The Estonian government plans to provide free DNA-based lifestyle advice for 100,000 of its 1.3 million residents. It will be the first nation to provide a state-sponsored personal genetic information service – but some have warned that this might cause unnecessary worry for those who find out they have an elevated risk for certain diseases.
This article explores how children who survive congenital heart defects may face new problems as adults, and advocates for lifetime follow-up for all CCHD patients.
Mandatory screening of infants for critical congenital heart disease (CCHD) was linked with significantly decreased rates of related deaths, according to a new study.
Food and Drug Administration Commissioner Scott Gottlieb is questioning whether the law that encourages drugmakers to develop medicines for rare diseases is working the way it should.
Newborn screening is an effective public health intervention that not only decreases morbidity and mortality but is also cost-effective. State governments should move quickly to adopt screening programs for those conditions added to the RUSP and to prevent lags in adoption for future additions.
In this paper, we review the evolution of the field of public health genomics in the United States in the past two decades. Public health genomics focuses on effective and responsible translation of genomic science into population health benefits. We discuss the relationship of the field to the core public health functions and essential services, review its evidentiary foundation, and provide examples of current US public health priorities and applications. We cite examples of publications to illustrate how Genetics in Medicine reflected the evolution of the field. We also reflect on how public-health genomics is contributing to the emergence of “precision public health” with near-term opportunities offered by the US Precision Medicine (AllofUs) Initiative.
There is a genetic disorder affecting the immune system so severely that its patients often require protective isolation, hence the disease’s nickname: “Bubble Boy Disease.” Scientists know this disease as X-linked severe combined immunodeficiency disorder (XSCID). From the St. Jude Children’s Research Hospital, scientists conduct the first-ever clinical trial in infants with XSCID to test the effectiveness of the newest gene therapy approach to treating the disease.
This 44-year-old patient has Hunter syndrome, which doctors hope to treat using zinc finger nucleases.