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1.
Med Clin North Am ; 103(6): 1005-1019, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31582001

RESUMO

Heritable thoracic aortic disease (HTAD) can have life-threatening consequences if not diagnosed early. Affected individuals and at-risk family members benefit from both cardiology and genetic evaluations, including genetic testing. Important information can be obtained through family history, medical history, and genetic testing to help guide management and assess risk. A genetic diagnosis can guide cardiovascular management (type and frequency of vascular imaging, timing of surgical intervention), risk assessment for arterial aneurysm/dissection, evaluation of nonvascular features, and familial testing.


Assuntos
Aorta Torácica/anormalidades , Doenças da Aorta , Testes Genéticos/métodos , Administração dos Cuidados ao Paciente/métodos , Doenças da Aorta/genética , Doenças da Aorta/terapia , Humanos , Medicina de Precisão/métodos
2.
Med Clin North Am ; 103(6): 1077-1092, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31582005

RESUMO

Compared to clinicians previously surveyed, primary care providers employed in a health system known for clinical genomics were more likely to have ordered or referred a patient for genetic testing, but had only modestly more genetics training and reported similarly low levels of comfort answering patient questions about genetic risk. Most supported population genomic screening, reported willingness to get screened themselves, and judged a hypothetical patient's decision to be screened favorably relative to a similar patient's decision to decline screening. Stakeholder perceptions of the ethical appropriateness of nudging at-risk patients to discuss testing with counselors were mixed.


Assuntos
Aconselhamento Genético , Testes Genéticos/métodos , Atenção Primária à Saúde , Aconselhamento Genético/ética , Aconselhamento Genético/métodos , Aconselhamento Genético/psicologia , Humanos , Medicina de Precisão/métodos , Atenção Primária à Saúde/métodos , Atenção Primária à Saúde/tendências , Sequenciamento Completo do Exoma
3.
Med Clin North Am ; 103(6): 957-966, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31582006

RESUMO

The collection of family history has always been a tool for genetic evaluation, but it remains an essential tool even in the age of genomic medicine. Patients may have a risk for a disease based on family history regardless of the results of genetic and genomic tests. How this information is collected is less important than that relevant information is collected in the first place. There are many tools for collecting medical and family history information both by hand and electronically. Genetic and genomic testing should always be interpreted in the context of the personal and family history.


Assuntos
Testes Genéticos/métodos , Anamnese/métodos , Medicina de Precisão , Humanos , Linhagem , Medição de Risco
4.
Med Clin North Am ; 103(6): 977-990, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31582008

RESUMO

Pharmacogenomics (PGx) is a powerful tool that can predict increased risks of adverse effects and sub-therapeutic response to medications. This article establishes the core principles necessary for a primary care provider to meaningfully and prudently use PGx testing. Key topics include in which patients PGx testing should be considered, how PGx tests are ordered, how the results are translated into clinical recommendations, and what further advancements are likely in the near future. This will provide clinicians with a foundational knowledge of PGx that can allow incorporation of this tool into their practice or support further personal investigation.


Assuntos
Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Farmacogenética/métodos , Medicina de Precisão , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/genética , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/prevenção & controle , Humanos , Atenção Primária à Saúde/métodos
8.
Adv Exp Med Biol ; 1161: 101-113, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31562625

RESUMO

The treatment of psychiatric disorders remains a significant challenge in part due to imprecise diagnostic criteria and incomplete understanding of the molecular pathology involved. Current diagnostic and pharmacological treatment guidelines use a uniform approach to address each disorder even though psychiatric clinical presentation and prognosis within a disorder are known to be heterogeneous. Limited therapeutic success highlights the need for a precision medicine approach in psychiatry, termed precision psychiatry. To practice precision psychiatry, it is essential to research and develop multiple omics-based biomarkers that consider environmental factors and careful phenotype determination. Metabolomics, which lies at the endpoint of the "omics cascade," allows for detection of alterations in systems-level metabolites within biological pathways, thereby providing insights into the mechanisms that underlie various physiological conditions and pathologies. The eicosanoids, a family of metabolites derived from oxygenated polyunsaturated fatty acids, play a key role in inflammatory mechanisms and have been implicated in psychiatric disorders such as anorexia nervosa and depression. This review (1) provides background on the current clinical challenges of psychiatric disorders, (2) gives an overview of metabolomics application as a tool to develop improved biomarkers for precision psychiatry, and (3) summarizes current knowledge on metabolomics and lipidomic findings in common psychiatric disorders, with a focus on eicosanoids. Metabolomics is a promising tool for precision psychiatry. This research has great potential for both discovering biomarkers and elucidating molecular mechanisms underlying psychiatric disorders.


Assuntos
Biomarcadores , Transtornos Mentais , Medicina de Precisão , Psiquiatria , Humanos , Transtornos Mentais/sangue , Transtornos Mentais/fisiopatologia , Metabolômica
9.
Cancer Radiother ; 23(6-7): 773-777, 2019 Oct.
Artigo em Francês | MEDLINE | ID: mdl-31471250

RESUMO

The conservative treatment of squamous cell carcinoma of anal canal by irradiation is recommended as first indication. Despite its rarity, significant improvements were obtained by retrospective or prospective clinical studies these 20 past years, evaluating concomitant chemotherapy and IMRT. Nevertheless, the individualisation of the treatment, over dose distribution, has poor data available. Fractionation remains classic (1.8-2.0Gy/Fr), but the optimal dose level remains under discussion. The strategy concerning the volumes and doses for the prophylactic volumes remains under discussion. This paper will describe the data published, and the recommendations of working Groups, and the main options under evaluation. To conclude, today only the absence of gap is recommended, the benefit of a one-step schedule reducing the treatment time, then increasing local control and survival, but personalised schedules remain under investigation.


Assuntos
Neoplasias do Ânus/radioterapia , Carcinoma de Células Escamosas/radioterapia , Irradiação Linfática/métodos , Medicina de Precisão/métodos , Neoplasias do Ânus/patologia , Carcinoma de Células Escamosas/patologia , Tratamento Conservador/métodos , Humanos , Estadiamento de Neoplasias , Guias de Prática Clínica como Assunto , Estudos Prospectivos , Dosagem Radioterapêutica , Radioterapia de Intensidade Modulada/métodos , Estudos Retrospectivos
10.
J Assoc Physicians India ; 67(9): 78-82, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31561694

RESUMO

Personalized medicine is an individualized and stratified approach to the management of a disease. Personalized medicine can reform the prevention, prediction, and management of diabetes. Use of genetic information in polygenic and monogenic forms of diabetes can help to identify genetic variants and reclassify patients into pathophysiological subgroups. Targeted diagnostic, preventive, and therapeutic interventions can be defined for these groups for effective management of diabetes. Pharmacogenetics combines genotypic and phenotypic factors to develop personalized care in various pathophysiological subgroups of persons with diabetes. Personalized medicine finds wider utility in monogenic (especially Maturity Onset Diabetes of the Young (MODY) and Neonatal Diabetes Mellitus [NDM]) than in polygenic, diabetes. The most frequently mutated genes in MODY include HNF1A and HNF3A. the common genes responsible for NDM include KCNJ11 and ABCC8 (SUR) genes. These genes influence various aspects of glucose metabolism such as ß-cell K-ATP channel modulation, production of insulin and development of pancreas. The Madras Diabetes Research Foundation has fostered research in personalized medicine for diabetes based upon genetic information and has developed a national registry for neonatal diabetes and other monogenic form of diabetes.


Assuntos
Diabetes Mellitus Tipo 2/terapia , Medicina de Precisão , Humanos , Índia , Insulina , Mutação
11.
Tumour Biol ; 41(9): 1010428319863627, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31500540

RESUMO

Stratification of colorectal cancer for better management and tangible clinical outcomes is lacking in clinical practice. To reach this goal, the identification of reliable biomarker(s) is a prerequisite to deliver personalized colorectal cancer theranostics. Osteopontin (SPP1) is a key extracellular matrix protein involved in several pathophysiological processes including cancer progression and metastasis. However, the exact molecular mechanisms regulating its expression, localization, and molecular functions in cancer are still poorly understood. This study was designed to investigate the SPP1 expression profiles in Saudi colorectal cancer patients, and to assess its prognostic value. Hundred thirty-four (134) archival paraffin blocks of colorectal cancer were collected from King Abdulaziz University Hospital, Saudi Arabia. Tissue microarrays were constructed, and automated immunohistochemistry was performed to evaluate SPP1 protein expression patterns in colorectal cancer. About 20% and 23% of our colorectal cancer samples showed high SPP1 cytoplasmic and nuclear expression patterns, respectively. Cytoplasmic SPP1 did not correlate with age, gender, tumor size, and location. However, significant correlations were observed with tumor grade (p = 0.008), tumor invasion (p = 0.01), and distant metastasis (p = 0.04). Kaplan-Meier survival analysis showed a significantly lower recurrence rate in patients with higher SPP1 cytoplasmic expression (p = 0.05). At multivariate analysis, high SPP1 cytoplasmic expression was an independent favorable prognostic marker (p = 0.02). However, nuclear SPP1 expression did not show any prognostic value (p = 0.712). Our results showed a particular SPP1 prognostic relevance that is not in line with most colorectal cancer previous studies that may be attributed to the molecular pathophysiology of our colorectal cancer cohort. Saudi Arabia has both specific genomic makeup and particular environment that could lead to distinctive molecular roots of cancer. SPP1 has several isoforms, tissue localizations and molecular functions, signaling pathways, and downstream molecular functions. Therefore, a more individualized approach for CRC studies and particularly SPP1 prognosis outcomes' assessment is highly recommended toward precision oncology.


Assuntos
Biomarcadores Tumorais/genética , Neoplasias Colorretais/genética , Recidiva Local de Neoplasia/genética , Osteopontina/genética , Idoso , Neoplasias Colorretais/patologia , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/patologia , Medicina de Precisão , Prognóstico , Arábia Saudita/epidemiologia
12.
Gan To Kagaku Ryoho ; 46(8): 1230-1234, 2019 Aug.
Artigo em Japonês | MEDLINE | ID: mdl-31501362

RESUMO

Patient participation is defined as incorporation of opinions by patients and citizens when clinical trials are planning. It has been early established in the USA and the UK. The Japan Clinical Oncology Group(JCOG)has recently launched a subcommittee of patient participation and has tried to input opinions of patients and citizens in clinical trials. We, Hepatobiliary and Pancreatic Oncology Group in JCOG, has held 3 meetings of patient participation for 3 years. We introduced our policy and clinical trials and discussed off-label drugs or treatments. In the third meeting in 2019, we have discussed precision medicine using genome analysis and clinical trials which are currently planning in our group. There are some significances and expectations to patient participation from the points of views of researchers. It is meaning to pick up clinicalunmet medicalneeds from patient participation and input requests and opinions of patients to a protocol. Opinions of patients and citizens may be useful to make informed consent form easy to read and understand for patients and their family. In order to accelerate recruitment of patients in clinical trials, it is important that patients and citizens understand exactly clinical trials through patient participation. Patient participation has just begun in Japan. It is expected to establish Japanese patient participation in the near future. It is important for not only researchers but also patients to obtain some benefits from patient participation.


Assuntos
Neoplasias/terapia , Humanos , Consentimento Livre e Esclarecido , Japão , Oncologia , Médicos , Medicina de Precisão
13.
Gan To Kagaku Ryoho ; 46(9): 1357-1360, 2019 Sep.
Artigo em Japonês | MEDLINE | ID: mdl-31530770

RESUMO

Cancer gene panel testing has been approved in Japan. Precision medicine will be implemented in Japanese clinical practice. Clinical sequencing is expected to use for treatment decision for each patient. As a predictive biomarker of immune-checkpoint inhibitor(ICI), tumor mutation burden as well as PD-L1 IHC is under evaluating in several clinical settings. MSI-test was approved as companion diagnostics for an ICI. These markers are estimated by the cancer gene panel testing. These genomic testing proceed precision medicine for cancer patients.


Assuntos
Neoplasias , Genômica , Humanos , Japão , Mutação , Neoplasias/genética , Medicina de Precisão
14.
Gan To Kagaku Ryoho ; 46(9): 1367-1371, 2019 Sep.
Artigo em Japonês | MEDLINE | ID: mdl-31530772

RESUMO

Recent advances in cancer immunotherapies, such as immune checkpoint inhibitors(ICIs), have shown some durable clinical responses in patients with various types of advanced cancers. The development of the next-generation sequencing technologies can result in a comprehensive characterization of the human cancer genomes. Personalized immunotherapy and precision cancer medicine might enable the next generation of rational cancer immunotherapy. Conventional cancer vaccines are designed to target tumor-associated antigens(TAAs), which are overexpressed in cancers. However, since TAAs are also expressed in normal tissues, cancer vaccine against TAAs can potentially initiate central and peripheral tolerance responses, which results in low vaccination efficiency. Cancer neoantigens derived from somatic mutations in tumor tissue represent highly immunogenic and can escape from central thymic tolerance. They are suggested to provide tumor specific targets for personalized cancer vaccines. Therefore, neoantigen-based cancer vaccine, which can induce tumor-specific cytotoxic T lymphocytes( CTLs), should be developed. The efficacy of current immunotherapies also remains limited due to the immunosuppressive tumor microenvironment, which leads to CTLs exhaustion or anergy and the escape of tumor cells from immune attack. The combination of neoantigen-based cancer vaccine and ICIs should be a potential therapeutic approach. In this paper, we provide a brief overview of the recent advances in the development of neoantigen-based cancer vaccines.


Assuntos
Vacinas Anticâncer , Neoplasias , Antígenos de Neoplasias , Humanos , Imunoterapia , Medicina de Precisão , Microambiente Tumoral
15.
Gan To Kagaku Ryoho ; 46(9): 1377-1381, 2019 Sep.
Artigo em Japonês | MEDLINE | ID: mdl-31530774

RESUMO

Immune checkpoint blockades have brought about great benefits to cancer patient survival; however, the effect is yet limited and the overall objective rates are not satisfactory across cancer types. Understanding T cell discrimination against cancer and development of biomarkers are both indispensable for future application. In this brief review, we introduce proteogenomics HLA ligandome analysis, which combines conventional proteomics using mass spectrometry with genomic analysis data. The approach directly and comprehensively captures immunopeptidome of cancer cells, revealing an unprecedented number of antigens that can be targeted by T cells. Intriguingly, the repertoire comprises unique classes of peptides: neoantigens that arise from gene mutation, spliced peptides generated by the proteasomes, and non-coding region derived peptides. These findings demonstrate the diversity of T cell discrimination against cancer cells, and the accumulation of individual antigen data would contribute to development of precision medicine.


Assuntos
Neoplasias , Proteogenômica , Antígenos de Neoplasias , Humanos , Espectrometria de Massas , Medicina de Precisão
18.
N Engl J Med ; 381(7): 668-676, 2019 08 15.
Artigo em Inglês | MEDLINE | ID: mdl-31412182

RESUMO

Knowledge gained from observational cohort studies has dramatically advanced the prevention and treatment of diseases. Many of these cohorts, however, are small, lack diversity, or do not provide comprehensive phenotype data. The All of Us Research Program plans to enroll a diverse group of at least 1 million persons in the United States in order to accelerate biomedical research and improve health. The program aims to make the research results accessible to participants, and it is developing new approaches to generate, access, and make data broadly available to approved researchers. All of Us opened for enrollment in May 2018 and currently enrolls participants 18 years of age or older from a network of more than 340 recruitment sites. Elements of the program protocol include health questionnaires, electronic health records (EHRs), physical measurements, the use of digital health technology, and the collection and analysis of biospecimens. As of July 2019, more than 175,000 participants had contributed biospecimens. More than 80% of these participants are from groups that have been historically underrepresented in biomedical research. EHR data on more than 112,000 participants from 34 sites have been collected. The All of Us data repository should permit researchers to take into account individual differences in lifestyle, socioeconomic factors, environment, and biologic characteristics in order to advance precision diagnosis, prevention, and treatment.


Assuntos
Bancos de Espécimes Biológicos , Pesquisa Biomédica , Estudos de Coortes , Conjuntos de Dados como Assunto , Registros Eletrônicos de Saúde , Inquéritos Epidemiológicos , Humanos , Estudos Observacionais como Assunto , Medicina de Precisão , Projetos de Pesquisa , Estados Unidos
20.
Lancet ; 394(10198): 604-610, 2019 Aug 17.
Artigo em Inglês | MEDLINE | ID: mdl-31395443

RESUMO

Human genomic sequencing has potential diagnostic, prognostic, and therapeutic value across a wide breadth of clinical disciplines. One barrier to widespread adoption is the paucity of evidence for improved outcomes in patients who do not already have an indication for more focused testing. In this Series paper, we review clinical outcome studies in genomic medicine and discuss the important features and key challenges to building evidence for next generation sequencing in the context of routine patient care.


Assuntos
Genômica/métodos , Medicina de Precisão/métodos , Testes Diagnósticos de Rotina , Genoma Humano , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Avaliação de Resultados da Assistência ao Paciente , Padrão de Cuidado
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