Background Shortly after birth, all babies in the U.S. undergo routine newborn screening (NBS). NBS saves and improves the lives of thousands of babies each year by detecting rare diseases that might otherwise go unnoticed until it’s too late for treatment. The NBS test is done by taking a small amount of blood from a … Continued
Genome sequencing (GS) is increasingly conducted in large-scale human research studies, creating questions for investigators about whether and how to return genetic findings. The American College of Medical Genetics and Genomics (ACMG) recommends that physicians report secondary findings in at least 59 actionable genes (the ACMG59) whenever clinical GS is ordered. In an effort to … Continued
Sequencing in the military healthcare setting comes with a unique set of considerations as it has the potential to return information that may impact a service member’s perceived mission-readiness, duty assignments, and career. Although scholars have commented on this issue, little is known about the perspectives of those serving in the military. The MilSeq Project … Continued
Genome sequencing services are increasingly being utilized by physicians and their patients in both research and clinical settings. Developing standards and procedures for the use of sequencing information in clinical medicine is an urgent need with numerous obstacles to integrity and storage of sequencing data, interpretation, and responsible clinical integration. The MedSeq Project, funded by … Continued
Background The BabySeq Project: Phase I was a first-of-its-kind randomized clinical trial designed to measure the utility of using genomic sequencing in routine newborn care. The concept for this project is built off of the existing newborn screening program, an important public health initiative. All newborns born in the U.S. receive a heel stick blood … Continued
The rapid identification of genetic risk factors for common, complex diseases poses great opportunities and challenges for public health. Genetic information is increasingly being utilized as part of commercial efforts, including personal genomic testing, to provide consumers with genetic risk information related to common diseases. Few empirical data have been gathered to understand the characteristics … Continued
Alzheimer’s disease (AD) clinical trials have traditionally tested individuals with symptoms of dementia, but the discovery of AD biomarkers has dramatically altered this approach. New studies are enrolling participants who are cognitively normal but have biomarkers suggestive of “preclinical AD” with the hopes of delaying the onset of cognitive impairment. Of critical importance is whether … Continued
Genomic sequencing is available to and being utilized by physicians and their patients in both research and clinical settings. Instead of using genomic technology in the hopes of identifying a cause for a specific condition, genomic sequencing in healthy individuals would follow a model of “predispositional” genomic testing. This model envisions results being returned in a … Continued
The Risk Evaluation and Education for Alzheimer’s Disease (REVEAL) Study, funded by NIH, was the first ever study to disclose APOE Alzheimer’s Disease risk to healthy patients and made important contributions to the scientific understanding of disclosing genetic risk for Alzheimer’s Disease.Through a series of multi-site randomized controlled clinical trials, REVEAL provided empirical data to address ethical, … Continued
