ISSN:0148-7299    

DOI:10.1002/ajmg.1320260202

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1987

数据来源: WILEY

摘要:

AbstractClinical trials of a presymptomatic test for Huntington chorea (HC) are beginning, and the test may set precedents in screening for other genetic disorders in this way. Therefore, it seems an opportune time to consider the moral and social implications of such testing. The strategy proposed here takes the form of guidelines for research, development, and clinical application of the HC test and any future similar tests. The guidelines cover four stages (preliminary research, verification, refinement, and clinical application). They draw on past experience, on existing guidelines for research involving human subjects, and on some ueneral moral and legal principles. In addition to traditional concerns about relationships between counselors and consultands, they emphasize more contemporary concerns about the interests of third parties and social institutions in what occurs in modern methods of genetic screening. In all cases, however, the guidelines are provisional and are offered here mainly for purposes of discussion and to encourage similar efforts at policymaking by those who become involved with these forms of testing.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260203

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1987

数据来源: WILEY

摘要:

AbstractAttitudes of 69 persons at risk for Huntington disease (HD) were obtained by means of semistructured interviews and questionnaires. About 79% of the individuals said that they would use a presymptornatic predictive test if it were available. All believed that the test should be made available even though there was no cure for HD. Nearly 2/3 of subjects would use the test for prenatal diagnosis, and of these 71% would terminate a pregnancy if the fetus was found to carry the HD gene. Most subjects believed that pretest counseling should be mandatory and many said that testing should be withheld from persons who were psychologically unstable or were threatening self‐harm. The data suggest that about 2–6% of persons at risk for HD may have severe psychiatric or suicidal responses to a positive outcome of predictive testing. This underscores the need for adequate pretest counseling and the availability of professional and community resources tó deal with the impact of predictive testing on individuals and their relat

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260204

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1987

数据来源: WILEY

摘要:

AbstractOne hundred thirty‐one individuals at 50% risk of inheriting Huntington disease (HD) responded to a survey to study their attitudes toward taking a genetic test based on the identification of a genetically linked DNA polymorphism. Ninety‐six percent of the respondents believe that presymptomatic testing should be available, and 66% say they will use it themselves. Fewer married individuals, in comparison to those single, separated, and divorced, intend to take the test. Many respondents (40%) said their primary reason for wanting to be tested is to end the uncertainty in their lives. Results suggest that there will be self‐selection in test use, with many individuals who believe they will be depressed or possibly suicidal with a positive test result deciding not to be tested or unsure about testing. However, 15% of those who want to be tested acknowledge that they may be at risk for suicide if they are probable gene carriers. Only 12% of all respondents say they will be likely to use prenatal testing, suggesting that initial demand may be low in New England. Implementation of presymptomatic testing challenges health care providers to develop strategies to care for otherwise healthy persons who will be given a diagnosis years before the onset of il

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260205

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1987

数据来源: WILEY

摘要:

AbstractHuntington disease (HD) is a late‐onset genetic disorder that is incurable and undetectable until the onset of symptoms. A marker for the gene that causes HD was recently discovered that will lead to a predictive test. The purpose of this research was to assess the attitudes, beliefs, and behavioral intentions concerning the impending predictive test by those at risk for HD. Results from a sample of 56 at‐risk individuals indicated that a majority (65%) favored using the presymp‐tomatic test and would encourage their adult children to use it as well. Fewer but still a substantial percentage of respondents would use the prenatal test (42%) and would test at‐risk minors (35%). Surprisingly, knowledge about predictive testing was quite low and a majority of those least knowledgeable about predictive testing intended to use the test. These findings emphasized the need for outreach and prevention efforts to prepare the at risk and specialized programs of genetic counseling and follow up to accompany predictive

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260206

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1987

数据来源: WILEY

摘要:

AbstractOne hundred fifty‐five individuals at 50% risk of inheriting Huntington disease (HD) were given a questionnaire surveying their sociodemographic characteris‐tics, experience with HD, and attitudes toward presymptomatic and prenatal testing in HD. About two‐thirds (63.2%) of the persons indicated they would take a presymptomatic test even if no specific treatment was available. Although one‐half (49%) of the respondents stated they would make use of a prenatal test, only 43% of these individuals would decide to terminate a heterozygous fetus. Presym‐patomatic test results indicating carrier status would influence some of the respondents' decisions about marriage and childbearing. This strong interest of at‐risk persons to make use of both presymptomatic and prenatal diagnosis in HD indicates the need for well‐organized testing programs. These programs must be designed to address the genetic, psychosocial, and ethical issues that may arise in the use of this type of

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260207

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1987

数据来源: WILEY

摘要:

AbstractThe recently developed presymptomatic test for Huntington chorea presents ethical and legal issues relating to the interests of fiduciary and nonfiduciary third parties. The issues are examined, and the resulting dilemmas are evaluated with respect to ethical principles and to current law.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260208

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1987

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260209

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1987

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260210

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1987

数据来源: WILEY

摘要:

AbstractThe Smith‐Lemli‐Opitz syndrome (SLOS) and the Meckel syndrome (MS) have been regarded as separate autosomal recessive entities. Recently, overlap of these two syndromes has been discussed. A sibship cóntaining a probable new syndrome with features reminiscent of the SLOS and the MS is presented. The literature is reviewed with regard to the frequency of various malformations in these syndromes. Clinical manifestations and cerebellar abnormalities in these sibs are similar to those described in the Joubert syndrome (JS). These three cases may represent a new syndrome with features in common with SLOS, MS, and JS resulting from the same mutant gene, which exhibits considerable pleiot

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260211

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1987

数据来源: WILEY