What’s on the web for family physicians –diagnostic molecular pathology

Alfred KY Tang 鄧權恩，Tony Kwok-fung Chau 周國峰

Introduction to molecular diagnostics: the essential of diagnotics series
http://advameddx.org/download/files/AdvaMedDx_DxInsights_FINAL(2).pdf

This resource serves as an overview of the various molecular diagnostic techniques that are currently used in molecular pathology. The techniques detect presence of genetic mutation or variation known to be pathogenic to help uncovering the underlying molecular mechanisms of disease conditions. This in turn allows clinicians to tailor -made treatment plan and to practice “personalised medicine”. The review outlines the use of polymerase chain reaction (PCR) in diagnosis. Some of these techniques, for example, mutational analysis, are the first-line decision-making diagnostic technique in patient screening, triaging patients into different treatment arms , risk assessment , prognostication as well as and progress monitoring. Each diagnostic technique is illustrated by a specific example to give an entry-level knowledge to frontline doctors for a better understanding in different diagnostic techniques, their applications and the individual characteristics.

Genetics in Primary Care (GPC) training programme curriculum materials
http://genes-r-us.uthscsa.edu/resources/genetics/primary_care.htm

Maintained by the National Newborn Screening and Global Resource Center of USA, the website is dedicated to providing newborn screening resource information to consumers and health professionals. Affiliated to University of Texas Health Science Center, the materials in this section are designed to illustrate connections between molecular genetics and primary care. Representative cases with close resemblance to patients seen in primary care are used to illustrate the application of the principles in molecular genetics. Each module has links to websites for additional background information and articles from the medical literature, including relevant consensus and policy statements where applicable. Major topics include breast and ovarian cancer, cardiovascular disease, colorectal cancer, congenital hearing loss, dementia, developmental delay, and iron overload.

National Cancer Institute (NCI) : latest development of targeted therapy
http://www.cancer.gov/about-cancer/treatment/types/targeted-therapies/targeted-therapies-fact-sheet

Maintained by National Cancer Institute of USA. The website provides basic information on targeted therapy. With knowledge in signaling pathways and advent in molecular diagnostic techniques, specific agents targeting cellular signaling pathways were developed, shifting the paradigm of treatment from us ing convent iona l chemothe r apeut i c agent s to target-specific molecular drugs, which possess better desirable side effect profile and improved survival as well as overall morbidity. The website answers questions on targeted therapy like how targets for novel cancer therapies were identified and developed, and also what choices are available in the market. Latest update on the approved drugs is provided, and progress on drugs under trial (Phase one to three) are listed for various neoplastic conditions.

Diagnostic molecular pathology : cur renttechniques and clinical applications, part I
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1214554/

This is the first part of a review article dedicated to diagnostic molecular pathology. It covers different diagnostic techniques involved. There has been revolutionary progress in human genomics which is reshaping our approach to therapy and diagnosis. Nucleic acid-based testing is becoming a crucial diagnostic tool not only in the setting of inherited genetic disease, but in a wide variety of neoplastic and infectious processes. Following diagnosis of the disease condition, molecular testing can help to guide appropriate therapy by identifying specific therapeutic targets of newly tailored drugs , thus the term pharmacogenomics. Molecular diagnostics provides the necessary underpinnings for any successful application of gene therapy or biologic response modifiers. It offers a great tool for assessing disease prognosis and therapy response and detecting minimal residual disease. It is foreseeable that in the next decade from now, more and more laboratory tests will be based on DNA or RNA analysis.

Diagnostic molecular pathology, part 2 :proteomics and clinical applications of molecular diagnostics in hematopathology
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1200694/

This is the second part of a review article dedicated to diagnostic molecular pathology. It has a more in-depth discussion in the advances in the field of “proteomics” and their role in diagnosis, prognostication, and clinical management of lymphoid and leukemic neoplasms. The crucial role of molecular diagnostics in monitoring engraftment status following marrow transplantation was also discussed. Proteomics holds good promise for early detection of neoplasms such as ovarian carcinoma, and its application in hemtologic neoplasms could serve as a model for detection and management of other solid tumors.

Personalised genotype-directed therapy foradvanced non-small cell carcinoma of lung
http://www.uptodate.com/contents/personalizedgenotype-directed-therapy-for-advanced-non-smallcell-lung-cancer#H9880656

The Molecular Pathology Resource Guide is one of four Resource Guides of the College of American Pathologists (CAP). Together they bring a collected set of resources that are focused on the specific hot-topic technology important to all clinicians. Each resource guide highlights updated educational materials such as journal articles, and CME resources relating to this technology. Also, each Resource Guide includes an “Insights From Adopters” section to gain perspective from leading pathology figures in the field. In short, each Resource Guide provides a one-stop reference that will assist busy clinicians to find valuable information about this dynamic and important emerging technology.