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PubMed1993

Prenatal genetic testing and geneticization: mother matters for all.

Prenatal genetic testing represents the most widespread human application of reproductive technology, and its use is necessarily gendered. Moreover, its application both reflects and generates the process of 'geneticization' that increasingly orients contemporary western-world stories of health and disease. Taking a woman-centered approach, this paper examines some of the stories being told about testing; questions their themes of 'reassurance' and 'choice', their construction of 'risk', and their assumptions about disability; and explores the 'life-style' testing creates for (pregnant) women. Testing itself, and its power to control how we live and the children we bear, raises complex and troubling matters that require continued and fresh examination.

Abortion, Induced↗
PubMed1998

Comfort care interventions in a preimplantation genetic testing program.

The fields of human genetics and assisted reproductive technology (ART) have experienced many scientific advances over the past 50 years. The integration of these two clinical specialties has resulted in the ability to perform preimplantation genetic testing (PGT) on an embryo created through ART. This is a technology that can be used by individuals at risk for the transmission of a genetic disorder to prevent occurrence of the disorder in their child. Both the process of PGT and the life experiences that lead to the decision to use PGT stimulate many levels and types of discomfort. Holistic comfort care interventions performed by the nurse are uniquely designed to eliminate or reduce discomfort and to enable those at risk to utilize the available technologies to create healthy families.

Adult↗
PubMed1999

Relationships among breast cancer concern, risk perceptions, and interest in genetic testing for breast cancer susceptibility among African-American women with and without a family history of breast cancer.

There has been very little research exploring the relationships among perceptions of, and concern about, getting breast cancer and interest in genetic testing for breast cancer among African-American women with and without a family history of breast cancer. This study explored these issues among 130 and 136 African-American women with and without a family history of breast cancer, respectively. Women with a family history reported having greater perceived breast cancer risks and concerns than women without a family history of breast cancer. Knowledge of breast cancer risk factors was very poor and correlated weakly with perceptions of risk and concern. In attributional analyses, acknowledging one's family history status was the strongest predictor of perceived risk only among women with a family history. Women with a family history of breast cancer expressed greater interest in genetic testing for breast cancer susceptibility than women without a family history, although interest in testing was high overall. Increasing perceptions of breast cancer risks and concerns were related to a greater interest in genetic testing, and this relationship was not moderated by family history status. Attributions of risk and knowledge of breast cancer risk factors generally were not related to interest in testing. Overall, these results suggest that: (a) African-American women with a family history are more concerned about and do recognize their greater risk of breast cancer; (b) knowledge of risk factors and attributions of risk are not directly related to interest in genetic testing; and (c) concerns, rather than beliefs about one's risk, are more powerfully related to interest in genetic testing, independent of family history status.

Adult↗
PubMedDate not supplied

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.

Child↗
PubMed1995

Genetic test for pyruvate kinase deficiency of Basenjis.

Pyruvate kinase (PK) deficiency is an autosomal, recessive, inherited disease of Basenjis that causes chronic, regenerative, hemolytic anemia. Diagnostic methods currently used to identify carrier animals rely on measurement of erythrocyte PK activity and frequently give equivocal results. A genetic test incorporating polymerase chain reaction amplification of genomic DNA and restriction fragment length polymorphism has been developed to determine the PK genotype of Basenjis. To determine whether results of this genetic test compared with results of standard tests for PK deficiency, erythrocyte PK activity, hematocrit, and reticulocyte counts were determined in, and the genetic test was performed on, 24 dogs. The genetic test accurately identified the 11 dogs whose PK genotype was known prior to this study, and results were consistent with results of measuring erythrocyte PK activity in the remaining 13 dogs. The genetic test may be of value in determining PK genotype of Basenjis.

Anemia, Hemolytic↗
PubMed2000

Psychological impact of genetic testing for Huntington's disease: an update of the literature.

Genetic testing has been available for Huntington's disease for longer than any other adult onset genetic disorder. The discovery of the genetic mutation causing Huntington's disease made possible the use of predictive testing to identify currently unaffected carriers. Concerns have been raised that predictive testing may lead to an increase in deaths by suicide among identified carriers, and these concerns set in motion research to assess the psychological impact of predictive testing for Huntington's disease. This review article provides an overview of the literature and draws implications for clinical practice. About 10%-20% of people at risk request testing when approached by registries or testing centres. Most of the evidence suggests that non-carriers and carriers differ significantly in terms of short term, but not long term, general psychological distress. Adjustment to results was found to depend more on psychological adjustment before testing than the testing result itself. Although risk factors for psychological sequelae have been identified, few adverse events have been described and no obvious contraindications for testing people at risk have been identified. The psychological impact of testing may depend on whether testing was based on linkage analysis or mutation detection. Cohorts enrolled in mutation detection programmes have higher levels of depression before and after testing, compared with people who sought genetic testing when linkage analysis was available. There is evidence that people who choose to be tested are psychologically selected for a favourable response to testing. The impact of testing on people in settings where less intensive counselling protocols and eligibility criteria are used is unknown, and genetic testing is therefore best offered as part of comprehensive specialist counselling.

Humans↗
PubMed2000

Molecular genetic testing in pediatric practice: A subject review. Committee on Genetics.

Although many types of diagnostic and carrier testing for genetic disorders have been available for decades, the use of molecular methods is a relatively recent phenomenon. Such testing has expanded the range of disorders that can be diagnosed and has enhanced the ability of clinicians to provide accurate prognostic information and institute appropriate health supervision measures. However, the proper application of these tests may be difficult because of their scientific complexity and the potential for negative, sometimes unexpected, consequences for many patients. The purposes of this subject review are to provide background information on molecular genetic tests, to describe specific testing modalities, and to discuss some of the benefits and risks specific to the pediatric population. It is likely that pediatricians will use these testing methods increasingly for their patients and will need to evaluate critically their diagnostic and prognostic implications.

Adolescent↗
PubMed2000

Rare syndromes and genetic testing for colorectal cancer.

The genes responsible for each of the inherited syndromes of intestinal polyposis and colorectal cancer are now known. This knowledge has led to genetic testing for syndrome diagnosis and for determining which persons in an affected family actually have the condition. Genetic testing has also allowed a more precise clinical characterization of each of the syndromes and their subtypes. Optimal application of genetic testing, proper cancer prevention, and management of nonmalignant features of each of the syndromes are the next goals. This report summarizes each of the syndromes, their genetics, and management and provides an approach for genetic testing.

Adult↗
PubMedDate not supplied

Caught in the middle again: professional ethical considerations in genetic testing for health risks.

Genotyping tests for molecular mutations associated with clinical syndromes increasingly allow clinicians to identify health risks before clinical problems occur, sometimes making prevention possible. The clinical use of these tests, however, can create moral problems for families and serious health policy challenges for communities. Those issues, in turn, complicate the professional ethics of genetic testing and counseling. Investigators working with families in gene-identification studies have already encountered these complications in the research setting and their experiences may help in the development of a clinical ethic for genetic testing. In addition to questions about the predictive significance of particular genotypes, three other sets of ethical considerations are becoming important to professional decision-making about genetic testing: the psycho-social impact of testing, the patient's privileges with respect to testing, and the potential for effective prevention following testing. Underlying all these considerations are basic lessons from the research setting on how clinicians should interpret genetic testing for patients, given the heavily deterministic meanings that they have been taught thus far.

Ethics, Medical↗
PubMedDate not supplied

Women's knowledge and attitudes about genetic testing for breast cancer susceptibility.

OBJECTIVE: To assess female primary care patients' knowledge about breast cancer genetics and attitudes toward genetic testing. DESIGN: Self-administered survey. PARTICIPANTS: A convenience sample of 91 female patients awaiting appointments at a large primary care clinic of Group Health Cooperative in Seattle, Washington. RESULTS: Forty-seven percent of women had read or heard almost nothing about genetic susceptibility testing, and most did not know the answers to questions that assessed knowledge about breast cancer genetics. Eighty-one percent "somewhat" or "strongly" agreed that testing should be offered to everyone; women who had heard or read about genetic testing for breast cancer were more likely to agree that genetic testing should be offered only to people who have a reason to think that they have an altered gene. When asked whether they planned to have genetic testing for breast cancer, many women said "probably or definitely yes" (71% would do so if insurance covered the cost; 44% would do so even if they had to pay out-of-pocket). CONCLUSIONS: Although most women knew little about genetic testing, many expressed interest in being tested and believed that it should be offered to everyone. Primary care providers may be asked to educate women about cancer genetics and appropriate use of susceptibility testing.

Adolescent↗
PubMed1995

Attitudes toward genetic testing for colon cancer risk.

This study examined public interest regarding genetic testing for colon cancer susceptibility. Survey data were collected from 383 adults in Utah. Respondents were very (47.3%) or somewhat (36.6%) interested in taking this genetic test. Nearly 95% reported that they would share their results with others. Individuals with higher income and with a perceived risk of getting colon cancer were the most interested in testing. Individuals without health insurance and widowed individuals were the least likely to share their test results. If respondents were told that they carried a gene for colon cancer, most would be concerned with how to reduce their risk of getting the disease.

Adult↗
PubMed1999

Cost comparison of predictive genetic testing versus conventional clinical screening for familial adenomatous polyposis.

BACKGROUND: Mutations of the APC gene cause familial adenomatous polyposis (FAP), a hereditary colorectal cancer predisposition syndrome. AIMS: To conduct a cost comparison analysis of predictive genetic testing versus conventional clinical screening for individuals at risk of inheriting FAP, using the perspective of a third party payer. METHODS: All direct health care costs for both screening strategies were measured according to time and motion, and the expected costs evaluated using a decision analysis model. RESULTS: The baseline analysis predicted that screening a prototype FAP family would cost $4975/ pound3109 by molecular testing and $8031/ pound5019 by clinical screening strategy, when family members were monitored with the same frequency of clinical surveillance (every two to three years). Sensitivity analyses revealed that the genetic testing approach is cost saving for key variables including the kindred size, the age of screening onset, and the cost of mutation identification in a proband. However, if the APC mutation carriers were monitored at an increased (annual) frequency, the cost of the genetic screening strategy increased to $7483/ pound4677 and was especially sensitive to variability in age of onset of screening, family size, and cost of genetic testing of at risk relatives. CONCLUSIONS: In FAP kindreds, a predictive genetic testing strategy costs less than conventional clinical screening, provided that the frequency of surveillance is identical using either strategy. An additional significant benefit is the elimination of unnecessary colonic examinations for those family members found to be non-carriers.

Adenomatous Polyposis Coli↗
PubMed2000

Families at risk for colorectal cancer: risk assessment and genetic testing.

As befits a common cancer, a family history of colorectal cancer (CRC) is reported by about 10% of individuals. The discovery of the genetic basis of hereditary nonpolyposis CRC and familial adenomatous polyposis has opened up the possibility for determining genetic predisposition to CRC in asymptomatic family members of affected cases. This article reviews the information needed for accurate risk assessment for those with a family history of CRC. Screening recommendations and the current status of genetic testing, including review of available tests such as microsatellite instability, immunohistochemistry for hMSH2 and hMLH1, testing for I1307K, and gene testing for germline mutations in hMSH2 and hMLH1 are discussed. At the current time, reliable, informative genetic testing, capable of application to broad segments of the population, is an unrealized goal. But as the methodology for testing improves and as better appreciation of the significance and meaning of a positive or negative test result ensues conditions for increased use of genetic testing could emerge.

Adaptor Proteins, Signal Transducing↗
PubMed1998

Genetic test for myophosphorylase deficiency in Charolais cattle.

OBJECTIVE: To develop a simple test for the determination of genetic susceptibility to myophosphorylase deficiency in Charolais cattle. ANIMALS: 48 adult Charolais cattle and 233 calves from one herd and 3 Charolais cattle from 2 other herds. Sixty Piedmontese and 34 Saler cattle provided negative-control samples. PROCEDURE: Cattle were from a Charolais herd in which myophosphorylase deficiency was identified and 2 other herds in which cattle had signs compatible with the disease. Genomic DNA was isolated from heparinized blood samples. A segment of the myophosphorylase gene containing the mutation site was amplified by polymerase chain reaction assays, and the genotype (normal vs affected allele) was determined by using restriction enzyme and agarose gel electrophoretic analysis. RESULTS: The 3 myophosphorylase genotypes (homozygous normal, homozygous affected, and heterozygous) could be readily identified. Segregation of the affected allele could be determined in an extended pedigree, and all clinically affected cattle were homozygous for this allele. Determination of the distribution of normal and affected alleles in a large population did not indicate a strong selective advantage for heterozygous carriers in this herd. Heterozygotes were also identified in Charolais cattle from the 2 other herds. CONCLUSIONS: Breeders of Charolais cattle can use this genetic test to perform marker-assisted selection and remove cattle with the mutant myophosphorylase allele from the breeding population. Alternatively, they could more accurately determine selective advantages and disadvantages for cattle with the affected allele. CLINICAL RELEVANCE: Development of this test enables rapid genetic screening of Charolais and related breeds of cattle for detection of the mutation responsible for myophosphorylase deficiency.

Animals↗
PubMed1997

Patients' attitudes about autonomy and confidentiality in genetic testing for breast-ovarian cancer susceptibility.

The identification of BRCA1 and BRCA2, two breast-ovarian cancer susceptibility genes, has brought many ethical and social issues to the forefront. This paper presents the results of a survey assessing the attitudes of 238 unaffected first-degree relatives of women with breast or ovarian cancer regarding the ethical issues of autonomy and confidentiality as they relate to BRCA1/2 testing. Baseline knowledge about BRCA1/2 and ethnic and psychosocial characteristics of our study population were examined to determine their association with women's attitudes. The majority of women (86-87%) felt that health care providers should not disclose the results of genetic tests for breast-ovarian cancer susceptibility to insurance companies or employers without written consent; however, only 56-57% felt that written consent should be required for a spouse or immediate family to receive this information. Ninety-eight percent of the women surveyed agreed that genetic testing for breast-ovarian cancer risk should be voluntary. Likewise, most women (95%) agreed that a person should be able to have genetic testing against a doctor's recommendation and 88% of the women surveyed agreed that parents should be able to consent to genetic susceptibility testing on behalf of their minor children. African American women were less concerned than Caucasian women about the protection of confidentiality in families, they were more likely to agree that an individual should still have access to testing when their physicians recommended against it, and they were more supportive of parents' rights to consent to genetic predisposition testing on behalf of their minor children. Women with coping styles characterized by higher optimism were more likely to favor access to genetic testing when a physician recommended against it, and to support parents' rights to consent to testing of their minor children. Therefore, the setting and manner in which genetic counseling and testing are delivered must be appropriately tailored to reflect these attitudinal differences and preferences.

Adolescent↗
PubMed1997

Actuarial considerations on genetic testing.

In the UK the majority of life insurers employ relatively liberal underwriting standards so that people can easily gain access to life assurance cover. Up to 95% of applicants are accepted at standard terms. If genetic testing becomes widespread then the buying habits of the public may change. Proportionately more people with a predisposition to major types of disease may take life assurance cover while people with no predisposition may take proportionately less. A model is used to show the possible effect. However, the time-scales are long and the mortality of assured people is steadily improving. The change in buying habits may result in the rate of improvement slowing down. In the whole population, the improvement in mortality is likely to continue and could improve faster if widespread genetic testing results in earlier diagnosis and treatment. Life insurers would not call for genetic tests and need not see the results of previous tests except for very large sums assured. In the UK, life insurers are unlikely to change their underwriting standards, and are extremely unlikely to bring in basic premium rating systems that give discounts on the premium or penalty points according to peoples genetic profile. The implications of widespread genetic testing on medical insurance and some health insurance covers may be more extreme.

Actuarial Analysis↗
PubMed2000

Psychological consequences of predictive genetic testing: a systematic review.

The aim of this systematic literature review is to describe the psychological consequences of predictive genetic testing. Five databases were searched for studies using standardised outcome measures and statistical comparison of groups. Studies were selected and coded by two independent researchers. From 899 abstracts, 15 papers, describing 11 data sets, met the selection criteria for the review. The studies were of predictive genetic testing for Huntington's disease, hereditary breast and ovarian cancer, familial adenomatous polyposis and spinocerebellar ataxia. One involved children; the rest were of adults. None of the 15 papers reported increased distress (general and situational distress, anxiety and depression) in carriers or non-carriers at any point during the 12 months after testing. Both carriers and non-carriers showed decreased distress after testing; this was greater and more rapid amongst non-carriers. Test result (ie being a carrier or non-carrier) was rarely predictive of distress more than one month after testing (predictive in two of 14 analyses). Pre-test emotional state was predictive of subsequent distress in 14 of 27 analyses. There is a lack of informative studies in this field. The studies reviewed suggest that those undergoing predictive genetic testing do not experience adverse psychological consequences. However, the studies are of self-selected populations who have agreed to participate in psychological studies and have been followed up for no more than three years. Most research has been of testing for Huntington's Disease and included follow-up of no more than one year. The results suggest that testing protocols should include a pre-test assessment of emotional state so that post-test counselling can be targeted at those more distressed before testing. None of the studies experimentally manipulated the amount or type of counselling provided. The relationship between counselling and emotional outcome is therefore unclear and awaits empirical study.

Adaptation, Psychological↗