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At least 343 records · Page 19Linked to original sources
PubMed2003

Adolescents and genetic testing: what do they think about it?

PURPOSE: To examine adolescents' attitudes toward screening for hereditary disorders. METHODS: A survey was distributed among 672 students in grades 10 to 12 attending a public suburban high school. The first part of the survey consisted of information about three diseases: familial breast cancer, Tay-Sachs disease, and hypercholesterolemia. The second part was a questionnaire developed by the authors, which explored students' attitudes toward testing for these diseases. Comparisons between and within groups were performed using X2 analysis. RESULTS: Out of the 672 surveys distributed, 361 were returned (54% response rate). Mean age of participants was 17 +/- 1 years. Most girls (67%) wanted to be tested for familial breast cancer. Girls were significantly more willing than boys to be tested for Tay-Sachs disease (23% vs. 13%, p <.002) and for hypercholesterolemia (54% vs. 39%, p <.001). Girls who had a relative with breast cancer were significantly more willing to be tested than other girls (p <.05). Individuals in the ethnic risk groups for Tay-Sachs disease were significantly more willing to be tested than those not in the ethnic risk groups (p <.001). However, only 33% of those in the ethnic risk groups for Tay-Sachs disease stated that they would either "definitely" or "probably" wish to be tested. Students who had a family history of high cholesterol were significantly more willing to be tested than those without a family history (70% vs. 34%, p <.0001). About 81% of the students with a family history of high cholesterol had never been referred for cholesterol testing. Only about 25% of participants stated that their attitude toward genetic testing was affected by concerns that genetic information might be misused by insurance companies/employers. CONCLUSIONS: The main motivator for genetic testing is having someone in the family affected by the disease in question. Adolescent girls are more willing to be tested for genetic diseases than are boys.

Adolescent↗
PubMed2004

Managing familial risk in genetic testing.

Increasing numbers of people are seeking genetic testing and uncovering information that directly concerns their biological relatives as well as themselves. This familial quality of genetic information raises ethical quandaries for physicians, particularly related to their duty of confidentiality. In this article, the American Medical Association's Council on Ethical and Judicial Affairs examines the informed consent process in the specific context of genetic testing, giving particular consideration to the handling of information that has consequences for biological relatives. Furthermore, it addresses the question of whether physicians' obligation to warn biological relatives ever should override the obligation to protect patient confidentiality.

Family Health↗
PubMed1999

The psychological impact of genetic testing for Alzheimer disease.

Information regarding one's genetic risk for a particular disease might effectively inform medical, financial, and reproductive decisions and perhaps promote established risk reduction behaviors. However, genetic testing may also lead to significant levels of anxiety, depression, or other forms of distress, especially when psychological coping strategies and social reserves are not adequate to manage positive or inconclusive results. This paper focuses on the psychological impact of predisposition genetic for Alzheimer disease (AD). We present stress and coping models that capture the essence of this impact and discuss the potential role of counseling and follow-up interventions. The discussion draws primarily from the experiences of professionals working with other diseases, and seeks to expand that experience into the AD arena. In addition, we emphasize two issues we believe need additional attention in the psychological literature regarding genetic testing and counseling: (i) the psychosocial vulnerability of individuals being tested and, (ii) the sociocultural context of the AD patient and their family members.

Alzheimer Disease↗
PubMed1998

Genetic testing for renal diseases: medical and ethical considerations.

Advances in understanding the genetic basis of renal disorders will soon allow for the clinical use of genetic diagnostic testing. In this article, we review renal diseases with a known genetic basis and the current methods available for genetic testing. We then examine the potential medical indications for genetic testing, with special attention to autosomal dominant polycystic kidney disease (ADPKD). Because clinicians will be faced with patients considering genetic testing, we review the ethical considerations regarding genetic testing for renal diseases, recent genetic privacy legislation, and the special role genetic testing may have in transplantation. We conclude with a review of the necessary elements of informed consent, which provides the ethical foundation for patients deciding about genetic testing with the assistance of their physicians.

Chromosome Mapping↗
PubMed2005

Patient satisfaction of BRCA1/2 genetic testing by women at high risk for breast cancer participating in a prevention trial.

With the increasing availability of cancer risk counseling and genetic testing, we need to determine the most effective way to provide complex and sensitive information to patients. This study was designed to determine the satisfaction of results delivery in women who participated in a breast cancer prevention trial and chose to undergo free and confidential BRCA1/2 genetic testing. Self-selected women at high-risk for breast cancer who were eligible to participate in a phase II chemoprevention trial, were offered free and confidential pre-test counseling and BRCA1/2 full sequencing. Subjects were not randomized but rather had the option of in person or telephone results disclosure. Those subjects with an identified germline alteration were required to follow-up with an in person consultation; this was optional for those with a negative result. A satisfaction survey was mailed to subjects after receiving their results. Ninety-seven percent (116/119) of the eligible subjects underwent genetic testing. Ninety-one percent (105/116) of those women tested responded to the follow-up survey. Twenty-four of the 26 women with an identified germline alteration responded. Nearly all of the responders were satisfied with the counseling and testing process. All of the respondents felt they made a wise decision in having the testing and would recommend that other women in a similar situation undergo genetic testing. We found that the majority of women at high risk for breast cancer participating in a prevention trial will choose to undergo anonymous and free BRCA1/2 genetic testing, be informed of the results, and are accepting of receiving results initially by phone.

Breast Neoplasms↗
PubMedDate not supplied

Genetic testing for prostate cancer. Willingness and predictors of interest.

PURPOSE: As researchers come closer to identifying the genes responsible for prostate cancer, the possibility of genetic testing for men at risk for prostate cancer becomes more likely. This study examined the following: 1) the degree to which men with (n = 43) or without (n = 83) a family history of prostate cancer would be interested in genetic testing; and 2) the degree to which interest in testing was associated with demographic, family history, and psychosocial factors. DESCRIPTION OF STUDY: Participants (N = 126) were accrued through patients who had been treated for prostate cancer at Fox Chase Cancer Center (n = 39) and through newspaper advertisements (n = 87). All participants completed a questionnaire sent by mail. RESULTS: Seventy-four percent of men were probably (50%) or definitely (24%) interested in testing. Participants with a family history of prostate cancer reported that they would be willing to pay substantially more for a genetic test compared with those without a family history. Elevated worry about prostate cancer and concerns about treatment-related side effects were associated with greater interest in genetic testing. CLINICAL IMPLICATIONS: Findings demonstrate a need for the development of genetic counseling protocols for at-risk men who are interested in genetic testing, once this test becomes available.

Adult↗
PubMed2001

Motivations and concerns of patients with access to genetic testing for hereditary pancreatitis.

OBJECTIVES: Direct DNA testing is now available for hereditary pancreatitis (HP). This study aimed to identify the factors that motivated individuals to participate in research and to determine how research participants used their genetic test results. METHODS: A survey was mailed to 247 participants (110 male, 137 female) who were > or =18 yr of age and living in the US. Data analysis was primarily a description of frequency distribution of the responses. RESULTS: Ninety-one of 247 participants (37%) completed the survey. Of the 55 female and 36 male respondents, 60% were 31-55 yr old, and a total of 54% tested positive for HP. The most common reason for participating in research was "to help a relative/family member" (61%), and genetic testing was pursued because of "the disturbance of seeing affected relatives" (48%) and "the desire to help future generations" (33%). Perceived risk of developing HP in the future was the least important motivating factor in seeking genetic testing. Sixty-two percent of respondents had received their genetic test results. All but one chose to share their results with at least one person: most often with family members (96%) and physicians (62%), and least often with insurance companies (4%). The most common influential factor in withholding information was "the fear of insurance discrimination" (23%). CONCLUSIONS: The major motivations to participate in the HP genetic research study were to obtain genetic testing and to help current family members and future generations. The major concern was insurance discrimination. Participants clearly appreciate the availability of genetic testing for HP. These results suggest that a mechanism to disclose results to research participants should be considered, and effective ways to protect at-risk individuals from insurance discrimination must remain a genetics health care priority.

Adult↗
PubMed1995

Potential impact of genetic testing on cancer prevention trials, using breast cancer as an example.

Using breast cancer as an example, we explored the potential impact that a highly predictive genetic test could have on the design and analysis of cancer prevention trials. We discuss three situations in this article: 1) trials that are in progress when the genetic test first becomes available as a research tool but is not available for general use, 2) trials in progress when the genetic test becomes generally available to the public, and 3) trials that begin after the test becomes generally available. We have concluded that the availability of a highly predictive genetic test will provide impediments to prevention trials in the form of increased noncompliance and also will provide opportunities in the form of new trials that include only persons at very high risk of developing cancer. Such trial designs could, under favorable circumstances, substantially reduce the size, duration, and cost of cancer prevention trials. The availability of a highly predictive genetic test will make the discovery of effective interventions even more urgent, and the randomized trial will still provide the most reliable method of evaluating prevention strategies.

Adult↗
PubMedDate not supplied

Providing information at the point of care: educational diagnostic reports from a genetic testing service provider.

Strategies to facilitate the provisioning of genetic health-care services by primary care physicians will improve access to these services for the average patient while making the most efficient use of limited human and financial resources within the health-care system. Genetic laboratories have become a major source of information and consultation for clinicians ordering genetic tests. This article describes the development and evaluation of a program to provide physician-directed information from a molecular testing facility to assist physicians in selecting and counseling patients and interpreting genetic test results. Semi-structured telephone interviews were used to gather physicians' opinions about the utility of the program and the way in which the information was used in their practice. Forty-three percent of those interviewed were unfamiliar with some of the information provided, with test methodology and sensitivity/specificity most often identified as novel information. Fifty-two percent of pediatric specialists were unfamiliar with some aspect of the information Sheet, despite being the highest consumers of testing services in this sample. Pediatricians and pediatric specialists also rated the initiative highest in terms of its usefulness in their practice, followed by genetic specialists. Overall, physicians confirmed the utility of the program as an educational tool for themselves, and for other non-patient educational activities in which they are involved.

Attitude of Health Personnel↗
PubMed2001

Ethical principles and pitfalls of genetic testing for dementia.

Progress in the genetics of dementing disorders and the availability of clinical tests for practicing physicians increase the need for a better understanding of multifaceted issues associated with genetic testing. The genetics of dementia is complex, and genetic testing is fraught with many ethical concerns. Genetic testing can be considered for patients with a family history suggestive of a single gene disorder as a cause of dementia. Testing of affected patients should be accompanied by competent genetic counseling that focuses on probabilistic implications for at-risk first-degree relatives. Predictive testing of at-risk asymptomatic patients should be modeled after presymptomatic testing for Huntington's disease. Testing using susceptibility genes has only a limited diagnostic value at present because potential improvement in diagnostic accuracy does not justify potentially negative consequences for first-degree relatives. Predictive testing of unaffected subjects using susceptibility genes is currently not recommended because individual risk cannot be quantified and there are no therapeutic interventions for dementia in presymptomatic patients.

Algorithms↗
PubMed1996

Ethical boundaries in genetic testing.

The scarcity of resources that can be allocated to genetic testing will ultimately limit the number of diseases subjected to molecular analysis. Medical student David Allan, who claimed first prize in CMAJ's 1995 Logie Medical Ethics Essay Contest, looks at the ethical principles that should guide decisions about genetic testing, and the importance of communicating these principles to patients and their families.

Age of Onset↗
PubMed1999

Attitudes and interest in genetic testing for breast and ovarian cancer susceptibility in diverse groups of women in western Washington.

OBJECTIVES: This paper examines the knowledge, opinions, and predictors of interest in genetic testing for breast cancer risk in a demographically diverse group of women in western Washington who participated in a randomized controlled trial (RCT) of breast cancer risk counseling methods. MATERIALS AND METHODS: Four groups of women were surveyed, all with some family history of breast cancer: (a) 307 white women; (b) 36 African-American women; (c) 87 lesbian/bisexual women; and (d) 113 Ashkenazi Jewish women. As part of the baseline questionnaire for the RCT, participants were asked about their familiarity with genetic testing for breast cancer risk, their interest in such testing and opinions of it, and actions they anticipated based on test results. RESULTS: Women in all four groups favored ready access to testing, believed the decision to be tested should be a personal choice, believed that genetic test results should stay confidential, and were not greatly concerned that this might not be possible. Women anticipated using such genetic test results to increase the frequency of various breast cancer screening methods (in all four groups, > 69% would increase mammogram frequency, > 85% would increase clinician exam, and > 92% would increase breast self exam). Women overwhelmingly rejected prophylactic surgery as a preventive measure (in all > 80% probably or definitely would not consider it). Significant predictors of interest in genetic testing for cancer risk included perceived risk, cancer worry, and beliefs about access to testing. CONCLUSIONS: These data will be of interest to health care providers, payers, public health professionals, legislators, and others as they consider issues associated with population testing for susceptibility to common diseases such as breast cancer.

Adult↗
PubMed2001

Genetic counseling and interpretation of genetic tests in familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer.

PURPOSE: Genetic counseling and interpreting genetic test results can be complex. Moreover, without knowing the limitations of the methods used and the lifetime probability of developing cancer in individuals who carry a gene that predisposes to cancer, misinterpretation may lead to false assurance. The purpose of this review is to discuss how genetic counseling will benefit patients and their family, the genetic tests available for hereditary colorectal cancer syndromes, and the interpretation of results. METHODS: Current literature was reviewed and our clinical and research experiences were incorporated. RESULTS: This review serves as a guide to enable various health care providers to better counsel patients in their quest for advice on prevention, early detection, and surveillance for colorectal cancer. Notable topics of discussion are who should undergo genetic counseling and consider testing and how the interpretation of test results can be misleading; for example, understanding the difference between a no mutation detected vs. a negative test result. CONCLUSIONS: Genetic counseling is of paramount importance for patients to fully understand the limitations of genetic testing and will aid in the management of patients who are susceptible to colorectal cancer.

Adenomatous Polyposis Coli↗
PubMed2001

Attitudes of young patients with Parkinson's disease towards possible presymptomatic and prenatal genetic testing.

OBJECTIVE: To evaluate the opinions and attitudes of young patients with Parkinson's disease (PD) towards possible presymptomatic and prenatal genetic testing for their illness. BACKGROUND: With progress in understanding of the genetic component in the etiology of PD, presymptomatic genetic testing may become available in subgroups of patients. METHODS: During a survey on sociodemographic and risk factors 111 PD patients (mean age 45 years: mean age at PD onset 36 years) were given a questionnaire with six items about possible presymptomatic and prenatal genetic testing. RESULTS: Fifty-seven patients (5196) had knowledge about presymptomatic and prenatal testing. Eighty patients (72%) would take a presymptomatic test, if they had an autosomal dominant form of PD and if the test were available. The most Important reasons given for taking the test were planning of partnership (40%) and family (48%). When being identified as a carrier of a presumed "Parkinson gene", 78 patients (70%) would decide not to have children. Sixty-three patients (57%) would choose to have prenatal testing. Attitudes were largely independent of sociodemographic and disease variables. CONCLUSIONS: When addressed as hypothetical persons at genetic risk, young patients with PD support possible presymptomatic genetic testing and, to a lesser extent, prenatal testing. Attitudes and reasons to participate in such hypothetical testing do not grossly differ from those of at-risk persons in established single-gene autosomal dominant disorders of late onset.

Adult↗
PubMedDate not supplied

Genetic testing for Alzheimer's disease and its impact on insurance purchasing behavior.

New genetic tests for adult-onset diseases raise concerns about possible adverse selection in insurance markets. To test for this behavior, we followed 148 cognitively normal people participating in a randomized clinical trial of genetic testing for Alzheimer's disease for one year after risk assessment and Apolipoprotein E (APOE) genotype disclosure. Although no significant differences were found in health, life, or disability insurance purchases, those who tested positive were 5.76 times more likely to have altered their long-term care insurance than those who did not receive APOE genotype disclosure. If genetic testing for Alzheimer's risk assessment becomes common, it could trigger adverse selection in long-term care insurance.

Alzheimer Disease↗
PubMedDate not supplied

Acceptance of genetic testing in a general population: age, education and gender differences.

The aim of the study was to analyze effects of age, education and gender on acceptance of genetic testing. Subjects, n = 1967 aged 15-69, were a stratified random sample of the Finnish population. One thousand, one hundred and sixty nine subjects, 530 men and 639 women, returned the questionnaire. The majority of the respondents approved of the availability of genetic testing. Young, aged 15-24, were more favourable towards testing and more willing to undergo suggested tests, but they were also more worried than others about the misuse of test results. Men aged 45-69 with only basic education were more in favour of mandatory genetic testing than other respondents. Respondents with university education were more critical towards genetic testing and expressed their worry about eugenics more often than other education groups. In conclusion, there are age, education and gender related differences in acceptance of genetic testing which need to be taken into account when considering screening programmes and informing the public.

Adolescent↗
PubMed2002

Women's interest in genetic testing for breast cancer risk: the influence of sociodemographics and knowledge.

The objective of this study was to assess women's interest in genetic testing for breast cancer risk. Randomly selected samples of 761 women without breast cancer from the general population of British Columbia, Canada, and 260 women with breast cancer from the provincial cancer registry participated in a telephone survey that assessed interest in genetic testing for breast cancer risk, knowledge of hereditary breast cancer and genetic testing, and sociodemographics. Women with breast cancer did not possess superior knowledge of breast cancer genetics compared with women from the general population. Of the women with breast cancer, 30.8% reported interest in testing or had been tested, compared with 28.5% of women without breast cancer. Controlling for differences in age, education, personal history of breast cancer, and knowledge of genetics, women with at least one relative with breast cancer were 2.3 times more likely to express interest in genetic testing for breast cancer risk than those with no family history. There were significant interactions between breast cancer status and education and between age and knowledge of breast cancer genetics. Women without breast cancer and with a positive family history, who were between 20 and 40 years of age, were most likely to be interested in testing. The women with breast cancer who were interested in testing tended to be approximately 50 years of age, had a positive family history, and had more years of education. Women with a family history of breast cancer, well-educated women with breast cancer, and younger women, particularly those with knowledge of genetic testing, are important target audiences for community-based education on genetic testing for breast cancer risk.

Adult↗