The choice

Article Abstract:

Although genetic testing can now determine chromosomal abnormalities in a fetus, the plight of the expectant mother who is informed of an abnormality has been largely ignored. In this article, a female pediatrician who was placed in that unfortunate position has written of her experiences as a patient and as a mother. The news was conveyed to her abruptly, on a Friday afternoon, with no attempt to provide any emotional support or counseling. She and her husband were required to make the choice of whether or not to terminate the pregnancy without any guidance. Factors such as the impact of raising a handicapped child on their existing family, on the mother's career, and on their finances had to be considered without outside counseling. Ultimately they decided to terminate the pregnancy. However, the termination process had a profound psychological impact. There were no support groups, and few people realized that the termination of a pregnancy under these circumstances has, in many respects, the same emotional impact as the loss of a child. The author concludes that her experience illustrates the difficulties that arise when advances in technology outrun society's ability to understand the impact of technology on the people it is intended to benefit.

Abortion, column

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Presymptomatic diagnosis of delayed-onset disease with linked DNA markers: the experience in Huntington's disease

Article Abstract:

Molecular genetic diagnostic tests, which detect genetic abnormalities before symptoms appear, will almost certainly be a part of medicine in the 21st century. The Johns Hopkins University School of Medicine launched a voluntary program to genetically test people with a 50 percent risk of Huntington's disease, a genetically transmitted degenerative brain disease causing mental deterioration. Fifty- five persons received DNA analyses. Twelve people tested positive and 30 tested negative, while the tests of 13 proved inconclusive. Patients responded to the test results with reactions ranging from joy and relief to sadness and demoralization. No severe depressive reactions were noted in the short term from the knowledge of the test results. The data suggest that people who receive genetic test results are able to cope well, at least over the short term, when education, pretest counseling, psychological support and regular follow-up accompany the test.

Analysis, Diagnosis, DNA, Huntington's chorea, Huntington's disease

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BRCA1 testing in families with hereditary breast-ovarian cancer: a prospective study of patient decision making and outcomes

Article Abstract:

People with many first-degree relatives with breast or ovarian cancer who understand the benefits of genetic screening seem more likely to undergo testing for the BRCA1 gene. This gene has been implicated in familial breast and ovarian cancer. Of 279 men and women whose family members had been tested for the gene, only 43% wanted to know the results. Those with private insurance, knowledge of the test and more first-degree relatives with the disease were more likely to want the test results. Those who tested negative were less depressed than those who tested positive.

Genetic aspects, Breast cancer

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