Next Generation Disruption

by on August 29, 2014 in Genomics
Liquid Biopsies

by Deepak Dibya and Cyndi Eichelman

Recently, we attended the Next Generation Dx Summit in Washington D.C. The conference focused on diagnostics, new advances in the field, and the many complexities inherent in using them to improve healthcare. We caught up with several customers but also had time to attend several sessions. Of these sessions, three topics stood out: liquid biopsies, single cell sequencing, and reimbursement for molecular diagnostics.

Liquid biopsies can help detect cancers and gauge treatment response and drug resistance.

Liquid biopsies can help detect cancers and gauge treatment response and drug resistance.

Liquid biopsies. As technologies to detect mutant DNA in blood or serum improve, liquid biopsies have gained ground. For certain types of cancer, researchers are now able to detect various stages using only 5 mL blood or serum.  Lesser volumes work, but provide less sensitivity when it comes to detecting early stages. Liquid biopsies have the potential to better detect disease recurrence, evaluate a drug’s efficacy without surgical intervention, and provide a method of study when tumor tissue is unavailable. Scientists at Cancer Research UK (CRUK), one of our customers, have done some exciting work in this area. According to expert Dr. James Brenton, using biomarkers has been somewhat tricky, and advances in liquid biopsy expand opportunities to learn about treatment response and drug resistance. CRUK Cambridge Institute is leading the charge in this work by establishing clinical trials in which they monitor patients’ DNA levels to guide treatment decisions [i].

Single cell sequencing. Many speakers addressed the topic of single cell sequencing. Although not a new topic, next generation and whole genome amplification advances enable more straightforward sequencing of single cells. Some sequencing centers are using this type of sequencing to gain greater insights into the evolution of tumors. Dr. Jan Vijg from the Albert Einstein College of Medicine gave an engaging talk on aging and cancers. As we age, we accumulate more mutations and therefore our chances of getting cancer increase. Single cell sequencing provides granularity about how mutations accumulate as we age [ii]. Other experts reiterate its utility and are hopeful that better technology design and throughput will make it more cost effective in the future.

Reimbursement. Of all the topics discussed, reimbursement was the most provocative and prevalent. In fact, while writing this blog, an invitation to the Evidenced Based Reimbursement Summit flashed across our inbox! Reimbursement for molecular diagnostics remains complicated because it involves many stakeholders and is set against complex and dynamic healthcare systems.

Illumina's MiSeq is used in many clinical labs for diagnostic testing.

Illumina’s MiSeq is used in many clinical labs for diagnostic testing.

For starters, tightening healthcare budgets and the advent of numerous new (and expensive) tests pit payers and test makers against each other from the get-go. There have long been issues with the existing coding system for reimbursement and how it doesn’t support the complex needs of these tests. Additionally, the FDA recently expanded its definition of a Laboratory Developed Test (LDT), flooding the space with more requests.  All of these challenges make it difficult for payers to respond as they have in the past. As a result, reimbursement appears to be digressing instead of progressing. Not surprisingly, many organizations are operating in a state of ambiguity.

However, what’s clear is that these payers need data to prove that tests are cost effective and validity that the test has widespread clinical utility. And what is also painfully clear is that the current model is broken, and we must disrupt this space with creativity if these diagnostics are ever to become mainstream.

At the summit, Drs. Madhuri Hedge from Emory Genetics Laboratory and Andrea Ferreira-Gonzalez, from the Molecular Diagnostics Lab at Virginia Commonwealth University described how they take creative approaches to disrupt this space. One strategy mentioned includes offering a diverse set of sequencing services and choosing the best method for the patient and the information required. And both of their labs are focused on keeping costs as low as possible to offset what payers aren’t paying [iii].

End-to-end sample traceability from Clarity LIMS helps labs become more efficient.

End-to-end sample traceability from BaseSpace Clarity LIMS helps labs become more efficient.

BaseSpace Clarity LIMS routinely helps our customers with these tactics. Customers report gaining efficiencies through BaseSpace Clarity’s sample tracking and automation features.  The preconfigured workflows for common sequencing platforms help customers stay on top of different technologies and complex workflows. And end-to-end sample tracking and regulatory features help organizations work with patient populations to meet that number one requirement: that their tests are cost effective and clinically valid.

Translating new scientific discoveries into the mainstream requires disruption. BaseSpace Clarity LIMS will help you organize your lab so you can go forth and disrupt.

Learn more about BaseSpace Clarity LIMS.

  2. Next Generation Dx Conference program, Why Single Cell Sequencing? August, 2014. 
  3. Next Generation Dx Conference program, Next-Generation Sequencing in Clinical Practice: Case Reports of Clinical Utility and Reimbursement. August, 2014.