Welcome to Whole-Genome Sequencing. It's a unique diagnostic assay-system designed to accurately map out a patient's entire DNA sequence, providing a framework for disease detection, prevention, and treatment. The once snail's pace of the process is now speeding up to the point in which en-masse use is no longer a pipe-dream, and the cost of the procedure has decreased exponentially. What began costing hundreds of millions of dollars per-sequence a little more than a decade ago is, quite literally, expected to cost less than a double-latte at Starbucks in the coming years:
So expect the "miraculous soon": your DNA will be sequenced. The proverbial road-map of all which ails you, and might, theoretically and genetically, ail your offspring, will be written; an eternal testament of your complete genetic makeup for scientists and medical professionals alike to examine. You might even choose to frame yours and hang it over your fireplace. No different than wedding pictures or photos of your college graduation, it will truly and unmistakably represent the unique you.
But back to that which ails you. And that which ails me diagnosed with one rare and one ultra-rare disease. And the millions upon millions of others diagnosed with the almost 7,000 documented rare diseases - hematological, immunological, neurological... And those with chronic, debilitating though more common illnesses. Those with cancers, chromosomal additions and deletions. Diabetes. Epilepsy. Parkinson's. And the list goes on. And on. And on.
Will genome-sequencing offer us cures? Will we be symptom-free healthy individuals within the next few years as many now hope? It's time to look at some fundamental, and depending on the severity and prognosis of your illness, perhaps disappointingly realistic facts:
1) Sequencing of the personal human genome is currently a diagnostic tool, not an implicitly curative one. It will give a 20/20 glimpse into what is wrong. It will be a fabulous tool - in fact it already is - in diagnosing mystery illnesses and diseases which might have flown under the radar of conventional assays and diagnostic tools. It will provide biomarkers, reference points that is, of diseases and disease progression. But again, sequencing is not curative. Think of it as the fancy machine they hook your car up to at the modern-day service station. It does a great job telling the technician what's wrong mechanically, but your car still needs to be fixed.
2) Tools are already in their infancy to edit genes. Perhaps you've heard terms like CRISPR and Cas9. Although promising - use the word revolutionary if you wish - there are no long-term studies of efficacy, and oh yes, complications. Let's not forget that in its infancy gene-therapy caused some rather unpleasant malignancies. Stem cell therapy has been fraught with a myriad of complications and setbacks. Cancer immunotherapy, for the most part, and for the most serious ailments is still in early clinical trials. None of these breakthrough therapies are, as yet, in anything even resembling widespread use. Much more work and much more investigation will be needed before the cut-patch-sew method of gene-editing is as easy and commonplace as tailoring your torn shirt. And when this segment of the curative process does come to effective fruition - providing there are no unforeseen complications, then what? Where are the hundreds-of-thousands of new geneticists, genetic counselors, specialty surgeons, and technicians who will be needed to "fix" us? The thousands of new clinics? Anybody who is expecting a Henry Ford-style assembly line of disease cut-and-paste might need to put off dreams of genetic "normalcy" for a quarter-century or so.
3) Genome-sequencing will no doubt direct pharmacological treatment of diseases, especially those of the rare variety. This is the drug that you need. But lets not forget that out of the 7,000 or so rare diseases, no more than 250 actually have an approved pharmaceutical therapy. Sequencing will not offer much in this case. What it will lead to is the opening of doors of the drug discovery process in pharma, biopharma, and biotech - gleaned genetic information and data will lead scientists to novel therapeutic targets. But with all of those diseases out there, the above industries will not be able to keep pace - not by a longshot. Which few conditions will it be feasible to focus on? Which possibilities will enter the pipeline? And which will enter the agonizingly slow-paced world of bringing new drugs from conception to bedside, a process which in itself can take 10 to 20 years?
Genome-sequencing is astoundingly and eminently fascinating. It deserves the labels of "revolutionary" and "breakthrough." The inherent potential should be considered immeasurable. But too many are being far too premature in pinning hopes of cures on this still-in-its-infancy technology.