In simple Mendelian genetics, a single change in one gene can produce a large change in mortality. The National Human Genome Research Institute (NHGRI) will be funding genomics studies on Mendelian traits using a similar strategy.
NHGRI will fund a small number of centers, dominant centers you might say, and look for large changes. The sequencing centers that will benefit are the Broad Institute, Washington University, and Baylor College of Medicine. For the next four years, the big three will be dividing $86 million a year according to a press release from NHGRI. I’m not sure what algorithms predict a larger return from funding a smaller number of researchers, but the future looks like fun for those on a small budgets who can figure out how to slurp up the data and quickly spit out results.
Studies on Mendelian disorders will benefit from the proposed funding plan as well. According to the NIH press release, only half of the estimated 6,000 rare diseases, inherited in a Mendelian pattern, have been linked to a genetic cause. Although each disease is rare, in combination, these diseases affect approximately 25 million Americans. Today’s DNA sequencing technologies offer an unprecedented ability to find the basis for these diseases, particularly when the genomes of entire families are compared.
Which brings us to clinical sequencing and new interesting issues.
Earlier genetic tests raised all kinds of ethical controversies. Does everyone have a right to be tested? Should test results be shared with one’s family? Should parents be allowed to test children? Should someone have a right to know, to not know, etc. Identifying all the stakeholders and their issues can make your head spin.
And those tests typically looked at single genes.
Today, when we sequence a genome, we will find much more information about many thousands more genes whether we want it or not. Genome sequencing is like remodeling. A simple quest to check out a foundation always goes along with the chance of finding water leaks or ant colonies.
We could sequence a genome from a cancer patient for example, to determine the best drug for treatment, and uncover an undiagnosed predisposition to some other bad news of kind of trait. What doctor wants to share the news that they can cure someone’s cancer but that early Alzheimer’s gene they found, uh sorry, maybe you want to look into assisted living?
Many of us see enormous potential in genomic sequencing. But, in the end successfully using genomics will require us to go well beyond the work of developing the technology to prepare genome sequencing for the clinic. We’re going to have to prepare the clinic for genome sequencing.