Thomas A. Sharon, R.N., M.P.H.

Our \ethical concerns arise from our cultural mores, personal values and religious beliefs. I recognize that others may be comfortable with what I view as an ethical dilemma. While I was researching local genetic testing facilities in the Miami, Florida area, I reviewed the services that are available to would be parents at the Victor Centers for Jewish Genetic Diseases (University of Miami, Miller School of Medicine 2012). Currently, there is a procedure that allows a low risk extrapolation of DNA material from a ten-week old fetus in utero. This fetal DNA sample can be tested for any one of 17 genetic diseases some, of which, like Tay-Sach’s doom the child to a grim prognosis of progressive deterioration and death over a few weeks to three years (The Victor Center for Jewish Genetic Diseases 2012).

Bloom syndrome

Canavan disease

Cystic Fibrosis

Dihydrolipoamide Dehydrogenase Deficiency

Familial Dysautonomia

Familial Hyperinsulinism

Fanconi Anemia type C

Gaucher disease

Glycogen Storage disease Type 1A

Joubert Syndrome

Maple Syrup Urine disease

Mucolipidosis type IV

Nemaline Myopathy

Niemann-Pick disease Type A

Spinal Muscular Atrophy

Tay-Sachs disease

Usher syndrome Type 1F

Usher syndrome Type III

Walker-Warburg

There is also a pre-conception service whereby the fertility doctors remove eggs and sperm from the couple and fertilize them in the fertility lab. They then perform DNA tests to determine whether any of the embryos are a disease phenotype. Once the lab personnel identify the healthy embryo, they discard the ones with the diseases.

Regarding post conception diagnosis, the test itself is not a problem as long as it can lead to the discovery of treatable diseases prior to birth leading to a healthy child with the appropriate supportive care. In some cases, when health providers want to screen for a fatal disease like Tay-Sach’s rabbinical authorities have ruled that even the test is forbidden because termination is not permissible for those who want to follow Jewish Law. In contrast, for a fetus with anencephaly (no brain), the rabbis have ruled that the fetus has no soul and therefore, termination is deemed appropriate (Brown, J. 1990).

On the other hand, this new technology of DNA screening of multiple zygotes after in vitro fertilization (IVF) to find a healthy embryo while flushing the diseased phenotypes leaves medical ethicists with a dilemma. For the happy couple who give birth to a healthy baby, of course, there is only joy. No one gives any thought to the embryos that went down the drain. There were products of human conception that ended in oblivion. Although one can argue that many fetuses with lethal abnormalities never make it to full term, the would-be parents suffer through a sense of loss and work through a natural grief process. Such emotional involvement never happens with IVF lab selection of the best child while the unlucky candidates are being flushed down the toilet. The parents are uninvolved because the process of conception is removed from the realm of human experience.

How it impacts society as a whole

Society as a whole is at risk of losing the necessary emotional component of conceiving a child. The natural process is one of committing an act of love in sharing intimacy with a partner. When a child arises from this sharing, the couple fulfills, in part their reason for existence. Children who are unfortunately born with an untreatable fatal or debilitating disease evoke extraordinary acts of selfless love on the part of parents and other caregivers. Humanity as a whole benefits from such acts of love. Of course we all think it would be better never to have to suffer such catastrophic events, but this is what exists in nature and every difficulty has its positive aspects.

However, once we routinely separate the conception from the love-making by making multiple embryos in a lab and shopping for the more “perfect” children, we disconnect procreation from humanity. Human conception then becomes an emotionless clinical procedure with people in search of the “perfect child” with the sharing of intimacy having nothing to do with starting a family. Consequently, there is a risk of evolving into a society of the genetically engineered versus the naturally conceived, and those among the latter group who are born with certain physical defects are certain to suffer relegation to second class citizenry being denied their inalienable rights to life, liberty and the pursuit of happiness

The personal potential impact of gene mapping

Personally, gene mapping has had no impact thus far. There were no known hereditary diseases in my family. However, my youngest daughter became seriously ill from her mother’s breast milk and we had to switch her to soy milk and keep her on a dairy-free diet, which she continues to this day at age 20. Now I am learning that this could well be a metabolic disorder known as galactosemia and that Isadora was probably born with a single missense mutation in exxon 6 resulting in diminished GAL-1-P uridyl transferase activity (Jorde, Carey & Bamshad 2010). Consequently, Isadora’s future family will benefit from gene mapping because her doctors will be able to establish her DNA profile. Her future spouse can also undergo testing and they can receive pre-conception genetic counseling. Thus the next generation will have a greater advantage in preventing some of the potential genetic disorders. If Isadora is likely to give birth to a child with the same phenotype, then she will be better prepared to avoid having a child with high risk illness by starting her infant on soy protein and avoiding milk altogether. If we had that advantage in 1990, we could have avoided Isadora’s potentially lethal reaction to galactose intolerance.

References:

Brown, J 1990. Prenatal screening in Jewish law. Journal of Medical ethics, (16) 75-80.

Jorde, L.B., Carey, J.C., Bamshad, M.J 2010. Medical Genetics, Fourth Edition. Mosby, Elsevier. P. 127.

University of Miami, Miller School of Medicine 2012. The Victor Centers for Jewish Genetic Diseases, Retrieved on 5/23/12 from http://victorcenter.med.miami.edu/.

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