Clinicogenomics, also referred to as clinical genomics, is the study of clinical outcomes with genomic data. Genomic factors have a causal effect on clinical data. Clinical factors are not causal factors of a disease phenotype unlike genomic factors. Clinicogenomics uses the entire genome of a patient in order to diagnose diseases or adjust medications exclusively for that patient. Whole genome testing can detect more mutations and structural anomalies than targeted gene testing. Furthermore, targeted gene testing can only test for the diseases for which the doctor screens whereas testing the whole genome screens for all diseases with known markers at once.
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Challenges
Below are a few of the major challenges facing the usage of clinicogenomics by health care providers today. Other challenges also exist, such as the expense of genome sequence analysis and whether or not insurance companies provide coverage for sequencing.
Data sharing
One of the difficulties of genome testing is the amount of data from a sequence and the dozens of formats in which that data can come. This data needs to be standardized and added to electronic health records. It also needs to be in a format that can be utilized by health care providers for comparisons, second opinions and future study.
Privacy
One of the concerns of utilizing clinicogenomics is the privacy of the patients throughout the process of collecting the DNA, analyzing the genome, and delivering the interpreted data to health care providers. The raw genetic data must be encrypted prior to analysis in order to maintain the anonymity of the patient. Then, a scientist without any previous knowledge of the patient interprets the encrypted data. A report is produced and given to the physician for further study if applicable.