Psychological impact of news of genetic risk for Huntington disease.

A one-year longitudinal study was conducted investigating the psychological effects of the news of genetic testing for the Huntington disease (HD) gene. Participants were assessed at baseline (before obtaining news of test results) and at three, six, and 12 months after test results on stress-specific symptom measures. Among carriers of the HD gene, a considerable number (55%) showed evidence of neurological impairment at baseline, indicative of HD. Also noteworthy, these individuals had significantly higher psychological symptom scores at baseline than carriers without neurological impairment or noncarriers. Despite this, these individuals were no more aware of their carrier status at baseline than carriers without HD symptoms or noncarriers. Furthermore, the psychological symptom levels of HD carriers with neurological impairment remained elevated across the follow-up assessments. Results for noncarriers and carriers without HD neurological symptoms were consistent with the findings of previous studies indicating that news of genetic testing for the HD gene had limited detrimental impact. The clinical implications of the results are discussed.

[Screening of first-degree relatives of patients with abdominal aortic aneurysm]. / Screening af førstegradsslaegtninge til patienter med abdominalt aortaaneurisme.

Whereas the lethality of elective resection of abdominal aortic aneurysms (AAA) is 3-6%, that for ruptured cases is 75-95%. Unfortunately AAA seldom cause symptoms before rupture. As ultrasonographic screening is quick, inexpensive, and reliable, this has been suggested. First-degree relatives are reported to have a 2-4 times increased risk of AAA. Substantial benefits would be gained by population screening of 65-year-old men, particularly in the case of male first-degree relatives. Female first-degree relatives seem to have a risk similar to that of the male population, but the data are uncertain. Ruptured AAA rarely occur before the age of 60. Familial AAA do not expand faster nor are they associated with unusual locations, but they may occur earlier in life. Screening causes psychological side effects, and it could therefore be offered to male first-degree relatives from the age of 60, and be confined to ultrasonographic scanning of the infrarenal abdominal aorta at five-year intervals.

Neonatal outcome of preimplantation genetic diagnosis by polar body removal: the first 109 infants.

CONTEXT: Our center developed the technique of preimplantation genetic diagnosis (PGD) by sequential polar body removal (PBR) for the diagnosis of Mendelian disorders and aneuploidies. This study examines the obstetric and neonatal outcome of the first 109 live births after PGD by PBR. OBJECTIVE: To determine if there were any observable effects of PGD by PBR on perinatal morbidity and mortality, birth defects, and growth parameters. DESIGN: Data on perinatal outcome were gathered for the first 109 infants by parental reporting and confirmed by telephone interview and chart review when indicated. In infants >6 months old, a follow-up telephone interview was performed establishing the developmental milestones attained by the child. SETTING: A research center conducting an institutional review board-approved research protocol in PGD. PATIENTS: All patients who had PGD by PBR who had clinical pregnancies. MAIN OUTCOME MEASURES: Gestational age, mode of delivery, perinatal mortality, birth weight, birth length, the presence of birth defects, and developmental milestones. RESULTS: There was no significant decrease in birth length or weight, or the frequency of small for gestational age infants. No specific pattern of birth defects was observed. CONCLUSION: Thus far, there are no observable detrimental effects of PGD by PBR on children born after the procedure.

Antenatal diagnosis: what sometimes remains to be done after the birth of a normal child.

Although antenatal diagnosis has become a common procedure, it still raises much anxiety within the family. The level of anxiety may remain high even after the birth of a normal child, leading to relationship disorders with the infant. In this case study, antenatal diagnosis of a balanced translocation 3-14 resulted in anxiety disorders, attachment disorders and sleep disorders in the child. Parents with a persistent anxiety could be referred to a child psychiatrist or psychologist, as brief parent-infant therapy is rapidly effective in such cases, and represents an acceptable way for parents to seek psychological help.

Early pregnancy prenatal diagnostic testing: risks associated with chorionic villus sampling and early amniocentesis and screening options.

Routine amniocentesis is an established test for the prenatal diagnosis of chromosome abnormalities and many single-gene conditions. Chorionic villus sampling and early amniocentesis, which are available in some centers, enable families to receive prenatal test results earlier in the pregnancy. There are concerns regarding the safety of early pregnancy testing because of increased risks for pregnancy loss and possible risks for birth defects. The use of first trimester testing has changed because of these concerns, and alternative methods of screening pregnancies at risk for a chromosome abnormality are being investigated.

The case against preadoption genetic testing.

Adoption professionals and prospective adoptive families have become increasingly interested in obtaining genetic information on children prior to adoption. Predictive genetic testing of apparently healthy children has been urged as a way of generating information about children's future health and assisting families in deciding whether to adopt. Such genetic testing of children, however, raises a host of ethical issues with important implications for adoption policy and practice. The medical and psychosocial benefits and risks of predictive testing provide the context for analyzing the ethics of such testing. Ethical considerations strongly counsel against predictive genetic testing solely for purposes of evaluating a child for adoption.

Psychological risks of genetically testing children for a hereditary cancer syndrome.

Parents in families with a hereditary cancer syndrome are often familiar with periodical clinical testing of both themselves and their children. Genetic testing is an additional early diagnostic option that is becoming available for an increasing number of hereditary cancer syndromes. Participants in genetic counseling programs for cancer syndromes are often parents who apply for their children. If a child is identified as a carrier of a specific disease-causing gene mutation, sometimes its parents must decide on when it will be treated can treatment be postponed until expression of the disease or should the child receive presymptomatic surgery? We discuss some of the possible risks of genetically testing children: distress as a result of ambivalent feelings towards testing, preoccupation with disease-related signs, changes in family interactions, the burdening prospect of a future disease and medicalization of the carrier-child.

Stress and genetic testing for disease risk.

Healthy people who believe they are at risk for a life-threatening disease appear to carry a substantial stress burden because of threat of disease and uncertainty of risk. Testing for risk factors may be helpful by reducing this uncertainty, but diseases with multiple causes, like breast cancer, appear to be determined by genetic factors and by age, reproductive behavior, exposure to environmental toxins, or unknown antecedents. For diseases caused by inherited genetic defects, testing brings different benefits and stressors. A model is proposed that predicts long-term distress when risk analysis suggests a very high risk, when uncertainty is not reduced, when results of testing are at odds with preventive actions already taken, and when people who receive a positive, risk-increasing result lack strong social support, coping skills, other psychosocial resources, or all of these.

Reactions to predictive testing in Huntington disease: case reports of coping with a new genetic status.

A predictive testing program for Huntington disease has been available in Stockholm, Sweden since October 1990. Psychosocial assessments were performed throughout the testing program to evaluate the impact of the risk situation itself and the effect of predictive testing, and to identify those individuals who were most vulnerable to severe stress and anxiety reactions. All subjects underwent neurological, neuropsychological, and psychiatric examinations. Individuals undergoing predictive testing were assessed twice by a genetic counsellor before receiving their results, and at 10 days (gene carriers only) and then 2, 6, 12, and 24 months after receiving the results. The process of coping with the test results and the psychological adjustment to knowledge about new genetic status have been shown to vary considerably. In this report, we describe the results obtained from two gene carriers and two noncarriers. The four persons chosen represent different ways of coping with the outcome of the test and of integrating knowledge about their genetic status into everyday life. These cases illustrate common themes and recurrent problems often surfacing during the counselling and testing process. The longitudinal evaluations provide information about the impact, adaptation, and long-term effects of living with a new genetic status.

The at-risk health status and technology: a diagnostic invitation and the 'gift' of knowing.

In the past two decades, the medical model has extended its jurisdiction to cover a new medical entity-the at-risk health status-which is frequently accompanied by what I call a diagnostic invitation and the 'gift' of knowing. In cases, however, where the diagnosis may only reaffirm the risk but can provide no cure, the value of the 'gift' of knowing is questioned. The at-risk health status also can: (1) develop a symbiotic relationship with diagnostic technology, (2) become an organizing principle in individual and social behavior and (3) provide new tasks for clinical medicine. The perceived cost effectiveness of preventive measures, combined with the desire to use high-technology medicine, to achieve newly expanded definitions of health make it likely that the concept of the at-risk health status will be integrated into whatever health care plan is finally enacted for the United States. In light of the possible negative, as well as positive, effects of at-risk health labelling, American society needs to establish standards for the diagnostic invitation as a gift of knowing especially when the line between prevention and overuse is not always clear.

Genetic testing for cancer predisposition: behavioral science issues.

The discovery of major cancer susceptibility genes is likely to create strong pressures for clinical testing from biotechnology companies, insurance carriers, the medical community, and the public. However, before genetic testing for cancer predisposition is made widely available, we must identify the optimum strategies to enhance informed decision making, minimize adverse psychologic consequences, and promote adherence to recommended surveillance. This report provides an overview of behavioral research in these areas and, on the basis of this literature, presents suggestions for developing effective and ethical genetic testing protocols.

Psychological counseling strategies for women at risk of breast cancer.

Women with family histories of breast cancer have a much higher risk of developing the disease than women in the general population. In the absence of primary prevention for breast cancer, secondary prevention in the form of early detection is our best bet against premature morbidity and mortality. This article describes the most salient psychological issues for high-risk women as well as ways for improving screening behaviors. Based on our work and other studies in the literature, we found that there were several key variables related to psychological distress and surveillance behaviors. Barriers to screening were a major reason why women did not engage in any breast cancer prevention behaviors. Cognitive deficits, in terms of lack of knowledge, and breast cancer misbeliefs contributed to poor adherence to screening. Most important, anxiety or emotional distress not only interfered with adherence to screening but also affected quality of life negatively in that many women needed psychological counseling. In developing psychological counseling strategies for high-risk women, we focused on the treatment outcomes of reducing emotional distress, decreasing perceived vulnerability, and improving adherence to screening behaviors. We conducted a preliminary study by piloting a group psychoeducational intervention for 6 consecutive weeks. This intervention was found to significantly reduce perception of risk (P < .02) and to increase adherence to screening behaviors (P < .01). If proven effective in a randomized controlled trial, this intervention can be proposed to other cancer centers and prevention programs for implementation and enhancement of the behaviors among high-risk women that will assure early detection and decrease breast cancer mortality.

Noninvasive screening for prenatal genetic diagnosis.

During the last two decades a number of methods of prenatal diagnosis have become available and have been used either in laboratory research or in routine genetic counselling. Despite the effectiveness of invasive sampling procedures in diagnosing genetic disorders, their use involves some risk. The advantage of noninvasive methods is that they provide an opportunity to make a genetic diagnosis without risk, and therefore are applicable for use in mass screening programmes. This article reviews three different approaches to noninvasive prenatal genetic diagnosis and offers conclusions and recommendations for their use. Maternal serum screening is a well-understood technique that should be universally offered to pregnant women, regardless of their risk status. Invasive tests can be used, as indicated, once serum testing results have been obtained. Although ultrasonography cannot be recommended for routine use, it can provide a useful adjunct to serum screening and deserves further investigation. Elaboration of fetal cells from maternal blood is a promising technique but can only be considered investigational on the basis of current research, and should not serve as the sole basis of clinical decision-making.

Grief and mid-trimester fetal loss.

Fetal loss through miscarriage or termination of pregnancy for genetic reasons often provokes the grief of bereavement. This is not fully understood, and the extent of the distress is often underestimated by professionals and family alike. We have examined elements of the normal bereavement process and have found that they may occur in specific and accentuated forms in mid-trimester fetal loss. We discuss our findings in the light of the attachment theory--a psychodynamic model for understanding grief reactions.