Genomic sequencing and the impact of molecular diagnosis on patient care

摘要

Evolving sequencing technologies allow more accurate, efficient and affordable genomic analysis. As a result, these technologies are increasingly available, especially to provide molecular diagnoses for patients with suspected genetic disorders. However, there are many challenges to using genomic sequencing to benefit patients, including concerns that there is insufficient evidence that identifying an underlying molecular explanation may positively impact a patient's healthcare. This concern has many repercussions, including funding and/or (in some countries and healthcare systems) insurance reimbursement for genomic sequencing. To investigate this concern, all monogenic disorders were analyzed based on the impact of achieving molecular diagnosis. Of the 2,849 individual genes in which germline mutations cause disorders (not including contiguous gene syndromes or what may be categorized as susceptibility alleles), our analyses showed a specific, available intervention related to at least one affected organ system for 1,419 (49.8%) genes. In 95.6% of these genes, the intervention(s) would be recommended during the pediatric time frame.