Uncovering monogenic forms of common diseases
The majority of adult genetic disorders fall into the category of complex diseases and traits, which are caused by a combination of genetic, environmental, and lifestyle factors. Some genetic disorders can be misdiagnosed as common diseases (such as hypertension and cardiovascular disease), some take several years to diagnose correctly, and many others remain undiagnosed. One research focus is to improve the diagnosis of adult genetic disorders using a combination of electronic medical record data and genomics, in order to enable personalized therapies and in some cases even a cure.
Interpretation and return of genetic research results
As sequencing and biobanking efforts continue to grow, the number of identified incidental findings, including pathogenic and likely pathogenic variants with potential clinical actionability, is rapidly expanding. With this comes a crucial need to develop methods for accurate variant interpretation and reporting. This exciting avenue of research capitalizes on the diversity of the BioMe biobank to understand variant frequencies in different populations, as well as data from the electronic health record of BioMe participants to evaluate penetrance and phenotype spectrums.
Provider adoption of genomic medicine
For genomic medicine to become a reality, the barriers and challenges to healthcare provider adoption will need to be overcome. As part of the IPM genomic medicine initiatives, we are identifying the various challenges to genomic medicine implementation from healthcare providers’ perspectives, and developing solutions and best practices to address them.