Question 1: Regarding the PMWC 2024 Luminary Award.

My journey began with a two-decade-long tenure as a clinical lab director, where I realized the challenges in interpreting genetic variation due to limited data sharing. This prompted me to write a grant to try to address this issue and this work is now part of  the Clinical Genome Resource program, or ClinGen. We collaborated with the NCBI that began building the ClinVar database and supported many labs to submit to ClinVar. This platform allows for sharing and standardization of variant classification knowledge, significantly improving the accuracy of interpretation. Additionally, resources like the Genome Aggregation Database (gnomAD) database and the Matchmaker Exchange (MME) have played crucial roles. The former helps in identifying common variants too frequent to cause disease, while the latter facilitates the discovery of novel disease-causing genes by globally connecting families with variants in the same genes. These efforts have been pivotal in advancing rare disease discovery and diagnostic testing, which has been acknowledged through the Luminary Award.

Question 2: Application of genomics in clinical care at MGH.

At MGH, we established the Genomic Medicine Implementation Team, a collaborative effort involving core members of my genomic medicine unit and leads from various clinics across the hospital. Our goal is to address and overcome the challenges in offering genomic medicine. We’ve launched initiatives like the standardization of preferred laboratories for genetic testing and the integration of genetic test ordering within the electronic health record system to streamline the process. Moreover, we created a Genetic Counseling Network led by Kristen Shannon to support low volume clinics with shared resources, ensuring equitable access to genetic counseling services across the system. Our Preventive Genomics Clinic and Fast Track Genetic Counseling service led by Leland Hull are tailored to assist primary care physicians and ensure a broader and more equitable offering of genetic services, facilitating pre-test counseling, test ordering, and result interpretation in a coordinated manner.

Question 3: Challenges and future of genomic data sharing.

The primary challenge in genomic data sharing is the effective sharing of individual-level data, both genotypic and phenotypic. This is due to consent requirements and the lack of harmonization in data processing across different sites. For instance, the cost of reprocessing genomic data from external sites to include in our gnomAD database is cost prohibitive except for a small amount of data. Standardizing data generation, storage, and structuring is essential to overcome these hurdles. In the future, the creation of large cohorts through programs like the ‘All of Us’ research program and the aggregation of harmonized global datasets will be crucial. Federated analysis, which allows for remote analysis without the need for data movement, represents a significant opportunity. This approach will enable the global scientific community to analyze and learn from a vast pool of genomic data while ensuring data integrity and accessibility.

Question 4: Ensuring data integrity and accessibility in remote data harmonization.

The balance between data integrity and accessibility is a critical aspect of remote data harmonization. One exciting development is the emergence of federated analysis, which allows for the analysis of data across large cohorts without the necessity of moving or downloading data. Recent collaborations, like the one between the UK Biobank and the ‘All of Us’ research program, have shown the potential of federated learning in making discoveries from datasets sitting in separate locations. This approach is poised to play a key role in advancing genomic science and medicine by enabling remote, yet secure, analysis of data across global cohorts. Standardization in data processing and structure, along with advancements in federated analysis, are the innovations I am most excited about as they address the current challenges and pave the way for a more collaborative and insightful genomic research landscape.



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