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PubMed1997

Genetic testing for susceptibility to breast cancer: findings from women's focus groups.

Before designing an intervention to assist women in making informed decisions about BRCA1 testing, we conducted focus groups with women who had breast cancer and unaffected women whose relatives had it to better understand women's knowledge, concerns about testing, and potential influences and support needs in making a decision about genetic testing for susceptibility to breast cancer. Findings show a general lack of knowledge about genetic testing for breast cancer and what it means to have a positive test result, a strong concern for family members, particularly daughters, to use information from testing to help them make better decisions about their health and lifestyle choices, a strong sense of altruism, particularly among affected women, about being tested to help other women, not just family, and various support needs surrounding the testing experience, including an active role for physicians in the decision process. The major advantages to testing seem to be for information that could help reduce uncertainty and assist with making future decisions about medical treatment and plans for surveillance and some lifestyle changes. The major disadvantages to testing were concerns about confidentiality and loss of insurance, the lack of proven options for women after testing, and stress from knowing one had the BRCA1 mutation. These focus group discussions show women's concerns and ambivalence about genetic testing. We need to provide women with balanced information about the positive and negative aspects of such testing, determine how best to involve physicians in women's decisions about testing, consider the effects of testing on family relationships, and provide more public education about what genetic testing is and what it means.

Adult↗
PubMed2001

Awareness of genetic testing for breast cancer risk among women with a family history of breast cancer: effect of women's information sources on their awareness.

The purpose of this study was to relate women's awareness of breast cancer risk genetic testing to the sources of information used by women for obtaining information about breast health. A sample of 354 women with a family history of breast or ovarian cancer was interviewed. Study variables included women's information sources for breast health, personal risk perceptions, family history of breast cancer, personal experience (i.e., having had a biopsy), awareness of genetic testing, and demographic variables. Regression analyses were conducted to assess the relationships among the variables. Only approximately one-third of the study participants were moderately aware of genetic testing for breast cancer risk. The Internet Web was the only information source significantly related to awareness of genetic testing. Having had a biopsy, being more highly educated, and being married also were significant predictors of awareness of genetic testing. Study participants were not uniformly aware of genetic testing. If the diffusion of Web technology continues, the Web may be a promising source for increasing awareness on genetic testing for breast cancer risk.

Adolescent↗
PubMed2002

Cost-minimization analysis of genetic testing versus clinical screening of at-risk relatives for familial adenomatous polyposis.

OBJECTIVE: Familial adenomatous polyposis (FAP) is a well-known hereditary colorectal cancer-predisposing syndrome. Genetic testing for colorectal cancer risk is now part of standard medical practice, but very little is known about the economic impact of this technology. The aim of this study was to assess, from a healthcare system perspective, the direct costs of two strategies for screening at-risk relatives of FAP patients: clinical screening versus genetic testing for FAP. METHODS: A systematic review of the literature was carried out. Additional information was gathered from experts in research and clinical laboratories and in hospital departments. A decision tree was constructed to compare per-person and per-family costs of the two strategies for screening at-risk relatives of FAP patients. Sensitivity analysis was performed to assess the stability of the model across the full range of plausible values for all key parameters. RESULTS: According to the decision analysis, with FAP screening starting at puberty, the average screening costs are $3,181 and $2,259 (Canadian dollars), respectively, for the clinical screening and the genetic testing strategies. Genetic screening is cost saving up to a first screening age of 36. Sensitivity analysis shows that the results of the baseline analysis hold across a variety of assumptions concerning the parameter values. CONCLUSIONS: The genetic testing strategy is cost saving relative to the clinical screening alternative. Apart from its lower costs, it is associated with many other benefits. Accordingly, under predefined conditions, predictive genetic testing seems to be the optimal screening strategy for FAP.

Adenomatous Polyposis Coli↗
PubMed1993

Interest in genetic testing for colon cancer susceptibility: cognitive and emotional correlates.

BACKGROUND: Recent advances in human genetics have led to the identification of markers for cancer susceptibility. Nevertheless, little is known about the public's interest in clinical genetic testing for cancer-related markers. METHODS: A random-digit-dial telephone survey of 401 adult residents of Utah was conducted during the summer of 1990. Respondents were randomized to one of three question frames and asked about their interest in a potential genetic test for colon cancer susceptibility. They were also asked to rate their risk for colon cancer, how often they worried about contracting any type of cancer, and how often they felt worried and nervous during the past year (trait anxiety). RESULTS: Eighty-three percent of respondents expressed interest in genetic testing. Level of interest was most strongly correlated with perceived risk for colon cancer (r = 0.21, P < 0.001). Responses were not affected by the use of different question frames. CONCLUSIONS: These results show a high level of public interest in genetic testing for colon cancer susceptibility. The data also suggest that anxiety does not undermine interest, but future research must determine whether this relationship is limited to hypothetical judgments such as those studied here.

Adult↗
PubMed1995

Interest in genetic testing among first-degree relatives of breast cancer patients.

The recent cloning of a breast-ovarian cancer susceptibility gene (BRCA1), and determination of the locus of a related gene (BRCA2), offers potential for clinical genetic testing for breast cancer susceptibility. This study examined interest in and expectations about an impending genetic test among first-degree relatives (FDRs) of breast cancer patients. One hundred five females completed two structured telephone interviews to assess demographics, breast cancer risk factors, psychological factors, and attitudes about genetic testing for breast cancer susceptibility. Overall, 91% of FDRs said that they would want to be tested, 4% said they would not, and 5% were uncertain. The most commonly cited reasons for wanting genetic testing were to learn about one's children's risk, to increase use of cancer screening tests, and to take better care of oneself. Women with less formal education were motivated by childbearing decisions and future planning to a greater degree than were women with education beyond high school. Most women anticipated a negative psychological impact of positive test results, involving increased anxiety (83%), depression (80%), and impaired quality of life (46%). In addition, 72% of women indicated that they would still worry if they tested negative. In multivariate regression analysis, level of baseline depression was the strongest predictor of an anticipated negative impact of genetic testing (Beta = .15; P, .0001). These results suggest that the demand for genetic testing for breast cancer susceptibility may be great, even among women who are not likely to have predisposing mutations.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1999

Genetic testing in families with hereditary nonpolyposis colon cancer.

CONTEXT: Genetic testing for hereditary nonpolyposis colon cancer (HNPCC) is available, but the rates of acceptance of testing or barriers to participation are not known. OBJECTIVE: To investigate rates and predictors of utilization of genetic testing for HNPCC. DESIGN: Cohort study conducted between July 1996 and July 1998. SETTING: Hereditary nonpolyposis colon cancer family registry. PARTICIPANTS: Adult male and female members (n = 208) of 4 extended HNPCC families contacted for a baseline telephone interview. INTERVENTIONS: Family education and individual genetic counseling. MAIN OUTCOME MEASURE: Participant acceptance of HNPCC test results. RESULTS: Of the 208 family members, 90 (43%) received test results and 118 (57%) declined. Of 139 subjects (67%) who completed a baseline telephone interview, 84 (60%) received test results and 55 (40%) declined. Of the 84 subjects who received test results, 35 (42%) received information indicating that they had HNPCC-associated mutations and 49 (58%) that they did not. Test acceptors had higher education levels (odds ratio [OR], 3.74; 95% confidence interval [CI], 2.49-5.61) and were more likely to have participated in a previous genetic linkage study (OR, 4.30; 95% CI, 1.84-10.10). The presence of depression symptoms significantly reduced rates of HNPCC test use (OR, 0.34; 95% CI, 0.17-0.66). Although rates of test use were identical among men and women, the presence of depression symptoms resulted in a 4-fold decrease in test use among women (OR, 0.25; 95% CI, 0.08-0.80) and a smaller, nonsignificant reduction among men (OR, 0.49; 95% CI, 0.19-1.27). CONCLUSIONS: Despite having significantly elevated risks of developing colon cancer, a relatively small proportion of HNPCC family members are likely to use genetic testing. Barriers to test acceptance may include less formal education and the presence of depression symptoms, especially among women. Additional research is needed to generalize these findings to different clinical settings and racially diverse populations.

Adult↗
PubMed1997

Predictive genetic tests: problems and pitfalls.

The role that genetic factors play in medicine has expanded, owing to such recent advances as those made by the Human Genome Project and the work that has spun off from it. The project is focusing particularly on localization and characterization of recognized human genetic disorders, which in turn increases awareness of the potential for improved treatment of these disorders. Technical advances in genetic testing in the absence of effective treatment has presented the health profession with major ethical challenges. The example of the identification of the BRCA1 and BRCA2 genes in families at high risk for breast and ovarian cancer is presented to illustrate the issues of the sensitivity of the method, the degree of susceptibility a positive result implies, the need for and availability of counseling and patient education, and confidentiality of the test results. A compelling need exists for adequate education about medical genetics to raise the "literacy" rate among health professionals.

BRCA2 Protein↗
PubMed2025

Clinical and genetic variant re-analysis among pediatric probands undergoing genetic testing for arrhythmia syndromes.

BACKGROUND: Despite increases in genetic testing, longitudinal data regarding changes in diagnostic yield and variant reclassification for inherited arrhythmia syndromes are limited. OBJECTIVE: Determine longitudinal changes in diagnostic yield and variant classification. METHODS: Single-center retrospective study of probands <18 years undergoing genetic testing for suspected inherited cardiac conditions associated with arrhythmias, 2007 to 2018. Variants were classified as diagnostic (pathogenic/likely pathogenic), non-diagnostic (benign/likely benign [B/LB]), or variants of uncertain significance (VUS). Variant reclassification was performed in October 2023 using VarSome and American College of Medical Genetics criteria. We evaluated results by era (early 2007-2013 vs. later 2014-2018, coinciding with Sanger and next-generation sequencing, respectively) and by likelihood of disease based on clinical evaluation. RESULTS: Of 306 probands, initial testing was 23.2% diagnostic, 55.6% non-diagnostic (33.7% no variant, 21.9% B/LB), and 21.2% VUS. When comparing eras, diagnostic yield decreased (34.1%-15.3%), VUS increased (9.3%-29.9%), and non-diagnostic remained similar (55% to 57%). Variants for 22.7% (46/203) of probands with &#x2265;1 variant changed: 9.9% of diagnostic variants (7/71) downgraded to VUS or non-diagnostic, and 60.0% of VUS changed (23.1% upgraded, 36.9% downgraded). B/LB variants did not change. Probands with higher disease likelihood had 6-times the odds of diagnostic results compared to lower disease likelihood, regardless of era (odds ratio 6.3, 95% confidence interval 3.2-12.4, P < .0001). CONCLUSION: Variant reclassification led to changes in 23% of probands, both downgrading and upgrading status, even among probands initially thought to be pathogenic. When comparing later to earlier eras, VUS variants increased while diagnostic yield decreased. Findings support the need for variant re-interpretation and periodic reclassification over time.

Humans↗
PubMed1996

Teaching efficacy of a medical education module on genetic testing for cancer.

BACKGROUND: With the identification of the breast cancer susceptibility genes BRCA1 and BRCA2, clinical testing for detection of the mutated genes may be available in the near future. Primary care physicians increasingly serve as full-service providers and gatekeepers and must be aware of presymptomatic testing in order to counsel their patients appropriately. To address this educational need, a new module was incorporated into the genetics course taken by first-year medical students at the Medical College of Virginia. METHODS: The module used small groups, led by genetics faculty and members of the Virginia Breast Cancer Foundation, for discussion of case examples. The medical students' knowledge of and attitudes toward cancer and predictive genetic testing were assessed by a pretest and a posttest. RESULTS: After the module, knowledge scores increased by 27%, and significant changes were seen in the students' attitudes toward issues such as the regulation of testing availability and the psychological effect of testing. Most students consistently felt that predictive genetic testing is beneficial, that they would have the testing themselves, that genetic counseling should be required for testing, and that insurers' access to genetic testing results should be limited. Overall, the module was received favorably by all participants. CONCLUSIONS: Small-group discussion of relevant case examples increases knowledge and awareness of issues regarding presymptomatic genetic testing for breast cancer.

Breast Neoplasms↗
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↗
PubMed2025

Nonadherence to guidelines for genetic testing in families with ovarian cancer shows racial bias.

PURPOSE: The National Comprehensive Cancer Network (NCCN) recommends germline genetic testing for individuals at risk for hereditary ovarian cancer. We sought to determine the proportion and characteristics of individuals meeting testing criteria in a multicenter biobank who were appropriately offered testing. METHODS: In this retrospective cohort study, we identified Mass General Brigham Biobank participants meeting genetic testing criteria per NCCN guidelines. Logistic regression was used to analyze sociodemographic factors associated with which participants were offered testing, completed testing, and had a family history that matched their self-report documented in the electronic medical record. RESULTS: Most eligible participants (909/1441, 63.1%) were not offered genetic testing. Participants who were Black or Hispanic had a lower likelihood of being offered testing. Compared with self-report, 988 (68.6%) participants had a family history of ovarian cancer documented in their electronic medical record. Older age, Hispanic ethnicity, and public insurance use were associated with decreased likelihoods of accurate family history documentation. Correct documentation was associated with an increased likelihood of being offered testing. CONCLUSION: The majority of participants in this study did not receive NCCN-compliant care. Germline genetic testing for hereditary ovarian cancer screening is underutilized and access to this testing is currently inequitable.

Adult↗
PubMedDate not supplied

Effects of risk counseling on interest in breast cancer genetic testing for lower risk women.

PURPOSE: A randomized trial was conducted to test the effects of two counseling methods (genetic counseling and group counseling) against a control no-intervention condition on interest in genetic testing in lower risk women. METHODS: After completing baseline surveys, women (N = 357) were randomized to one of three conditions: to receive individual genetic risk counseling, to receive a group psychosocial group counseling, or to serve as a control group. Participants completed follow-up questionnaires 6 months after randomization. RESULTS: All participants had some familial history of breast cancer, but none had a family history indicative of autosomal dominant genetic mutation. At baseline over three fourths of the sample judged themselves to be appropriate candidates for testing. By the end of the survey, two thirds (70%) of the women in the counseling group still judged themselves to be appropriate candidates for testing. Findings were similar for interest in genetic testing. Changes in beliefs about genetic testing (e.g., beliefs about potential stigma associated with testing) altered the effects of counseling. CONCLUSION: These results indicate that counseling can change interest in genetic testing only slightly and that changing women's beliefs about the properties of testing might be one mechanism of doing so.

Adolescent↗
PubMedDate not supplied

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.

Adoption↗
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↗
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↗