11/02/2023

Disparities

From the paper: "Patient-facing digital genomic tools are increasingly being used to facilitate the delivery of genetics services including patient intake, phenotyping, education, counseling, and result reporting. A recent systematic review found that digital tools improved the workflow of genetics providers and service efficiencies. Existing data on patient experiences also demonstrate high acceptance of pre-test digital tools across various contexts, with most patients endorsing and expressing high levels of satisfaction with these tools. However, a closer examination of digital genomic tools reveals a concerning lack of consideration for diversity, equity, and inclusion (DEI) principles in their design, evaluation, and implementation within health systems [ "

Rare diseases

From the abstract: "The purpose of this is study it to evaluate the diagnostic utility of publicly-funded clinical exome sequencing (ES) for patients with suspected rare genetic diseases (RGDs). We prospectively enrolled 297 probands who met eligibility criteria and received ES across five sites. We demonstrate robustness in eligibility criteria and high clinical validity of laboratory results from ES testing. The importance of ES was highlighted by the potential 40% of patients that would have gone undiagnosed without this test."

Cystic fibrosis

From the paper: "Care for patients with cystic fibrosis has undergone transformative changes over the past decade and serves as an example of how an understanding of the functional consequences of a genetic disease can lead to improved outcomes in affected persons. Substantial progress had been made through the implementation of therapies addressing key downstream manifestations of the disease such as mucus accumulation in the airways and persistent airway infections. In addition, the introduction of small-molecule drugs that address the underlying molecular defects — cystic fibrosis transmembrane conductance regulator (CFTR) modulators — has resulted in unprecedented improvements in the health of many persons with cystic fibrosis."

Immunotherapy

From the abstract: "Neoadjuvant or adjuvant immunotherapy can improve outcomes in patients with resectable non–small-cell lung cancer (NSCLC). Perioperative regimens may combine benefits of both to improve long-term outcome. 802 patients were randomly assigned to receive durvalumab (400 patients) or placebo (402 patients). Perioperative durvalumab plus neoadjuvant chemotherapy was associated with significantly greater event-free survival and pathological complete response than neoadjuvant chemotherapy alone, with a safety profile that was consistent with the individual agents. "