To this end, I am leading one of the groups involved in a consortium effort called the “Clinical Genomics Resource (ClinGen)” that includes two NHGRI-funded U01 projects, an NHGRI-funded U41 project, and the NCBI’s ClinVar database.  The overall goal of this consortium is to develop a publicly available knowledge-base of clinically-relevant genes and genetic variants, … Read more

How can next-generation sequencing be most effectively employed to enhance current newborn screening?  What types of genes and conditions should be sought in a healthy newborn?  How should parents decide what information they would want to know or not to know?  Are there certain types of information that should be withheld until the individual becomes … Read more

Should we start carrying out genomic “screening” in healthy adults?  What types of genes and conditions would provide the most valuable information?  What kinds of genomic information should we avoid?  What is the right population in which to carry out screening?  In what setting should the screening take place?  These provocative questions will be tackled … Read more

How can we best utilize genome-scale sequencing as a clinical diagnostic test?  What are the most effective ways of sifting through many thousands of genetic variants to find the few variants that are clinically relevant for the patient?  How should we manage the inevitable “incidental findings” that will be present in every genome-scale sequencing assay?  … Read more

Yet for many disorders we still only understand a fraction of the genes that (when mutated) cause disease.  Our lab studies individuals and families with likely hereditary cancer susceptibility in order to discover new candidate genes for monogenic forms of hereditary breast cancer, polyposis, and other cancer types.