Genomics, personalized medicine, and pediatrics.
- Authors
- Feero, William Gregory; Guttmacher, Alan E
- Year
- 2014
- Journal
- Academic pediatrics
- PMID
- 24369865
- DOI
- 10.1016/j.acap.2013.06.008
- PMCID
- PMC4227880
Genomic discoveries are advancing biomedicine at an ever-increasing pace. Pediatrics is near the epicenter of these discoveries, which are revising our understanding of the genome and its function. Since the completion of the Human Genome Project in 2003, dramatic reductions in the cost of genotyping, and more recently sequencing, have permitted the study of the genomes of a great number of species as well as humans. These studies have led to insights on gene regulation and the complex interplay of factors responsible for normal development and biology. Study of single-gene disorders has greatly benefited from the genomics revolution and tests are now available for well over 2000 Mendelian conditions; availability of these tests are changing screening and diagnosis paradigms for rare conditions. Genomics is also yielding an increased understanding of common conditions such as diabetes, obesity, asthma, cancers, and mental health conditions. Personalized medicine, an approach to care in which an individual's genomic information is used to help tailor interventions to maximize health outcomes, is rapidly becoming a reality for a variety of conditions. Though challenges remain in translating new genomic insights into improved patient health, today's pediatricians and their patients will increasingly benefit from this watershed moment in the biological sciences.
Decrease in sequencing cost per genome plotted on a logarithmic scale in U.S. dollars. The white line represents the cost that would have resulted if sequencing cost decreases had followed the mathematics of Moore’s Law of semiconductors. It is important to note that these cost figures do not include genome interpretation. Adapted from the website of the National Human Genome Research Institute, National Institutes of Health (http://www.genome.gov/sequencingcosts/).
LLM interpretation
This line graph shows the decrease in sequencing cost per genome from 2001 to 2012, with the y-axis plotted on a logarithmic scale in U.S. dollars. The green data line tracks the actual cost, which declines more steeply than the white reference line representing Moore's Law, particularly after 2007. The cost drops from approximately $100 million in 2001 to below $10,000 by 2012.
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| [CHARGE syndrome in children with congenital choanal atresia]. | Kotova EN et al. | — | 2022 | → |
| Pharmacogenomics: A Step forward Precision Medicine in Childhood Asthma. | Ferrante G et al. | — | 2022 | → |
| [Age features of the lower nasal passage according to endoscopy in children]. | Baranov KK et al. | — | 2021 | → |
| Genomic Health Literacy Interventions in Pediatrics: Scoping Review. | Gupta A et al. | — | 2021 | → |
| Precision Medicine in Neonates: A Tailored Approach to Neonatal Brain Injury. | Tataranno ML et al. | — | 2021 | → |
| Genetics and epigenetics in obesity. | Rohde K et al. | — | 2019 | → |
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