Meditations of an oncology geek

Does the end of gene patents mean rising demand for diagnostic sequencing?

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1 October 2013

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Last week I attended a fantastic panel debate on gene patents hosted by the San Diego chapter of Oxbridge Biotech Roundtable at The Scripps Research Institute. Rachel Tsui moderated a panel of four:

Pro gene Patents:
Lisa Haile
Anthony Kuhlman

Against Gene Patents:
Lisa Madlensky (Genetic Counselor at UCSD Moores Cancer Center)
Lana Feng (Founder, Personalized Diagnostics)

The debate itself was more of a discussion, with minimal rhetorical tactics used by either side. However, the debate could have been improved with a better overview of patent law in general; the nature of audience questions indicated inadequate fundamental knowledge about what was being debated.

That said, the questions and discussions were very good. A few ideas / questions that stuck out to me:

1) Along the lines of patenting a technique for detecting something “natural”: Is the Reference Genome actually “natural” or a best-fit amalgamation of the genetic heterogeneity of mankind? If so, perhaps this is not actually natural and could be patented in itself?

2) Companies holding gene patents usually do not sue academic institutions, though they can. It is in their best interests most of the time to let academic labs do research and publish, purportedly adding value to their patents. (Lisa Haile)

3) Currently, diagnostic sequencing of patented genes (in her experience as a genetic counselor) are not dramatically more expensive than non-patented genes. (Lisa Madlensky)

After the panel discussions and audience questions concluded, I had a chance to catch up with Dr. Madlensky on the topic of diagnostic testing. As a genetic counselor with decades of experience, she has literally witnessed the birth of the genomic age through the eyes of medicine. I always see a sense of irony about the incredible multitude of what we “know” about genetics and how little is used in the clinic. The reasons for this are multifaceted, but are quickly rising from esoteric to painfully relevant with the growing tide of the genomic age.

In particular, I was interested in the impact of platforms like Understand Your Genome from Illumina that aim to put personal genomic data directly into the hands of the consumer. The Understand Your Genome conference will take place next month here in San Diego, and for a $5000 ticket and a DNA sample, Illumina will provide participants with an iPad with their genome browser application containing participant’s entire genome! I could wax poetic about the dawn of personalized genomics and science fiction becoming science fact, but for I am most immediately concerned with the way this will affect the physician-patient relationship. I wrote recently about the harms of overdiagnosis in otherwise healthy patients and many of these concerns could be carried over for considerations relating to personal genomics and genetic curation.

I relayed some of these concerns to Dr. Madlensky, and she had a few perspectives to add to the mix. Although the FDA guidelines are evolving, there is regulation in place for diagnostic-grade sequencing information, and before making any recommendations in genetic counseling it is necessary to have gene(s) in question re-sequenced, usually via the Sanger method. Critically, diagnosis today is mostly phenotype driven, not genotype driven: physicians and genetic counselors do not usually go looking for things that could be “wrong” when no obvious malady is present. Even then, they do not usually do genetic interrogation without having other reasons for doing so, like presence of disease symptoms in the patient or a family history of such.

That said, there is a changing trend, and the rising genomic tide might entice more patients and physicians to use the emerging genetic tools for screening purposes. However, there is still one major gatekeeper for any medical intervention: the physician (as it should be, in my opinion. More on that some other time). The physicians’ recommendations and prescriptions, in turn, are regulated by follow-up medical grade sequencing diagnostics of individual genes. Given this scenario, it would not be too much of a stretch to imagine a hugely increased demand for diagnostic-grade sequencing tests and centers (private or public) and for qualified genetic counselors, as most primary care physicians are are not adequately trained in the nuances of molecular diagnostics to make use of the rising tide of personal genomics.

In summary:

The recent Supreme Court rulings will not directly, dramatically change the current medical genomic landscape for patients. However, it makes a smoother landscape for sequencing enterprises.

In the near future (less than a few years) we may all have our genomes on iPads.

Given this scenario, the rate limiting steps for medical action will still remain with physicians (I hope), and their actions are in turn limited by the availability of diagnostic-grade medical sequencing tests.

There might be vastly increased demand for FDA-approved medical diagnostic sequencing tests and centers.


Written by Ryon

October 1st, 2013 at 4:06 pm

Posted in Science Blog

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