The Aim of C-MD
The major aim of the website of the Committee for Molecular
Diagnostics (C-MD) of the International Federation of Clinical
Chemistry and Laboratory Medicine (IFCC) is to promote and
disseminate information about the activities of the C-MD and to
provide a focal point for laboratories, member societies, and
industry groups for molecular diagnostics.
The Web-site also contains links to web-sites relevant to molecular
diagnostics including genetic and molecular genetics societies,
gene sequence and mutation databases, primer design sites, and a
number of other molecular diagnostic utilities.
Disease Oriented Databases and Facilities
OMIM TM : A
database of genes and genetic disorders developed the National
Center for Biotechnology Information (NCBI). In includes links to
numerous other resources including sequence records in the Entrez
system. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM
Disease
and Locus Specific Databases : This Human Variation
Society site contains links to numerous data bases including locus,
disease, racial, mitochondrial, and clinical and patient databases.
The list was compiled by the Genomic Disorders Research Centre . http://www.hgvs.org/dblist/dblist.html
Human Mutation
Database : A collation of published gene mutations and
their association with disease. It also contains links to locus
specific databases. http://www.hgmd.org/%20
GeneCards
: GeneCardsTM is a database of human genes, the nature and
functions of their encoded proteins, and disease associations. It
is a user friendly site offering a quick overview of numerous
aspects of genes, mutations, their expression in various tissues,
and has links to publications. http://www.genecards.org
Primary Nucleic
Acid Databases
These databases contain primary sequence data often used by
other web based programs and projects.
GenBank :http://www.ncbi.nlm.nih.gov/Genbank/index.html
EMBL Nucleotide DB : http://www.ebi.ac.uk/embl/index.html
DDBJ (DNA DataBase of Japan ): http://www.ddbj.nig.ac.jp/
Other databases
NCBI
dbSNP: An NCBI maintained database for single base
nucleotide substitutions and short deletion or insertion
polymorphisms. http://www.ncbi.nlm.nih.gov/projects/SNP/
Human Genome
Database: The following resource page contains
numerous useful links including contacts in major genome centres,
chromosome specific servers, some disease specific mutation
databases, and bioinformatics/sequence analysis websites. http://www.gdb.org/gdb/hgpResources.html
Human Genome Project: Home page for the Human Genome
project (1990-2003) and with many useful links to more current
projects.
http://www.un.org/docs/ecosoc/documents/2004/resolutions/eres2004-9.pdf
HapMap:
The home page for the HapMap, an international project aimed at
developing a haplotype map of the human genome through
collaboration by a number of academic, non-profit and academic
research groups as well as private companies. Much of the data
generated is accessible and its main utility is for research
purposes. http://www.hapmap.org/
Reference Materials
NIBSC (National Biological Standards Board):
This is a UK based institute which distributes WHO biological
standards. The link connects to the A to Z catalogue for
Virology which contains a limited number of nucleic acid standards
and working reagents. Instructions for use of particular
materials can be downloaded from web pages for the specific
materials. http://www.nibsc.ac.uk/products/directorylist.asp
NIST (National Institute of Standards
and Technology): This link connects to the NIST's
searchable database for reference materials, including a limited
number of DNA reference materials. http://ts.nist.gov/ts/htdocs/230/232/232.htm
JCTLM (Joint Commission for Traceability in Laboratory
Medicine): The JCTLM was established to provide a
worldwide platform to promote internationally recognized and
accepted equivalence of measurements in Laboratory Medicine and
traceability to appropriate measurement standards. It is joint
commitee of The International Committee of Weights and Mesures
(CIPM), the (IFCC), and the International Laboratory Accreditation
Cooperation (ILAC). One of its functions is to catalogue higher
order reference materials from around the world. While there
are no nucleic acid standards currently catalogued, a number are
anticipated soon and it is expected that the JCTLM will develop
into a major database for reference materials for molecular
diagnostics testing. http://www.bipm.fr/en/committees/jc/jctlm/
Proficiency Testing
CAP (College of American Pathologists): This
links to the CAP's proficiency testing program (Centers for
Medicare & Medicaid Services (CMS) approved) for molecular
diagnostics. This particular page concerns accreditation
issues. To locate programs for molecular diagnostics, click
on the"SURVEYS" Catalog or "Schedule of tests".
http://www.cap.org/apps/cap.portal?_nfpb=true&_pageLabel=accreditation
QCMD (Quality Control for Molecular
Diagnostics): The QCMD is a pan European and umbrella
organization for proficiency testing programs specializing in
molecular diagnostics. RMS is represented on an advisory
board to this organization. The site also contains a number
of reports which can be downloaded. http://www.qcmd.org/Index2.htm
CDC's Model Performance Evaluation Program:
This site concerns the CDC's Performance Evaluation Program,
a scheme developed to evaluate laboratories testing for a number of
infectious diseases. It includes a number of programs (e.g. for HIV
and Mycobacterium tuberculosis) which have molecular
components. Reports can be downloaded from the site. http://www.phppo.cdc.gov/mpep/default.aspx
CDC's conference report and link to worldwide EQA
(External Quality Assessment)- PT programs: This
particular webpage has links and files from a global conference in
2002 on EQA including molecular diagnostics. It also contains links
to a number of other useful sites on EQA: http://www.phppo.cdc.gov/mlp/eqa.aspx
EuroGenTest: This site contians links and
information on several European molecular genetics proficiency
testing programmes.
http://www.eurogentest.org/cocoon/egtorg/web/info/unit1/molecular.xhtml
Quality
Control Materials & Panels
CoriellCell Repository: This is a commercial
site which provides cell cultures and DNA relevant to numerous
human molecular diagnostic tests. http://ccr.coriell.org/
AcroMetrix: This is commercial site which
specializes in designing controls and panels for molecular
diagnostics. The company also offers a service for the manufacture
of custom panels for businesses. http://www.acrometrix.com/products.php
SeraCare(FormerlyBBI): This is a commercial
site which provides quality control materials for molecular
diagnostics. http://www.seracare.com/bbidx/bbi_diagnostics.htm
Programs
Primer3 : PCR primer design program from the
Whitehead Institute for Biomedical Research . http://www.wi.mit.edu/
WatCut : Program for design of RFLP assays for
single nucleotide substitutions. http://watcut.uwaterloo.ca/watcut/watcut/template.php
Restriction HomePage : Programs for RFLP
analysis including design of mutagenic PCR primers for introduction
of artificial restriction sites. http://insilico.ehu.es/restriction/
dCAPS Finder : Program for RFLP analysis
including design of mutagenic PCR primers for introduction of
artificial restriction sites. http://helix.wustl.edu/dcaps/dcaps
BLAST: A sequence retrieval/alignment tool.
Compares nucleotide or amino acid sequences to those in public
databases. http://www.ncbi.nlm.nih.gov/BLAST/
Standards & Guidelines
CLSI- Clinical and Laboratory StandardsInstitute (formerly
NCCLS): The following link is for CLSI's Working Area
Committees. It gives an overview of working/active projects as well
as published documents. For published documents, follow the link to
the GSC Regulatory and Standardization Documents site and the CLSI
library. http://www.clsi.org
In addition, the following link in CLSI connects to the
Harmonized Terminology Database. Use the following CLSI link to
search for the definition of terms:
http://www.clsi.org/AM/Template.cfm?Section=Harmonized_Terminology_Database
ACMG (American College of Medical Genetics):
The ACMG has several technology guidelines for genetic testing
(i.e. Factor V Leiden, Cystic Fibrosis). The following URL
links to a page which precedes the relevant documents. You
must read and accept the terms and conditions of use before
proceeding to the relevant documents. http://genetics.faseb.org/cgi-bin/acmgm/rd.pl?pgm=1
Laboratory and Genetic Services Directories
GeneTests: A directory of private and public
diagnostic laboratories conducting molecular genetic testing. http://www.genetests.org/
International Regulatory and Policy Documents
United Nations Economic and Social Council (ECOSOC), "Resolution
2004/9: Genetic Privacy and Non-Discrimination", Geneva , July 21,
2004 , http://www.genetests.org/
(date accessed: August 14, 2006 ).
ECOSOC- "Resolution 2001/39, Genetic Privacy and
Non-discrimination", Geneva , July 2001,
http://www.un.org/docs/ecosoc/documents/2004/resolutions/eres2004-9.pdf
(date accessed: August 14, 2006 )
The World Medical Association (WMA), "The World Medical
Association Statement on Genetics and Medicine", Santiago , 2005,
http://www.wma.net/e/policy/g11.htm
(date accessed: August 14, 2006 ).
UNESCO International Bioethics Committee (IBC), "The Tehran
Statement", Tehran , March 28, 2005,
http://portal.unesco.org/shs/en/file_download.php/6ae2882ee85eb422dc9467861ba60e53TehranStatement.pdf(date
accessed: August 14, 2006 ).
UNESCO - International Bioethics Committee (IBC), "International
Declaration on Human Genetic Data", Paris , October 16, 2003 ,
http://portal.unesco.org/shs/en/file_download.php/199979a35f1645326a6511fd0dca29ccDeclaration_en.pdf
(date accessed: August 14, 2006 ).
UNESCO, "Monaco Statement: Considerations on Bioethics and the
Rights Of The Child", (2000) 10(3) Eubios Journal of Asian and
International Bioethics ,71-72,
http://www.unescobkk.org/fileadmin/user_upload/shs/EJAIB/EJAIB52000.pdf (date
accessed: August 14, 2006 )
World Health Organization (WHO), "Statement of the WHO Expert
Consultation on New Developments in Human Genetics", Geneva , 2000,
http://whqlibdoc.who.int/hq/1998/WHO_HGN_ETH_98.2.pdf
(date accessed: August 14, 2006 ).
World Health Organization (WHO), "Statement of WHO Expert
Advisory Group on Ethical Issues in Medical Genetics", Geneva ,
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(date accessed: August 14, 2006 )
International Guidelines and Reports
Association of Women's Health, Obstetric and Neonatal Nurses
(AWHONN), "National Standards for Newborn Screening. Policy
Position Statement", Washington, June 1, 2002 , http://www.awhonn.org/awhonn/?pg=875-4810-5600
(date accessed: August 14, 2006)
Association of Women's Health, Obstetric, and Neonatal Nurses
(AWHONN), "Privacy and Confidentiality of Genetic Information.
Policy Position Statement", Washington , January 1, 2000,
http://www.awhonn.org/awhonn/?pg=873-6230-7000-4810-5620-7400(date
accessed: August 14, 2006)
Consensus Committees of the European Registry of Hereditary
Pancreatic Diseases, the Midwest Multi-Center Pancreatic Study
Group and the International Association of Pancreatology, "Genetic
Testing for Hereditary Pancreatitis: Guidelines for Indications,
Counselling, Consent and Privacy Issues", London, April 7, 2001,
Pancreatology 2001;1:405-415,
http://www.pancreas.org/assets/Pancreatology/HPgeneTestConsensus.pdf
(date accessed: August 14, 2006).
Council for International Organizations of Medical Sciences
(CIOMS), "Pharmacogenetics: Towards Improving Treatment with
Medicines", Geneva , 2005, ISBN 92 9036 078 X, http://www.cioms.ch/frame_pharmacogenetics_febr_2005.htm
(date accessed: August 14, 2006).
International Federation of Gynecology and Obstetrics (FIGO) -
Committee for the Ethical Aspects of Human Reproduction, "Testing
for Genetic Predisposition to Adult Onset Disease", London, June
2001, in "Recommendations on Ethical Issues in Obstetrics and
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http://www.figo.org/content/PDF/ethics-guidelines-text_2003.pdf
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Regional and National Regulatory Dcouments, Policy Documents
and Guidelines
Editorial team : The content of the website is peer-reviewed and
updated by members and associate members of the C-MD (see Committee
membership in About Us)