Here, we describe a comprehensive, scalable, biotechnology solution to delayed molecular diagnosis and substandard therapy in rapidly progressive childhood genetic diseases. Called Genome-to-Treatment, it is an automated, virtual system for genetic disease diagnosis and acute management guidance. Results 13...
Over 90% of newborns with this condition are born of parents with normal hearing7, who will require genetic counseling for hearing rehabilitation and future family planning. Unfortunately, the genetic characteristics of individuals with sporadic hearing loss have not been sufficiently investigated till ...
Journal of Genetic Counseling Nan Doyle, Allison Cirino, Amber Trivedi & Maureen Flynn 794 Accesses 9 Altmetric 1 Mention Explore all metrics Abstract Access to genetic counselors’ services is neither universal nor automatic, due in part to the gatekeeper role of healthcare payers – the ...
Understanding the genetics of sudden death in the young (SDY) enables family counseling and cascade screening. The objective of this study was to characterize genetic variation in an SDY cohort using whole genome sequencing. Methods The SDY Case Registry is a National Institutes of Health/Centers ...
The availability of a more comprehensive diagnostic test compared to the individual “gene by gene” analysis approach, will provide better opportunities to identify the deafness causing mutation in patients, permitting thus prompt management and improved genetic counseling. With high-throughput sequencing ...
, information about resource consumption over the whole care process is likely to be limited so that it may be necessary to restrict the assessment of costs to the total costs from a health-care provider perspective, including only the relevant scarce budgets for laboratory testing and counseling....