Feature Articles: Genetics for the Year 2000Guest Editor's Note:What? Is the Duval Medical Society just coming out with another trendy article to cash in on the new millennium hubbub? Of course not. This is a simply a continuation of the first installment back in 1994 about the "Future of Medicine." Where are we now after the halfway point in the Human Genome Project? What are the fruits of the new gene discoveries? What new systems have been successful to speed the pace of new discoveries? What diseases are being battled in new ways? Judging from the movies genetics seems to have all the answers. Genetics still holds the mystique that it had at the beginning of this century. Medicine is slowly catching up to the potential that TV shows and movies have been telling us about. The movie industry has many plots (>100 films) that center on genes, mutations, and genetic control. From Orwellian ideas to the mutation potential in `DNA', and `Virus'. Not to mention the human aspects of life and what the future will tell us about ourselves. The negative use of genetic information is fictionalized in the movie with the genetic sequence in the title — `GATTACA'. In the film GATTACA the knowledge of ones genetic code is used to determine if one is or is not qualified for a skilled job. The society depicted in GATTACA was devoid of imperfections. ALL the genetic anomalies or mutations had carefully been eliminated in the society of the future. Although this may be a good premise for a film, the science is very flawed. The film's premise represents a simple, common misunderstanding of genetics, the whole idea that flaws in the genetic code could be eliminated. This is impossible. In fact, genetic mistakes keep recurring every day of our lives, in every one of us. More science that is over looked is the fact that there are many genes dedicated to the maintenance and repair of DNA and chromosomes. Many spontaneous mistakes are quickly eliminated. A single cell with a mutation may be a problem for that cell, but seldom is it the cause of serious problems for the body as a whole. In fact it may never cause a problem, if that gene is in a somatic cell that does not use it. Oh well, I am not a play-write. Besides what ever happened to the Nurture side of… Nature versus Nurture. Genetics also seems to fuel the film ideas from the compassionate side as well. This other human-side of genetics is portrayed in two movies made in 1998— Simon Birch and The Mighty. Both of these films present the trials of a child that is affected by being physically different. In fact, both stories are based on the same genetic disease—Morquio's syndrome (Type 4 mucopolysaccharidosis.) The cast of `The Mighty' includes Kieran Culkin, Sharon Stone, Elden Ratliff, and Gillian Anderson. The cast of Simon Birch includes Ian Michael Smith, Joseph Mazzello and Ashley Judd. Ian Michael Smith is affected with Morquio's disease in real life. Although the second film uses an actor affected with a genetic condition, they refrain from using the name of the disease. Rather it is the mythical adventures the two boys share that tells their story. Both films embrace the triumph of the human spirit. The future holds many new discoveries both for the rare and for the common. Genes control many divergent disease processes. So any condition — aging, heart valve disease, myocardial infarction, or renal failure could potentially become treatable. What will the future bring? What great changes are afoot? Will recombinant enzymes replace the scalpel? Will hospitals be replaced by shopping malls that have Genome Treatment Centers? What abuses of the knowledge will result? Will the eyes of big brother be watching? Will we be less tolerant of those that know their genetic flaws? Should third party payors and potential employers be allowed to access your DNA? The articles in this issue cover a range of medical topics about genetics. Each attempts to deal with clinically relevant issues, that are taking place here and now. The neurology article provided by Dr. Boylan covers some of the advances in the genetics in neurologic disease in the past 10 years and how this has started to change the approach to diseases. Also, evident is the long road ahead to really get a handle on some of these diseases, and to hopefully make an impact on therapy. The sports medicine article, written by Dr. Schelonka, touches on medical topics that are often overlooked in the arena of the professional athlete. But behind the million-dollar multi-year deals there are many armchair quarterbacks that sometimes neglect their family history. If the parent has a disease that they died from at a young age then the child should heed that warning and pursue sound medical advice -- think Genetic! Jill Hendrickson's contribution brings to focus the human aspects involved in the vast diversity of genetics. Even though the genes are different, and the inheritance pattern keeps changing, the one thing that is constant is the human side. Genetic conditions affect real human beings, and the effects are profound to themselves and their families. My contributions include a fresh look at the progress of the Human Genome Project, with discussion about a few new lab techniques and new discoveries and some comments about cloning. The vignettes found throughout the articles are some of my personal experiences that tie into the human and family aspects of what are every day problems in the life of a medical geneticist. And lastly, for the avid learner there is a list of websites to check out. Some give more medical information about the genome project, others cover government agencies involved in the project, and support groups. The monumental task of putting all the information to use will be the project for the next millennium. Anthony Perszyk, M.D. Jacksonville Medicine / February, 1999What's New
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