What a remarkable age this is.

Medicine, once the realm of quacks, charlatans, and self-trained mystics, is now a hard quantitative science. Diseases, which once claimed the lives of millions, are being held at bay by antibiotics and supportive therapies. Disorders, including asthma, diabetes, leukemia, cystic fibrosis, hemophilia, and immunodeficiency (bubble boy disease), have effective treatments.

People who used to die young are living fuller, longer lives and experiencing those things the rest of humanity take mostly for granted - like school, friends, romance, jobs, and hobbies.

Like having children.

Children. These offspring will carry the recessive genes that will propagate the disorder or the tendency for it through another generation - as a statistical certainty and not as an unlikely genetic roll of dice.

In this new world, survival is not only of the most fit or fortunate. Society now enables the less fit and previously ill-fated to reproduce, spreading the genes responsible for malady throughout the population.

By promoting medical meddling, we are polluting our already contaminated gene pool. But, if the alternative is sacrificing innocents to the ravages of such horrible conditions, what other decision can we make? What else can we do? By our compassionate resolution of this problem have we created a bigger one?

Are there any good answers to be found? Are there options?

Yes, but the right questions are sometimes very difficult to ask and the cost of our options may be higher than what we're willing to risk.

Trade-offs and compromises are basic equations of the human condition. Inescapably, there is an evil for every good or one step back for two steps forward. But malevolence would still exist if we banished benevolence and backsliding would occur more quickly if society failed to forge ahead. It is in our nature to debate all sides of an issue but in the end our kind will favor acts of commission over sins of omission. In medicine, 'do no harm' never will mean 'do nothing'.

You inherit a house. In all respects the house suits you - except one. The inspector determines that the plumbing, throughout the entire building, is corroded. You are faced with a difficult choice.

Moving out. But you like the house, and wish to stay.

Putting pans under all the drips. Doable but the pots need emptied daily. The deficiency is unchanged and is likely to get worse.

Replacing the sections that leak. A time consuming prospect but practical. The basic problem lingers however and at any moment another hole may develop.

Or you can tear out all the pipes and install replacements that are plumbing state of the art. Very expensive and is the procedure worth the inconvenience or effort?

In genetic disorders the only way to 'move out' is allowing the victim to simply die untreated, which is contrary to medical ethics. The patients could be sexually sterilized and thus prevented from reproducing, permitting them full lives but avoiding the transmission of defective genes to another generation. Such abhorrent Hilter-esque eugenic tactics would offend most people's sensibilities.

Current medical therapies are analogous to changing drip pans. We minimize present damage, prolong life expectancy, but change nothing - except to increasingly gamble with the health of our unborn descendents.

What other choices remain?

How about genetic therapy? The side effects of peeing in the gene pool shouldn't be ignored. Do we want to continue to apply patches to the pipes or would considering a permanent solution be a better choice?

Though limited to disorders that have a single deficient gene locus flaw, biogenetics may provide the ultimate key.

Somatic genetic therapy has been studied since mid-1980 with partial successes coming in the decades that followed. Patient's cells are harvested from the specific dysfunctional tissue, transformed by adding the right gene, and reinserted using a mutated virus as the vector. The re-engineered cells perform the heretofore impossible task of normal function whether that be clotting, insulin production, chloride channeling, immune response, or cell division. Also, there have been a few cases where the reinserted material has been misdirected by the vector to inappropriate loci and caused other damage. One child developed a T-cell proliferative leukemia-like condition and a teenager with liver disease died after receiving the somatic therapies. The other drawback, besides expense, is that this procedure is a treatment not a cure. The transplanted cells have a limited lifespan and will die, usually within a year. The gene flaw hasn't been repaired, future interventions will be required, and the disorder will continue in the patient's progeny.

Germline therapy, highly controversial and still in its scientific formative years, may be the closest thing to a more immediate cure. Though using many of the same techniques as somatic therapy, in germline treatment stem cells, which are the precursor to all tissue, are used instead of specific cells from the effected organ or tissue. The redesigned stem cells are infused after the patient's bone marrow is partially eradicated. The new population takes root in the bone, reproduces, and gradually these genetically repaired cells make their way to the proper tissue or organ and permanently restore function - at least well enough to avert the previous symptoms.

While it is so far unknown whether the germline technology will alter the transmission of the disorder to future generations, since the therapy has been used primarily in children and the patients are still sexually immature, most researchers believe not.

Germline genetic therapy is a cure for the cellular dysfunctions caused by the underlying disorder but not the faulty gene itself.

In 1998, Dr. W. French Anderson, who is a pioneer of genetic therapy, posed the ethical question of fetal intervention - of curing the disorder before the patient is even born. This has huge implications due to the plasticity of prenatal development. By introducing the re-engineered cells in the fetus, the therapy would, for the first time, change the way human genes are passed on to future generations. The person would not have the disorder, at any level of cellular function, and could not transmit the trait.

Proponents dwell on the remote hope of someday correcting these disorders and predict that, within a few generations of implementation, the faulty genes would be eliminated from the human genome altogether.

Opponents disseminate the fear that probable abuses of the technology - designer children enhanced for strength, beauty, or intelligence - wouldn't be far behind the legitimate medical benefits.

Fundamentalists claim it is not our place to 'play God', perhaps ignoring the fact that, by keeping the afflicted alive and healthy, we already may be interfering.

We cannot unlearn or erase the knowledge nor would it be ethical to disregard these cures because of the specter of misused technology.

The science required for fetal cures is nascent and will take years to develop. In the meantime, we must weigh the advantages against the harm. What direction shall we take at this crossroad? Of all our choices, turning about and going back is the only impossible one.

Hope or fear? Which will dictate our decision?

References:

Lauran Neergard, Associated Press, Gene Ethics

Steve Bunk, The Scientist, Gene Therapy Soldiers On

Jaan Suurkula, MD, The Failure of Gene Therapy

Crystal Schilling, Gene Therapy

John Kimball,Gene Therapy

L. Baskin, M.D, et al, "Preconception and Prenatal Screening for Cystic Fibrosis," MLO, October 2002

Image: Johnson Space Center

      Lisa Binkley works within the medical industry and is the popular author of this health series in the Kudzu Monthly. She serves as the fiction editor of this ezine and also edits for the online science fiction magazine Distant Worlds.
      Lisa maintains a website for her own original fiction and poetry called Jolie Howard Fiction.

      As Lisa phrases it, "Woman, wife, worker, writer. We all wear many faces and fill our niches as best we can."

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