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1.
BMJ Nutr Prev Health ; 7(1): 119-127, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38966120

RESUMO

Introduction: Multiple eating patterns can promote glycaemic control and weight loss among patients with type 2 diabetes mellitus (T2D). Clinical practice guidelines for T2D management encourage health professionals to guide patients' selection of a patient-centred eating pattern. This study aims to characterise beliefs about and recommendations for and against practice guideline-concordant eating patterns among registered dietitians (RDs) and other healthcare professionals who provide nutrition counselling to patients with T2D. Methods: This was a cross-sectional online survey. We invited 82 RDs affiliated with an academic health system in the midwestern USA to participate. We also invited health professionals who provide nutrition counselling to patients with T2D and are affiliated with 264 primary care practices within the Michigan Collaborative for Type 2 Diabetes. Participants were asked to select the eating pattern(s) that they commonly recommend or avoid for patients with T2D and why. Results: Survey respondents (n=81) most commonly recommend low-carbohydrate (77.8%); Mediterranean-style (52.8%) and energy-modified/calorie-restricted (36.1%) eating patterns. Survey respondents most commonly recommend avoiding very low-carbohydrate (51.0%) and very low-calorie (49.0%) eating patterns. Respondents who did not recommend very low-carbohydrate were most concerned about the eating pattern being too restrictive (93.0%). Conclusions: Survey respondents recommend a range of guideline-adherent eating patterns to patients with T2D but tend to recommend against very low-carbohydrate and very low-calorie eating patterns. Additional strategies are needed to increase patient-centred use of these evidence-based options in clinical practice settings.

2.
Sci Rep ; 12(1): 11284, 2022 07 04.
Artigo em Inglês | MEDLINE | ID: mdl-35788667

RESUMO

The objective of this pilot clinical study was to identify salivary biomarkers that are associated with periodontal disease and measures of diabetic autonomic dysfunction. Saliva samples from 32 participants were obtained from 3 groups: healthy (H), type 1 diabetes mellitus (DM), and type 1 diabetes mellitus with neuropathy (DMN). Based on the periodontal examination, individuals' mean Periodontal Screening and Recording scores were categorized into two groups (periodontally healthy and gingivitis), and correlated to specific salivary inflammatory biomarkers assessed by a customized protein array and enzyme assay. The mean salivary IgA level in DM was 9211.5 ± 4776.4 pg/ml, which was significantly lower than H (17,182.2 ± 8899.3 pg/ml). IgA in DMN with healthy periodontium was significantly lower (5905.5 ± 3124.8 pg/ml) compared to H, although IgA levels in DMN patients with gingivitis (16,894. 6 ± 7084.3) were not. According to the result of a logistic regression model, IgA and periodontal condition were the indicators of the binary response given by H versus DM, and H versus DMN, respectively. These data suggest that selected salivary biomarkers, such as IgA, combined with a periodontal examination prior to obtaining salivary samples can offer a non-invasive method to assess risk for developing diabetic neuropathy.


Assuntos
Diabetes Mellitus Tipo 1 , Neuropatias Diabéticas , Gengivite , Doenças Periodontais , Periodontite , Biomarcadores/metabolismo , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/metabolismo , Neuropatias Diabéticas/complicações , Neuropatias Diabéticas/etiologia , Gengivite/complicações , Humanos , Imunoglobulina A/metabolismo , Doenças Periodontais/metabolismo , Periodontite/complicações , Periodontite/diagnóstico , Periodontite/metabolismo , Saliva/metabolismo
3.
J Voice ; 36(1): 21-26, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32482492

RESUMO

PURPOSE: Acoustic analysis is a commonly used method for quantitatively measuring vocal fold function. The accuracy of acoustic analysis depends upon the operator selecting a stable segment of the voice sample to analyze. This paper proposes a novel method to more accurately and reliably select a stable voice segment. STUDY DESIGN: Four selection methods were implemented to evaluate each raw audio signal and determine the most stable segment of each signal: The proposed modal periodogram method, the moving window method, the midvowel method, and the whole vowel method. Acoustic parameters of interest-namely perturbation (jitter), correlation dimension (D2), and spectrum convergence ratio (SCR)-were calculated for 48 phonation samples to evaluate each method. METHODS: The proposed modal periodogram method utilizes a minimum mean-square error based approach to calculate a stable modal periodogram and obtain the most stable segment. The Wilcoxon Signed-Rank test was used to compare jitter, D2, and SCR values acquired using the modal periodogram method against the current standard segment selection methods. RESULTS: The modal periodogram method yielded significantly lower D2 values, and a significantly higher SCR for both normal and disordered voice samples (P < 0.01). This indicates that the modal periodogram method is more apt for selecting a stable audio segment than the other selection methods.


Assuntos
Acústica da Fala , Voz , Acústica , Humanos , Fonação , Probabilidade
4.
Int J Mol Sci ; 22(14)2021 Jul 13.
Artigo em Inglês | MEDLINE | ID: mdl-34299132

RESUMO

Cellular agriculture is an emerging scientific discipline that leverages the existing principles behind stem cell biology, tissue engineering, and animal sciences to create agricultural products from cells in vitro. Cultivated meat, also known as clean meat or cultured meat, is a prominent subfield of cellular agriculture that possesses promising potential to alleviate the negative externalities associated with conventional meat production by producing meat in vitro instead of from slaughter. A core consideration when producing cultivated meat is cell sourcing. Specifically, developing livestock cell sources that possess the necessary proliferative capacity and differentiation potential for cultivated meat production is a key technical component that must be optimized to enable scale-up for commercial production of cultivated meat. There are several possible approaches to develop cell sources for cultivated meat production, each possessing certain advantages and disadvantages. This review will discuss the current cell sources used for cultivated meat production and remaining challenges that need to be overcome to achieve scale-up of cultivated meat for commercial production. We will also discuss cell-focused considerations in other components of the cultivated meat production workflow, namely, culture medium composition, bioreactor expansion, and biomaterial tissue scaffolding.


Assuntos
Técnicas de Cultura de Células/veterinária , Abastecimento de Alimentos/métodos , Carne/provisão & distribuição , Células Satélites de Músculo Esquelético/citologia , Células-Tronco/citologia , Engenharia Tecidual/métodos , Animais , Técnicas de Cultura de Células/métodos
5.
J Diabetes Complications ; 35(8): 107949, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34024686

RESUMO

AIMS: Sodium-glucose cotransporter-2 (SGLT-2) inhibitors reduce blood pressure without compensatory heart rate elevation, possibly by modulating sympathetic/parasympathetic activity. This may contribute to their cardiovascular benefits in type 2 diabetes (T2D). We evaluated the effects of dapagliflozin (DAPA) on measures of cardiovascular autonomic neuropathy (CAN), cardiac function, and glucose variability (GV) in T2D. METHODS: Pilot, randomized, two-period crossover trial comparing 12-week DAPA versus 12-week glimepiride treatment on CAN measures (cardiovascular autonomic reflex tests and heart rate variability), B-type natriuretic peptide (BNP), and GV (Abbott's Libre Pro devices) using signed rank tests and mixed models from baseline to 12 weeks within and between each period. RESULTS: Forty-five T2D participants on metformin monotherapy (mean age 57 ±â€¯8 years, duration 7 ±â€¯6 years, HbA1c 7.8 ±â€¯1.3%) were enrolled with 41 completing the trial. There were no differences in CAN indices or BNP with each drug compared to baseline and each other. Participants on DAPA demonstrated greater weight loss, reduced time in hypoglycemia, and improved GV compared to glimepiride. CONCLUSIONS: Short term treatment with DAPA did not affect CAN measures or BNP in uncomplicated and relatively healthy T2D participants. Longer prospective studies in patients with advanced disease are needed to better understand relationships between SGLT-2 inhibitors and CAN. CLINICAL TRIAL REGISTRATION: NCT02973477.


Assuntos
Compostos Benzidrílicos/uso terapêutico , Doenças Cardiovasculares/tratamento farmacológico , Diabetes Mellitus Tipo 2 , Neuropatias Diabéticas/tratamento farmacológico , Glucosídeos/uso terapêutico , Idoso , Glicemia , Doenças Cardiovasculares/prevenção & controle , Estudos Cross-Over , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/tratamento farmacológico , Neuropatias Diabéticas/prevenção & controle , Hemoglobinas Glicadas , Humanos , Hipoglicemiantes/uso terapêutico , Pessoa de Meia-Idade , Estudos Prospectivos , Resultado do Tratamento
6.
Altern Lab Anim ; 48(2): 78-84, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32441126

RESUMO

Thoracocentesis, a procedure in which air or fluid is removed from the pleural space, is used to relieve respiratory distress, and as a diagnostic procedure in human and veterinary medicine. Veterinary students commonly learn and practice the procedure on canine cadavers which are in limited supply and are not amenable to long-term storage and use. Practicing thoracocentesis on a cadaveric model also provides limited feedback indicative of success and/or procedural complications. One commercial model for practicing canine thoracocentesis is available, but it costs over US$2000 and is excessively bulky. In order to improve the learning process for veterinary students, we have developed a reusable synthetic canine thorax model that accurately replicates the thoracocentesis procedure, provides immediate feedback to the students and reduces the need for canine cadavers. The low cost of our product provides an efficient alternative to cadavers for instruction in veterinary schools or hospitals.


Assuntos
Educação em Veterinária , Toracentese , Animais , Cadáver , Cães , Humanos , Estudantes
7.
Chem Senses ; 44(8): 639-648, 2019 10 17.
Artigo em Inglês | MEDLINE | ID: mdl-31363734

RESUMO

Olfactory sensory deprivation induces anosmia and reduces tyrosine hydroxylase and dopamine levels in the olfactory bulb. The behavioral consequences specific to the loss of olfactory bulb dopamine are difficult to determine because sensory deprivation protocols are either confounded by side effects or leave the animal anosmic. A new method to both induce sensory deprivation and to measure the behavioral and circuit consequences is needed. We developed a novel, recoverable anosmia protocol using nasal lavage with a dilute detergent solution. Detergent treatment did not damage the olfactory epithelium as measured by scanning electron microscopy, alcian blue histology, and acetylated tubulin immunohistochemistry. One treatment-induced anosmia that lasted 24 to 48 h. Three treatments over 5 days reduced olfactory bulb tyrosine hydroxylase and dopamine levels indicating that anosmia persists between treatments. Importantly, even with multiple treatments, olfactory ability recovered within 48 h. This is the first report of a sensory deprivation protocol that induces recoverable anosmia and can be paired with biochemical, histological, and behavioral investigations of olfaction.


Assuntos
Detergentes/farmacologia , Transtornos do Olfato/induzido quimicamente , Bulbo Olfatório/efeitos dos fármacos , Mucosa Olfatória/efeitos dos fármacos , Olfato/efeitos dos fármacos , Animais , Dopamina/metabolismo , Feminino , Imuno-Histoquímica , Masculino , Camundongos , Transtornos do Olfato/metabolismo , Transtornos do Olfato/fisiopatologia , Bulbo Olfatório/anatomia & histologia , Bulbo Olfatório/metabolismo , Mucosa Olfatória/anatomia & histologia , Mucosa Olfatória/metabolismo , Privação Sensorial/fisiologia , Olfato/fisiologia , Tirosina 3-Mono-Oxigenase/antagonistas & inibidores , Tirosina 3-Mono-Oxigenase/metabolismo
8.
Fam Cancer ; 18(3): 317-325, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30729418

RESUMO

A subset of colorectal cancer (CRC) cases are attributable to Lynch syndrome (LS), a hereditary form of CRC. Effective evaluation for LS can be done on CRC tumors to guide diagnostic testing. Increased diagnosis of LS allows for surveillance and risk reduction, which can mitigate CRC-related burden and prevent cancer-related deaths. We evaluated participation in LS screening among newly diagnosed adult CRC patients. Some cases were referred for genetics evaluation prior to study recruitment (selective screening). Those not referred directly were randomized to the intervention or control (usual care) arms. Control cases were observed for one year, then given information about LS screening. Patients who declined participation were followed through the medical record. Of 601 cases of CRC, 194 (32%) enrolled in our study and were offered LS screening, 43 (7%) were followed as a control group, 148 (25%) declined participation and 216 (36%) were ineligible [63 (10%) of which received prior selective screening]. Six and nine cases of LS were identified through the intervention and selective screening groups, respectively. Overall, a higher proportion of PMS2 variants were identified in the intervention (3/6, 50%) versus selective screening groups (2/9, 22%) (not statistically significant). Eighty-eight percent and 23% of intervention and control patients, respectively, received LS screening. No control patients were found to have LS. Systems-based approaches are needed to ensure we fully identify LS cases. The proportion of LS cases from this program was 4% of newly diagnosed cases of CRC, similar to other programs.


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Testes Genéticos , Desenvolvimento de Programas , Encaminhamento e Consulta/organização & administração , Idoso , Neoplasias Colorretais Hereditárias sem Polipose/genética , Proteínas de Ligação a DNA/genética , Feminino , Testes Genéticos/estatística & dados numéricos , Humanos , Masculino , Programas de Rastreamento/organização & administração , Programas de Rastreamento/estatística & dados numéricos , Pessoa de Meia-Idade , Endonuclease PMS2 de Reparo de Erro de Pareamento/genética , Proteína 1 Homóloga a MutL/genética , Proteína 2 Homóloga a MutS/genética , Encaminhamento e Consulta/estatística & dados numéricos
9.
Artigo em Inglês | MEDLINE | ID: mdl-31890059

RESUMO

BACKGROUND: Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome. This study assesses trends in diagnosis of LS and adherence to recommended LS-related care in a large integrated healthcare organization (~ 575,000 members). METHODS: Electronic medical record (EMR) data (1999-2015) were examined to identify patients with a diagnosis of LS. We examined their LS-associated care recommendations and adherence to these recommendations. Qualitative patient and provider interviews were conducted with the aim of identifying opportunities for improved care delivery. RESULTS: We identified 74 patients with a diagnosis of LS; 64% were diagnosed with a LS-related malignancy prior to their diagnosis of LS. The time to LS diagnosis following development of a LS-related cancer decreased over time: before 2009 11% of individuals received a diagnosis of LS within 1 year of developing a LS-related cancer compared to 83% after 2009 (p < 0.0001). Colonoscopy recommendations were documented in the EMR for almost all patients with LS (96%). Documentation of other recommendations for cancer surveillance was less commonly found. Overall, patient adherence to colonoscopy was high (M = 81.5%; SD = 32.7%), and adherence to other recommendations varied. To improve care coordination, patients and providers suggested providing automated reminder prompts for LS-related surveillance, adding a LS-specific diagnosis code, and providing guidelines for LS-related surveillance in the EMR. CONCLUSIONS: We identified fewer than expected patients with LS in our large care system, indicating that there is still a diagnostic care gap. However, patients with LS were likely to receive and follow CRC surveillance recommendations. Recommendations for and adherence to extracolonic surveillance were variable. Improved care coordination and clearer documentation of the LS diagnosis is needed.

10.
J Voice ; 33(5): 611-619, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30146235

RESUMO

OBJECTIVE: The objective of this study was to quantitatively measure the three-dimensional (3D) structure of the vocal folds in normal subjects and in patients with different types of cricoarytenoid dislocation. We will analyze differences in parameters between the groups and also determine if any morphologic parameters possess utility in distinguishing the type and the degree of cricoarytenoid dislocation. STUDY DESIGN: This retrospective study was conducted using university hospital data. METHODS: Subjects' larynges were scanned using dual-source computed tomography (CT). The normal subjects were divided into deep-inhalation and phonation groups, and patients with cricoarytenoid joint dislocation were divided into anterior-dislocation and posterior-dislocation groups. Membranous vocal fold length and width were measured directly on the thin-section CT images. Vocal fold and airway 3D models were constructed using Mimics software and used in combination to measure vocal fold thickness, subglottal convergence angle, and oblique angle of the vocal folds. RESULTS: The phonation group displayed a greater vocal fold width, greater oblique angle, thinner vocal folds, and a smaller subglottal convergence angle than those of the deep-inhalation group (P < 0.05). The anterior-dislocation group displayed a smaller oblique angle and subglottal convergence angle than the posterior-dislocation group (P < 0.05). CONCLUSIONS: The 3D structure of the vocal folds during deep inhalation and phonation can be accurately measured using dual-source CT and laryngeal 3D reconstruction. As the anterior-dislocation group yielded negative values for the oblique angle and the posterior-dislocation group yielded positive values, the oblique angle of the vocal folds may possess utility for distinguishing the type and for quantitatively determining the degree of cricoarytenoid dislocation.


Assuntos
Cartilagem Aritenoide/diagnóstico por imagem , Cartilagem Cricoide/diagnóstico por imagem , Imageamento Tridimensional , Luxações Articulares/diagnóstico por imagem , Articulações/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Prega Vocal/diagnóstico por imagem , Adulto , Cartilagem Aritenoide/fisiopatologia , Cartilagem Cricoide/fisiopatologia , Feminino , Humanos , Inalação , Luxações Articulares/fisiopatologia , Articulações/fisiopatologia , Masculino , Pessoa de Meia-Idade , Modelagem Computacional Específica para o Paciente , Fonação , Valor Preditivo dos Testes , Estudos Retrospectivos , Prega Vocal/fisiopatologia
11.
Clin Case Rep ; 6(11): 2092-2095, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30455898

RESUMO

A research study utilizing whole-genome sequence analysis for preconception carrier screening provided a genome-first detection of a severe de novo Factor VIII mutation in a woman with implications for pregnancy management and life-saving interventions of her newborn son, and a challenge to the existing paradigm regarding carrier testing.

12.
Artigo em Inglês | MEDLINE | ID: mdl-29760830

RESUMO

BACKGROUND: Patients with a genetic variant associated with Lynch syndrome (LS) are recommended to undergo frequent and repeated cancer surveillance activities to minimize cancer-related morbidity and mortality. Little is known about how patients and primary care providers (PCPs) track and manage these recommendations. We conducted a small exploratory study of patient and PCP experiences with recommended LS surveillance activities and communication with family members in an integrated health care system. METHODS: We used in-depth interviews with patients and providers to understand how surveillance is coordinated and monitored following confirmation of LS. We recruited patients with a range of ages/gender, and providers with at least at least one patient with a molecular diagnosis of LS. All interviews were recorded, transcribed, and content analyzed by a trained qualitative methodologist. RESULTS: Twenty-two interviews were completed with 12 patients and 10 providers. Most patients (10) had detailed knowledge of surveillance recommendations, but were less sure of time intervals. While all patients reported receiving initial education about their surveillance recommendations from a genetic counselor, seven did not follow-up with a genetic counselor in subsequent years. A third of patients described taking sole responsibility for managing their LS surveillance care. Lack of routine communication from the health system (e.g., prompts for surveillance activities), and provider engagement were surveillance barriers. PCPs were generally aware of LS, but had limited familiarity with surveillance recommendations. Most PCPs (7) viewed LS as rare and relied on patient and specialist expertise and support. Providers typically had 1 patient with LS in a panel of 1800 patients overall. Providers felt strongly that management of LS should be coordinated by a dedicated team of specialists. Most patients (92%) had at least one family member that sought LS testing, and common barriers for family members included lack of insurance, affordability, and fear of result. CONCLUSION: The maximal benefits of screening for confirmation of LS will only be realized with adherence to recommended preventive care. Important factors to ensure patients receive recommended LS care include a comprehensive and coordinated monitoring program that includes reminder prompts, and increased PCP education of LS and associated surveillance recommendations.

13.
Health Aff (Millwood) ; 37(5): 809-816, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29733724

RESUMO

Genomics-based carrier screening is one of many opportunities to use genomic information to inform medical decision making, but clinicians, health care delivery systems, and payers need to determine whether to offer screening and how to do so in an efficient, ethical way. To shed light on this issue, we conducted a study in the period 2014-17 to inform the design of clinical screening programs and guide further health services research. Many of our results have been published elsewhere; this article summarizes the lessons we learned from that study and offers policy insights. Our experience can inform understanding of the potential impact of expanded carrier screening services on health system workflows and workforces-impacts that depend on the details of the screening approach. We found limited patient or health system harms from expanded screening. We also found that some patients valued the information they learned from the process. Future policy discussions should consider the value of offering such expanded carrier screening in health delivery systems with limited resources.


Assuntos
Tomada de Decisão Clínica/métodos , Atenção à Saúde/organização & administração , Triagem de Portadores Genéticos/métodos , Doenças Genéticas Inatas/diagnóstico , Genômica , Triagem Neonatal/métodos , Feminino , Doenças Genéticas Inatas/epidemiologia , Pesquisa sobre Serviços de Saúde , Humanos , Recém-Nascido , Masculino , Cuidado Pré-Concepcional/métodos , Gravidez , Saúde Reprodutiva , Medição de Risco , Estados Unidos
14.
Am J Hum Genet ; 102(6): 1078-1089, 2018 06 07.
Artigo em Inglês | MEDLINE | ID: mdl-29754767

RESUMO

Advances in sequencing technologies permit the analysis of a larger selection of genes for preconception carrier screening. The study was designed as a sequential carrier screen using genome sequencing to analyze 728 gene-disorder pairs for carrier and medically actionable conditions in 131 women and their partners (n = 71) who were planning a pregnancy. We report here on the clinical laboratory results from this expanded carrier screening program. Variants were filtered and classified using the latest American College of Medical Genetics and Genomics (ACMG) guideline; only pathogenic and likely pathogenic variants were confirmed by orthologous methods before being reported. Novel missense variants were classified as variants of uncertain significance. We reported 304 variants in 202 participants. Twelve carrier couples (12/71 couples tested) were identified for common conditions; eight were carriers for hereditary hemochromatosis. Although both known and novel variants were reported, 48% of all reported variants were missense. For novel splice-site variants, RNA-splicing assays were performed to aid in classification. We reported ten copy-number variants and five variants in non-coding regions. One novel variant was reported in F8, associated with hemophilia A; prenatal testing showed that the male fetus harbored this variant and the neonate suffered a life-threatening hemorrhage which was anticipated and appropriately managed. Moreover, 3% of participants had variants that were medically actionable. Compared with targeted mutation screening, genome sequencing improves the sensitivity of detecting clinically significant variants. While certain novel variant interpretation remains challenging, the ACMG guidelines are useful to classify variants in a healthy population.


Assuntos
Técnicas de Laboratório Clínico , Testes Genéticos/métodos , Cuidado Pré-Concepcional , Sequenciamento Completo do Genoma , Variações do Número de Cópias de DNA/genética , Doença/genética , Feminino , Predisposição Genética para Doença , Haplótipos/genética , Heterozigoto , Humanos , Íntrons/genética , Masculino , Mutação/genética , Gravidez , Splicing de RNA/genética , RNA Mensageiro/genética , RNA Mensageiro/metabolismo
15.
J Genet Couns ; 27(4): 823-833, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29423569

RESUMO

Advances in technology and the promise of personalized health care are driving greater use of genome sequencing (GS) for a variety of clinical scenarios. As health systems consider adopting GS, they need to understand the impact of GS on the organization and cost of care. While research has documented a dramatic decrease in the cost of sequencing and interpreting GS, few studies have examined how GS impacts genetic counseling workloads. This study examined the time needed to provide genetic counseling for GS in the context of preconception carrier screening. Genetic counselors prospectively reported on the time spent in the results disclosure process with 107 study participants who were part of the NextGen study. We found that the median time for results disclosure was 64 min (ranged from 5 to 229 min). Preparation work was the most time-consuming activity. Qualitative data from journal entries, debrief interviews with genetic counselors, and detailed case conference notes provided information on factors influencing time for results disclosure and implications for practice. Results suggest that expanded carrier screening could require significant increases in genetic counseling time, unless we are able to generate new resources to reduce preparation work or develop other strategies such as the creation of new models to deliver this type of service.


Assuntos
Aconselhamento Genético/economia , Cuidado Pré-Concepcional , Fatores de Tempo , Adulto , Feminino , Humanos , Masculino , Gravidez
16.
J Genet Couns ; 26(5): 971-979, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28315134

RESUMO

Genomic carrier screening can identify more disease-associated variants than existing carrier screening methodologies, but its utility from patients' perspective is not yet established. A randomized controlled trial for preconception genomic carrier screening provided an opportunity to understand patients' decisions about whether to accept or decline testing. We administered a survey to potential genomic carrier screening recipients who declined participation (N = 240) to evaluate their reasons for doing so. Two thirds of women declined participation. We identified major themes describing reasons these individuals declined to participate; the most common were time limitation, lack of interest, not wanting to know the information, and potential cause of worry or anxiety. Most women eligible for genomic carrier screening indicated that their reasons for opting out were due to logistical issues rather than opposing the rationale for testing. As expanded carrier screening and genomic sequencing become a more routine part of clinical care, it is anticipated there will be variable uptake from individuals for this testing. Thus, the advancement of clinical carrier screening from single genes, to expanded screening panels, to an exome- or genome-wide platform, will require approaches that respect individual choice to receive genetic testing for reproductive risk assessment.


Assuntos
Triagem de Portadores Genéticos/métodos , Aconselhamento Genético/psicologia , Testes Genéticos/métodos , Cuidado Pré-Concepcional/métodos , Adulto , Tomada de Decisões , Serviços de Planejamento Familiar/métodos , Feminino , Aconselhamento Genético/métodos , Humanos , Masculino , Inquéritos e Questionários
17.
Fam Cancer ; 16(3): 377-387, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28176204

RESUMO

Universal screening for Lynch syndrome (LS) among all cases of colorectal cancer (CRC) could increase the diagnosis of LS and reduce morbidity and mortality of LS-associated cancers. Given universal screening includes all patients, irrespective of high risk factors such early age at onset or family history of CRC, it is important to understand perspectives of all patients and not just those at high risk. As part of a study to assess the feasibility and implementation of universal screening, 189 patients newly diagnosed with CRC were surveyed about their interest in screening for LS and communication of results with at-risk family members. Overall, participants responded positively regarding screening for LS, with most wanting to know their genetic risks in general (86%) and risk of hereditary CRC (93%). Prior to receiving screening results, most participants stated they intended to share their screening results with parents (89%), siblings (96%), and children (96%). Of the 28 participants who received a positive LS screening result, 26 (93%) reported sharing their result with at least one first-degree family member. Interest in screening for LS and communication of screening results with family members was not associated with high risk factors. This study indicates that patients are interested in being screened for LS and that sharing information on the risk of LS with at-risk family members is not a significant barrier. These findings provide novel insight into patient perspectives about screening for LS and can guide successful implementation of universal screening programs.


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais/genética , Predisposição Genética para Doença/psicologia , Programas de Rastreamento/psicologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Colorretais Hereditárias sem Polipose/genética , Família/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários
18.
Genet Med ; 19(7): 803-808, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28079899

RESUMO

PURPOSE: We investigated the use of genome sequencing for preconception carrier testing. Genome sequencing could identify one or more of thousands of X-linked or autosomal recessive conditions that could be disclosed during preconception or prenatal counseling. Therefore, a framework that helps both clinicians and patients understand the possible range of findings is needed to respect patient preferences by ensuring that information about only the desired types of genetic conditions are provided to a given patient. METHODS: We categorized gene-condition pairs into groups using a previously developed taxonomy of genetic conditions. Patients could elect to receive results from these categories. A Return of Results Committee (RORC) developed inclusion and exclusion criteria for each category. RESULTS: To date, the RORC has categorized 728 gene-condition pairs: 177 are categorized as life span-limiting, 406 are categorized as serious, 93 are categorized as mild, 41 are categorized as unpredictable, and 11 are categorized as adult-onset. An additional 64 gene-condition pairs were excluded from reporting to patients or put on a watch list, generally because evidence that a gene and condition were associated was limited. CONCLUSION: Categorization of gene-condition pairs using our taxonomy simplifies communication regarding patient preferences for carrier information from a genomic test.Genet Med advance online publication 12 January 2017.


Assuntos
Revelação/normas , Triagem de Portadores Genéticos/métodos , Triagem de Portadores Genéticos/normas , Revelação/ética , Exoma , Testes Genéticos/ética , Testes Genéticos/métodos , Testes Genéticos/normas , Genoma Humano , Genômica , Humanos , Achados Incidentais , Preferência do Paciente , Análise de Sequência de DNA/métodos
19.
Contemp Clin Trials ; 53: 100-105, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-27940182

RESUMO

Population-based carrier screening is limited to well-studied or high-impact genetic conditions for which the benefits may outweigh the associated harms and costs. As the cost of genome sequencing declines and availability increases, the balance of risks and benefits may change for a much larger number of genetic conditions, including medically actionable additional findings. We designed an RCT to evaluate genomic clinical sequencing for women and partners considering a pregnancy. All results are placed into the medical record for use by healthcare providers. Through quantitative and qualitative measures, including baseline and post result disclosure surveys, post result disclosure interviews, 1-2year follow-up interviews, and team journaling, we are obtaining data about the clinical and personal utility of genomic carrier screening in this population. Key outcomes include the number of reportable carrier and additional findings, and the comparative cost, utilization, and psychosocial impacts of usual care vs. genomic carrier screening. As the study progresses, we will compare the costs of genome sequencing and usual care as well as the cost of screening, pattern of use of genetic or mental health counseling services, number of outpatient visits, and total healthcare costs. This project includes novel investigation into human reactions and responses from would-be parents who are learning information that could both affect a future pregnancy and their own health.


Assuntos
Triagem de Portadores Genéticos/métodos , Cuidado Pré-Concepcional/métodos , Análise de Sequência de DNA/métodos , Tomada de Decisões , Aconselhamento Genético/métodos , Testes Genéticos , Humanos , Medidas de Resultados Relatados pelo Paciente , Satisfação do Paciente , Pesquisa Qualitativa , Qualidade de Vida
20.
Am J Med Genet A ; 170(3): 565-73, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26889673

RESUMO

As genome or exome sequencing (hereafter genome-scale sequencing) becomes more integrated into standard care, carrier testing is an important possible application. Carrier testing using genome-scale sequencing can identify a large number of conditions, but choosing which conditions/genes to evaluate as well as which results to disclose can be complicated. Carrier testing generally occurs in the context of reproductive decision-making and involves patient values in a way that other types of genetic testing may not. The Kaiser Permanente Clinical Sequencing Exploratory Research program is conducting a randomized clinical trial of preconception carrier testing that allows participants to select their preferences for results from among broad descriptive categories rather than selecting individual conditions. This paper describes (1) the criteria developed by the research team, the return of results committee (RORC), and stakeholders for defining the categories; (2) the process of refining the categories based on input from patient focus groups and validation through a patient survey; and (3) how the RORC then assigned specific gene-condition pairs to taxonomy categories being piloted in the trial. The development of four categories (serious, moderate/mild, unpredictable, late onset) for sharing results allows patients to select results based on their values without separately deciding their interest in knowing their carrier status for hundreds of conditions. A fifth category, lifespan limiting, was always shared. The lessons learned may be applicable in other results disclosure situations, such as incidental findings.


Assuntos
Serviços de Planejamento Familiar/ética , Doenças Genéticas Inatas/classificação , Doenças Genéticas Inatas/diagnóstico , Testes Genéticos/ética , Genoma Humano , Revelação da Verdade/ética , Tomada de Decisões/ética , Exoma , Feminino , Grupos Focais , Triagem de Portadores Genéticos , Aconselhamento Genético , Doenças Genéticas Inatas/genética , Doenças Genéticas Inatas/patologia , Heterozigoto , Humanos , Achados Incidentais , Masculino , Ensaios Clínicos Controlados Aleatórios como Assunto , Análise de Sequência de DNA , Inquéritos e Questionários , Terminologia como Assunto
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