title: From Phenotype to Genotype: Enter Genomics and Transformation of Primary Health Care around the World.
abstract: The progress in phenotype descriptions, measurements, and analyses has been remarkable in the last 50 years. Biomarkers (proteins, carbohydrates, lipids, hormones, various RNAs and cDNAs, microarrays) have been discovered and correlated with diseases and disorders, as well as physiological responses to disease, injury, stress, within blood, urine, and saliva. Three-dimensional digital imaging advanced how we "see" and utilize phenotypes toward diagnosis, treatment, and prognosis. In each example, scientific discovery led to inform clinical health care. In tandem, genetics evolved from Mendelian inheritance (single gene mutations) to include Complex Human Diseases (multiple gene-gene and gene-environment interactions). In addition, epigenetics blossomed with new insights about gene modifiers (e.g., histone and non-histone chromosomal protein methylation, acetylation, sulfation, phosphorylation). We are now at the beginning of a new era using human and microbial whole-genome sequencing to make significant healthcare decisions as to risk, stratification of patients, diagnosis, treatments, and outcomes. Are we as clinicians, scientists, and educators prepared to expand our scope of practice, knowledge base, integration into primary health care (medicine, pharmacy, nursing, and allied health science professions), and clinical approaches to craniofacial-oral-dental health care? The time is now.
authors.affiliation: Center for Craniofacial Molecular Biology, Ostrow School of Dentistry, University of Southern California, 2250 Alcazar Street CSA-103, Los Angeles, CA 90033, USA Slavkin@usc.edu.
authors.forename: H C
authors.initials: HC
authors.lastname: Slavkin
mesh_terms: D000755:Anemia, Sickle Cell / Q000235:genetics; D015415:Biomarkers / Q000032:analysis; D035843:Biomedical Research; D019465:Craniofacial Abnormalities / Q000235:genetics; D003729:Dental Care; D003920:Diabetes Mellitus / Q000235:genetics; D004517:Education, Professional; D057890:Epigenomics; D059647:Gene-Environment Interaction; D014644:Genetic Variation; D023281:Genomics; D005838:Genotype; D014943:Global Health; D006801:Humans; D021621:Imaging, Three-Dimensional / Q000379:methods; D009059:Mouth Diseases / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010348:Patient Care Team; D010510:Periodontal Diseases / Q000235:genetics; D010641:Phenotype; D057285:Precision Medicine; D011320:Primary Health Care; D014076:Tooth Diseases / Q000235:genetics
chemical_list: D015415:Biomarkers
keywords: bioinformatics; craniofacial-oral-dental diseases and disorders; epigenetics; personalized medicine and dentistry; phenomics; whole-genome sequencing