Category Archives: Genomics

The power law relationship in drug development

Posted on by

All opinions are my own and do not necessarily reflect those of Novo Nordisk.

A few weeks ago a friend and I had the great opportunity to go see Nate Silver speak at the University of Washington. He’s a funny, engaging speaker, and for someone like me who makes his living generating and analyzing data, Silver’s work in sports, politics and other fields has been inspirational.  Much of his talk covered elements of his book, The Signal and the Noise, which I read over a year ago. It was good to get a refresher. One of the elements that particularly struck me this time around, to the point that I took a picture of his slide, was the concept of the power law and its empirical relationship to so many of the phenomena we deal with in life.

Nate Silver graph small

Figure 1: Slide from Nate Silver’s talk demonstrating the power law relationship in business–how often the last 20% of accuracy (or quality or sales or…) comes from the last 80% of effort.

Because I spend way too much time thinking about the business of drug development, I started thinking of how this concept applies to our industry and specifically the problem the industry is facing with creating innovative medicines.

Continue reading →

Genetic counseling at Illumina

Posted on by

All opinions of the interviewer are my own and do not necessarily reflect those of Novo Nordisk.

Illumina is the industry leader in high-throughput sequencing platforms and over the past decade has employed a fascinating mix of innovation, creativity in approach, community engagement and aggressive exploration into different business areas. I recently had the opportunity to interview Erica Ramos, who works as a clinical genomics specialist and certified genetic counselor in the professional services group within Illumina’s CLIA lab, about Illumina and genetic counseling.

Kyle Serikawa:  Can you describe what Illumina is doing in the field of genetic counseling? That is, are you creating a genetic counseling service, or advocating an increase in training of genetic counselors, or creating materials to facilitate counseling?

Erica Ramos: So Illumina has four full time genetic counselors as part of their services group. We don’t provide direct services to patients; Illumina’s model is to provide support to the providers, the physicians. We support what’s being done in the genetics core at Illumina. As for training, we offer opportunities for that. Every year we welcome a second year student in genetic counseling for a 10 week, part time rotation. We’ve done about 5 of those so far. It’s an opportunity for those students to see how genetic counseling skills can be applied to a non-clinical setting. We see the internships as a way to engage these people who will go on to become genetic counselors. Illumina is also a very active in the genetics community, including membership in the American College of Medical Genetics and other organizations.

KS: Given the current landscape of, for example, exome and whole-genome sequencing, it seems like genetic literacy will become an increasingly important skill—both for understanding how genetic variants can be interpreted and also how genetic information will be communicated. How is Illumina thinking about educational needs in genetics?

ER: The genetics community as a whole is concerned about the need for wider understanding of genetics to help inform medical practice. From Illumina’s standpoint, one of the things we can do is to support the internships I’ve described as a way to provide exposure to non-clinical roles for genetic counselors, which broadens the potential market. Also, we’re providing a training option that maybe not all academic programs can support. At the same time, the universities themselves can see the developing need, and through supply and demand we hope to see an increase in the number of genetic counselors being trained.

There is also need for the education and updating of other professions. Physicians, nurse practitioners and others. Illumina has put on the “Understand Your Genome” symposia to work with providers who don’t currently have as deep an understanding as they would like.

KS: How do you see genetic counseling as synergizing with Illumina’s business interests? Continue reading →

Tall poppies, tall corn and creating the right environment

Posted on by

All opinions my own and do not necessarily reflect those of Novo Nordisk.

The first time I heard the saying, “Cutting down the tall poppies,” I was in Australia, over 20 years ago, talking to an Professor who was a US expatriate and working at the University of Queensland.  I’ve heard it since in conversations with people from the UK, Denmark and other countries.  The specific connotation in each culture differs somewhat, but the general underlying meaning is that those who rise above the crowd should in some way be brought back down to the level of everyone else. This might be in a physical and material sense, or in an attitudinal way, as in, “don’t think you are better than us just because of your (choose one) wealth, success, position, knowledge, etc.” An egalitarian sentiment, to be sure, but one that sounds odd to someone raised in the US, where individual attainment and excellence are among the key values.

I often contrast that idea to the following story about tall corn.  I first heard it from Professor Michael Freeling when I was a graduate teaching assistant at UC Berkeley, and assigned to TA for his class on Genetics and Society. This was an undergraduate survey class and on the first day, a freshman stood up (aren’t freshmen cute?  Always so earnest and ready to play “stump the Professor.”) and asked Michael where he stood on the question of Nature versus Nurture.

Michael’s answer was to describe his own work in maize genetics. Take a handful of genetically diverse maize kernels, he said, and sow them in a field and see what happens.  You get plants growing to a variety of heights, and each plant will give you different yields. Take another handful of kernels from the same batch and plant them in a greenhouse.  Give them fertilizer, gro-lights, plenty of water, keep out bugs and other pathogens. Then you’ll see the plants growing to more or less the same height, and yielding similarly, every ear on every one.

Continue reading →

Biopharma should choose targets using a baseball-style draft

Posted on by

All opinions my own and do not necessarily reflect those of Novo Nordisk

I was sitting around last evening checking out how the end of my fantasy baseball season is working out (for the record, first out of ten in one league and fourth in the league I wrote about here) and I starting thinking again about the parallels between baseball and drug development (which I previously wrote about here and here for example, and also Stewart Lyman has a nice piece on a similar theme here). And it hit me that there’s another way in which biopharma could take a  page from baseball: fantasy and Major League Baseball both.

Biopharma could institute a draft for drug targets.  And to explore this I’m going to employ the time-honored, not to mention trite and artificial, format of a series of questions and answers.

Continue reading →

What would you want to do with genome sequence data?

Posted on by

All opinions are my own and do not necessarily reflect those of Novo Nordisk

In the same issue of Nature that reported the HeLa sequence and the NIH agreement, Martin Bobrow of the University of Cambridge wrote a column discussing how we as a society choose to balance individual privacy and public good that arises from making data gathered from private samples public.

We are entering a strikingly different period of biological and biomedical research, as a number of different areas of research and technology are reaching a critical point of cross-fertilization.  Moore’s law has resulted in computers of amazing power that can analyze really stupendous amounts of data.  I was at the Seattle Museum of History and Industry recently, and in one of their displays they showed a 1980 IBM PC, and while showing it to my son, I pulled out my smartphone and told him that my phone today is just as powerful as that computer was.  Of course, I was wrong.  My phone is actually about 2.5 orders of magnitude more powerful than that PC. Continue reading →