Newborn screening and the era of medical genomics.
Across the span of the last 75+ years, technological and conceptual advances in genetics have found rapid implementation at the beginning of human life. From karyotype testing, to molecular cytogenetics, to gene panel testing, and now to whole exome and whole genome sequencing, each iterative expansion of our capability to acquire genetic data on the next generation has been implemented quickly in the clinical setting. In tandem, our continuously expanding ability to acquire large volumes of genetic data has generated its own challenges in terms of interpretation, clinical utility of the information, and concerns over privacy and discrimination; for the first time, we are faced with the possibility of having complete access to our genetic data from birth, if not shortly after conception. Here, we discuss the evolution of the field toward this new reality and we consider the potentially far-reaching consequences and, at present, an unclear path toward developing best practices for implementation.
Center for Human Disease Modeling, Duke University School of Medicine, 300 N Duke St, Durham, NC 27701.
Ludmila
L
Francescatto
Center for Human Disease Modeling, Duke University School of Medicine, 300 N Duke St, Durham, NC 27701. Electronic address: katsanis@cellbio.duke.edu.
Nicholas
N
Katsanis
D004252:DNA Mutational Analysis; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000639:trends*; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D025202:Molecular Diagnostic Techniques; D015997:Neonatal Screening / Q000639:trends*; D011247:Pregnancy
genetic testing; in vivo model organisms; newborn screening; next-generation sequencing; rare genetic disorders; whole exome/genome sequencing