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Review
. 2019 Apr 1;16(Spring):1a.
eCollection 2019 Spring.

Genetic Variations and Precision Medicine

Amal Adel Alzu'bi  1 , Leming Zhou  2 , Valerie J M Watzlaf  2
Affiliations
Review

Genetic Variations and Precision Medicine

Amal Adel Alzu'bi et al. Perspect Health Inf Manag. .

Abstract

The time and costs associated with the sequencing of a human genome have decreased significantly in recent years. Many people have chosen to have their genomes sequenced to receive genomics-based personalized healthcare services. To reach the goal of genomics-based precision medicine, health information management (HIM) professionals need to manage and analyze patients' genomic data. Two important pieces of information from the genome sequence are the risk of genetic diseases and the specific medication or pharmacogenomic results for the individual patient, both of which are linked to a patient's genetic variations. In this review article, we introduce genetic variations, including their data types, relevant databases, and some currently available analysis methods and systems. HIM professionals can choose to use these databases, methods, and systems in the management and analysis of patients' genomic data.

Keywords: database; genetic variation; precision medicine.

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Figures

Figure 1
Figure 1
Illustration of Single Nucleotide Polymorphisms (SNPs). Source: National Human Genome Research Institute. Available at http://www.genome.gov/glossary/index.cfm?p=viewimage&id=185.
Figure 2
Figure 2
Illustration of Single-Base Insertions and Deletions (INDELs)
See this image and copyright information in PMC

References

    1. Collins, S. F., Varmus H. “A New Initiative on Precision Medicine.”. New England Journal of Medicine. 2015;372(no. 9):793–95. - PMC - PubMed
    1. Wynn R., Adams K., Kowalski, et al R. “The Patient in Precision Medicine: A Systematic Review Examining Evaluations of Patient-Facing Materials.”. Journal of Healthcare Engineering. 2018;2018:9541621. - PMC - PubMed
    1. Juengst E., McGowan M. “Why Does the Shift from ‘Personalized Medicine’ to ‘Precision Health’ and ‘Wellness Genomics' Matter?”. AMA Journal of Ethics. 2018;20(no. 9):e881–e890. - PubMed
    1. Lerman C., A. Schnoll R., W L., Hawk “Use of the Nicotine Metabolite Ratio as a Genetically Informed Biomarker of Response to Nicotine Patch or Varenicline for Smoking Cessation: A Randomised, Double-Blind Placebo-controlled Trial.”. The Lancet Respiratory Medicine. 2015;3(no. 2):131–38. - PMC - PubMed
    1. Precision Medicine Initiative Working Group The Precision Medicine Initiative Cohort Program – Building a Research Foundation for 21st Century Medicine. 2015:p. 1. Available at https://www.nih.gov/sites/default/files/research-training/initiatives/pm....

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