In 1967, screenwriter and producer Gene Roddenberry created Star Trek and its world of futuristic space travel and medical gadgetry. Surgery and debilitating illness were often treated on the Starship Enterprise with the wave of a buzzing flashing “gizmo” and patient recoveries were rapid and remarkable. Today, as medical science continues to evolve, the medical world of Star Trek has never seemed so close to reality.
This week in the New York Times, an article was published describing the use of genetic testing to better treat infants and newborns with difficult to diagnose illnesses. Often, when babies are born and are not behaving normally or are struggling to survive, intensivists suspect genetic abnormalities. According to the Times, nearly 1 in 20 babies in neonatal intensive care units are born with a genetic disease of some sort. The search for a diagnosis and an effective treatment often involves multiple tests (many of which can be expensive, invasive or dangerous). Therapy for these undiagnosed disorders can be frantic, haphazard and empiric. Sometimes trials of different therapies in the absence of a diagnosis can result in further harm and are often futile.
A new method of DNA sequencing that allows researchers to identify specific genetic mutations in newborns has been reported in the magazine Science Translational Medicine. By rapidly sequencing the newborn patient’s genome, mutations and disease states can be identified. Although in some cases, the accurate diagnosis does not change outcome, it may allow grieving parents to make more informed decisions about care and may eliminate unnecessary therapies and testing. According to the report, scientists have identified genetic mutations for 3500 of the nearly 7500 genetic diseases; Moreover there are effective therapies for almost 500 of these disorders. This is a significant breakthrough in that it may allow for proper therapy to be initiated earlier in the course of the disease. Typical genetic sequencing can take weeks or months. The newly described method can provide rapid results in a matter of a couple of days in most cases.
Genomics is the future. Our DNA (Deoxyribonucleic acid) is what creates each person’s genetic individuality. Genetic sequencing and “personalized medicine” is the way diseases will be treated and ultimately cured in the future. By targeting therapies specifically to a patient’s genetic make-up, we can increase response rates, decrease the need for diagnostic testing and eliminate “trial and error” type therapies. It is truly exciting to think how we may be able to impact patients and cure previously incurable diseases. Cancer therapies may be specifically tailored to the specific genetics of both patient and tumor. However, these miracles do not come without cost. There are the obvious enormous financial issues involved in DNA sequencing and there are even larger ethical concerns that lurk around every corner. The type of DNA testing and sequencing that is discussed in the Times is reported to cost nearly $13,500. Genetically specific therapies may be expensive. In the case of genetic sequencing of a newborn, how do parents deal with information that may impact the child later in life? For example, what if the patient is found to be genetically predisposed to develop Alzheimer’s disease or Multiple Sclerosis or Diabetes in adulthood?
Information brings power, but can also bring with it difficult choices. Clearly, genomics and personalized medicine will allow for better outcomes. However, we must be prepared to deal with the ethical dilemmas that genetic knowledge will likely create in the future. Ultimately, genomics based therapy will save lives and reduce healthcare costs–we, just as Gene Roddenberry did in the 1960s, are about to embark on a journey “Where no man has gone before…”
Picture via screen capture from Star Trek video on YouTube