Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 90
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
Pharmgenomics Pers Med ; 12: 273-285, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31686893

RESUMO

For the past several years, the implementation of pharmacogenetic (PGx) testing has become widespread in several centers and clinical practice settings. PGx testing may be ordered at the point-of-care when treatment is needed or in advance of treatment for future use. The potential benefits of PGx testing are not limited to adult patients, as children are increasingly using medications more often and at earlier ages. This review provides some background on the use of PGx testing in children as well as mothers (prenatally and post-natally) and discusses the challenges, benefits, and the ethical, legal, and social implications of providing PGx testing to children.

2.
Pharmacogenomics ; 20(15): 1103-1112, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31588877

RESUMO

Pharmacogenetic testing can help identify primary care patients at increased risk for medication toxicity, poor response or treatment failure and inform drug therapy. While testing availability is increasing, providers are unprepared to routinely use pharmacogenetic testing for clinical decision-making. Practice-based resources are needed to overcome implementation barriers for pharmacogenetic testing in primary care.The NHGRI's IGNITE I Network (Implementing GeNomics In pracTicE; www.ignite-genomics.org) explored practice models, challenges and implementation barriers for clinical pharmacogenomics. Based on these experiences, we present a stepwise approach pharmacogenetic testing in primary care: patient identification; pharmacogenetic test ordering; interpretation and application of test results, and patient education. We present clinical factors to consider, test-ordering processes and resources, and provide guidance to apply test results and counsel patients. Practice-based resources such as this stepwise approach to clinical decision-making are important resources to equip primary care providers to use pharmacogenetic testing.

3.
PLoS One ; 14(10): e0224283, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31652289

RESUMO

Family health history (FHH) is a key predictor of health risk and is universally important in preventive care. However, patients may not be aware of the importance of FHH, and thus, may fail to accurately or completely share FHH with health providers, thereby limiting its utility. In this study, we conducted an online survey of 294 young adults and employees based at a US university setting regarding their knowledge, sharing behaviors, and perceived importance of FHH, and use of electronic clinical tools to document and update FHH. We also evaluated two educational interventions (written and video) to promote knowledge about FHH and its importance to health. We found that 93% of respondents were highly aware of their FHH, though only 39% reported collecting it and 4% using an online FHH tool. Seventy-three percent of respondents, particularly women, had shared FHH with their doctor when prompted, and fewer had shared it with family members. Participants in the video group were significantly more likely to understand the benefits of FHH than those in the written group (p = 0.02). In summary, educational resources, either video or written, will be helpful to promote FHH collection, sharing, and use of online FHH tools.

4.
Pharmacopsychiatry ; 2019 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-31509860

RESUMO

INTRODUCTION: The use of pharmacogenomic (PGx) testing to guide decisions and improve patient outcomes has increased in recent years. PGx testing represents a decision support tool that may inform dosing, increase the likelihood of treatment response, and identify patients at risk for medication side effects. METHODS: This is a narrative review of utilization of PGx testing in psychiatry from stakeholders including, pharmacists, genetic counselors, implementation scientists, industry, and clinicians. RESULTS: While many limitations exist to streamline use of PGx testing in psychiatry, various stakeholders are crucial to clinical implementation. DISCUSSION: PGx testing can assist in medication selection and improve patient outcomes; however, more data are needed to understand when and how to incorporate PGx testing into psychiatric practice.

5.
Clin Pharmacol Ther ; 106(5): 922-924, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31482575
6.
J Pers Med ; 9(3)2019 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-31266141

RESUMO

The expansion of genetic and genomic testing across medical specialties and the changing workforce demographics of certified genetic counselors (CGCs) have led to concerns of a workforce shortage. We assessed the number of genetic counselors working in the Southern United States-a rural and medically underserved region-using various online and professional resources. We identified 683 practicing genetic counselors across the Southern U.S. and 160 specializing in prenatal genetics. CGCs were concentrated in urban areas; counties with a CGC had a significantly higher proportion of minority residents and median household income than counties without a CGC. There is an average of 2.97 prenatal CGCs per 5000 high-risk births in the South. Alternative delivery models are needed to increase access to counseling services in the Southern U.S., particularly for low income households and those of high risk pregnancies. Increased provider education and patient educational materials can help facilitate informed decision-making in prenatal settings as genetic technologies gain a stronger foothold and bring value to medical practice.

7.
Pharmacogenomics ; 20(9): 625-630, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31250728

RESUMO

Aim: The appropriate use and integration of pharmacogenetic (PGx) testing will pivot on provider preparation and training. Pharmacists have been recognized as one of the key providers in the delivery of PGx testing and as such, professional organizations have recommended inclusion of PGx content in pharmacy curricula. Methods: We reviewed the curriculum of 132 US pharmacy schools for information about PGx courses. Results: A total of 70 core curriculum courses were identified. 55 (42%) pharmacy schools included at least one PGx course as part of the core curriculum, and ten (8%) schools that offered a PGx course elective. Conclusion: While many pharmacy schools have responded to the accreditation standards to include PGx, less than half of the schools have developed a standalone course.

8.
Mol Diagn Ther ; 23(4): 459-466, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31172371

RESUMO

With rapid advances in genetics and genomics, the commercialization and access to new applications has become more widespread and omnipresent throughout biomedical research. Thus, increasingly, more patients will have personal genomic information they may share with primary care providers (PCPs) to better understand the clinical significance of the data. To be able to respond to patient inquiries about genomic data, variant interpretation, disease risk, and other issues, PCPs will need to be able to increase or refresh their awareness about genetics and genomics, and identify reliable resources to use or refer patients. While provider educational efforts have increased, with the rapid advances in the field, ongoing efforts will be needed to prepare PCPs to manage patient needs, integrate results into care, and refer as indicated.

9.
Pharmacogenomics ; 20(8): 581-587, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31190624

RESUMO

Aims: Patients' use of and experience with pharmacogenetic (PGx) testing may be impacted by several factors including patient and provider knowledge, health status, and perceived understanding of results. Materials & Methods: We conducted an online survey of individuals who had subscribed to a newsletter service offered by a US commercial PGx testing company, Genelex. Results: We find that about half of respondents that had PGx testing reviewed one or more of the lab's web-pages, 43% believed they understood the test results very well, but 40% did not know or could not recall whether their provider had changed their prescription based on the test result. Conclusions: There was limited use of the laboratory's online resources by respondents undergoing PGx testing. Increased awareness of the website may improve understanding of test results and facilitate discussions with providers about medication changes.

10.
J Pers Med ; 9(2)2019 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-31137623

RESUMO

Primary care providers (PCPs) will play an important role in precision medicine. However, their lack of training and knowledge about genetics and genomics may limit their ability to advise patients or interpret or utilize test results. We evaluated PCPs' awareness of the role of genetics/genomics in health, knowledge about key concepts in genomic medicine, perception/attitudes towards direct-to-consumer (DTC) genetic testing, and their level of confidence/comfort in discussing testing with patients prior to and after undergoing DTC testing through the 23andMe Health + Ancestry Service. A total of 130 PCPs completed the study. Sixty-three percent were board-certified in family practice, 32% graduated between 1991 and 2000, and 88% had heard of 23andMe prior to the study. Seventy-two percent decided to participate in the study to gain a better understanding about testing. At baseline, 23% of respondents indicated comfort discussing genetics as a risk factor for common diseases, increasing to 59% after undergoing personal genetic testing (PGT) (p < 0.01). In summary, we find that undergoing PGT augments physicians' confidence, comfort, and interest in DTC testing.

11.
Appl Clin Inform ; 10(2): 180-188, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30866001

RESUMO

OBJECTIVE: Investigate sociodemographic differences in the use of a patient-facing family health history (FHH)-based risk assessment platform. METHODS: In this large multisite trial with a diverse patient population, we evaluated the relationship between sociodemographic factors and FHH health risk assessment uptake using an information technology (IT) platform. The entire study was administered online, including consent, baseline survey, and risk assessment completion. We used multivariate logistic regression to model effect of sociodemographic factors on study progression. Quality of FHH data entered as defined as relatives: (1) with age of onset reported on relevant conditions; (2) if deceased, with cause of death and (3) age of death reported; and (4) percentage of relatives with medical history marked as unknown was analyzed using grouped logistic fixed effect regression. RESULTS: A total of 2,514 participants consented with a mean age of 57 and 10.4% minority. Multivariate modeling showed that progression through study stages was more likely for younger (p-value = 0.005), more educated (p-value = 0.004), non-Asian (p-value = 0.009), and female (p-value = 0.005) participants. Those with lower health literacy or information-seeking confidence were also less likely to complete the study. Most significant drop-out occurred during the risk assessment completion phase. Overall, quality of FHH data entered was high with condition's age of onset reported 87.85%, relative's cause of death 85.55% and age of death 93.76%, and relative's medical history marked as unknown 19.75% of the time. CONCLUSION: A demographically diverse population was able to complete an IT-based risk assessment but there were differences in attrition by sociodemographic factors. More attention should be given to ensure end-user functionality of health IT and leverage electronic medical records to lessen patient burden.

12.
Circ Genom Precis Med ; 11(9): e002228, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30354330

RESUMO

BACKGROUND: Outcomes of tailoring statin-type based on solute carrier organic anion transporterfamily member 1B1 ( SLCO1B1)pharmacogenetic toxicity information on patient, provider, and pharmacological outcomes are unknown. METHODS: The trial randomized 159 patients not taking statins because of prior statin myalgia 1:1 to receiving SLCO1B1 GIST (Genotype Informed Statin Therapy) versus usual care (UC) and followed for up to 8 months. The UC arm received their SLCO1B1 results post-trial. The primary outcome was statin adherence using the Morisky Medication Adherence Scale, which was assessed in those patients who reinitiated statins. Secondary outcomes assessed in all participants included statin reinitiation and LDLc (low-density lipoprotein cholesterol), within and post-trial. Using commercial laboratory data, serial LDLc were compared between 1907 patients receiving SLCO1B1 testing and propensity-matched, untested controls. RESULTS: Trial participants were 25% SLCO1B1*5 carriers. Statin adherence was similar between arms (Morisky Medication Adherence Scale in GIST versus UC, 6.8±1.5 versus 6.9±1.6, P=0.96). GIST led to more new statin prescriptions (55.4% versus 38.0%, P=0.04) and lower LDLc at 3 months (131.9±42.0 versus 144.4±43.0 mg/dL; P=0.048) with similar magnitude at 8 months (128.6±37.9 versus 141.0±44.4; P=0.12). SLCO1B1*5 carriers exhibited a greater drop in LDLc with GIST versus UC (interaction P=0.048). Post-trial, LDLc decreased in UC participants who crossed over to GIST compared with those allocated to GIST (-14.9±37.8 versus +9.0±37.3 mg/dL, P=0.03). Patients tested for SLCO1B1 though a commercial laboratory had a greater LDLc decrease ( P=0.04) compared with controls. CONCLUSIONS: Delivery of SLCO1B1 pharmacogenetic testing that addresses statin myalgia improved statin reinitiation and LDLc but did not improve self-reported statin adherence. CLINICAL TRIAL REGISTRATION: URL: https://www.clinicaltrials.gov . Unique identifier: NCT01894230.


Assuntos
Doenças Cardiovasculares/tratamento farmacológico , Inibidores de Hidroximetilglutaril-CoA Redutases/administração & dosagem , Transportador 1 de Ânion Orgânico Específico do Fígado/genética , Testes Farmacogenômicos/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/genética , LDL-Colesterol/sangue , Feminino , Genótipo , Humanos , Masculino , Adesão à Medicação/estatística & dados numéricos , Pessoa de Meia-Idade , /estatística & dados numéricos , Medicina de Precisão/métodos , Adulto Jovem
13.
Pharmgenomics Pers Med ; 11: 139-146, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30214267

RESUMO

Introduction: Pharmacogenetic (PGx) testing is a leading application for personalized and precision medicine; however, there are barriers, including limited provider and patient understanding, which affect its uptake. There is a need for tools that can enhance the patient and provider experience with testing and promoting the shared and informed decision-making. Materials and methods: In this study, we sought to gather additional feedback on a PGx toolkit comprised of four educational tools that had been previously evaluated through an online survey by pharmacists. Specifically, we conducted semi-structured interviews with pharmacists and members of the public regarding their understanding and utility of the toolkit and its individual components. Results: Participants found three of the four toolkit components, a test information sheet, flipbook, and results sheet, to be useful and important. The fourth component, results card, was viewed less favorably. Participants differed in their preference for medical jargon and detailed results nomenclature (namely star * alleles). Conclusion: User input during the development of educational materials is essential for optimizing utilization, effectiveness, and comprehension.

14.
Health Aff (Millwood) ; 37(5): 717-723, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29733708

RESUMO

Pharmacogenetic (PGx) testing involves the analysis of genes known to affect response to medications. The field has been projected as a leading application of personalized or precision medicine, but the use of PGx tests has been stymied, in part, by the lack of clinical evidence of utility and reported low provider awareness. Another factor is the availability of testing. The range and types of PGx tests available have not been assessed to date. In the period September 2017-January 2018 we analyzed the numbers and types of PGx tests offered by clinical testing laboratories in the US. Of the 111 such labs that we identified, we confirmed that 76 offered PGx testing services. Of these, 31 offered only tests for single genes; 30 offered only tests for multiple genes; and 15 offered both types of tests. Collectively, 45 laboratories offered 114 multigene panel tests covering 295 genes. The majority of these tests did not have any clinical guidelines. PGx tests vary in type and makeup, which presents challenges in appropriate test evaluation and selection for providers, insurers, health systems, and patients alike.


Assuntos
Serviços de Laboratório Clínico/organização & administração , Testes Genéticos/métodos , Gastos em Saúde , Farmacogenética/métodos , Medicina de Precisão/métodos , Estudos Transversais , Feminino , Predisposição Genética para Doença/genética , Testes Genéticos/economia , Humanos , Masculino , Farmacogenética/economia , Medicina de Precisão/economia , Estados Unidos
15.
Pharmacogenomics ; 18(17): 1589-1594, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29061078

RESUMO

Pharmacogenetic testing is leading the personalized health movement, gradually being implemented in a variety of healthcare settings. To inform the efforts of other hospital and clinical practices implementing personalized health or medicine applications, we describe the implementation of a newborn pharmacogenetic testing program at Inova Health System (VA, USA). In particular, we describe the efforts to gather patient feedback through focus groups, the training and program staff, the pilot program and our experiences to date. In our experience, a multidisciplinary team was essential to address the myriad facets of program development and implementation as well as an in-person approach to introduce testing and patient education.


Assuntos
Medicina de Precisão/métodos , Assistência à Saúde/métodos , Família , Hospitais , Humanos , Educação de Pacientes como Assunto/métodos , Testes Farmacogenômicos/métodos
16.
Genet Test Mol Biomarkers ; 21(12): 717-721, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29045186

RESUMO

The use of sequencing technologies has greatly expanded in both research and clinical settings. The generation of voluminous datasets has raised several issues regarding data sharing and access. Current regulations require clinical laboratories and some research laboratories to provide access to test data, including sequencing data, directly to patients upon request. There is some controversy over whether this access right may be somewhat broader, encompassing research data as well-a question beyond the scope of this article. It is clear that in the research setting, deposition of sequencing data into public or private databases often occurs, although little information exists about the return of data files to research participants (in contrast to the extensive deliberations regarding return of results). Thus, further consideration of the issue of access to data files is warranted as well as more effort to understand both patients' and research participants' use of the data.


Assuntos
Pesquisa em Genética/ética , Análise de Sequência de DNA/ética , Confidencialidade , Genômica/ética , Humanos , Achados Incidentais , Disseminação de Informação/ética , Consentimento Livre e Esclarecido , Sujeitos da Pesquisa , Medição de Risco/métodos
19.
J Pers Med ; 7(2)2017 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-28587070

RESUMO

As few patient-friendly resources about pharmacogenetics are currently available, we aimed to create and assess a patient educational video on pharmacogenetic testing. A primary literature and resources review was conducted to inform the content and the format of the video. The educational video was then created using a commercially available animation program and pilot tested in focus groups of the general public and by an online survey of pharmacists. Emerging themes from the focus groups and survey indicate a desire for appropriate risk contextualization and specific examples when pharmacogenetic testing may be beneficial. Focus group participants also expressed a preference for a video with live action, and more text to reinforce concepts. Pharmacists generally felt that the video was understandable for patients and relevant for decision-making regarding testing. Using this initial feedback and the identification of important concepts to include in pharmacogenetics educational tools, we plan to revise the video, perform additional evaluations, and publish the video for public use in the future.

20.
Pharmacogenomics ; 18(4): 327-335, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28244804

RESUMO

AIM: To describe the rationale and design of a study evaluating the delivery of pharmacogenetic (PGx) testing in community pharmacies. Study rationale: Pharmacists have expressed interest in offering PGx testing; however, their lack of knowledge and experience, patients' acceptance and feasibility are unknown in this setting. STUDY DESIGN: Through a cluster randomized trial, we will assess pharmacist and patient experiences with delivery of PGx testing as a standalone service or integrated into medication therapy management services. Anticipated results: We anticipate that PGx testing can be delivered in a community pharmacy setting and accepted and valued by patients. CONCLUSION: This study is expected to provide valuable evidence about the real-world feasibility and acceptance of a community pharmacist-delivered approach of PGx testing.


Assuntos
Serviços Comunitários de Farmácia , Farmacêuticos , Testes Farmacogenômicos/métodos , Papel Profissional , Análise por Conglomerados , Estudos de Viabilidade , Seguimentos , Humanos , Medicina de Precisão/métodos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA