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PubMed2000

Early detection of genetic hemochromatosis: should all young adults be offered the genetic test?

Genetic hemochromatosis (GH) is a late-onset, autosomal recessive disorder. The majority of those at risk from iron overload and its clinical consequences may be detected by a simple genetic test. Furthermore, treatment by phlebotomy, if instituted early, removes excess iron and prevents the complications of iron overload which include arthralgia, diabetes, and cirrhosis of the liver. GH seems to be an obvious candidate for inclusion in national screening programs. However, important questions remain concerning the proportion of individuals with the high-risk genotype who eventually show clinical manifestations of iron overload and the significance of heterozygosity for haemochromatosis in terms of morbidity. Until these questions are resolved, the introduction of widespread genetic screening cannot be justified.

Adolescent↗
PubMed1996

Genetic testing and counseling in familial adenomatous polyposis.

Testing for adenomatous polyposis coli (APC), the gene responsible for familial adenomatous polyposis (FAP), can now be offered to family members in FAP kindreds. With the availability of this test, genetic counseling has become a crucial tool for helping FAP patients and their relatives understand the syndrome and its implications and for assisting at-risk individuals in making informed decisions about whether or not to undergo genetic testing. Genetic counseling can occur at several time points: when FAP is diagnosed, when an FAP patient is considering reproductive options, when a patient is deciding whether to have his or her children screened, and when an at-risk person is considering genetic testing. Based on our experiences from working with families in a large FAP registry, we explore the different issues that emerge in each of these settings, and how the genetic counselor or clinician can help FAP patients, family members, and at-risk persons deal with these issues.

Adenomatous Polyposis Coli↗
PubMed2001

Predictive genetic testing in children.

Predictive genetic testing should only be performed on children if it is in their best interests. "Interests" include psychosocial elements. Predictive testing is performed on children when there are interventions to prevent disease or to detect and treat it early and it is necessary to begin these interventions in childhood. It is also performed for diseases known to commence in childhood. Predictive testing in children for adult-onset conditions for which there is no medical intervention is highly controversial. Competent children and adolescents can consent to predictive genetic testing. Predictive testing can result in harm, such as discrimination (eg, in insurance entitlement or employment) and stigmatisation. Predictive testing can have important non-medical benefits in terms of self-knowledge and life planning.

Australia↗
PubMed2002

Constructing an account by contrast in counselling for childhood genetic testing.

Genetic counselling sessions are rich and complex sites of accounting practices for decision-making in which clinicians are meant to facilitate rather than control the decisions made by their clients. This often means the adoption of a non-directive stance as counsellors lay out various possible courses of action from which the client can choose, while both client and counsellor may need to bear in mind a wide range of practical and ethical issues. With regard to childhood predictive testing, the complexity of decision-making is manifest not only in relation to the severity of the genetic condition being discussed, but also in terms of who controls the information, who might be affected by it and who makes decisions on whose behalf. In this paper we use discourse analytic methods to examine a single case where the clinician and the parent negotiate decisions about childhood testing and the extent to which the parent can influence this process. In discursive terms, we show how the child's future autonomy is juxtaposed against the parent's current rights. In order fully to understand the various characters and events deployed in the accounting practices of the parent and the genetic counsellor, we focus on one rhetorical device, i.e., contrast, as it is manifest at different levels of representation. We conclude that the interplay between a selected set of the contrast pairs contributes towards recursive interactional patterns as far as non-directive counselling is concerned, and consequently has implications for procedural outcomes.

Adolescent↗
PubMed1998

AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test.

Genetic abnormalities, including partial deletions of the Y-chromosome, are commonly detectable in men with non-obstructive azoospermia (NOA). NOA can be treated using testicular sperm extraction (TESE) with intracytoplasmic sperm injection (ICSI). Recent studies have shown that the presence of deletions involving the AZFc region do not appear to affect the chance of retrieving spermatozoa or have a significant impact on fertilization or pregnancy rates with ICSI. We investigated the effect of Y-chromosome partial deletions on the chance of sperm retrieval with TESE. Eighty attempts at sperm retrieval were performed using TESE on men who were previously evaluated for Y-chromosome partial deletions. Y-chromosome analysis was performed using a polymerase chain reaction (PCR)-based technique with 35 sequence-tagged-sites. Of the 80 men, nine (11%) had partial Y-chromosome deletions detected. Two azoospermic men with AZFc deletions had successful sperm retrieval, ICSI and a subsequent clinical pregnancy. Seven men had deletions involving the AZFb region (three men had isolated AZFb deletions, one had AZFa, AZFb and AZFc deleted, and three had AZFb and AZFc deleted). None of the seven men had spermatozoa extracted by TESE, a result that is significantly different from the overall 64% (47/73) sperm retrieval rate achieved at our centre (P = 0.001). Two men with AZFb deletions had cells consistent with round spermatids identified and injected into oocytes without effecting any normal fertilizations. Although preliminary, these results suggest that the presence of an AZFb deletion is a significantly adverse prognostic finding for TESE. Men with AZFb deletions should be apprised of these results before attempting TESE-ICSI. Alternatives such as donor insemination or adoption should be considered or therapy delayed until improved results with round spermatid injections are likely.

Adult↗
PubMed2002

General practitioners and predictive genetic testing for late-onset diseases in Flanders: what are their opinions and do they want to be involved?

OBJECTIVE: Investigate the attitudes of general practitioners (GPs) concerning predictive testing for late-onset diseases, as well as the perception of their own role in this context. METHODS: 356 GPs received mail questionnaires with telephone pre-notifications and reminders. RESULTS: The questionnaire was returned by 60% (n=215). The GPs' attitudes toward predictive testing for breast cancer, thyroid cancer, Alzheimer disease and Huntington's disease were influenced by the availability and the type of preventive and therapeutic options, the age of onset of the disease as well as by ethical concerns. Regarding a possible tasks for GPs, most of the GPs focussed on gate-keeping aspects, such as providing information and making referrals. CONCLUSION: The GPs were supportive of a limited role for general practice in predictive testing. Genetic education for GPs is needed, with attention to non-directiveness and the characteristic psychosocial and ethical implications of this particular type of genetic testing.

Adolescent↗
PubMedDate not supplied

To test or not to test: interest in genetic testing for Alzheimer's disease among middle-aged adults.

Based on a hypothetical scenario positing 100 percent accuracy in test results, we examined interest in genetic testing for Alzheimer's disease (AD) among adult children, 40-60 years of age, who have a living parent with a diagnosis of probable AD (N = 108), and a matched comparison group of persons with no parental history of AD (N = 150). For both groups, planning for the future was the most important reason cited for being tested; lack of good treatment options and concerns about losing health insurance were the most important reasons for not being tested. Hierarchical regression was used to examine the effects of sociodemographic characteristics, subjective perceptions of memory functioning, concerns about having and developing AD, and mastery on interest in being tested. Personal concerns about developing AD and mastery emerged as significant predictors and subsample membership approached significance, although the full model explained just 18 percent of the variance. Because persons in the comparison group were more likely to report an interest in being tested, educational efforts about genetic testing should not be restricted only to family members of persons with a diagnosis of AD.

Adult↗
PubMed1999

Promoting safe and effective genetic tests in the United States: work of the task force on genetic testing.

The Task Force on Genetic Testing was created to review genetic testing in the United States and, when necessary, to make recommendations to ensure the development of safe and effective genetic tests. A survey to explore the state of genetic testing was undertaken for the Task Force and completed in early 1995. The survey, as well as literature reports and other information collected for the Task Force, showed problems affecting safety and effectiveness, as defined by the Task Force: validity and utility of predictive tests, laboratory quality, and appropriate use by healthcare providers and consumers. On the basis of these findings, the Task Force made several recommendations to ensure safe and effective genetic testing. The Secretary of Health and Human Services followed up one recommendation by creating the Secretary's Advisory Committee on Genetic Testing. One of its functions will be to implement other recommendations of the Task Force.

Genetic Techniques↗
PubMed2006

[A review on genetic testing].

Nowadays genetic tests are available in a growing number of countries, for an expanding set of conditions. Nonetheless, many Chinese people are still not familiar with the principle, testing types, technologies used in this process, application and benefits to society, and national or international administration of genetic testing. It is essential that this increased use of genetic testing should be accompanied by appropriate oversight. This article has roughly reviewed the proceeding of genetic testing these years, which will help us learn more about the new coming era of human genetics and molecular medical revolutions.

Genetic Predisposition to Disease↗
PubMed2005

How can the evaluation of genetic tests be enhanced? Lessons learned from the ACCE framework and evaluating genetic tests in the United Kingdom.

Advances in genetic technology are increasing the availability of genetic tests, not only for rare single gene disorders, but also for common diseases such as breast and colo-rectal cancer. Before there can be widespread uptake of these tests, they must be evaluated to confirm the benefits of their use. But how should genetic tests be evaluated, given the speed at which new tests are emerging? One highly influential approach is the analytic validity, clinical validity, clinical utility and ethical, legal and social issues (ACCE) framework, which has provided a benchmark for the evaluation of genetic tests. The approach has been adopted and adapted by the United Kingdom Genetic Testing Network, with the help of the Public Health Genetics Unit in Cambridge, to evaluate new genetic tests for use in the National Health Service. We discuss a number of conceptual, methodological, and practical issues concerning the evaluation of genetic tests, based on lessons learned from applying the ACCE framework and from the UK experience, and make a number of recommendations to further strengthen the evaluation of genetic tests.

Genetic Carrier Screening↗
PubMed1999

Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing.

CONTEXT: Genetic testing for cancer predisposition is evolving from purely research applications to affecting clinical management. OBJECTIVE: To determine how often genetic test results for hereditary nonpolyposis colorectal cancer (HNPCC) can be definitively interpreted and used to guide clinical management. DESIGN: Case-series study conducted in 1996 to 1998 in which a complete sequence analysis of hMSH2 and hMLH1 coding sequence and flanking intronic regions was performed. Mutations were categorized as protein truncating and missense. In the case of missense alterations, additional analyses were performed in an effort to assess pathogenicity. SETTING AND PARTICIPANTS: Families were identified by self-referral or health care provider referral to a cancer genetics program. Participants and kindreds were classified into 1 of 4 categories: (1) Amsterdam criteria for HNPCC, (2) modified Amsterdam criteria for HNPCC, (3) young age at onset, or (4) HNPCC-variant. In addition, each proband was classified according to the Bethesda guidelines for identification of individuals with HNPCC. MAIN OUTCOME MEASURE: Alterations of hMSH2 and hMLH1 genes. RESULTS: Twenty-seven alterations of hMSH2 and hMLH1 were found in 24 of 70 families (34.3%). Of these, deleterious mutations that could be used with confidence in clinical management were identified in 25.7% (18/70) of families. The rates of definitive results for families fulfilling Amsterdam criteria, modified Amsterdam criteria, young age at onset, HNPCC-variant, and Bethesda guidelines were 27 (39.3%), 13 (18.2%), 12 (16.7%), 11 (15.8%), and 21 (30.4%), respectively. The prevalence of missense mutations, genetic heterogeneity of the syndrome, and limited availability of validated functional assays present a challenge in the interpretation of genetic test results of HNPCC families. CONCLUSIONS: The identification of pathogenic mutations in a significant subset of families for whom the results may have marked clinical importance makes genetic testing an important option for HNPCC and HNPCC-like kindreds. However, for the majority of individuals in whom sequence analysis of hMSH2 and hMLH1 does not give a definitive result, intensive follow-up is still warranted.

Adaptor Proteins, Signal Transducing↗