Clinicogenomics, also referred to a
clinical genomics
is the study of clinical outcomes with

genomic Genomics is an interdisciplinary field of molecular biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, ...

data. Genomic factors have a causal effect on clinical data. 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.Veltman, Joris A., and James R. Lupski. “From Genes to Genomes in the Clinic.” ''Genome Medicine'' 7.1 (2015): 78. 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.

Uses

Clinicogenomics is currently used in personalized medicine such as

pharmacogenomics Pharmacogenomics, often abbreviated "PGx," is the study of the role of the genome in drug response. Its name ('' pharmaco-'' + ''genomics'') reflects its combining of pharmacology and genomics. Pharmacogenomics analyzes how the genetic makeup o ...

and

oncogenomics Oncogenomics is a sub-field of genomics that characterizes cancer-associated genes. It focuses on genomic, epigenomic and transcript alterations in cancer. Cancer is a genetic disease caused by accumulation of DNA mutations and epigenetic altera ...

. By studying the whole genome, a physician is able to construct medical plans based on an individual patient's genome rather than generic plans for all patients with the same diagnosis. For example, researchers are able to identify the mutations that cause a particular kind of cancer by studying the genomes of many patients with that cancer type, such as in a study of renal tumors that were previously only diagnosed through morphological anomalies. Furthermore, researchers can identify the medications and treatments that work best on particular cancer-causing mutations, which can then be applied to treat future patients. Clinicogenomics can also be used in preventative medicine by sequencing a patient's genome prior to a diagnosis in order to identify the known mutations related to medical conditions. In the future, patients could be sequenced at birth and periodically throughout our lives to be cautious of potential health risks and prepare for probable future diagnoses. Through preventative care, patients will be able to change their lifestyles and behaviors to reflect their genetic predisposition to certain conditions.Potamias, George, Dimitris Kafetzopoulos, and Manolis Tsiknakis. "Integrated clinico-genomics environment: Design and operational specification." Journal for Quality of Life Research 2.1 (2004): 145-150. For example, if a woman knows she has mutation in the ''BRCA1'' gene, she can be more proactive about mammograms, Pap smears and other preventative care to help increase her odds of survival despite her likelihood of cancer. By detecting cancer earlier or preventing the development of diseases such as diabetes, health care costs for individuals implementing preventative medicine based on genomic data will decrease.

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 o
genome sequence analysis
and whether or no
insurance companies
provide coverage for sequencing.

Physician 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 record An electronic health record (EHR) is the systematized collection of electronically stored patient and population health information in a digital format. These records can be shared across different health care settings. Records are shared thro ...

s.Warner, Jeremy L., Sandeep K. Jain, and Mia A. Levy. “Integrating Cancer Genomic Data into Electronic Health Records.” ''Genome Medicine'' 8.1 (2016): 113. It also needs to be in a format that can be utilized by both health care providers for comparisons, second opinions and future study as well as by machines used for processing the data for further analysis.

Patient 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. In a study using HIV patients, the researchers encrypted the raw genetic data prior to analysis in order to maintain the anonymity of the patient. Then, a scientist without any previous knowledge of the patient interpreted the encrypted data. A report was produced and given to the physician for further study if applicable.McLaren, Paul J. et al. “Privacy-Preserving Genomic Testing in the Clinic: A Model Using HIV Treatment.” ''Genetics in Medicine'' 18.8 (2016): 814–822.

References

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External links

*https://web.archive.org/web/20170212092106/https://www.garvan.org.au/research/kinghorn-centre-for-clinical-genomics/clinical-genomics/learn-about-genomics/what-is-clinical-genomics *https://genomemedicine.biomedcentral.com/articles/10.1186/gm205 *https://ghr.nlm.nih.gov/primer/testing/insurancecoverage *http://research.nhgri.nih.gov/CGD/ Genomics