Act. There were no significant differences in views between participants tested through either model. CONCLUSION: Participants reported value in both methods of PGx testing. Patient experiences, understanding and result utilization will play an important role in informing future development and implementation of PGx programs.


Asunto(s)
Atención a la Salud/estadística & datos numéricos , Farmacogenética/estadística & datos numéricos , Pruebas de Farmacogenómica/estadística & datos numéricos , Medicina de Precisión/psicología , Adolescente , Adulto , Planificación en Salud Comunitaria/estadística & datos numéricos , Revelación , Femenino , Pruebas Genéticas/estadística & datos numéricos , Humanos , Masculino , Persona de Mediana Edad , Encuestas y Cuestionarios , Adulto Joven
20.
Pharmacotherapy ; 37(9): 990-999, 2017 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-28672074

RESUMEN

Increased use of pharmacogenomic (PGx) testing in the clinical setting has revealed a number of challenges to providing this service. PGx is an important component of precision medicine that brings together the fields of genetics and clinical pharmacology. A model that incorporates a multidisciplinary approach to implementation and information delivery may be the most beneficial to patients and providers. In this review, translational considerations in the provision of PGx testing and counseling services are described. Specifically, we report on the selection of PGx tests, the provision of patient education and counseling, and examples of PGx service delivery models that incorporate counseling by pharmacists and genetic counselors. Examples of ancillary risks associated with PGx testing, testing of children, and familial implications of testing are reviewed. Through multispecialty partnerships, including genetic counselors and pharmacists, implementation obstacles to PGx testing can be overcome to provide quality precision medicine to patients.


Asunto(s)
Asesoramiento Genético/métodos , Pruebas Genéticas/métodos , Colaboración Intersectorial , Farmacogenética/métodos , Asesoramiento Genético/tendencias , Pruebas Genéticas/tendencias , Humanos , Educación del Paciente como Asunto/métodos , Educación del Paciente como Asunto/tendencias , Farmacogenética/tendencias
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