11/18/2021

Privacy

The generation of functional genomics data by next-generation sequencing has increased greatly in the past decade. Broad sharing of these data is essential for research advancement but poses notable privacy challenges, some of which are analogous to those that occur when sharing genetic variant data. However, there are also unique privacy challenges that arise from cryptic information leakage during the processing and summarization of functional genomics data from raw reads to derived quantities, such as gene expression values. Here, we review these challenges and present potential solutions for mitigating privacy risks while allowing broad data dissemination and analysis.

Microbiome

A multidisciplinary group of microbiome epidemiology researchers adapted guidelines for observational and genetic studies to culture-independent human microbiome studies, and also developed new reporting elements for laboratory, bioinformatics and statistical analyses tailored to microbiome studies. The resulting tool, called ‘Strengthening The Organization and Reporting of Microbiome Studies’ (STORMS), is composed of a 17-item checklist organized into six sections that correspond to the typical sections of a scientific publication, presented as an editable table for inclusion in supplementary materials.

Hemophilia

The goal of gene therapy for patients with hemophilia A is to safely impart long-term stable factor VIII expression that predictably ameliorates bleeding with the use of the lowest possible vector dose. In this phase 1–2 trial, we infused an investigational adeno-associated viral (AAV) vector (SPK-8011) for hepatocyte expression of factor VIII in 18 men with hemophilia A. Four dose cohorts were enrolled. Sustained factor VIII expression in 16 of 18 participants who received SPK-8011 permitted discontinuation of prophylaxis and a reduction in bleeding episodes. No major safety concerns were reported.

Gene Therapy

Allogeneic hematopoietic stem-cell transplantation is the standard of care for Hurler syndrome (mucopolysaccharidosis type I, Hurler variant [MPSIH]). However, this treatment is only partially curative and is associated with complications. We are conducting an ongoing study involving eight children with MPSIH. The delivery of HSPC gene therapy in patients with MPSIH resulted in extensive metabolic correction in peripheral tissues and the central nervous system

Coronavirus

Among 3,070 counties, each percentage increase in population vaccination rates reduced county-wide COVID-19 incidence by 0.9% (relative risk (RR) 0.9910 (95% CI: 0.9869, 0.9952)) and mortality by 1.9% (RR 0.9807 (95% CI: 0.9745, 0.9823)). Among counties with vaccination coverage >40%, each percentage increase in vaccination rates reduced COVID-19 disease by 1.5%, RR 0.9850 (95% CI: 0.9793, 0.9952) and mortality by 2.7% (RR 0.9727 (95% CI: 0.9632, 0.9823)). These associations were not observed among counties with <40% vaccination rates. Increasing vaccination rates from 40% to 80% would have reduced COVID-19 cases by 45.4% (RR 0.5458 (95% CI: 0.4335, 0.6873)) and deaths by 67.0% (RR 0.3305 (95% CI: 0.2230, 0.4898)). An estimated 5,989,952 COVID-19 cases could have been prevented and 127,596 lives saved had US population vaccination rates increased from 40% to 80%.