Her focus is on the complexities and uncertainties posed during the prenatal-neonatal period, especially with the implementation of genomic technologies as well as with pediatric inborn errors of metabolism, unknown or rare diseases, cardiac and syndromic conditions, complex neurodevelopmental disorders, along with fetal anomalies detected by imaging, fetal therapies, and preconception screening.
The development of microarray technology and next-generation sequencing (NGS) within the past 5 years has led to a step-change in the implementation of genomic technologies; before this, the bulk of genetic research was carried out on DNA microarrays.
Rothberg likens the state of genomic technology to that of computing before PCs.
Considerations of the ethical implications of genomic technologies and data are crucial to the implementation of genomic advances for improving human health.
Over the past decade, significant improvement has been achieved in our understanding of the molecular pathogenesis underlying this disease, thanks in part to the implementation of powerful genomic technologies allowing genome-wide structural and functional analyses.
Development, application, and data analysis of genomic technologies.
His research focuses on the development, application, and data analysis of genomic technologies.
Regulation of the medical uses of genomic technologies is an evolving and controversial field.
Health technology assessments and other implementation strategies are recognizing the need to improve implementation of genomic-based technologies and as a result, are integrating perspectives beyond scientific including ethical, legal, and social perspectives.
Increasingly, researchers and decision makers have come to realize that successful implementation of genomic-based technologies requires consideration of not only benefits, but also drawbacks, medical, and otherwise.
Moreover, we found that the use of female reproductive technologies in combination with the implementation of genomic selection increased rates of genetic gain even more.
