The objective of this research is to provide real-world evidence on the process demands of newborn genomic sequencing, how findings are managed and impact medical, behavioral and psychosocial outcomes over time, and optimal protocols for laboratory reanalysis.
Research Portfolio
My research integrates clinical genomics, health economics, and patient-centered outcomes research to generate evidence that informs the implementation of precision medicine into clinical practice and public health, with an emphasis on disease prevention.
This project estimates the benefits, harms, and cost-effectiveness of newborn genomic screening using a detailed computer microsimulation model. Current work evaluates outcomes through adulthood, cascade testing of siblings, and targeted strategies for newborn genomic sequencing to reduce race-based medical care disparities.
The goals of this project are to design a study focused on population genomic screening for the CDC Tier 1 genomic conditions and additional conditions, compare strategies to promote uptake and appropriate follow-up management in primary care, and create a framework of best practices and lessons learned for equitable and sustainable implementation.
This multi-site randomized controlled trial implements early childhood genomic screening in real-world primary care settings with families from diverse racial backgrounds. The study evaluates the medical and psychosocial impact of genome sequencing on children and families, including exploratory economic outcomes.
This project uses simulation modeling and longitudinal observational data to estimate the clinical benefits and harms of risk-reducing medications among high-risk survivors of childhood and adolescent cancer to inform follow-up care guidelines beyond screening.
This project developed a framework for evaluating the impact of disclosing common genetic information about monogenic, pharmacogenomic, and polygenic risk information to unselected populations, developed an Outcomes Toolkit for Genomic Sequencing, and applied the toolkit to randomized trial data.
This study refined and finalized actionable engagement strategies, developed in a pilot project based on African American nurse perspectives, for engaging African American communities in precision medicine research.
This project developed and tested an interactive web-based conversation aid on mammography screening for primary care providers to use with women older than 75 years and involved family members during clinical visits.
This study evaluates the impact of novel precision screening approaches and precision treatment paradigms, synthesizing evidence to quantify contributions to US breast cancer mortality reductions and guide intervention development.
This project develops and implements a genomic return-of-result process in the Framingham Heart Study and Jackson Heart Study cohorts and explores associated medical, behavioral, and economic outcomes, as well as methods to automate genomic variant interpretation at scale.
This research agreement summarized the impact of integrating pharmacogenetic and disease predisposition information into primary care, including effects on clinician preparedness, provider and patient behaviors, medical and economic outcomes, and familial outcomes.
This project tested a pilot protocol for integrating genomic sequencing into the care of active duty airmen, including survey development and approaches for analyzing health outcomes.
This research determined the cost-effectiveness of integrating whole genome sequencing into the care of healthy adults, assessing health impact, cumulative healthcare costs five years after results, and lifetime outcomes using decision analytic models.
The eMERGE III Clinical Center leveraged a large biobank and rich electronic medical record data to define the phenotypic impact of mutations emerging from sequencing and returned actionable results to biobank participants.
This project developed a process for analyzing and reporting genome sequencing results in the newborn period. My role focused on analyses of costs.
This study examined how different types of incidental findings from genomic sequencing may affect interactions between primary care providers and their patients.
The MedSeq Project explored the application of genomic sequence data in active clinical settings, randomizing primary care and cardiology patients to receive clinical information derived from whole genome sequencing versus standard care. My role included survey development and analyses of costs.
This project examined the opinions and choices of parents whose children were enrolled in a research biobank regarding return of research results, including survey development and outcomes analyses.
This study used recordings of disclosure sessions from the REVEAL Study to develop a conceptual model of psychological responses to learning pleiotropic risk information during genetic risk assessment for Alzheimer’s disease.
This project used online surveys to assess the impact of direct-to-consumer genetic testing on consumers using 23andMe and Pathway Genomics, with a focus on survey development and psychological outcomes.
This planning grant prepared a protocol to examine the efficacy of tailored, web-based skills training to help primary care providers interpret and communicate genomic risk information.
This project developed and evaluated a risk communication protocol for patients with mild cognitive impairment and their family members.
This pilot project developed and evaluated a protocol for returning genetic research results to participants in a large international, population-based study on melanoma susceptibility.
The REVEAL Study assessed the impact of disclosing genetic risk information about Alzheimer’s disease, including strategies for streamlining counseling, education, and disclosure; secondary findings; and disclosure among individuals with mild cognitive impairment.
This focus group study documented the experiences of men who attempted semen cryopreservation after a cancer diagnosis through the Fertility Counseling and Gamete Cryopreservation Program at the University of Michigan Comprehensive Cancer Center.