Research Tools
Genetic Utility (GENE-U)
Funded Research as PI
National Human Genome Research Institute K99HG011491, R00HG011491
Role: PI
Funding period: 2020-2022 (K99 phase), 2023-2026 (R00 phase)
Mentors: Amy McGuire, Stacey Pereira, David Veenstra, Brendan Lee
Collaborators: Tara Lavelle, Eve Wittenberg, Ashish Deshmukh
Research: An ELSI-Integrated Evaluation of the Family-Level Utility of Pediatric Genomic Sequencing
The goal of this research is to investigate how clinical genomic sequencing impacts families of pediatric patients. This research will develop an empirically informed framework of normative values important to families of pediatric patients, including ethical, legal, and social implications (ELSI), which will then be used to elicit preferences for features of sequencing from a nationally representative sample of parents in the US. The results of this work will lead to a measure of family utility that integrates ELSI and can be used in a decision analytic model to assess the impact of genomic sequencing and the importance of including family-level ELSI considerations in such analyses.
Family Well-Being Research Network (FAM-NET) Research Scholars Corp
Role: PI
Funding period: 2022-2023
Mentor: Janel Hanmer
The objective of this project is to systematically describe empirical literature on health-related quality of life measurement in pediatric patients with genetic conditions and their family members and on family well-being measurement in the context of genetic conditions.
Center for ELSI Resources and Analysis
Role: co-PI (with Meghan Halley)
Funding period: 2022-2024
The Value Ethics Working Group will engage a broad range of stakeholders in developing guidance for ethically justified and patient-centered value assessment and reimbursement strategies for gene therapies. Follow our activities and outputs on X @GenetxValue
Department of Population Medicine, Harvard Medical School & Harvard Pilgrim Health Care Institute, Faculty Grants Program
Role: PI
Funding period: 2023
Research: Health Care Utilization Among Families of Children with Genetic Conditions
Recipient of the Ebert Fellowship, Harvard Medical School’s Eleanor and Miles Shore 50th Anniversary Fellowship Program for Scholars in Medicine
The goal of this research to understand the value of genomic sequencing at the family level to inform clinical implementation and payment policy. To assess public attitudes and preferences regarding familial communication of genetic results and follow-up testing in relatives, we will conduct a population-based survey of US adults. Additionally, we will describe clinical diagnoses, health care utilization, and spending for children and their families following pediatric genomic sequencing using health care claims data.