Our gastroenterologists are working with the Genome Center to investigate the genetic causes of gastroenterology disorders and move patients into appropriate treatment.
Using STAT-Seq, the Genome Center helped gastroenterologists diagnose a critically ill newborn. The quick diagnosis led to immediate treatment with intensive nutritional support to stimulate the newborn’s mitochondria. Physicians were able to rule out other possible diagnoses in a matter of hours, and shape the patient’s treatment within a critical developmental window.
The combination of the Hereditary Polyposis Clinic and the Genome Center is giving gastroenterologists the ability to investigate genotype and phenotype correlations to determine if a patient may be at risk for a certain type of cancer or a more aggressive form of cancer.
Improving treatment and diagnosis
Investigations also are underway to determine if there is anything in a child’s genotype that influences how he/she may respond to a particular therapy or drug. Additionally, exome sequencing is helping gastroenterologists examine the whole-genome of a patient with complex gastrointestinal conditions to diagnose additional genetic complications and prescribe appropriate treatment.