Payer Coverage of Hereditary Cancer Panels: Barriers, Opportunities, and Implications for the Precision Medicine Initiative. The global next generation sequencing market expected to reach US$ 25.85 billion by 2028 according to a new study conducted by Polaris Market Research. SCOPE X Professional X Facility DESCRIPTION Whole exome sequencing (WES) is a type of genetic testing that is used to determine the nucleotide sequence (or DNA sequence) of the exonic (the expressed or protein-coding) regions of an individual’s genome. The services segment is predicted to witness remarkable growth over the forecast period, owing to a major reduction in the cost of sequencing due to the adoption of NGS and availability of reimbursement policies. Blueprint Genetics follows the ACMG Recommendations for Reporting Secondary Findings in Clinical Exome and Genome Sequencing, 2016 Update, to look for and report disease-causing genetic variants in these genes if the patient or caregiver has agreed that they want this information. Furthermore, market players involved in the manufacturing of NGS equipment have come up with innovative exome sequencing solutions. A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C. Exome sequencing: value is in the eye of the beholder. Molecular diagnosis resulted in clinical actions in 14 of 23 patients (61%). Limitations of exome sequencing in detecting rare and undiagnosed diseases. Methods: Despite growing evidence of diagnostic yield and clinical utility of whole exome sequencing (WES) in patients with undiagnosed diseases, there remain significant cost and reimbursement barriers limiting access to such testing. Am J Med Genet A. Sixty-six patients in the UDN faced insurance coverage barriers to WES at the time of enrollment (67% public payer, 26% private payer). A team of collaborators from multiple institutions in the US, with funding from the National Human Genome Research Institute, developed the TRANSPERS Payer Coverage Registry©. F. R. Goncalves, S. Santos, C. Silva, G. Sousa, Risk-sharing agreements, present and future. Most known disease-causing variants are found in the exons, and by sequencing them all simultaneously, a more efficient analysis can be completed than by sequencing each individual gene alone (Bertier et al., 2016). Please enable it to take advantage of the complete set of features! Would you like email updates of new search results? Figure 2.. Insurance coverage barriers to clinical WES. As a whole, the health system including patients, payers and manufacturers needs affordable healthcare. Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant. 2019 May 16;163:D3711. Clinical cases of heterogeneous Mendelian disorders that could potentially benefit from HTS are presented and discussed during the sessions of the task force. U01 HG007690/HG/NHGRI NIH HHS/United States, U01 HG007708/HG/NHGRI NIH HHS/United States, U01 HG007674/HG/NHGRI NIH HHS/United States, U01 HG007672/HG/NHGRI NIH HHS/United States, U01 HG007703/HG/NHGRI NIH HHS/United States, U01 HG007942/HG/NHGRI NIH HHS/United States, U01 HG007709/HG/NHGRI NIH HHS/United States, U01 HG010218/HG/NHGRI NIH HHS/United States, U01 HG007530/HG/NHGRI NIH HHS/United States, F32 HG000130/HG/NHGRI NIH HHS/United States. Clipboard, Search History, and several other advanced features are temporarily unavailable. 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