Despite the wealth of data that has poured out of genomic science since the Human Genome Project, this data is only just beginning to change medical practice and save the lives and health of individual patients. A real medical revolution has been held up by many factors. Some of these factors are narrowly technological, such as the speed and cost of genome sequencing and the development and testing of safe and effective human gene therapies. Other factors, meanwhile, are largely practical, i.e. the methods and working conditions of basic science and the idiosyncrasies of individual clinical anecdotes clashing with the actual needs and conditions of doctors working day to day with patients.
The Oxford–UCL Centre for the Advancement of Sustainable Medical Innovation (CASMI) was established to break down barriers between basic research and the development and widespread adoption of useable, affordable new medicines. SENS Research Foundation is pleased to be funding CASMI’s first two doctoral students, Natasha Davie and David Brindley. Ms. Davie is investigating T-cell therapies for diseases of aging, while Mr. Brindley, in his role as CASMI Research Fellow in Commercialisation of Regenerative Medicine, is working on novel approaches to the risk-benefit evaluation of healthcare innovations.
In a new report, David Brindley turns his attention to protocols to ensure that discoveries in genomic science can be harnessed into effective tools for genomic diagnostics in clinical practice. The report highlights the need for new standards to ensure that the genomic diagnostic information that will increasingly inform clinical decisionmaking rests on a solid basis. Such “good genomic practice” (GGP) standards are most urgently needed for realizing the potential of personalized cancer genomics: the ability to diagnose a specific patient’s specific tumor, so that new and emerging therapies can be prescribed that target the specific mutations that are driving the disease, instead of one-size-fits-all treatment based on the mere anatomical location of the tumor.
To reliably harness the potential of genomic diagnostics requires that robust standards be in place across the entire spectrum of clinical genomics practice and its interface with basic genomic research. Such protocols must begin with ensuring patient privacy and informed consent, and continue through:
- Tissue sample collection (optimizing the minimization of invasiveness through reductions in biopsy size with the need for sample quality and representativeness)
- Reliable chain-of-custody protocols to track tissue samples and lab results (from the patient, to clinical collection, to lab analysis, to the clinician)
- Prevention of tissue sample contamination and mismatching
- Validation and standardization of the assay methods themselves
- Ensuring that patient genomes are compared with robust positive and negative controls
- Prevention and reliable resolution of discrepancies in the reported frequency and clinical significance of particular sequence variations (achieved through strong and standardized bioinformatics methods and reporting protocols).
Needless to say, this process is one of nontrivial complexity. But it is likely that the very act of navigating this complexity will begin to reveal the means to save and improve lives. Initially we expect the benefits of this work will go mainly to cancer patients, but genomic diagnostics will increasingly extend into all areas of medicine, and we need to get it right for all patients.
We congratulate and commend David Brindley (and coauthors Richard Barker of CASMI, and Anna Schuh of Oxford) for a thoughtful and useful report. And we encourage and support his ongoing research in such areas as developing strategies for robust and scalable cell-therapy biomanufacturing, and tailoring and reforming medical research regulations originally designed for drugs and mechanical prosthetics to accommodate the distinct needs of cell-based orthopaedic therapies. This work along with other CASMI efforts promises to help accelerate the translation of regenerative medicine research into patient benefits, a key goal for SRF.