Genetic Screening

Talysia Howell

Copyright 1999

Genetic screening is the testing of variations in gene sequences in protein or DNA. Protein screening is easier, but DNA screening is more powerful. It is a 'physical screening for a protein or genetic abnormality that may allow detection of a disorder before there are physical signs of it, or even before a gene is expressed if it acts later in life.' (web). This is a technique that is used on nonhuman species such as plants and some animals and is not questioned. The real question is if we should use it on humans.

The procedure of genetic screening is the binding of a probe to a DNA molecule of the patient. Complementary DNA nucleotide sequences bind together, so the probe is single stranded DNA that binds to it's "mate" in the patient. Scientists try to use probes that are independent of family history, so there is no consent or samples needed from parents of the patient. The patients DNA is analyzed by Random Fragment Length Polymorphism, of RFLP. The DNA is cut by restriction endonucleases, separated and examined. The results are not always clear. Many diseases have mutations, so this makes screening even more difficult, and only the common mutations are screened for. There is also the problem of expressivity of the disease. It may be more or less severe in one patient than another because of age, progress speed, multiple gene activity, or ant number of environmental factors. Also, many diseases arise spontaneously and are not inherited from either parent and cannot be screened for.

There are many ethical concerns with genetic screening, just a few are social and physiological problems, the use by insurance companies, "ordering" a baby, selective abortions, more embryos made than implanted, and quality and reliability of services. These question may seem far fetched and not real concerns, but in the near future, any parent may be able to order a baby. This is not like the rich parents of today ordering babies that meet strict qualifications off the internet, this is genetically choosing the traits of an unborn child, and maybe disposing of embryos that are insufficient. Here also lies the problem that came with the abortion issue : when does life begin? Is it at the embryo stage, the third trimester of pregnancy, or at birth? Is disposing of embryonic tissue murder?

The social and physiological problems include the conscience of the parents about the results, the results themselves, and what they can do to the parents of unborn screened children. If all tests came back normal, it would alleviate worry by the parents and if there are problems that can be treated immediately, they can be taken care of. But some say let nature take its course. After a screening, there are many decisions to be made. These decisions used to be made after any pregnancy: keep, abort, or give the baby up for adoption. These decisions used to be made solely on the ability and want of the parents to take care of the child. Now there are a whole new set of rules. These parents may know the sex of the baby and what diseases it may be susceptible to. These are concerns of many new parents, but being able to select for these traits would be a dream come true, for some. "Within a decade or two, it may be possible to screen kids almost before conception for an enormous range of attributes, such as how tall they're likely to be, what body type they will have, their hair and eye color, what sorts of illnesses they will be naturally resistant to , and even, conceivably, their IQ and personality type." (Lemonick). Parents may be able to insert genes and not only select against undesirable genes. Lemonick goes on to say that it will eventually be like buying a car and selecting options. This is a very scary thought. What would the world be like if all people were perfect and there were no faults? The birth of a baby is the most wonderful thing parents can go through, or it is supposed to be. Nature gives the gift of life and we as humans are never satisfied, we have to do better. We have to modify everything we see, even if it is our own children. What if the screening was wrong or there was a lab mix-up and they disposed of the wrong baby, would the baby that was born have the same love and affection from its parents or would it be "disposed of" like it should have been?

The use of this screening by insurance companies is a scare for many people. "Knowing you are susceptible to breast cancer or diabetes would be invaluable to an HMO looking for ways to screen out riskier candidates and thus keep costs down - and profits up." (Hallowell). But, thirty states have already passed laws prohibiting such screening for jobs and insurance. Thankfully, because "everyone is susceptible to one disease or another." (Hallowell). But will that statement ring true forever? If the babies are selected for healthiness, then there will be an elimination of some diseases, and maybe not everyone will be susceptible to something. Maybe no one will be susceptible to anything and we will live forever! I find that just as scary as "designer babies". "Five years ago, most Americans rejected the Clinton Administration's proposals for a larger government role in managing health insurance. But if genetic testing starts to have a real impact on their health-care coverage, they could have second thoughts, and may seek refuge in some form of nationalized health insurance. In that case, it will be up to the insurance industry to offer a free-market alternative that Americans find palatable." (Hallowell).

There is a large market for genetic screening in commercial and pharmaceutical business. The public needs to be educated on the reality of its use and ability. Like previously stated, the results are not always clear. It may be of great benefit for people to know what diseases they are susceptible to, to take the necessary precautions earlier in life. Presently, all babies born in hospitals are screened for PKU (phenylketonurea), because it is treatable disease if treated early and if left untreated causes severe mental retardation. The genetic screening process could be comparable to the vaccines children receive today. It may be "an extension of preventative medicine" (web).

In 1968, the World Health Organization (WHO) recommended criteria for a condition worthy of a screening program:

  1. The condition sought should be an important health problem.
  2. The natural history of the condition should be adequately understood.
  3. There should be a recognizable latent or early symptomatic stage.
  4. There should be a treatment.
  5. There should be an agreed upon policy on whom to treat as patients.
  6. Case finding should be a continuous process, not a once and for all project.
  7. A suitable screening test should be available.
  8. The teat should be acceptable to the population.
  9. Facilities for diagnosis and treatment should be available.
  10. The cost of case finding (diagnosis and treatment) should be economically balanced in relation to possible expenditure on medical care as a whole.

If there is to be a mass screening, it has to be voluntary, there has to be widespread education about possibilities, wide access to the population, quality assurance an screening and treatment, good public registers, and ethical and scientific training of screening personnel. (web). But even after these criteria are met, there is still the concern of geneticophobia, or the social discrimination. There is always a fear of the unknown, even if some of the people are educated, there will always be some that are not; and even if all people know the risks and benefits, they will never agree.

I think genetic screening is a good piece of technology. It has saved a large number of babies from living with PKU, it can help people treat diseases earlier, be prepared for late onset diseases, and take the necessary precautions to prevent a disease they are susceptible to. These are wonderful advances in the health technology. What I would hate to see in the future is for parents to order children with "all the options". Something wonderful can always turn to something terrible in the wrong hands. There has to be a line drawn somewhere, and that is the question, where? And even if there are laws prohibiting, there are people who do not obey the law (to the letter). There is still something to be said about marrying for love (and not genes) and letting nature take its course.


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