2017 : WHAT SCIENTIFIC TERM OR CONCEPT OUGHT TO BE MORE WIDELY KNOWN?

Author, Regenesis; Professor, Harvard University; Director, Personal Genome Project.
DNA

You might feel that “DNA” is already one of the most widely known scientific terms—with 392 million Google hits and Ngram score rising swiftly since 1946 to surpass terms like bread, pen, bomb, surgery and oxygen. DNA even beats seemingly more general terms like genetics or inheritance. This super-geeky acronym for deoxyribonucleic acid (by the way, not an acid in nature, but a salt) has inspired vast numbers of clichés like “corporate DNA” and cultural tropes like crime scene DNA. It is vital for all life on earth, responsible for the presence of oxygen in our atmosphere, is present in every tissue of every one of our bodies. Nevertheless, knowing even a tiny bit (which could save your life) about your DNA in your own body has probably lagged behind your literacy of sports, fictional characters, and the doings of celebrities.

The news is that you can now read all of your genes in detail for $499 and nearly your complete DNA genome for $999. The nines even make it sound like a consumer pricing. (“Marked down, from $2,999,999,999 to this low, low price. Hurry! supplies are limited!”) But what do you get? If you are fertile, even if you have not yet started making babies or are already “done,” there is a chance that you will produce live human number 7,473,123,456. You and your mate could be healthy carriers of a serious disease causing early childhood pain and death like Tay Sachs, Walker-Warburg, Niemann-Pick-A or Nemaline myopathy. It doesn’t matter if you have no example in your family history, you are still at risk. The cost of care can be $20 million for some genetic diseases, but the psychological impact on the sick child and the family goes far beyond economics. In addition, diagnosis of genetic diseases with adult onset can suggest drugs or surgeries that add many quality adjusted life years (QALYs).

Would you take analogous chances on your current family (for example, refusing air bags)? If not, why avoid knowing your own DNA? As with other (non-genetic) diagnoses, you don’t need to learn anything that is not currently highly predictive and actionable—nor involves action that you’d be unwilling to take. You might get your DNA reading cost reimbursed via your health insurance or healthcare provider, but at $499 is this really an issue? Do we wait for a path to reimbursement before we buy a smart phone, a fancy meal, a new car (with airbags) or remodel the kitchen? Isn’t a healthy child or 10 QALYs for an adult worth it? And before or after you serve yourself, you might give a present to your friends, family or employees. Once we read human genome DNA number 7,473,123,456, then we will have a widely known scientific concept worth celebrating.