A Spanish-language prenatal family health evaluation questionnaire: Construction and pilot implementation

The Family Planning Council of America has constructed and implemented a genetic history questionnaire, the Family Health Evaluation, to elicit risk factors, to increase clients' knowledge about reproductive choices, and to improve access to genetic services. The objective of the present study was to develop and implement a Spanish-language version of the Family Health Evaluation for data collection and risk assessment. The content of the Family Health Evaluation was modified to more clearly reflect the risks, exposures, and medical needs of an Hispanic, largely Mexican-American, population. In the present study, the questionnaire was administered to women presenting for prenatal care. The data collected in this pilot study indicate that the questionnaire is effective in identifying individuals and families who would benefit from receiving additional information about a medical condition in their families, from genetic counseling or from a referral for high-resolution ultrasound or other diagnostic procedures.     

Ethical questions in the age of the new eugenics

As a result of the publicly funded Human Genome Project (HGP), and an increasing number of private enterprises, a new form of eugenic theory and practice has emerged, differing from previous manifestations. Genetic testing has become a consumer service that may now be purchased at greatly reduced cost. While the old eugenics was pseudoscientific, the new eugenics is firmly based on DNA research. While the old eugenics focused on societal measures against the individual, the new eugenics emphasizes the family as a control agent. Eugenics is now voluntary, with the promise of abortion for those afraid of producing genetically damaged children. The ethical concepts of beneficence, avoidance of maleficence, autonomy, and equity are discussed in terms of aspects of the HGP. One major issue is the need for an ethical system available to health consumers that will empower them and assist in their biogenic decisions. “The concentration on the genes implicated in cancer is only a special case of a general genomania (emphasis added) that surfaces in ... the weekly announcements in The New York Times of the location of yet another gene for another disease. The revealing rhetoric of this publicity is always the same; only the blanks need to be filled in: ‘It was announced today by scientists at [Harvard, Vanderbilt, Stanford] Medical School that a gene responsible for [some, many, a common form of] [schizophrenia, Alzheimer’s, arteriosclerosis, prostate cancer] has been located and its DNA sequence determined. This exciting research, say scientists, is the first step in what may eventually turn out to be a possible cure for this disease.’” Lewontin ¹ Portions of this paper were presented at the Eighth National Conference on Applied Ethics, Long Beach, CA, February 27, 28 and March 1, 1997.     

Attitudes Toward Cystic Fibrosis Carrier and Prenatal Testing and Utilization of Carrier Testing Among Relatives of Individuals with Cystic Fibrosis

A questionnaire and an offer of free carrier testing was mailed to 173 relatives of individuals with CF. The questionnaire addressed their knowledge of clinical and genetic aspects of CF, as well as their attitudes toward carrier testing, prenatal diagnosis, and pregnancy termination for CF. Eighty-one individuals returned the questionnaire (47%) and 50 elected carrier testing (29%). Most respondents underestimated their carrier risk (60%), but overestimated their risk to have a child with CF (63%). Most (93%) indicated they would utilize carrier testing, and 70% would use prenatal testing; however, only 7% would consider terminating a pregnancy for CF. The intention to use prenatal testing was correlated with the perceived health of the proband and whether the respondent was planning to have (more) children. The acceptability of abortion was correlated with the respondent's perceived impact or burden of CF.     

Genetic Testing Considerations in Breast Cancer Patients

Genetic testing is now feasible for a growing number of cancers. Although the implications for unaffected relatives have been widely described, the impact of the tests on affected individuals are often not recognized. We present and discuss four cases that highlight some of the issues—for example, feelings of guilt and anxiety, intrafamilial conflict, and support needs—that may arise in testing affected individuals. We offer some suggestions to aid in the approach to such testing.     

Client Perceptions of the Impact of Genetic Counseling: An Exploratory Study

Twenty-eight former genetic counseling clients seen at a major Midwestern university were recruited to be interviewed about their genetic counseling experiences, including most and least helpful aspects, what they learned, how this information impacted their decision-making, and their perceptions of their genetic counselors' behaviors. Responses were inductively analyzed, and several themes were identified, including: Clients sought genetic counseling to obtain genetic-medical information; a majority accurately recalled this information; genetic counseling influenced decisions for about 50% of the sample; decision-making was affected by several extra-session factors; a majority experienced distress during the session; most perceived genetic counselor responses as nondirective and liked this approach; counselor behaviors regarded as directive involved discussion of pregnancy termination; participants disagreed about the need for and provision of genetic counselor support; most regarded the session as helpful and stated that they would seek genetic counseling again. Suggestions for addressing these issues in practice and research are given.     

Complex Genetic Disorders: Evaluating When Genetic Research Findings Are Applicable for Genetic Counseling Practice

Traditional genetic counseling processes and principles will be extended to a new realm—complex disorders. Although it may seem like a daunting task, understanding the methodologies used to study complex genetic disorders will enable genetic counselors to critically analyze research studies involving complex disorders. In this article, we explain newly evolving methodologies for genetic research, including case-control studies and transmission disequilibrium testing (TDT). Additionally, a framework is provided for evaluating original research findings and replication studies.     

Letter to a genetic counselor

The author describes her personal experience terminating a pregnancy after receiving an abnormal amniocentesis result: While still waiting for the results, she and her husband attempted to deny the importance of the pregnancy, an approach which they subsequently regretted. When they received the abnormal result, they found themselves able to make necessary decisions quickly, despite being in shock. It then took some time before they realized what a major loss they had actually suffered. The painful aftermath included accepting emotional responsibility for their decision to abort, as well as explaining that difficult decision to their older children. Thoughts of a possible subsequent pregnancy could not be faced at once. Over time, the author found the support of friends and colleagues, and even of a support group, to be invaluable. All in all, the entire experience was more painful than she would have predicted, and she hopes that this account will prove helpful both to genetic counselors and to other patients who receive abnormal results from prenatal diagnosis. A list of suggested readings is appended.Rose Green is a pseudonym.     

An explication of the National Society of Genetic Counselors (NSGC) code of ethics

This article reviews the work carried out by the NSGC ad hoc Committee on Ethical Codes and Principles between 1986 and 1991 and serves as a guide for interpreting the NSGC Code of Ethics. The NSGC Code of Ethics is written from the ethic of care perspective. It is based on the responsibilities that arise from the four primary relationships genetic counselors experience in their work: genetic counselors and themselves, their clients, their colleagues, and society. The values selected for each relationship and the resultant guidelines are explained. The Code of Ethics became effective January 1, 1992.