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phenotypes. GeneClinics ( http://www.geneclinics.org/ ) helps clinicians to relate the
information from genetic testing to the diagnosis, management, and genetic coun-
seling of patients and families with specifi c inherited diseases.
Advances in biotechnology enable us to obtain information on genetic makeup
with speed, precision and at reasonable cost. Genetic details can be correlated with
other complex information via computers. Genetic databases are now helping eluci-
date gene function, estimate the prevalence of genes in populations, differentiate
among subtypes of diseases, trace how genes may predispose to or protect against
illnesses, and improve medical intervention. They will play an important role in
development of personalized medicine.
Genetic databases can be probed for gene-related variabilities in drug respon-
siveness and metabolism to tailor drugs to particular constitutions and to screen for
genetic suitability before prescribing. Diseases in which genetic information has
been studied for this purpose include asthma, migraine, Alzheimer’s disease,
depression, psoriasis, and osteoarthritis. Pharmaceutical and biotechnology compa-
nies are either building or buying access to genetic databases and DNA libraries,
often based on data from clinical trials.
Clinical Genomic Database
Although technological advances have greatly increased the availability of human
genomic sequencing, the capacity to analyze genomic data in a clinically meaning-
ful way lags behind the ability to generate such data. To address this obstacle, all
conditions with genetic causes were reviewed to constructed the Clinical Genomic
Database (CGD), a searchable, freely Web-accessible ( http://research.nhgri.nih.
gov/CGD/ ) database of conditions based on the clinical utility of genetic diagnosis
and the availability of specifi c medical interventions (Solomon et al. 2013 ). CGD
currently includes 2,616 genes organized clinically by affected organ systems and
interventions (including preventive measures, disease surveillance, and medical or
surgical interventions) that could be reasonably warranted by the identifi cation of
pathogenic mutations. To aid independent analysis and optimize new data incorpo-
ration, CGD also includes all genetic conditions for which genetic knowledge may
affect the selection of supportive care, informed medical decision-making, prognos-
tic considerations, reproductive decisions, and allow avoidance of unnecessary test-
ing, but for which specifi c interventions are not otherwise currently available. For
each entry, the CGD includes the gene symbol, conditions, allelic conditions, clini-
cal categorization (for both manifestations and interventions), mode of inheritance,
affected age group, description of interventions/rationale, links to other comple-
mentary databases, including databases of variants and presumed pathogenic muta-
tions, and links to PubMed references (>20,000). The CGD will be regularly
maintained and updated to keep pace with scientifi c discovery. Further content-
based expert opinions are actively solicited. Eventually, the CGD may assist the
rapid curation of individual genomes as part of active medical care.
1 Basic Aspects