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OB/GYN Editorial MARCH 2005
The Case for
Preimplantation Genetic Diagnosis
J. Marik, MD
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In a recent issue of this journal, there was an interesting discussion in the Letters to the Editor section about the genetics and options
for dealing with cystic fibrosis (CF) (Brabec C. Preimplantation genetic diagnosis. The Female Patient. 2004;29[10]:10). In the article in question (Nolen AA, Rhoades ED. Population-based preconception and prenatal cystic fibrosis carrier screening: clinical implementation challenges. The Female Patient. 2004;29[8]:10-14), the reproductive options suggested by the authors included adoption, use of an egg or sperm donor, taking a chance and proceeding with pregnancy (with or without utilizing prenatal diagnosis), and preimplantation genetic diagnosis (PGD). In my view, the choice is obvious.
When considering these options, one should not be influenced by personal feelings—but I would guess that all of us are. Another factor in physicians' recommendations and patients' decision-making is a possible lack of full appreciation and full understanding of the advances in reproductive medicine. I believe that the authors' options were recommended for situations where both future parents were found to be carriers of one of the genetic abnormalities known to cause CF. But what are the options when only one of the future parents is diagnosed as a carrier of CF? To answer this question, one needs to consider that the CF genetic anomaly was identified roughly 15 years ago. Since that time, many more mutations have been discovered, and today the total exceeds 1,000. Thus, if a genetic counselor and an obstetrician advised a couple 10 years ago to go ahead with pregnancy where only one partner was known to be a carrier, the consequences could have proved—and I'm sure did prove—to be disastrous. This is because, in some of these cases, the other partner would be carrying a genetic defect that was not diagnosable at that time. Can anyone be sure that by the year 2010 we will not have discovered another 500 genetic mutations linked to CF? No, no one can.
Thus, the real problem today is what the physician should recommend to a couple where only one partner is a known CF carrier. In my view (and I am influenced by personal feelings as well as my experience in dealing with reproduction for 35 years), PGD is the obvious answer. There is not much downside to this particular procedure, and its risks are certainly acceptable. There is little doubt that this is the option to choose if both future parents are diagnosed to be carriers, but I believe it is also indicated even if only one partner is known to be a carrier. This is not only because the other partner might be a carrier of an as yet unknown genetic mutation, but there is obviously another significant reason to consider PGD. Cystic fibrosis carrier status may or may not be transferred to children. What parent wants to expose a child to the same dilemma that he or she faces? Who wants to pass along to their children one generation later the conundrum of weighing their own and their partner's genetic status, and deciding (as the authors suggest) among the available options? If these were my options, I certainly would decide that my wife and I should undergo PGD so that our children would not have to deal with the same problems.
One of the most frequently cited downsides of in vitro fertilization (IVF) and PGD is cost. This really should not be a problem, however. Medical insurance companies should cover this particular cost. It has nothing to do with infertility (which is frequently excluded in a majority of states in this country), but it is rather a preventive measure. And the choice for the insurance company should be simple: Are they willing to pay $10,000 to $15,000 for IVF/PGD now, or are they ready to spend $3 million to $4 million for medical care of a child who is likely to die young. And in addition to the cold consideration of money, there is the emotional impact on the family with a handicapped child whose life expectancy is limited. Caring for such a child places tremendous strains on the family's emotions, finances, time, and energy. And I know first-hand, because I have a handicapped child.
J. Marik, MD
Director, Institute for
Reproductive Medicine
and Genetic Testing
Tyler Medical Clinic, Inc
Beverly Hills, Calif
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