Available on the American Society of Human Genetics' education resources is a CSER-developed Guide to Interpreting Genomic Reports, a just-in-time resource for non-geneticist physicians when receiving a genomic test report. This Toolkit's work was led by Sharon Plon from Baylor and Kelly East from HudsonAlpha, with support from the CSER Practitioner Education working group.
Moving the genome into the clinic
In the past, standard medical practice for genetic testing involved looking at one gene at a time. With new advances in our understanding of the genomic basis of health and disease and in technology, it is now possible to test all of our genes at once using tests called whole exome or whole genome sequencing. Medical uses of genome sequencing are being applied and adapted on a case-by-case basis, but research to study the optimal uses and implementation of these tests is needed.
To rapidly address these questions, the National Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI) have initiated a Clinical Sequencing Exploratory Research (CSER) program to support multidimensional research in this area. CSER is a national consortium of projects that bring together clinicians, scientists, laboratories, bioinformaticians, economists, legal scholars, ethicists, and patients working together to develop and share innovations and best practices in the integration of genomic sequencing into clinical care.
Exploring genomics of:
- Healthy individuals
- Preconception carrier screening
- Childhood cancers
- Adult cancers
- Susceptibility to colon cancer and polyps
- Intellectual disabilities
- Hearing loss