The Lesh-Nyhan syndrome is a genetic disorder leading to mental retardation, cerebral palsy, self-mutilation, uric acid build up and early death. Only females can be heterozygous carriers. Assume that it is now the twenty-first century and recently you have learned a safe procedure to alter genes on the egg chromosomes (germline therapy) and on a fetus (somatic gene therapy). A woman comes to you having inadequate health insurance and no financial resources, but she has been diagnosed as being a carrier for the Lesh-Nyhan syndrome so there is a 50-50 chance of her baby having the disease. You are also aware that a fellow doctor has recently been successfully sued for professional negligence for failing to properly diagnose a genetic disorder in a fetus. What would you do for your patient?
(a) Problem definition
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1. The law requires that you only have to provide a medical consultation.
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2. Your HMO policy is to give minimal services, which in this case can include a genetic diagnosis of the fetus.
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3. The HMO has private charitable funding for somatic gene therapy since this procedure avoids abortion of the fetus.
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4. The HMO has government funds to provide germ therapy without cost since this will remove the defective gene for all time.
(b) 4 Solutions
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1. Give the medical consultation only.
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2. Diagnose the genes of her fetus. Refer her to an abortion clinic if the baby has the defective gene and recommend her fallopian tubes be tied.
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3. Offer the option of somatic gene therapy but make clear that the procedure is not risk free. The fetus may not develop normally once returned to the womb after therapy.
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4. Offer free abortion, provide either the option of tying her tubes or the option of having germline therapy now or at a later time.
(c) Consequences for solutions 1-4.
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1. Following the consultation, she carries the baby to term since she has no resources for an abortion and cannot face harassment from anti-abortion protesters. Her baby turns out to have the Lesh-Nyhan syndrome and dies four years later. The mother is left with large bills incurred from treatments and death of the baby.
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2. The baby was found to carry the defective gene. Your HMO director is prepared to unofficially waive expenses for an abortion because of the circumstances.
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3. Somatic therapy was not successful in the long run. The baby dies shortly after birth.
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The HMO does not cover all the expenses of her pregnancy.
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4. Germ therapy is postponed. Despite the inconveniences involved, she eventually gives birth to a healthy baby who grows up to become a genetics counselor.
(d) Plan and Measures of success.
Choose solution 4
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1.The patient has an appointment with a genetics counselor so that she can fully understand what is involved in germline therapy, including the abortion.
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2. Appointment made for abortion and tubes to be tied.
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3. Patient returns in two years to begin the medical process leading up to successful fertilization of a normal egg.
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Measures of success.
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- mother understands and supports the therapy.
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- baby is born healthy and lives with no negative consequences from the therapy.
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- society is saved from the ravages of this disorder
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- cost of the federal government funding is less than the cost of ignoring the problem.