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Benjamin Wilfond, MD
University of Wisconsin Medical School Madison

JAMA. 1990;264(22):2867-2868.

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In Reply.—

Heterozygote detection for research purposes is ethically more problematic than voluntary carrier testing for clinical purposes. Since nontherapeutic research will not directly benefit the research subjects, a high standard for protection from harm and for informed consent will be required from institutional review boards. Subjects would need to be informed about the potential for confusion, stigmatization, and discrimination, and steps would need to be taken to reduce the likelihood of these problems occurring.

Several hypotheses are offered to explain the high frequency of the CF gene in white populations. Dr Johnson's hypothesis is novel but unsupported by physiological data. The sweat electrolytes in heterozygotes have been studied by di Sant'Agnese and Powell.¹ They did find that mean sweat chloride levels in CF heterozygotes were 32 mmol/L compared with 17 mmol/L in controls, a statistically significant difference, with 17% of the obligate heterozygotes studied having chloride levels greater . . . [Full Text PDF of this Article]

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