Genomic Healthcare
Emergence of genomic medicine in healthcare. Challenges encountered in implementing genomic medicine, significant amounts of time-consuming prep work means clinical and bioinformatics resources are not utilised optimally. Insights potentially valuable for new diagnoses are trapped in silos and historical datasets.
Optimise speed to diagnosis, uncover new diagnoses and reduce costs.
Challenge: A DNA testing lab is introducing a large gene panel test for haematological malignancy that will replace multiple single-gene tests. The new test will result in a standardised testing workflow across multiple indications and lead to improved patient outcomes (precision oncology) at marginal increase of ~$200 in cost per case.
Problem: 5-person clinical bioinformatics team spending too much time writing and validating the custom scripts needed to interrogate genomic datafiles.
Solution: XetaBase provides a pre-validated platform on which to develop much simpler informatics pipelines.
Value: Savings measured in weeks of Clinical Bioinformatics time per test. With labs currently introducing 5 tests per year XetaBase delivers savings measured in months.
Challenge: DNA testing lab ramping up from 10s to 1000s of rare disease clinical exomes per year.
Reason: To avoid wasted time and cost from multiple, sequential single-gene tests needed before “hitting it lucky” (can take years).
Problem: Current exome testing workflow requires a clinical scientist to manually sift through the results from each test.
Solution: XetaBase can triage cases; flagging the easy ones for the clinical geneticist and leaving only the tricky ones for review by the clinical scientist.
Value: Saving of several months of Clinical Scientist time over the year.
Challenge: Reanalysis of 2,000 genomic tests that a lab has performed over the past 5 years.
Reason: New information may be available now that was not originally that could lead to a diagnosis
Problem: Genomic data from historic tests are hidden and inaccessible in datafiles on the filesystem
Solution: Load everything into XetaBase so it’s conveniently available at all times.
Value: Increased diagnoses from data already gathered with no extra spend on new tests. A ≈5% increase in yield represents 100 new diagnoses; additional RoI from tests and priceless clinical information for families.
Challenge: Patient referral by genotype to precision oncology trials.
Reason: Well known direct and indirect benefit to both patients and clinicians from participation in clinical trials.
Problem: Genomic data from historic tests are hidden and inaccessible in datafiles on the filesystem
Solution: Load everything into XetaBase so it’s conveniently available at all times.
Value: Recruiting patients to precision trials is time consuming and competitive. CROs reimburse clinicians up to £10,000s per patient referral to clinical trials.
External quality assurance – enables store and analyse consolidated EQA results.
Improved test interpretation – enables cross-referencing of and learning from historical cases.
Service consolidation – enables return-of-result services across multiple hospitals.
Contact us to find out more about how Zetta can help DNA testing labs along their genomic medicine journey.