The Pharmaceutical Journal
Vol 270 No 7233 p131-132
25 January 2003

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American Society of Health-system Pharmacists summary

Pharmacists face ethical dilemmas in genetics research

The potential harms in genetic research are frequently related to sharing of information and yet this issue is often poorly handled or absent altogether from trial consent forms, said Dr Benjamin Wilfond, head, bioethics research section, National Human Genome Institute, Bethesda, Maryland.

In a session focussing on genetics and the ethical issues faced by pharmacists, he described some of the dilemmas that commonly arise in this field.

Genetic research is a heterogeneous category of research that includes family studies of rare diseases, genetic epidemiological studies, pharmaceutical trials, gene expression studies and research into the psychological and clinical impact of genetic information. Dr Wilfond used two cases to illustrate the challenges facing health care workers in genetic research.

In the first example, a researcher working on risk factors for diabetes recruits an African-American student to the study. The laboratory investigation for HbA1c also reveals that the student is a sickle cell anaemia (SCA) carrier. The researcher is then faced with the question of whether or not he should pass on this piece of incidentally acquired information. A straw poll of the audience showed a unanimous feeling that the student should be told.

Careful consideration required

The issue required careful consideration, said Dr Wilfond. Some people would wish to know, because there was a 25 per cent risk of having a child with SCA if two carriers were to marry. On the other hand, there was the possibility of stigmatisation. This used to be a big problem in the 1970s and had led to difficulties with life insurance and employment. There was also the more subtle issue of the loss of choice about a discretionary piece of information, he noted.

The researcher would also need to consider the effect of the information on his relationship with the student, said Dr Wilfond. He may feel that he had an obligation to disclose the information, to forestall future feelings of distrust and anger (if the student were to discover later that the researcher had known about his SCA status). However, the researcher may be obliged not to disclose the information under the terms of a study protocol.

The second case illustrated some of the problems of sharing information within a family. In a study concerned with identification of carriers of the BrCa1 gene (which increases the susceptibility to breast cancer in females), several generations of the same family are enrolled. The researchers promise each individual that the results of the study are confidential. Before testing, the *proband, a male, says that he will not tell his father if the result is positive because he does not want the older man to feel guilty (about passing on a defective gene). The test result is positive but he tells his father that it is negative. The proband also tells his sister, in the presence of the researchers, that the result is negative. Separately, he tells the researchers that he will "take care" of his daughter, but they fear that he will not tell her of the result. The dilemma for the researchers is how to balance their obligations to protect the father with their duty to inform the daughter so that she can avoid harm.

In such situations, four criteria should be considered. They were the seriousness of potential harm, the likelihood of harm, whether or not it was avoidable and whether there were any reasonable alternatives.

The case scenarios illustrated typical problems, he said. The information was probabilistic and complex, the risks were primarily psychosocial, there were familial implications and the information had an impact on reproductive decision-making.