On the uses of genetic information in disease: An opinionated take on NEJM highlights for December 2018

Genetic trade secrets

In 2012, the US Supreme Court decided a case known as “Prometheus” establishing that therapeutic methods based on biomarkers were not patentable – this essentially blocked one of the two main avenues to monetizing intellectual property from the very hard clinical work of figuring out personalized medicine, i.e. what works for whom. The other avenue that would remain is that of trade secrets, and I for one, have been waiting for the other shoe to drop.  A hint comes from a study on ovarian cancer just published in the NEJM: patients were selected on the basis of having a BRCA1/2 mutation (either germ-line or from the tumor) in a genetic test administered by Myriad.  The trial which involved the use of olaparib (Lynparza, AstraZeneca and Merck) was a great success, but when the results were submitted for publication in the NEJM, the editors and referees became interested in knowing whether there would be subgroups for whom certain BRCA1/2 mutations would be predictive of outcomes.  This is what ensued:

“Despite a request from the Journal, Myriad has declined to provide the actual identity and distribution of the genetic variants detected in the patients in this trial for review or publication. They insist on keeping relevant patient data secret.”

Even though the study was sponsored by AstraZeneca and Merck, Myriad seems to have retained rights to the data, and reading between the lines, I can only guess that when AstraZeneca was asked about it, they said we don’t own it and therefore cannot share it. One wonders whether the future is for biopharma to use third parties to hold genetic data that is valuable, but may be challenging for them to handle directly.  Maintenance Olaparib in Patients with Newly Diagnosed Advanced Ovarian Cancer; Progress in BRCA-Mutated Ovarian Cancer (subscriber access)


Genetic information outside cancer and pediatrics: the example of kidney disease

While genetic testing has now become standard of care in cancer, its use is much rarer in other therapeutic areas. In a study that is pioneering in scale and thoroughness, a Columbia group of scientists leveraged exome sequencing data from 3315 patients with renal disease (2/3 with ESRD). They mapped the genetic data against a butterfly collection of 625 genes thought to have association with renal disease and got hits in 307 patients. For a vast majority of those patients, the findings informed either the prognosis, or treatment of their renal disease, or referral to another specialty (e.g. ENT) for management of a genetic risk, or a combination. Some implications: (1) this is a floor of what genetic analysis can do, and if the yield is ~10% now, it will be more in the future as new genetic correlations and causations are surfaced; (2) considering the burden of renal disease and the value of avoiding one ESRD case, this is high value data, (3) this research effort is touching the limit of what clinical specialists can possibly keep in their heads or in their cheat-sheet lists; automation via expert systems / AIs will be needed to go further. Diagnostic Utility of Exome Sequencing for Kidney Disease (subscriber access)


The New England Journal of Medicine is a premier weekly medical journal covering many topics of interest to the health sector. In this monthly series we offer an opinionated perspective on selected highlights that might be of interest to our clients and others.

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