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PubMed2000

[Hereditary cancer and genetic testing: the role of division of clinical and molecular genetics].

Genetic testing has been widely available and useful in several kinds of familial cancer. Shinshu University Hospital established a division of clinical and molecular genetics as one of its central service departments. We have a staff meeting once a week to discuss each case to provide the suitable counseling and the ethical-legal and social issues. We performed genetic testing in 44 cases, including familial adenomatous polyposis, multiple endocrine neoplasia type 1 and 2, familial breast cancer, von Hippel-Lindau disease, and Li-Fraumeni syndrome. This is the first clinical genetics department in the National University Hospitals in Japan and this system increases the utility of genetic testing.

Ethics↗

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↗

PubMed2001

Is informed choice in genetic testing a different breed of informed decision-making? A discussion paper.

Traditionally genetic counselling has promoted a non-directive approach to patients' decision-making but the feasibility of this has been questioned. Unlike most branches of medicine, which are shifting away from a paternalistic model, genetic counselling is approaching shared decision-making from a different perspective. There are certain features of genetic counselling and genetic testing which may complicate the drive towards shared decision-making and informed choice: 1. Genetic test results can have broader implications than non-genetic test results. 2. Genetic test results may be perceived by the patient differently to non-genetic test results. 3. Carrier status for autosomal recessive conditions may be difficult for patients to conceptualize. 4. Decisions in genetic counselling are often multiple and sequential. 5. Most information in genetic counselling is based on probabilities and uncertainties. Each of these features is discussed in relation to achieving shared decision-making in genetic testing and the implications for genetic counsellors are described. The points raised, however, have broader implications for medicine as several of the features, although central to genetic testing, are not entirely unique. Lessons learnt from genetic testing and genetic counselling in achieving shared decision-making could help develop methods of promoting informed choice in other medical arenas such as cancer screening.

Decision Making↗

PubMed2005

Cost-effectiveness analysis of genetic testing for familial long QT syndrome in symptomatic index cases.

BACKGROUND: Genetic testing for long QT syndrome (LQTS) has been available in a research setting for the past decade, and a commercial test has recently become available. However, the costs and effectiveness of genetic testing have not been estimated. OBJECTIVES: The purpose of this study was to conduct a cost-effectiveness analysis of genetic testing in the management of patients who have or are suspected to have familial LQTS. METHODS: We examined the incremental cost-effectiveness of genetic testing compared with no genetic testing for symptomatic index cases and how this varied according to changes in assumptions and data inputs. Data were obtained from the published literature and a clinical cohort. RESULTS: We found that genetic testing is more cost-effective than not testing for symptomatic index cases at an estimated cost of 2,500 US dollar per year of life saved. These results were generally robust, although they were sensitive to some data inputs such as the cost of testing and the mortality rate among untreated individuals with LQTS. CONCLUSION: A genetic test for familial LQTS is cost-effective relative to no testing, given our assumptions about the population to be tested and the relevant probabilities and costs. The primary benefit of testing is to more accurately diagnose and treat individuals based on a combination of clinical scores and test results. Future economic analyses of testing for familial LQTS should consider the potential benefits of genetic testing of broader populations, including family members.

Adolescent↗

PubMed1997

Genetic testing for cancer risk.

Genetic testing for cancer susceptibility is already part of the clinical management of families with some of the well-defined (but uncommon) inherited cancer syndromes. In cases where the risks associated with a predisposing mutation are less certain, or where there is no clearly effective intervention to offer those with a positive result, its use is more controversial. Careful evaluation of costs and benefits, and of the efficacy of interventions in those found to be at risk, is essential and is only just beginning. An immediate challenge is to ensure that both health professionals and the public understand clearly the issues involved.

Confidentiality↗

PubMed2004

Genetic testing in primary care.

Rapid advances in genetic research are leading to an expanding array of genetic tests. Primary care providers will increasingly be challenged to identify patients whose symptoms, physical findings, or family history indicate the need for genetic testing, and to determine how to use genetic information most effectively to improve disease prevention. In addressing these challenges, practitioners will need to consider the range of different uses of genetic testing, including diagnosis in symptomatic and asymptomatic people, risk assessment, reproductive decision-making, and population screening. They will need a set of core skills and knowledge to evaluate family history and to recognize clinical findings that indicate genetic risk. At the same time, the primary care perspective will contribute to the evaluation of appropriate uses of genetic testing. A partnership between medical genetics and primary care will help to ensure the development of effective policies, educational tools, and practice guidelines for the coming era of genomic health care.

Clinical Competence↗

PubMed1999

Quality assurance in molecular genetic testing laboratories.

CONTEXT: Specific regulation of laboratories performing molecular genetic tests may be needed to ensure standards and quality assurance (QA) and safeguard patient rights to informed consent and confidentiality. However, comprehensive analysis of current practices of such laboratories, important for assessing the need for regulation and its impact on access to testing, has not been conducted. OBJECTIVE: To collect and analyze data regarding availability of clinical molecular genetic testing, including personnel standards and laboratory practices. DESIGN: A mail survey in June 1997 of molecular genetic testing laboratory directors and assignment of a QA score based on responses to genetic testing process items. SETTING: Hospital-based, independent, and research-based molecular genetic testing laboratories in the United States. PARTICIPANTS: Directors of molecular genetic testing laboratories (n = 245; response rate, 74.9%). MAIN OUTCOME MEASURE: Laboratory process QA score, using the American College of Medical Genetics Laboratory Practice Committee standards. RESULTS: The 245 responding laboratories reported availability of testing for 94 disorders. Personnel qualifications varied, although all directors had doctoral degrees. The mean QAscore was 90% (range, 44%-100%) with 36 laboratories (15%) scoring lower than 70%. Higher scores were associated with test menu size of more than 4 tests (P = .01), performance of more than 30 analyses annually (P = .01), director having a PhD vs MD degree (P = .002), director board certification (P = .03), independent (P <.001) and hospital (P = .01) laboratories vs research laboratory, participation in proficiency testing (P<.001), and Clinical Laboratory Improvement Amendment certification (P = .006). Seventy percent of laboratories provided access to genetic counseling, 69% had a confidentiality policy, and 45% required informed consent prior to testing. CONCLUSION: The finding that a number of laboratories had QA scores that may reflect suboptimal laboratory practices suggests that both personnel qualification and laboratory practice standards are most in need of improvement to ensure quality in clinical molecular genetic testing laboratories.

Certification↗

PubMed2003

Perceived disadvantages and concerns about abuses of genetic testing for cancer risk: differences across African American, Latina and Caucasian women.

Participation in genetic testing for cancer risk is low among women of medically underserved ethnic groups and this is due, in part, to genetic testing attitudes, specifically perceived disadvantages of genetic testing and concerns about possible abuses of genetic testing. The goals of the current study were to: (a) explore genetic testing attitudes, and (b) determine the extent to which ethnicity, awareness of genetic testing, and medical mistrust are associated with genetic testing attitudes. African American, Latina, and Caucasian women (N=273) completed an interview assessing sociodemographic information, genetic testing awareness, medical mistrust, and genetic testing attitudes. Latina participants more strongly agreed with disadvantages of testing than the other ethnic groups. Both Latina and African American women more strongly concurred with concerns about testing abuses compared to Caucasian women. In hierarchical linear regression analyses, Spanish language preference and medical mistrust were the only significant predictors of perceived disadvantages and medical mistrust was the only significant predictor of abuse concerns. These findings support the importance of identifying genetic testing attitudes that may be culturally specific in order to promote culturally competent care by genetic risk professionals.

Adult↗

PubMed2026

Genetic testing practices across European epilepsy centers: An ERN EpiCARE survey.

OBJECTIVE: Genetic testing plays an increasing role in the diagnostic pathway for rare and complex epilepsies. However, significant heterogeneity persists in access, implementation, and interpretation across Europe. This study aimed to assess genetic testing practices, accessibility, and challenges across expert epilepsy centers within the European Reference Network for Rare and Complex Epilepsies (ERN EpiCARE) and to identify key challenges and areas for harmonization. METHODS: A cross-sectional survey was developed by the ERN EpiCARE Clinical Genetics Working Group and distributed to 50 EpiCARE member centers across 27 European countries. The questionnaire collected quantitative and qualitative information on available genetic testing modalities, turnaround times, use of rapid testing, multidisciplinary team (MDT) organization, genetic counseling practices, and perceived challenges. Survey findings were complemented by a structured discussion held during the ERN EpiCARE General Assembly. RESULTS: Responses were received from 46 centers (51 responses). Most centers reported access to genetic testing, predominantly through in-house facilities. Whole-exome sequencing was available in 85% of centers, and gene panels were available in 78%. Whole-genome sequencing was available in 59% of centers, frequently restricted to research or performed externally. Turnaround times for standard genetic testing were most commonly between 1 and 6 months. Genetic testing strategies varied by epilepsy subtype, with gene panels most frequently used as first-tier testing, and exome sequencing preferentially applied in developmental and epileptic encephalopathies. Considerable heterogeneity was observed in MDT organization, access to genetic counseling, reimbursement, data-sharing and registry infrastructures. SIGNIFICANCE: Although genetic testing is widely available across ERN EpiCARE centers, substantial disparities persist in its organization, accessibility, and implementation. Addressing these gaps through strengthened multidisciplinary collaboration, harmonized diagnostic strategies, and enhanced European-level coordination will be essential to ensure equitable access to high-quality genetic care for individuals with epilepsy. PLAIN LANGUAGE SUMMARY: Genetic testing is increasingly integrated in the diagnostic pathway for rare and complex epilepsies and treatment decisions. An ERN EpiCARE survey assessed how genetic testing is implemented across specialist epilepsy centers in Europe and identified persistent organizational, financial, and clinical barriers. Although most centers had access to advanced genomic testing, important differences were identified in access, reimbursement, turnaround times, and multidisciplinary expertise. European collaboration and harmonized practices are needed to support equitable access to high-quality genetic care for people living with epilepsy.

European reference networks↗

PubMed2025

Mainstreaming of clinical genetic testing: A conceptual framework.

PURPOSE: Demand for genetic testing is increasing across medicine, whereas the genetics workforce remains stable. In response, mainstreaming models are being introduced, in which nongeneticist clinicians are increasingly involved in the genetic testing pathway. Because a standardized approach would facilitate evaluation and optimal patient care, a unified framework is warranted. METHODS: Through a focus group with clinical genetics experts, a conceptual framework for the mainstreaming of clinical genetic testing is proposed. Through a consensus process, experts elucidated the steps in the diagnostic care pathway and defined a set of variables that influence which mainstreaming model is best suited to specific patient care scenarios. RESULTS: A total of 35 individuals representing 20 distinct clinical genetics services and all Canadian provinces participated in the development of the framework. The framework describes 4 generalizable mainstreaming models of care, each with varying levels of involvement of the clinical genetics service in the diagnostic care pathway. CONCLUSION: This framework will help guide clinical teams in the design and evaluation of mainstreaming efforts. It is critical that these programs are evaluated and shared in a standardized way so that we can implement strategies that allow optimal utilization of genetics resources and improve patient care.

Humans↗

PubMed2004

Men's values-based factors on prostate cancer risk genetic testing: a telephone survey.

BACKGROUND: While a definitive genetic test for Hereditary Prostate Cancer (HPC) is not yet available, future HPC risk testing may become available. Past survey data have shown high interest in HPC testing, but without an in-depth analysis of its underlying rationale to those considering it. METHODS: Telephone computer-assisted interviews of 400 men were conducted in a large metropolitan East-coast city, with subsequent development of psychometric scales and their correlation with intention to receive testing. RESULTS: Approximately 82% of men interviewed expressed that they "probably" or "definitely" would get genetic testing for prostate cancer risk if offered now. Factor analysis revealed four distinct, meaningful factors for intention to receive genetic testing for prostate cancer risk. These factors reflected attitudes toward testing and were labeled "motivation to get testing," "consequences and actions after knowing the test result," "psychological distress," and "beliefs of favorable outcomes if tested" (alpha = 0.89, 0.73, 0.73, and 0.60, respectively). These factors accounted for 70% of the total variability. The domains of motivation (directly), consequences (inversely), distress (inversely), and positive expectations (directly) all correlated with intention to receive genetic testing (p < 0.001). CONCLUSIONS: Men have strong attitudes favoring genetic testing for prostate cancer risk. The factors most associated with testing intention include those noted in past cancer genetics studies, and also highlights the relevance in considering one's motivation and perception of positive outcomes in genetic decision-making.

Adult↗

PubMed2004

Health motivation and emotional vigilance in genetic testing for prostate cancer risk.

Actual uptake of genetic testing for cancer susceptibility is generally lower than 50%, despite a high initial interest above 80%. As population-based genetic testing for cancer susceptibility becomes more widespread, there will be an increasing need to understand the relationship of patient-affective factors to test intention and actual uptake behavior. Using hypothetical genetic testing for prostate cancer susceptibility as an example, we used surveys of 400 men in the general population of Philadelphia to develop a Structural Equation Modeling diagram to reveal the influence of affective factors implicated in the intention to undergo genetic testing for prostate cancer risk. Results showed that most men want genetic testing for prostate cancer, believe strongly in its benefits, and are not deterred by negative affect. Our data suggest that high positive expectations, plus a high desire to comply with physician and family suggestions, result in an increased test intention. Informed consent assessment, therefore, requires an appreciation not only of patient risk, but awareness of patient motivation and affect as well.

Adult↗

PubMed2005

Single nucleotide polymorphisms in clinical genetic testing: the characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1.

Clinical genetic testing is increasingly employed in the medical management of cancer patients. These tests support a variety of clinical decisions by providing results that indicate risk for future disease, confirmation of diagnoses, and more recently, therapeutic selection and prognosis. Most genetic variation detected during clinical testing involves single nucleotide polymorphisms (SNPs). Continued advances in the technologies of genetic analyses make these tests increasingly sensitive, cost-effective and timely, which contribute to their increased utilization. Conversely, it has proven difficult to characterize the clinical significance of genetic variants that do not obviously truncate the open reading frames of genes. These genetic variants of uncertain clinical significance diminish the value of genetic test results. This article highlights a variety of approaches that have emerged from research in diverse disciplines to solve the problem, including the application of information about common SNPs in multiple methods to better characterize clinically uncertain variants. Hereditary breast/ovarian cancer, and in particular BRCA1, provides a framework for this discussion. BRCA1 is particularly interesting in this respect since clinical genetic testing by direct DNA sequencing for over 50,000 patients in North America has revealed approximately 1500 genetic variants to date. This large data set combined with the clinical significance of BRCA1 have resulted in research groups selecting BRCA1 as a preferred gene to evaluate novel methods in this field. Finally, the lessons learned through work with BRCA1 are highly applicable to many other genes associated with cancer risk.

Breast Neoplasms↗

PubMed1996

Clinical applications of genetic testing: implications for the family physician.

Genetic testing may be applied in a variety of clinical situations, including preconception counseling, prenatal diagnosis and postnatal determination of genetic predisposition to disease. The family physician needs to become familiar with the full range of genetic testing possibilities in all phases of the human life cycle. Cystic fibrosis, Huntington's disease and cancer are three diseases for which genetic testing has become a reality, and they serve to illustrate the clinical and ethical dilemmas that arise with this type of testing.

Ethics, Medical↗

PubMed2004

Attitudes of healthcare professionals and parents regarding genetic testing for violent traits in childhood.

OBJECTIVES: Although no genetic tests for violent behaviour are currently available, research is ongoing to isolate genes related to a propensity for violence. We explored the attitudes of parents and healthcare professionals toward behavioural genetic testing for violence. DESIGN: The attitudes of healthcare professionals and the lay public about genetic testing of children were elicited for a range of conditions through interviews with healthcare professionals and focus groups with parents. All participants were informed that behavioural genetic testing was the only hypothetical genetic test in our script and it was presented as the last condition. PARTICIPANTS: The healthcare professionals included both genetic professionals and paediatricians. Focus group participants were recruited through various community institutions in the southside of Chicago and nearby suburbs. RESULTS: The healthcare professionals tended to medicalise behavioural genetics, and were opposed to testing unless treatment was available. They were also uniformly concerned about the potential harms of this information, including unintentional adverse effects from environmental changes. In contrast, parents wanted genetic testing for behavioural traits to be available even in the absence of proved medical treatments. Not all parents wanted to test their own children, and some parents were concerned about self-fulfilling prophecies. Some parents, however, felt the information was important for their understanding, and could be used to support environmental changes. CONCLUSIONS: While healthcare professionals medicalised behavioural genetics, parents focused on environmental causes and influences. Consequently, healthcare professionals do not want to offer testing if there is no clear treatment, while parents may want this information to shape environmental influences.

Attitude↗

PubMed1994

Issues in molecular genetic testing of individuals with suspected early-onset familial Alzheimer's disease.

The identification of mutations in the amyloid precursor protein (APP) gene associated with the presence of early-onset familial Alzheimer disease (AD) raises the possibility of their practical clinical application, at least in some circumstances, in the diagnostic assessment for AD. As a stimulus for discussion, a hypothetical, illustrative case vignette is presented. A 48-year-old man, concerned about recent memory loss and with a family history of early-onset AD, requested testing for the APP717 Val-->Ile mutation, previously identified in his relatives affected with AD. Whether the testing should be undertaken is considered in the context of the current interpretation of potential test results as well as the competency of the individual who requested the test to provide informed consent. Informed consent includes an understanding of the foreseeable risks and benefits associated with disclosure of test results. Although molecular genetic testing in particular individuals, such as the man described herein, could be appropriate, it should not be interpreted to apply in general at this stage to individuals suspected of having AD. In view of a number of caveats, including the genetic heterogeneity of AD, which significantly limits the sensitivity and specificity of the currently available genetic tests, further research and discussion is strongly recommended before widespread introduction of molecular genetic testing for individuals with suspected AD.

Alzheimer Disease↗

PubMed2002

Genetic testing for cancer predisposition.

The onslaught of genetic innovations in the past decade has resulted in the ongoing identification of a spectrum of genes, some of which, when mutated, result in cancer susceptibility. The impact of these discoveries on healthcare provides an opportunity to enhance health promotion and long-term health outcomes by identifying at-risk individuals before cancer develops. This provides the healthcare provider with the potential to intervene much earlier to either reduce the risk or diagnose a cancer early when the chances for effective treatment are greatest. Even though genetic testing is increasingly being employed clinically, there remains a gap between the technology and effective interventions. Genetic tests also provide information that is distinct from other tests used routinely in health promotion, because of the personal and family nature of the information. This results in unique clinical, ethical, legal, and social issues that further affect the effective diffusion of this technology clinically. This article provides an overview of the distinguishing characteristics of genetic testing, outlines the essential components of informed consent, and discusses the potential implications of testing on individuals' lives and the nurse's role in offering genetic testing.

Genetic Predisposition to Disease↗

PubMedDate not supplied

Genetic testing and the family.

The family experience of genetic testing is explored in this article. Two family stories are presented to illustrate how families define and manage the ethical and social issues that emerge during 2 types of genetic testing: mutation analysis for Huntington's disease and genetic testing for breast and ovarian cancer susceptibility. These 2 families were purposefully selected because their stories exemplify the complexity of the genetic testing experience. In addition, the story of the family living with Huntington's disease shows how negative consequences can occur for the individual tested, other family members, the marital relationship, and the family system, even when the test results indicate that the individual does not carry a deleterious gene mutation. Both of the families presented in this article participated in an ongoing study, Family Experience of Genetic Testing: Ethical Dimensions , in which 118 family members from 67 families have participated. The guiding framework for this research was the family management style framework developed and refined by Knafl and colleagues.

Breast Neoplasms↗