In-depth applications

Applications of genomics in healthcare are often hailed as major advances in the media and by those making the discoveries. How does one evaluate claims that a gene-signature can predict the course of a disease or that a genetic marker can be used to predict response to a drug? Conversely, how does one identify patients more likely to respond to a particular drug? In the case-examples in this peer-reviewed series we illustrate how the scientific method can be used to provide answers to those questions.

1.1 US Food and Drug Administration The Food and Drug Administration website is the portal of choice for the most up-to-date information on drugs licensed drugs in the United States. It is also the most informative website currently available on drugs in general with very useful information on biomarkers, companion diagnostics and the perspectives of both drug manufacturers and independent committee members. It includes useful documentation such as a list of recognised biomarkers.


1.2 European Medicines Agency The European Medicine Agency gives information on drugs licensed in the European Union but is generally less informative that the FDA website. However it is useful for comparative data such as when regulatory decision on specific drugs differ from that of the FDA and when regulatory action is taken earlier than the FDA.


1.3 The International Committee on Harmonisation (ICH)  The ICH of Technical Requirements for Registration of Pharmaceuticals for Human Use aims to harmonise the regulatory requirements for the licensing of drugs across the Europe, Japan and the US. It brings together the regulatory agencies and pharmaceutical industry of those countries and publishes consensus guidelines on salient issues such as common medical terminology for adverse drug effects and biomarkers for biotechnology products.

2.1 US Food and Drug Administration This webpage gives bare-bone details about licensed in-vitro diagnostics including companion diagnostics such as Fluorescent in-situ hybridisation assay for ALK variant and chromogenic in-situ hybridisation test for HER-2 amplification. Further details are then obtainable by a specific search on the medical devices webpage.
3.1 US National centre for Biotechnology Information This website is a veritable treasure trove of information on all aspects of genes and biotechnology from DNA sequence to genome projects and relevant literature. Its various associated websites give more information on specific topics such as genes, single nucleotide polymorphisms and genetic tests.The site also includes other important resources such as the Online Mendelian Inheritance in man OMIM? database which catalogues diseases with known links to specific genes. Useful educational material is provided in all sections


3.2 Protein KnowledgeBase UniProtKB UniProt gives access to detailed sequence and function of proteins in a user-friendly format


3.3 Sanger Institute User friendly website focussing on the Institute’s research focus and with particularly useful information on cancer genes and molecular cytogenetics.


3.4 Wikipedia.org An open-access encyclopaedia that provides rapid access to named genes and associated links. Very useful first port of call before linking to more specialist websites.

4.1 Pharmacogenomics Knowledge Base Useful annotated database of pathways and single nucleotide polymorphisms by drug, gene and disease. Provides guidance on interpretation of pharmacogenomic data and links to relevant sections of drug labels that include pharmacogenomic information. Also highlights new research published in peer reviewed journals including published guidelines.
5.1 The PHG Foundation This organisation is a pioneer in publich health genomics. Highlights major developments and provides guidelines and discussion documents on policy issues.


5.2  Genetics and Public Policy centre

6.1 University of Utah Very useful website for learning genetics with material presented in a lucid and friendly manner for the uninitiated and with an excellent emphasis on applications. Includes useful exercises which demonstrate important concepts such as specific base-pairing in DNA. Addresses complex issues such as epigenetics and gene therapy in an accessible manner.


6.2 US National Coalition for Health Professional Education in Genetics (NHPEG)

7.1 National Comprehensive Cancer Network Provides regularly updated guidelines on the management of specific cancers including position statements on genetic or companion diagnostics in the appropriate guidelines.


7.2 National Cancer Institute Provides an abundance of data on the epidemiology, diagnosis and management of cancer including useful presentations on targeted therapies.

8.1 Google.com A Google search identifies scholarly material on the history of genetics, often not well indexed in the databases where they are located. Early and non-MEDLINE-indexed and Non-English publications can be identified through this search engine. 8.2 James Lind Library Provides access to early trials and useful passages from relevant texts.


8.3 Electronic Scholarly Publishing Provides free access to many of the early publications on genetics.

10.1 Healthtalkonline.org Gives helpful information and patients’ own accounts of their conditions


10.2 Patients like me Gives patients’ accounts of their condition but not curated and diseases may be confused (e.g. Parkinson disease with Wolff-Parkinson-White syndrome at last access (6 Jan 2012).

 

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