Kurt Derek Christensen

The paper examines motivations and outcomes of elective genomic sequencing across research, clinical, and commercial contexts, finding most participants found results medically important but few shared them with healthcare providers.

The paper explores primary care providers' experiences with receiving genetic results from a national biobank study, highlighting challenges in integrating genetic information into routine care.

The paper explores parental perspectives on genomic sequencing research participation among under-represented racial and ethnic groups, finding high interest but identifying barriers to enrollment.

The paper describes the design and pilot results of a study returning genetic results for familial hypercholesterolemia to MVP participants, showing a reduction in LDL-C after genetic counseling.

The paper presents a framework to evaluate the clinical utility of multi-gene, multi-disease panel testing by incorporating variant frequency, penetrance estimates, and disutilities, while accounting for uncertainty in penetrance.

This study uses EHR data to identify gene-phenotype associations and develop phenotype risk scores for variant interpretation in hereditary cancer genes.

The paper evaluates unanticipated monogenic disease risks found in newborns through genomic screening, finding most risks are actionable and lead to medical interventions.

This study evaluates the feasibility and costs of returning actionable genomic results from a biobank, finding high false positive rates in genotyping and significant under-testing among at-risk individuals.

Neptune delivers structured genomic data to EHR systems through customizable reports and variant reanalysis, supporting over 15,000 clinical reports.