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PubMed2002

Predictive genetic testing for conditions that present in childhood.

There is a general consensus in the medical and medical ethics communities against predictive genetic testing of children for late onset conditions, but minimal consideration is given to predictive testing of asymptomatic children for disorders that present later in childhood when presymptomatic treatment cannot influence the course of the disease. In this paper, I examine the question of whether it is ethical to perform predictive testing and screening of newborns and young children for conditions that present later in childhood. I consider the risks and benefits of (1) predictive testing of children from high-risk families; (2) predictive population screening for conditions that are untreatable; and (3) predictive population screening for conditions in which the efficacy of presymptomatic treatment is equivocal. I conclude in favor of parental discretion for predictive genetic testing, but against state-sponsored predictive screening for conditions that do not fulfill public health screening criteria.

Age of Onset↗
PubMed1996

Attitudes to predictive DNA testing in familial adenomatous polyposis.

Attitudes to predictive DNA testing for familial adenomatous polyposis were documented in 62 affected adults. Patient views on prenatal testing and termination of pregnancy for this disorder were sought, as were opinions on the most suitable age to offer predictive testing for at risk children and the most appropriate age to begin screening. While 15 (24%) of those questioned stated that they would proceed to termination of pregnancy if a prenatal test indicated that the unborn baby was affected, in clinical practice no one has yet requested this option. Six (10%) people who had refrained from having children for fear of passing on the polyposis gene felt that the arrival of prenatal testing would enable them to consider planning a family. The majority of patients (93%) said they would like their children tested by DNA analysis at birth or in infancy, but felt that 10 to 12 years was the most appropriate time to discuss the diagnosis with the child.

Abortion, Spontaneous↗
PubMed2004

Psychosocial impact of breast/ovarian (BRCA1/2) cancer-predictive genetic testing in a UK multi-centre clinical cohort.

This multi-centre UK study assesses the impact of predictive testing for breast and ovarian cancer predisposition genes (BRCA1/2) in the clinical context. In the year following predictive testing, 261 adults (59 male) from nine UK genetics centres participated; 91 gene mutation carriers and 170 noncarriers. Self-report questionnaires were completed at baseline (pre-genetic testing) and 1, 4 and 12 months following the genetic test result. Men were assessed for general mental health (by general health questionnaire (GHQ)) and women for general mental health, cancer-related worry, intrusive and avoidant thoughts, perception of risk and risk management behaviour. Main comparisons were between female carriers and noncarriers on all measures and men and women for general mental health. Female noncarriers benefited psychologically, with significant reductions in cancer-related worry following testing (P<0.001). However, younger female carriers (<50 years) showed a rise in cancer-related worry 1 month post-testing (P<0.05). This returned to pre-testing baseline levels 12 months later, but worry remained significantly higher than noncarriers throughout (P<0.01). There were no significant differences in GHQ scores between males and females (both carriers and noncarriers) at any time point. Female carriers engaged in significantly more risk management strategies than noncarriers in the year following testing (e.g. mammograms; 92% carriers vs 30% noncarriers). In the 12 months post-testing, 28% carriers had bilateral risk-reducing mastectomy and 31% oophorectomy. Oophorectomy was confined to older (mean 41 yrs) women who already had children. However, worry about cancer was not assuaged by surgery following genetic testing, and this requires further investigation. In all, 20% of female carriers reported insurance problems. The data show persistent worry in younger female gene carriers and confirm changes in risk management consistent with carrier status. Men were not adversely affected by genetic testing in terms of their general mental health.

Adult↗
PubMed2004

The association between race and attitudes about predictive genetic testing.

OBJECTIVES: To investigate differences in attitudes about predictive genetic testing for cancer risk between African-American and Caucasian residents of the city of Philadelphia. METHODS: Cross-sectional survey of awareness of and attitudes about predictive genetic testing, using an instrument developed through focus groups with the general public, literature review, and expert opinion. SETTING: Municipal County Courthouse of Philadelphia. RESPONDENTS: Male and female adults waiting to be assigned to jury duty. RESULTS: Of the 430 respondents, 43% (170) were African-American and 45% (181) Caucasian. Awareness of predictive genetic testing was higher among Caucasians (72%) than African-Americans (49%). After adjustment for age, gender, and educational attainment, African-Americans were more likely to report that the government would use genetic tests to label groups as inferior, and less likely to endorse the potential health benefits of testing, including "help my doctor manage my health care," "help me change my lifestyle," and "help scientists find cures for diseases." These associations remained if the sample was restricted to participants who had heard of genetic testing before the survey. CONCLUSIONS: In the city of Philadelphia, awareness of and attitudes about predictive genetic testing for cancer risk differ by race, with lower awareness, less belief in the potential benefits of testing, and more concern about racial discrimination from genetic testing among African-Americans than Caucasians. These differences may result in disparities in the uptake of predictive genetic testing in the future.

Adult↗
PubMed1998

[Predictive medicine: an ethical challenge to medical practice].

Predictive genetic tests (predictive medicine) require procedures, norms and attitudes completely different from those used in the everyday clinical practice, as a consequence of some peculiarities of the genome as compared to the universe of biological structures or processes. Some aspects are considered in particular: the relationship between the physician and the potential user of a test and the inadequacy of a directive model based on the criterion of the "benefit for the health"; the requirements and limits of an autonomous choice in predictive testing; the complexities of the balance between social responsibility and individual autonomy for genetic disorders. On the basis of these considerations it is proposed that for predictive testing no one could know about a subject more than he/she wants to know and to tell, limiting the exceptions to well defined cases.

Confidentiality↗
PubMed2000

Redefinition: coping with normal results from predictive gene testing for neurodegenerative disorders.

The purpose of this qualitative study was to describe the psychosocial impact and coping processes of normal (negative) results from predictive testing for an inherited neurodegenerative disease. Ten adults with normal results of predictive testing for the Huntington disease (HD) or the Pallido-Ponto-Nigral Degeneration (PPND) gene mutation participated in semi-structured interviews 1 month after receiving results, and seven of these participants were interviewed 6 months later. The major theme of Redefinition was derived using Knafl and Webster's analysis method (1988). People who received normal gene results experienced loss of former beliefs about themselves and developed new self definitions, relationships with family, and roles in society. This coping process evolved from a personal focus at 1 month to a broader future perspective at 6 months after testing. Identifying components of the redefinition process may be an important consideration in planning interventions to promote coping with normal gene results in persons within at-risk families.

Adaptation, Psychological↗
PubMed1985

Prediction of functional capacity and use of exercise testing for predicting risk after acute myocardial infarction.

This study evaluated whether an ischemic exercise test response or functional capacity could be predicted from data available during hospitalization in patients discharged after acute myocardial infarction (AMI). The value of exercise test variables for predicting death and new AMI within 1 year was also examined. Among 1,469 patients, 466 (32%) underwent treadmill exercise testing around the time of discharge. An ischemic exercise test response (ST-segment depression or angina) could not be predicted. Good functional capacity (more than 4 METs) could be predicted from age and ST-segment changes at rest. Among the 60% of the patients who were predicted to have functional capacity of more than 4 METs, only 15% had poor functional capacity at the time of testing. Multivariate analysis for predicting death and new infarction selected only functional capacity (continuous variable in METs), which classified 72% of the patients into a low-risk group with less than a 2% rate of death and new AMI in the first year. The high-risk group (29% of the patients) had an 18% rate of death or new AMI. It is concluded that functional capacity is the most important exercise test variable and that patients likely to have good functional capacity can be identified on the basis of age and ST-segment changes at rest. Further, the level of functional capacity on exercise testing can identify groups of patients with very low and relatively high risk of death or new AMI within 1 year.

Adrenergic beta-Antagonists↗
PubMed2001

Predictive genetic testing -- new possibilities in determination of risk of complex diseases.

Predictive genetic testing offers the possibility to statistically determine the risk of inheriting a complex phenotype by establishing an individual s genotype for metabolic polymorphisms. Here we discuss the conditions under which a predictive test may be offered to a patient and the problems connected with it. Examples of predictive genetic testing for multifactorial diseases and drug responses are given. We describe in detail the association of the C677T polymorphism of methylentetrahydrofolate reductase gene with hyperhomocystinemia and folate levels, as an independent risk factor for cardiovascular disease, and the association of a polymorphism of the promoter of the 5-lipoxygenase gene and the response to leukotriene inhibitors in asthma. Prospective development of genomic medicine and its use in the study of complex traits will hopefully bring significant benefit to the population and enhance the prevention and therapy of common diseases.

Cardiovascular Diseases↗
PubMed2000

Anticipating response to predictive genetic testing for Alzheimer's disease: a survey of first-degree relatives.

Two hundred and three children and siblings of patients with Alzheimer's disease (AD) (age range: 30-92 years, 75% female) were surveyed regarding potential predictive testing options for the disorder. A mailed questionnaire posed various hypothetical scenarios and assessed the following variables: interest in testing, perceptions of its pros and cons, and psychological and demographic predictors of test intentions. In 5 of 6 scenarios, a majority of participants expressed intentions to pursue testing, with perceived pros outweighing cons. The most important reasons for seeking testing were informing later-life decisions and planning future AD care. Predictors of test intentions were male gender, information-seeking style, higher perceived AD threat, and appraisal of test pros versus cons. Situational factors such as available treatment options and certainty of test information also affected responses. Results suggest a positive view of predictive testing, with its limitations and risks underrated. Study findings may inform AD genetic counseling and health education efforts.

Adult↗
PubMedDate not supplied

An international survey of predictive genetic testing in children for adult onset conditions.

PURPOSE: Predictive genetic testing is offered to asymptomatic adults even when there is no effective prophylaxis or treatment. Testing of young people in similar circumstances is controversial, and guidelines recommend against it. We sought to document descriptive examples of the occurrence of genetic testing in young people for nonmedical reasons, in the countries where guidelines exist. METHODS: Clinical geneticists in the USA, Canada, UK, Australia, and New Zealand were surveyed about the occurrence and outcomes of testing in asymptomatic young people for conditions where no prophylaxis or treatment exists and onset is usually in adulthood. RESULTS: Of 301 responses, details were provided of 49 cases where such testing had occurred. The most common condition tested for was Huntington Disease. In 22 cases (45%), the young person tested was immature, defined as under the age of 14 years. Results were disclosed to only two immature minors and in three cases parents experienced clinically significant anxiety related to how they would pass on information to their gene positive child. In 27 cases (55%), the young person tested was mature. Results were disclosed to 26 mature minors and it was reported that two individuals experienced an adverse event. Consistent follow-up did not take place and findings represent the minimum frequency of adverse events. The majority of respondents agree with existing guidelines but many believe each case must be considered individually. CONCLUSION: Clinicians agree with existing guidelines regarding predictive testing in young people, but choose to provide tests for nonmedical reasons in specific cases.

Adolescent↗
PubMed2005

Predictive genetic testing for hereditary breast and ovarian cancer: psychological distress and illness representations 1 year following disclosure.

This prospective study evaluates emotional functioning and illness representations in 68 unaffected women (34 carriers/34 noncarriers) 1 year after predictive testing for BRCA1/2 mutations when offered within a multidisciplinary approach. Carriers had higher subjective risk perception of breast cancer than noncarriers. Carriers who did not have prophylactic oophorectomy had the highest risk perception of ovarian cancer. No differences were found between carriers and noncarriers regarding perceived seriousness and perceived control of breast and ovarian cancer. Mean levels of distress were within normal ranges. Only few women showed an overall pattern of clinically elevated distress. Cancer-specific distress and state-anxiety significantly decreased in noncarriers from pre- to posttest while general distress remained about the same. There were no significant changes in distress in the group of carriers except for ovarian cancer distress which significantly decreased from pre- to posttest. Our study did not reveal adverse effects of predictive testing when offered in the context of a multidisciplinary approach.

Adaptation, Psychological↗
PubMed2005

Facilitating family communication about predictive genetic testing: probands' perceptions.

The responsibility of informing relatives that predictive genetic testing is available often falls to the proband. Support is required during this process, however the perceived utility of genetic counseling and other strategies to facilitate communication have not been explored. We investigated the experiences of 12 individuals with hereditary nonpolyposis colorectal cancer (HNPCC) in a semistructured telephone interview. Respondents informed their immediate family about the availability of genetic testing, however many more-distant relatives were not directly informed. Respondents were mostly satisfied with the way they told family members about testing and had mixed views about the usefulness of genetic counseling. Gender differences were observed, with most men expressing a need for guidance or support in communicating to relatives. Letters and booklets were thought to enhance the quality of information but the provision of further aids is unlikely to increase the number of relatives made aware of predictive testing by the proband.

Adult↗
PubMed2006

[Attitudes towards predictive genetic testing for Alzheimer's disease].

Most neuropsychiatric disorders have a complex aetiology. Discovery of the underlying genetics will provide insights into the disorders and allow the subsequent development of therapeutic interventions based upon an understanding of causality. The first vulnerability genes in Alzheimer's disease (AD) have been identified. The contribution of each vulnerability gene to the disorder is limited and does not enable prediction of course and onset in individual cases, only modification of the a priori risk. However, people may wish to be informed about this modification. Professionals have not favoured this form of predictive testing due to an awareness of its limitations and its potential for harm. However, little is known about public attitudes and understanding of such genetic testing in neuropsychiatric disorders. The aim of our study was to assess the attitudes of the general population and to explore the influence on these attitudes of knowledge about the illness and the understanding of risk information. In our study, a representative sample of the German general population (n=2001), relatives of patients with Alzheimer's disease (n=101) and physicians (n=43) were interviewed about their attitudes towards genetic tests for Alzheimer's disease and their perception and interpretation of risk information. To assess the influence of genetic counselling on these factors, 234 people were questioned before, and four weeks after, they were provided with detailed relevant information. Our results indicate that a substantial proportion of the German population (57%) is in favour of psychiatric genetic testing for AD in general. Even when the explanatory power of a genetic test is limited, a substantial proportion of the population (47%) expressed an interest in genetic testing. Counselling slightly decreased the interest in having a genetic test for oneself (from 47% to 38%). Physicians were more hesitant than both relatives and the general population concerning predictive genetic testing. Only a minority (11%) favoured prenatal genetic testing. Our results also show that both knowledge about AD and the capacity to interpret risk estimates are limited. While physicians' estimation of their personal risk for developing AD approximated to the actual average risk for the population, people in the general population and the relatives of AD patients tended to overestimate their personal risk. However, most of the general population still perceived this risk as average or low. While most physicians could correctly interpret information regarding the probability of risk, only one third of AD patients' relatives or members of the general population could. As the decision of an individual to undergo predictive testing relies mainly on his understanding of risk, the ability to correctly interpret risk information will be of crucial importance in the future. From a medical perspective, the prevailing approach of professional associations to genetic testing appears reasonable and therefore should not be changed at present.

Adult↗
PubMed2005

Screening and preventive behaviors one year after predictive genetic testing for hereditary nonpolyposis colorectal carcinoma.

BACKGROUND: Prevention benefits from predictive genetic testing for cancer will only be fully realized if appropriate screening is adopted after testing. The current study assessed screening and preventive behaviors during 12 months after predictive genetic testing for hereditary nonpolyposis colorectal carcinoma (HNPCC) in an Australian clinical cohort. METHODS: Participants received predictive genetic testing for HNPCC at one of five Australian familial cancer clinics. Data on self-reported screening behaviors (colonoscopy, and endometrial sampling and transvaginal ultrasound for women) and prophylactic surgery (colectomy, and hysterectomy and bilateral oophorectomy for women) were collected using postal questionnaires before (baseline) and 12 months after receipt of genetic test results. Age, gender, perceived risk of cancer, and cancer-specific distress were assessed as predictors of colonoscopic screening. RESULTS: In the current study, 114 participants returned baseline questionnaires (32 carriers and 82 noncarriers of an HNPCC mutation). Ninety-eight participants also returned a 12-month follow-up questionnaire. Of those > or = 25 years, 73% reported having had a colonoscopy before genetic testing. At follow-up, 71% (15 of 25) of carriers and 12% (8 of 65) of noncarriers reported having a colonoscopy in the 12 months after receipt of test results. The reduction in colonoscopy among noncarriers was statistically significant (P < 0.001). High perceived risk was associated with colonoscopy at baseline. At follow-up, mutation status was the only variable significantly associated with colonoscopy. Among female mutation carriers, 47% reported having transvaginal ultrasonography and 53% endometrial sampling during follow-up. There was low uptake of prophylactic surgery for colorectal, endometrial, or ovarian carcinomas. CONCLUSIONS: The majority of individuals reported appropriate screening behaviors after predictive genetic testing for HNPCC. The small group of noncarriers who had screening after genetic testing might benefit from additional counseling.

Adult↗
PubMed1996

How good is the estimated cover test at predicting the von Graefe phoria measurement?

Results obtained on the estimated cover test and the von Graefe phoria measurement were compared in order to determine how well the former test predicted the result of the latter. Subjects for the study were 25 clinic patients and 28 optometry students. Examiners were two fourth-year optometry interns. For testing at 6 m, correlations between the estimated cover test and the von Graefe measurement were relatively high, although for some subjects the cover test underestimated the von Graefe measurement by as much as 4 delta of exophoria and 6 delta of esophoria. For testing at 40 cm, correlation coefficients were somewhat lower, and the cover test underestimated the von Graefe measurement by as much as 11 delta of exophoria and 13 delta of esophoria. It was concluded that although the estimated cover test is valuable as a screening test, it should be followed by prism neutralization or by von Graefe phoria measurement.

Adult↗
PubMed1994

Legal issues in predictive genetic testing programs.

This article reviews aspects of predictive genetic testing to which the general law of doctor-patient relations applies and identifies peculiarities of such testing that raise more specialized legal issues. Where testing programs are experimental in character, investigators bear legal responsibilities to inform their subjects adequately and separate duties to submit their proposals to ethical review. Access to routine care and counseling and to specialized testing programs are addressed in the contexts of antidiscrimination laws and patient protection. The law on patients' adequately informed and free decision-making regarding testing is reviewed, with particular attention to reproductive counseling and planning for future inability to make or express decisions about care. Modern perceptions of the legal nature of medical confidentiality are applied to results of predictive genetic testing, and distinctions are illustrated between justified and excusable breaches of confidentiality, particularly with regard to familial disorders. Attention is given to patients' directions that their medical information be made available to third parties and to themselves. Finally, legal issues are considered regarding legal control of tissue samples that patients give for genetic diagnosis.

Aged↗
PubMed2004

A simple ultrasound test to predict the superstimulatory response in cattle.

We tested the hypotheses that: (1) the superstimulatory response is related to the intrinsic number of follicles recruited into a follicular wave; and (2) the number of follicles recruited into a wave is correlated to the number of follicles recruited into the successive wave. A positive correlation will form the basis of a test for predicting the superstimulatory response. Cows (n = 141) were treated with estradiol and progesterone to synchronize follicular wave emergence (first synchronization) and ranked according to the number of follicles > or =2mm at wave emergence to select the upper and lower 10% of the herd. Follicular wave emergence was synchronized again in the high-end (n = 16) and low-end (n = 20) groups (second synchronization), and cows were treated with FSH twice daily for 3 days. High-end cows had a greater number of follicles (P < 0.001) than low-end cows at the time of wave emergence after both the first and second synchronizations in the 2-3 and 4-6mm categories. The numbers of 2-3 and 4-6mm follicles at wave emergence after the first and second synchronizations were positively correlated (P < 0.001; r = 0.77 and 0.71, respectively). Endogenous FSH peak at the time of wave emergence was higher in the low-end group than in the high-end group. Superstimulatory treatment resulted in more than double the number of follicles (P < 0.003) in the 5-7mm and > or =8mm categories in the high-end group than in the low-end group (16.8 +/- 2.2 versus 8.1 +/- 0.9 and 22.7 +/- 4.1 versus 9.7 +/- 1.6, respectively). The number of follicles > or =5 and > or =8mm at the end of superstimulation was positively correlated (P < 0.001) with the total number of follicles > or =2mm at the time of wave emergence after both the first (r = 0.64 and 0.54, respectively) and second ( r = 0.65 and 0.5, respectively) synchronizations. Based on the results of this study, the superstimulatory response can be predicted by the number of follicles > or =2mm at wave emergence. For practical purposes, practitioners can expect the number of follicles > or =5mm after ovarian superstimulation to be approximately 71% of the number of follicles > or =2mm at the time of wave emergence. Results validated the proposed simple ultrasound-based test for predicting the superstimulatory response of individual cows.

Animals↗
PubMed2004

An exploration of the legal and socio-ethical implications of predictive genetic testing of children.

This article explores the current position in relation to predictive genetic testing of children, highlighting some of the legal and socio-ethical issues and complexities that such testing presents. It evaluates the existing regulatory framework for predictive genetic testing of children in Australia, including the possible role of the Family Court in protecting children from inappropriate testing, and suggests that introducing a more interventionist approach would create its own difficulties. The article also considers a particular issue arising in the context of predictive genetic testing of children which the ALRC/AHEC inquiry canvassed concerning disclosure obligations to insurers. The article argues that creating an exception to established principles of disclosure would mitigate the impact of predictive genetic testing of children and would be consistent with international instruments which seek to protect against unfair genetic discrimination.

Australia↗