LIFE LINES 32

HOW GENETIC SERVICES REDUCE FATALISM IN OUR LIVES


Before the 1940s there was little that could be done for families with children born with hereditary disorders. Nature usually solved the problem because the children with the defect, if severe, had difficulty reaching reproductive age and if they did, they might have found it difficult to find a partner with whom to have children. Parents who wanted to try again usually had no one around to give them advise on the inheritance of the trait. Things began to change after 1946 as knowledge of human heredity improved and a new field of genetic counseling began to appear in a few university hospitals. But even if the odds were made known, this did not help parents who wanted a normal child and not another child with a debilitating illness. When little of the science is known about a misfortune, people attribute their bad luck to being punished for some transgression in their past. Or they become fatalists and accept whatever happened as divine will or fate. Or they fall back on superstition and believe they were harmed by some unhappy event that occurred while pregnant or just before becoming pregnant. In the nineteenth century women giving birth to a child with port-wine birth mark on the face frequently blamed this on escaping from a fire at home or seeing a friend’s or relative’s home burn down.

But science trades these non-scientific explanations with a technical one that often makes them do a lot of soul-searching on how to apply that knowledge. This happened with the invention of prenatal diagnosis in the 1960s. Once scientists learned that we have 46 chromosomes (in 1955) and that Down syndrome had 47 (in 1959) it took less than a decade for physicians to insert a needle into the amniotic cavity of pregnant women at risk and for the cells in that fluid to be cultured, photographed and interpreted. If the cells showed trisomy-21 (the extra chromosome present in Down syndrome) women could elect to end the pregnancy and try again. About 95% of women who have faced those bad news outcomes of amniocentesis as the process is called, have chosen to abort the embryo. This is a potent moral wallop for all involved and despite all the controversy over it, most women are choosing a healthy child over one that involves a lot of medical problems. Not everyone feels ennobled by hard times whether it is poverty or raising a child with severe limitations. This is particularly true for conditions that involve a deteriorating early death of a sick child (like Tay Sachs syndrome). There are ways to shift the decision-making from a two or three month old fetus to a pre-implantation embryo in a dish, but this is much more costly to do and usually applies to those who already know they have a high probability of a repeat birth defect for their child. Genetic services provide information and options. Persons at risk have to exercise their autonomy and wrestle with their values to make a decision that best fits their situation. At least that is the prevailing model of autonomy for patients dealing with medical problems. Fifty years ago there was still a lingering desire for the state or the physician to tell the patient what to do or not do for what most of us consider a private decision. Science makes important discoveries that add to our knowledge of how different aspects of the universe, including life, works. The vast majority of humanity is not scientifically literate and until risk or tragedy strikes we think of these problems in theoretical terms (especially theological ones). When science is applied we are forced to confront our values.