Case Study 33 : GENETIC COUNSELING
Challenges
A 42-year-old G4P3, four-month pregnant mother visited the clinic. Given her age, the doctor felt concerned about the possibility of the fetus’ having Down Syndrome, a risk currently estimated at one per 100 births for women of 40 years and above. She was advised to undergo genetic screening using amniocentesis, which can reveal chromosomal disorders, including Trisomy 21 and other defects of Chromosome 21, the causes of Down Syndrome.
Question
What ethical questions merit consideration in screening for genetic defects?
Solutions
Genetic screening presents a method of determining the fetus’ genetic composition, usually through amniocentesis or chorionic villi sampling. It has four basic aims:
1. To advance scientific research, to know how to deal with genetic problems.
2. To attempt an early therapy before the malfunctioning of a defective gene has caused extensive damage.
3. To help prepare parents deal with children with genetic abnormalities (e.g., in the case of Down Syndrome, there could be heart abnormalities, thyroid problems and acute leukemia; also to be considered are the need for and availability of educational and vocational opportunities).
4. To help parents decide whether to conceive a child or not in the future.
These purposes are ethically acceptable and even commendable. Furthermore, most screening techniques cause practically no harm, thus no ethical objections apply to the procedures themselves. However, some ethical issues warrant consideration when dealing with genetic screening in general. One question is that of free and informed consent. As in any other medical procedure, screening should always remain voluntary, after supplying the patient with all the pertinent information (procedure, goals, burden, and side effects). Likewise, any information obtained should be used properly, since the possibility exists that the parents could misunderstand the seriousness and possible consequences of their or their child’s condition. Confidentiality should be maintained, avoiding any danger of stigmatization (i.e., labeling those with genetic abnormalities as humanly inferior).
