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Genome Sequence-Based Screening for Childhood Risk and Newborn Illness (The BabySeq Project)
NIH/NICHD  U19-HD077671 (RC Green and AH Beggs, MPIs)

The goal of this project is to develop a process for analyzing and reporting the results of genome sequencing in the newborn period. My role is to assist on all aspects of the study, particularly around the development, administration, and analysis of both physician and patient outcome measures.
[Study site]


eMERGE Phase III Clinical Center at Partners HealthCare
NIH/NHGRI U01-HG008685 (ST Weiss, EW Karlson, SN Murphy, JW Smoller, mPIs)

The eMERGE III Clinical Center leverages a large biobank and rich EMR to define the phenotypic impact of mutations emerging from sequencing. It then returns actionable results to biobank participants, including variants associated with familial hypercholesterolemia as part of a randomized controlled clinical trial.


Cost-effectiveness of Whole Genome Sequencing of Healthy Adults
NIH/NHGRI K01-HG009173 (KD Christensen, PI)

Principal Investigator
The central goal of this research is to determine the cost-effectiveness of integrating whole genome sequencing into the care of healthy adults. One project will assess the health impact and cumulative healthcare costs of whole genome sequencing five years after participants of a randomized controlled trial received results. A second project will extend these analyses over patients’ lifetimes using decision analytic models. Findings will inform development of clinical guidelines and reimbursement strategies to accelerate the integration of sequencing into medical care.


MilSeq: Enabling Personalized Medicine through Exome Sequencing in the U.S. Air Force
DOD FA8650-17-2-6704 (RC Green, PI)

The goal of this project is to test a pilot protocol for integrating genomic sequencing into the care of active duty airmen.


Precision Medicine Policy and Treatment (PreEMPT) Model
NIH/NICHD R01-HD090019 (AC Wu, PI)

The goal of this grant is to develop a detailed computer microsimulation model capable of simulating the clinical benefits, potential risks, and cost consequences associated with the integration of different genomic sequencing screening strategies into clinical care.


Experiences and Outcomes in Early Adopters of Predispositional Sequencing
NIH/NICHD R01-HG009922 (RC Green, PI)

The objective of the proposed research is to aggregate data from, and assess the value of, personal predispositional genome sequencing among participants in present day projects focused on sequencing apparently healthy individuals.


Medical/Economic ImpactT and Behavioral Responses to Integrating the Sanford ChipS (METRICS) Study
Sanford Health 20182750 (KD Christensen, PI)

Principal Investigator
This goal of this research agreement is to summarize the impact of integrating pharmacogenetic and disease predisposition information into patient care within primary care settings, including the effect on clinician preparedness, provider and patient behaviors, medical and economic outcomes, and familial outcomes.


Return of Genomic Results and Estimating Penetrance in Population-Based Cohorts
NIH/NHLBI R01-HL143295 (R. C. Green, PI)

The overall goal of the proposed research is to develop and implement a genomic return of result process in the Framingham Heart Study and Jackson Heart Study cohorts and explore associated medical, behavioral and economic outcomes. We will also develop ways to automate and streamline genomic variant interpretation at scale, and develop analyses to aid assessment of penetrance.