Genomics is the term that describes the study of all the genes in a person, as well as interactions of those genes with each other and with that person's environment. It is genes that carry the instructions for making proteins, which in turn direct the activities of cells and functions of the body that influence traits - such as hair and eye color.
With the cost of DNA sequencing decreasing dramatically, the medical and research community now has the capability for genome sequences to be determined for a large number of individuals with the corresponding potential use of this information for medicine and discovery.
The ADRM Genomics Solution Data Model provides a comprehensive data model to enable you to collect, integrate, enrich, and analyze genomics-related data from a variety of sources in a format which is easy to understand and navigate, freeing you from the constraints or silos imposed by individual source-specific data formats.
ADRM's Genomics data model is hardware / software / vendor independent, enabling you to take advantage of the best technologies and data sources, and then to integrate the resulting data into an intuitive and comprehensive information view, which can then be deployed on-premises or in the cloud, whichever best suits your analytic requirements.
This large and detailed genomics data model enables a 360° view of genomics by incorporating components from key different dimensions - not merely DNA sequencing and reporting – including among other topics:
| Subjects (aka Patients) | Genes |
| Tests/Procedures | DNA |
| Outputs | Alleles |
| Chromosomes | Amino Acids |
| Proteins |
Each of these components has intrinsic value and may be applied individually or in combination for analysis and data gathering.
The objective of ADRM's Genomics Solution Data Model is not simply to provide a data store for the sequencing, recording and querying of genomes. Because it integrates data from a variety of related sources, it can be used to establish a robust information foundation for a variety of initiatives including:
- Genomic medicine
The emerging medical discipline that involves using genomic information about an individual as part of their clinical care (ex: diagnostics, predisposition) and the health outcomes and policy implications of that clinical use. Genomic medicine is making a significant impact in the fields of oncology, pharmacology, rare and undiagnosed diseases, and infectious diseases, among others.
- Predictive and pre-symptomatic genetic testing
Used to find gene changes that increase a person's likelihood of developing diseases or conditions. The results of these tests provide risk and predisposition information that may be useful in decisions about lifestyle and healthcare.
- Diagnostic testing
Used to precisely identify the disease or condition that is making a person ill. The results of a diagnostic test provide choices about how to treat or manage health.
- Carrier testing
Used to find people who have or "carry" a change in a gene that is linked to disease. For example, carriers may show no signs of the disease but have the ability to pass on the gene change to their children, who may develop the disease or become carriers themselves.
Some diseases require a gene change to be inherited from both parents for the disease to occur. In this case testing may be offered to people who have a family history of a specific inherited disease or who belong to certain ethnic groups that have a higher risk of specific inherited diseases.
- Newborn screening
Used to test babies one or two days after birth to find out if they have certain diseases known to cause problems with health and development.
Currently, every baby born in the United States is tested at birth for between 29 and 50 severe, inherited, treatable genetic diseases through a public health program called newborn screening.
- Pharmaceutical development and trials
The approval process for drugs will be facilitated by using genetic testing to define the patient populations involved in the testing of new drugs. Genetic testing will make it possible to account for genetic variation in a trial subject group when assessing efficacy and side effects.
Today, it typically takes 12 years to bring a new drug to market, half of which is spent on discovery and half on approval; sequencing plays a role in both stages. During drug discovery, the pathways illuminated by genomic analysis lead to targeted development and shorter discovery cycles.
This will also lead to an improvement in treatment after a drug has been approved, as companion genetic tests for drugs will help doctors make informed decisions about how a drug might interact with a patient's genetic makeup.
Additionally, the analysis of data of approved drugs upon patients and their associated genomic composition will provide valuable information about the success of drugs and the population and characteristics most favorable to their use.
- Pharmacogenomic testing
Used to provide information about how certain medicines are processed by an individual's body and whether a particular therapy or dosage will be effective.
While the ADRM Genomics Solution Data Model can be, and often is, used on a stand-alone basis, it has been designed so that it can also be tightly integrated with other ADRM data model offerings to provide an even more comprehensive integrated data architecture. Other related ADRM Software data models which may be of interest include:
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