“ As he chats with the young mother, the doctor flicks a cotton swab into the mo

Question

“As he chats with the young mother, the doctor flicks a cotton swab into the mouth of her infant son, collecting a small sample of mucus from inside his cheek. In the back room of his office, he inserts the sample into a machine, which extracts DNA from the mucus cells and compares it with the genetic material on a dime-size chip. Minutes later, a computer printer begins to spit out a list of the infant’s genes. Fortunately, all but a few genes are labeled ‘normal.’ It is those few that the doctor discusses as he explains the results to the mother. ‘Your son’s genetic inheritance is generally good,’ he says, ‘but he is somewhat predisposed to skin lesions. So starting right away, he should be protected against excessive exposure to the sun.’ And the doctor warns, ‘He may well be susceptible to cardiovascular disease later in life. To lessen this risk, after about age 2, he should begin a lifelong low-fat, high-fiber diet’” (Jaroff, 1996).

Scientific advances in the field of molecular biology have provided great insight into mechanisms of gene-environment interactions. The trade-off is how we use this information in a variety of study designs to investigate disease etiology and causal mechanisms. Citing at least two references not found in the course materials, discuss the ethical implications of collecting and analyzing genetic data in epidemiologic research.

You must make your initial posts no later than Thursday at 11:55 p.m. EST. You must respond to the posts of at least two classmates no later than 11:55 p.m. EST on Saturday. Responses of “Nice job” or “I agree” followed by a regurgitation of the original post are not acceptable and will not count toward the minimum two responses.

Reference:

Jaroff, L. (1996). Keys to the kingdom. Time 148(14), 24-29.

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Explanation / Answer

Ethical implications of genetic testing in epidemiological research are as follows:

1. Consent: All genetic testing should be done after explaining the patient or guardian about the procedure & obtaining informed consent.

2. Genetic counselling: Depending on the outcomes of genetic testing, counselling to the patient is very important for important decisions. Example - Couple can avoid pregnancy in known genetic defects in case of consanguinous marriage or mother can terminate pregnancy if diagnosed to have genetic abnormality of growing fetus in early stage of pregnancy.

3. Confidentiality: It is confusing whether patient results of genetic testing should be kept confidential or inform spouse in the interest of genetically abnormal baby being developed or inform the relatives about genetic abnormality if benefits outweigh the disability.

4. Social stigma: Patients might experience depression, reduced life expectancy or develop stress related diseases after revealing the genetic abnormality.

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