Genome sequencing services are increasingly being utilized by physicians and their patients in both research and clinical settings. Developing standards and procedures for the use of sequencing information in clinical medicine is an urgent need with numerous obstacles to integrity and storage of sequencing data, interpretation, and responsible clinical integration. The MedSeq Project, funded by … Continued
Publications
2021
A framework for automated gene selection in genomic sequencing
Genetics in Medicine
Jun 2021
2020
2019
The case for implementing sustainable routine, population-level genomic reanalysis
Genetics in Medicine
Dec 2019
Analyzing and reanalyzing the genome: Findings from the MedSeq project
American Journal of Human Genetics
Jun 2019
Reconciling opportunistic and population screening in clinical genomics
Mayo Clinic Proceedings
Jan 2019
2018
Cost analyses of genomic sequencing: Lessons learned from the MedSeq Project
Value In Health
Sep 2018
Automated typing of red blood cell and platelet antigens: A whole-genome sequencing study
The Lancet Haematology
May 2018
Why patients decline genomic sequencing studies: Experiences from the CSER Consortium
Journal of Genetic Counseling
Mar 2018
2017
A comparison of whole genome sequencing to multigene panel testing in hypertrophic cardiomyopathy patients
Circulation: Cardiovascular Genetics
Oct 2017
Communication challenges for non geneticist physicians relaying clinical genomic results
Personalized Medicine
Sep 2017
Navigating the research-clinical interface in genomic medicine: Analysis from the CSER Consortium
Genetics in Medicine
Aug 2017
The impact of whole-genome sequencing on the primary care and outcomes of healthy adult patients
Annals of Internal Medicine
Jun 2017
The price of whole-genome sequencing may be decreasing, but who will be sequenced?
Personalized Medicine
May 2017
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories
Genetics In Medicine
May 2017
When bins blur: Patient perspectives on categories of results from clinical whole genome sequencing
American Journal of Bioethics
Jan 2017
2016
Who decides and what are people willing-to-pay for whole genome sequencing information?
Genetics In Medicine
Dec 2016
RHD zygosity determination from whole genome sequencing data
Journal of Blood Disorders & Transfusion
Sep 2016
Genomic sequencing in clinical practice: Applications, challenges and opportunities
Dialogues in Clinical Neuroscience
Sep 2016
Clinical Sequencing Exploratory Research Consortium: Accelerating the evidence-based practice of genomic medicine
American Journal of Human Genetics
Jun 2016
Performance of ACMG/AMP variant interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research consortium
American Journal of Human Genetics
Jun 2016
Commentary: Appropriateness: A key to enabling the use of genomics in clinical practice?
American Journal of Medicine
Jun 2016
Patients’ perceived utility of whole-genome sequencing for their healthcare: Findings from the MedSeq Project
Personalized Medicine
Mar 2016
Participant and study decliners perspectives about the risks of participating in a clinical trial of whole genome sequencing
Journal of Empirical Research on Human Research Ethics
Feb 2016
Toward clinical genomics in everyday medicine: Perspectives and recommendations
Expert Review of Molecular Diagnostics
Feb 2016
Reclassification of genetic-based risk predictions as GWAS data accumulate
Genome Medicine
Feb 2016
The changing landscape of molecular diagnostic testing: Implications for academic medical centers
Journal of Personalized Medicine
Jan 2016
2015
Assessing the costs and cost-effectiveness of genomic sequencing
Journal of Personalized Medicine
Dec 2015
‘Someday it will be the norm’: Physician perspectives on the utility of genome sequencing for patient care
Personalized Medicine
Nov 2015
Are physicians prepared for whole genome sequencing? A qualitative analysis
Clinical Genetics
Jul 2015
How to know when physicians are ready for genomic medicine
Science Translational Medicine
May 2015
GINA, genetic discrimination, and genomic medicine
New England Journal of Medicine
Jan 2015
How behavioral economics can help to avoid ‘The last mile problem’ in whole genome sequencing
Genome Medicine
Jan 2015
A one-page summary report of genome sequencing for the healthy adult
Public Health Genomics
Jan 2015
2014
A systematic approach to the reporting of medically relevant findings from whole genome sequencing
BMC Medical Genetics
Dec 2014
Summarizing polygenic risks for complex disease in a clinical whole genome report
Genetics in Medicine
Oct 2014
2013
Genomic medicine in primary care: Barriers and assets
Postgraduate Medical Journal
Oct 2013
Reporting genomic sequencing results to ordering clinicians: Incidental, but not exceptional
Journal of the American Medical Association
Jul 2013
Ethics and genomic incidental findings
Science
May 2013